Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.73641834A>C | CA364718191 | SLC17A5 | c.382T>G (p.Tyr128Asp) n.148T>G c.331T>G (p.Tyr111Asp) c.184T>G (p.Tyr62Asp) c.151T>G (p.Tyr51Asp) c.403T>G (p.Tyr135Asp) | |
6 | g.73641834A>G | CA364718190 | SLC17A5 | c.382T>C (p.Tyr128His) n.148T>C c.331T>C (p.Tyr111His) c.184T>C (p.Tyr62His) c.151T>C (p.Tyr51His) c.403T>C (p.Tyr135His) | |
6 | g.73641834A>T | CA364718189 | SLC17A5 | c.382T>A (p.Tyr128Asn) n.148T>A c.331T>A (p.Tyr111Asn) c.184T>A (p.Tyr62Asn) c.151T>A (p.Tyr51Asn) c.403T>A (p.Tyr135Asn) | |
6 | g.73641835T>A | CA450912183 | SLC17A5 | c.381A>T (p.Gly127=) n.147A>T c.330A>T (p.Gly110=) c.183A>T (p.Gly61=) c.150A>T (p.Gly50=) c.402A>T (p.Gly134=) | gnomAD v4 |
6 | g.73641835T>C | CA450912184 | SLC17A5 | c.381A>G (p.Gly127=) n.147A>G c.330A>G (p.Gly110=) c.183A>G (p.Gly61=) c.150A>G (p.Gly50=) c.402A>G (p.Gly134=) | gnomAD v4 |
6 | g.73641835T>G | CA450912185 | SLC17A5 | c.381A>C (p.Gly127=) n.147A>C c.330A>C (p.Gly110=) c.183A>C (p.Gly61=) c.150A>C (p.Gly50=) c.402A>C (p.Gly134=) | |
6 | g.73641836C>A | CA364718192 | SLC17A5 | c.380G>T (p.Gly127Val) n.146G>T c.329G>T (p.Gly110Val) c.182G>T (p.Gly61Val) c.149G>T (p.Gly50Val) c.401G>T (p.Gly134Val) | |
6 | g.73641836C>G | CA364718193 | SLC17A5 | c.380G>C (p.Gly127Ala) n.146G>C c.329G>C (p.Gly110Ala) c.182G>C (p.Gly61Ala) c.149G>C (p.Gly50Ala) c.401G>C (p.Gly134Ala) | |
6 | g.73641836C>T | CA364718194 | SLC17A5 | c.380G>A (p.Gly127Glu) n.146G>A c.329G>A (p.Gly110Glu) c.182G>A (p.Gly61Glu) c.149G>A (p.Gly50Glu) c.401G>A (p.Gly134Glu) | |
6 | g.73641837C>A | CA364718195 | SLC17A5 | c.379G>T (p.Gly127Ter) n.145G>T c.328G>T (p.Gly110Ter) c.181G>T (p.Gly61Ter) c.148G>T (p.Gly50Ter) c.400G>T (p.Gly134Ter) | |
6 | g.73641837C>G | CA364718196 | SLC17A5 | c.379G>C (p.Gly127Arg) n.145G>C c.328G>C (p.Gly110Arg) c.181G>C (p.Gly61Arg) c.148G>C (p.Gly50Arg) c.400G>C (p.Gly134Arg) | |
6 | g.73641837C>T | CA364718197 | SLC17A5 | c.379G>A (p.Gly127Arg) n.145G>A c.328G>A (p.Gly110Arg) c.181G>A (p.Gly61Arg) c.148G>A (p.Gly50Arg) c.400G>A (p.Gly134Arg) | |
6 | g.73641838T>A | CA450912186 | SLC17A5 | c.378A>T (p.Gly126=) n.144A>T c.327A>T (p.Gly109=) c.180A>T (p.Gly60=) c.147A>T (p.Gly49=) c.399A>T (p.Gly133=) | |
6 | g.73641838T>C | CA450912187 | SLC17A5 | c.378A>G (p.Gly126=) n.144A>G c.327A>G (p.Gly109=) c.180A>G (p.Gly60=) c.147A>G (p.Gly49=) c.399A>G (p.Gly133=) | |
6 | g.73641838T>G | CA450912188 | SLC17A5 | c.378A>C (p.Gly126=) n.144A>C c.327A>C (p.Gly109=) c.180A>C (p.Gly60=) c.147A>C (p.Gly49=) c.399A>C (p.Gly133=) | |
6 | g.73641839C>A | CA364718198 | SLC17A5 | c.377G>T (p.Gly126Val) n.143G>T c.326G>T (p.Gly109Val) c.179G>T (p.Gly60Val) c.146G>T (p.Gly49Val) c.398G>T (p.Gly133Val) | |
6 | g.73641839C>G | CA364718199 | SLC17A5 | c.377G>C (p.Gly126Ala) n.143G>C c.326G>C (p.Gly109Ala) c.179G>C (p.Gly60Ala) c.146G>C (p.Gly49Ala) c.398G>C (p.Gly133Ala) | |
6 | g.73641839C>T | CA364718200 | SLC17A5 | c.377G>A (p.Gly126Glu) n.143G>A c.326G>A (p.Gly109Glu) c.179G>A (p.Gly60Glu) c.146G>A (p.Gly49Glu) c.398G>A (p.Gly133Glu) | |
6 | g.73641840C>A | CA364718201 | SLC17A5 | c.376G>T (p.Gly126Ter) n.142G>T c.325G>T (p.Gly109Ter) c.178G>T (p.Gly60Ter) c.145G>T (p.Gly49Ter) c.397G>T (p.Gly133Ter) | |
6 | g.73641840C>G | CA364718202 | SLC17A5 | c.376G>C (p.Gly126Arg) n.142G>C c.325G>C (p.Gly109Arg) c.178G>C (p.Gly60Arg) c.145G>C (p.Gly49Arg) c.397G>C (p.Gly133Arg) | |
6 | g.73641840C>T | CA364718203 | SLC17A5 | c.376G>A (p.Gly126Arg) n.142G>A c.325G>A (p.Gly109Arg) c.178G>A (p.Gly60Arg) c.145G>A (p.Gly49Arg) c.397G>A (p.Gly133Arg) | |
6 | g.73641841A>C | CA450912189 | SLC17A5 | c.375T>G (p.Pro125=) n.141T>G c.324T>G (p.Pro108=) c.177T>G (p.Pro59=) c.144T>G (p.Pro48=) c.396T>G (p.Pro132=) | |
6 | g.73641841A>G | CA450912190 | SLC17A5 | c.375T>C (p.Pro125=) n.141T>C c.324T>C (p.Pro108=) c.177T>C (p.Pro59=) c.144T>C (p.Pro48=) c.396T>C (p.Pro132=) | |
6 | g.73641841A>T | CA450912191 | SLC17A5 | c.375T>A (p.Pro125=) n.141T>A c.324T>A (p.Pro108=) c.177T>A (p.Pro59=) c.144T>A (p.Pro48=) c.396T>A (p.Pro132=) | |
6 | g.73641842G>A | CA364718206 | SLC17A5 | c.374C>T (p.Pro125Leu) n.140C>T c.323C>T (p.Pro108Leu) c.176C>T (p.Pro59Leu) c.143C>T (p.Pro48Leu) c.395C>T (p.Pro132Leu) | |
6 | g.73641842G>C | CA364718204 | SLC17A5 | c.374C>G (p.Pro125Arg) n.140C>G c.323C>G (p.Pro108Arg) c.176C>G (p.Pro59Arg) c.143C>G (p.Pro48Arg) c.395C>G (p.Pro132Arg) | |
6 | g.73641842G>T | CA364718205 | SLC17A5 | c.374C>A (p.Pro125His) n.140C>A c.323C>A (p.Pro108His) c.176C>A (p.Pro59His) c.143C>A (p.Pro48His) c.395C>A (p.Pro132His) | |
6 | g.73641843G>A | CA3890541 | SLC17A5 | c.373C>T (p.Pro125Ser) n.139C>T c.322C>T (p.Pro108Ser) c.175C>T (p.Pro59Ser) c.142C>T (p.Pro48Ser) c.394C>T (p.Pro132Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.73641843G>C | CA364718207 | SLC17A5 | c.373C>G (p.Pro125Ala) n.139C>G c.322C>G (p.Pro108Ala) c.175C>G (p.Pro59Ala) c.142C>G (p.Pro48Ala) c.394C>G (p.Pro132Ala) | |
6 | g.73641843G= | CA1638223119 | SLC17A5 | c.373C= (p.Pro125=) n.139C= c.322C= (p.Pro108=) c.175C= (p.Pro59=) c.142C= (p.Pro48=) c.394C= (p.Pro132=) | |
6 | g.73641843G>T | CA364718208 | SLC17A5 | c.373C>A (p.Pro125Thr) n.139C>A c.322C>A (p.Pro108Thr) c.175C>A (p.Pro59Thr) c.142C>A (p.Pro48Thr) c.394C>A (p.Pro132Thr) | |
6 | g.73641844A>C | CA364718209 | SLC17A5 | c.372T>G (p.Ile124Met) n.138T>G c.321T>G (p.Ile107Met) c.174T>G (p.Ile58Met) c.141T>G (p.Ile47Met) c.393T>G (p.Ile131Met) | |
6 | g.73641844A>G | CA450912192 | SLC17A5 | c.372T>C (p.Ile124=) n.138T>C c.321T>C (p.Ile107=) c.174T>C (p.Ile58=) c.141T>C (p.Ile47=) c.393T>C (p.Ile131=) | |
6 | g.73641844A>T | CA450912193 | SLC17A5 | c.372T>A (p.Ile124=) n.138T>A c.321T>A (p.Ile107=) c.174T>A (p.Ile58=) c.141T>A (p.Ile47=) c.393T>A (p.Ile131=) | |
6 | g.73641845A>C | CA364718210 | SLC17A5 | c.371T>G (p.Ile124Ser) n.137T>G c.320T>G (p.Ile107Ser) c.173T>G (p.Ile58Ser) c.140T>G (p.Ile47Ser) c.392T>G (p.Ile131Ser) | |
6 | g.73641845A>G | CA364718211 | SLC17A5 | c.371T>C (p.Ile124Thr) n.137T>C c.320T>C (p.Ile107Thr) c.173T>C (p.Ile58Thr) c.140T>C (p.Ile47Thr) c.392T>C (p.Ile131Thr) | |
6 | g.73641845A>T | CA364718212 | SLC17A5 | c.371T>A (p.Ile124Asn) n.137T>A c.320T>A (p.Ile107Asn) c.173T>A (p.Ile58Asn) c.140T>A (p.Ile47Asn) c.392T>A (p.Ile131Asn) | |
6 | g.73641846T>A | CA364718215 | SLC17A5 | c.370A>T (p.Ile124Phe) n.136A>T c.319A>T (p.Ile107Phe) c.172A>T (p.Ile58Phe) c.139A>T (p.Ile47Phe) c.391A>T (p.Ile131Phe) | |
6 | g.73641846T>C | CA364718213 | SLC17A5 | c.370A>G (p.Ile124Val) n.136A>G c.319A>G (p.Ile107Val) c.172A>G (p.Ile58Val) c.139A>G (p.Ile47Val) c.391A>G (p.Ile131Val) | |
6 | g.73641846T>G | CA364718214 | SLC17A5 | c.370A>C (p.Ile124Leu) n.136A>C c.319A>C (p.Ile107Leu) c.172A>C (p.Ile58Leu) c.139A>C (p.Ile47Leu) c.391A>C (p.Ile131Leu) | gnomAD v4 |
6 | g.73641847C>A | CA364718216 | SLC17A5 | c.369G>T (p.Gln123His) n.135G>T c.318G>T (p.Gln106His) c.171G>T (p.Gln57His) c.138G>T (p.Gln46His) c.390G>T (p.Gln130His) | |
6 | g.73641847C= | CA1638223122 | SLC17A5 | c.369G= (p.Gln123=) n.135G= c.318G= (p.Gln106=) c.171G= (p.Gln57=) c.138G= (p.Gln46=) c.390G= (p.Gln130=) | |
6 | g.73641847C>G | CA364718217 | SLC17A5 | c.369G>C (p.Gln123His) n.135G>C c.318G>C (p.Gln106His) c.171G>C (p.Gln57His) c.138G>C (p.Gln46His) c.390G>C (p.Gln130His) | |
6 | g.73641847C>T | CA450912194 | SLC17A5 | c.369G>A (p.Gln123=) n.135G>A c.318G>A (p.Gln106=) c.171G>A (p.Gln57=) c.138G>A (p.Gln46=) c.390G>A (p.Gln130=) | dbSNP gnomAD v4 |
6 | g.73641848T>A | CA364718218 | SLC17A5 | c.368A>T (p.Gln123Leu) n.134A>T c.317A>T (p.Gln106Leu) c.170A>T (p.Gln57Leu) c.137A>T (p.Gln46Leu) c.389A>T (p.Gln130Leu) | |
6 | g.73641848T>C | CA140975726 | SLC17A5 | c.368A>G (p.Gln123Arg) n.134A>G c.317A>G (p.Gln106Arg) c.170A>G (p.Gln57Arg) c.137A>G (p.Gln46Arg) c.389A>G (p.Gln130Arg) | dbSNP |
6 | g.73641848T>G | CA364718219 | SLC17A5 | c.368A>C (p.Gln123Pro) n.134A>C c.317A>C (p.Gln106Pro) c.170A>C (p.Gln57Pro) c.137A>C (p.Gln46Pro) c.389A>C (p.Gln130Pro) | |
6 | g.73641848T= | CA1638223127 | SLC17A5 | c.368A= (p.Gln123=) n.134A= c.317A= (p.Gln106=) c.170A= (p.Gln57=) c.137A= (p.Gln46=) c.389A= (p.Gln130=) | |
6 | g.73641849G>A | CA364718220 | SLC17A5 | c.367C>T (p.Gln123Ter) n.133C>T c.316C>T (p.Gln106Ter) c.169C>T (p.Gln57Ter) c.136C>T (p.Gln46Ter) c.388C>T (p.Gln130Ter) | |
6 | g.73641849G>C | CA364718221 | SLC17A5 | c.367C>G (p.Gln123Glu) n.133C>G c.316C>G (p.Gln106Glu) c.169C>G (p.Gln57Glu) c.136C>G (p.Gln46Glu) c.388C>G (p.Gln130Glu) | gnomAD v4 |
6 | g.73641849G= | CA1638223131 | SLC17A5 | c.367C= (p.Gln123=) n.133C= c.316C= (p.Gln106=) c.169C= (p.Gln57=) c.136C= (p.Gln46=) c.388C= (p.Gln130=) | |
6 | g.73641849G>T | CA3890542 | SLC17A5 | c.367C>A (p.Gln123Lys) n.133C>A c.316C>A (p.Gln106Lys) c.169C>A (p.Gln57Lys) c.136C>A (p.Gln46Lys) c.388C>A (p.Gln130Lys) | dbSNP ExAC |
6 | g.73641850T>A | CA450912195 | SLC17A5 | c.366A>T (p.Thr122=) n.132A>T c.315A>T (p.Thr105=) c.168A>T (p.Thr56=) c.135A>T (p.Thr45=) c.387A>T (p.Thr129=) | |
6 | g.73641850T>C | CA450912196 | SLC17A5 | c.366A>G (p.Thr122=) n.132A>G c.315A>G (p.Thr105=) c.168A>G (p.Thr56=) c.135A>G (p.Thr45=) c.387A>G (p.Thr129=) | |
6 | g.73641850T>G | CA3890543 | SLC17A5 | c.366A>C (p.Thr122=) n.132A>C c.315A>C (p.Thr105=) c.168A>C (p.Thr56=) c.135A>C (p.Thr45=) c.387A>C (p.Thr129=) | dbSNP ExAC |
6 | g.73641850T= | CA1638223136 | SLC17A5 | c.366A= (p.Thr122=) n.132A= c.315A= (p.Thr105=) c.168A= (p.Thr56=) c.135A= (p.Thr45=) c.387A= (p.Thr129=) | |
6 | g.73641851G>A | CA364718222 | SLC17A5 | c.365C>T (p.Thr122Ile) n.131C>T c.314C>T (p.Thr105Ile) c.167C>T (p.Thr56Ile) c.134C>T (p.Thr45Ile) c.386C>T (p.Thr129Ile) | |
6 | g.73641851G>C | CA364718223 | SLC17A5 | c.365C>G (p.Thr122Arg) n.131C>G c.314C>G (p.Thr105Arg) c.167C>G (p.Thr56Arg) c.134C>G (p.Thr45Arg) c.386C>G (p.Thr129Arg) | |
6 | g.73641851G= | CA1638223139 | SLC17A5 | c.365C= (p.Thr122=) n.131C= c.314C= (p.Thr105=) c.167C= (p.Thr56=) c.134C= (p.Thr45=) c.386C= (p.Thr129=) | |
6 | g.73641851G>T | CA3890544 | SLC17A5 | c.365C>A (p.Thr122Lys) n.131C>A c.314C>A (p.Thr105Lys) c.167C>A (p.Thr56Lys) c.134C>A (p.Thr45Lys) c.386C>A (p.Thr129Lys) | dbSNP ExAC |
6 | g.73641852T>A | CA364718224 | SLC17A5 | c.364A>T (p.Thr122Ser) n.130A>T c.313A>T (p.Thr105Ser) c.166A>T (p.Thr56Ser) c.133A>T (p.Thr45Ser) c.385A>T (p.Thr129Ser) | |
6 | g.73641852T>C | CA364718225 | SLC17A5 | c.364A>G (p.Thr122Ala) n.130A>G c.313A>G (p.Thr105Ala) c.166A>G (p.Thr56Ala) c.133A>G (p.Thr45Ala) c.385A>G (p.Thr129Ala) | |
6 | g.73641852T>G | CA364718226 | SLC17A5 | c.364A>C (p.Thr122Pro) n.130A>C c.313A>C (p.Thr105Pro) c.166A>C (p.Thr56Pro) c.133A>C (p.Thr45Pro) c.385A>C (p.Thr129Pro) | |
6 | g.73641853G>A | CA450912197 | SLC17A5 | c.363C>T (p.Ile121=) n.129C>T c.312C>T (p.Ile104=) c.165C>T (p.Ile55=) c.132C>T (p.Ile44=) c.384C>T (p.Ile128=) | |
6 | g.73641853G>C | CA364718227 | SLC17A5 | c.363C>G (p.Ile121Met) n.129C>G c.312C>G (p.Ile104Met) c.165C>G (p.Ile55Met) c.132C>G (p.Ile44Met) c.384C>G (p.Ile128Met) | |
6 | g.73641853G= | CA1638223144 | SLC17A5 | c.363C= (p.Ile121=) n.129C= c.312C= (p.Ile104=) c.165C= (p.Ile55=) c.132C= (p.Ile44=) c.384C= (p.Ile128=) | |
6 | g.73641853G>T | CA3890545 | SLC17A5 | c.363C>A (p.Ile121=) n.129C>A c.312C>A (p.Ile104=) c.165C>A (p.Ile55=) c.132C>A (p.Ile44=) c.384C>A (p.Ile128=) | dbSNP ExAC |
6 | g.73641854A= | CA1638223148 | SLC17A5 | c.362T= (p.Ile121=) n.128T= c.311T= (p.Ile104=) c.164T= (p.Ile55=) c.131T= (p.Ile44=) c.383T= (p.Ile128=) | |
6 | g.73641854A>C | CA364718228 | SLC17A5 | c.362T>G (p.Ile121Ser) n.128T>G c.311T>G (p.Ile104Ser) c.164T>G (p.Ile55Ser) c.131T>G (p.Ile44Ser) c.383T>G (p.Ile128Ser) | |
6 | g.73641854A>G | CA3890546 | SLC17A5 | c.362T>C (p.Ile121Thr) n.128T>C c.311T>C (p.Ile104Thr) c.164T>C (p.Ile55Thr) c.131T>C (p.Ile44Thr) c.383T>C (p.Ile128Thr) | dbSNP ExAC |
6 | g.73641854A>T | CA364718229 | SLC17A5 | c.362T>A (p.Ile121Asn) n.128T>A c.311T>A (p.Ile104Asn) c.164T>A (p.Ile55Asn) c.131T>A (p.Ile44Asn) c.383T>A (p.Ile128Asn) | |
6 | g.73641855T>A | CA364718230 | SLC17A5 | c.361A>T (p.Ile121Phe) n.127A>T c.310A>T (p.Ile104Phe) c.163A>T (p.Ile55Phe) c.130A>T (p.Ile44Phe) c.382A>T (p.Ile128Phe) | |
6 | g.73641855T>C | CA364718232 | SLC17A5 | c.361A>G (p.Ile121Val) n.127A>G c.310A>G (p.Ile104Val) c.163A>G (p.Ile55Val) c.130A>G (p.Ile44Val) c.382A>G (p.Ile128Val) | gnomAD v4 |
6 | g.73641855T>G | CA364718231 | SLC17A5 | c.361A>C (p.Ile121Leu) n.127A>C c.310A>C (p.Ile104Leu) c.163A>C (p.Ile55Leu) c.130A>C (p.Ile44Leu) c.382A>C (p.Ile128Leu) | |
6 | g.73641856G>A | CA450912198 | SLC17A5 | c.360C>T (p.Ile120=) n.126C>T c.309C>T (p.Ile103=) c.162C>T (p.Ile54=) c.129C>T (p.Ile43=) c.381C>T (p.Ile127=) | gnomAD v4 |
6 | g.73641856G>C | CA364718233 | SLC17A5 | c.360C>G (p.Ile120Met) n.126C>G c.309C>G (p.Ile103Met) c.162C>G (p.Ile54Met) c.129C>G (p.Ile43Met) c.381C>G (p.Ile127Met) | |
6 | g.73641856G= | CA1638223151 | SLC17A5 | c.360C= (p.Ile120=) n.126C= c.309C= (p.Ile103=) c.162C= (p.Ile54=) c.129C= (p.Ile43=) c.381C= (p.Ile127=) | |
6 | g.73641856G>T | CA3890547 | SLC17A5 | c.360C>A (p.Ile120=) n.126C>A c.309C>A (p.Ile103=) c.162C>A (p.Ile54=) c.129C>A (p.Ile43=) c.381C>A (p.Ile127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641857A= | CA1638223156 | SLC17A5 | c.359T= (p.Ile120=) n.125T= c.308T= (p.Ile103=) c.161T= (p.Ile54=) c.128T= (p.Ile43=) c.380T= (p.Ile127=) | |
6 | g.73641857A>C | CA364718234 | SLC17A5 | c.359T>G (p.Ile120Ser) n.125T>G c.308T>G (p.Ile103Ser) c.161T>G (p.Ile54Ser) c.128T>G (p.Ile43Ser) c.380T>G (p.Ile127Ser) | |
6 | g.73641857A>G | CA364718235 | SLC17A5 | c.359T>C (p.Ile120Thr) n.125T>C c.308T>C (p.Ile103Thr) c.161T>C (p.Ile54Thr) c.128T>C (p.Ile43Thr) c.380T>C (p.Ile127Thr) | |
6 | g.73641857A>T | CA3890548 | SLC17A5 | c.359T>A (p.Ile120Asn) n.125T>A c.308T>A (p.Ile103Asn) c.161T>A (p.Ile54Asn) c.128T>A (p.Ile43Asn) c.380T>A (p.Ile127Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641858T>A | CA364718236 | SLC17A5 | c.358A>T (p.Ile120Phe) n.124A>T c.307A>T (p.Ile103Phe) c.160A>T (p.Ile54Phe) c.127A>T (p.Ile43Phe) c.379A>T (p.Ile127Phe) | |
6 | g.73641858T>C | CA364718237 | SLC17A5 | c.358A>G (p.Ile120Val) n.124A>G c.307A>G (p.Ile103Val) c.160A>G (p.Ile54Val) c.127A>G (p.Ile43Val) c.379A>G (p.Ile127Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641858T>G | CA364718238 | SLC17A5 | c.358A>C (p.Ile120Leu) n.124A>C c.307A>C (p.Ile103Leu) c.160A>C (p.Ile54Leu) c.127A>C (p.Ile43Leu) c.379A>C (p.Ile127Leu) | dbSNP |
6 | g.73641858T= | CA1638223161 | SLC17A5 | c.358A= (p.Ile120=) n.124A= c.307A= (p.Ile103=) c.160A= (p.Ile54=) c.127A= (p.Ile43=) c.379A= (p.Ile127=) | |
6 | g.73641859G>A | CA450912199 | SLC17A5 | c.357C>T (p.Tyr119=) n.123C>T c.306C>T (p.Tyr102=) c.159C>T (p.Tyr53=) c.126C>T (p.Tyr42=) c.378C>T (p.Tyr126=) | |
6 | g.73641859G>C | CA364718239 | SLC17A5 | c.357C>G (p.Tyr119Ter) n.123C>G c.306C>G (p.Tyr102Ter) c.159C>G (p.Tyr53Ter) c.126C>G (p.Tyr42Ter) c.378C>G (p.Tyr126Ter) | |
6 | g.73641859G= | CA1638223167 | SLC17A5 | c.357C= (p.Tyr119=) n.123C= c.306C= (p.Tyr102=) c.159C= (p.Tyr53=) c.126C= (p.Tyr42=) c.378C= (p.Tyr126=) | |
6 | g.73641859G>T | CA3890549 | SLC17A5 | c.357C>A (p.Tyr119Ter) n.123C>A c.306C>A (p.Tyr102Ter) c.159C>A (p.Tyr53Ter) c.126C>A (p.Tyr42Ter) c.378C>A (p.Tyr126Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641860T>A | CA364718240 | SLC17A5 | c.356A>T (p.Tyr119Phe) n.122A>T c.305A>T (p.Tyr102Phe) c.158A>T (p.Tyr53Phe) c.125A>T (p.Tyr42Phe) c.377A>T (p.Tyr126Phe) | |
6 | g.73641860T>C | CA3890550 | SLC17A5 | c.356A>G (p.Tyr119Cys) n.122A>G c.305A>G (p.Tyr102Cys) c.158A>G (p.Tyr53Cys) c.125A>G (p.Tyr42Cys) c.377A>G (p.Tyr126Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641860T>G | CA364718241 | SLC17A5 | c.356A>C (p.Tyr119Ser) n.122A>C c.305A>C (p.Tyr102Ser) c.158A>C (p.Tyr53Ser) c.125A>C (p.Tyr42Ser) c.377A>C (p.Tyr126Ser) | |
6 | g.73641860T= | CA1638223170 | SLC17A5 | c.356A= (p.Tyr119=) n.122A= c.305A= (p.Tyr102=) c.158A= (p.Tyr53=) c.125A= (p.Tyr42=) c.377A= (p.Tyr126=) | |
6 | g.73641861A>C | CA364718244 | SLC17A5 | c.355T>G (p.Tyr119Asp) n.121T>G c.304T>G (p.Tyr102Asp) c.157T>G (p.Tyr53Asp) c.124T>G (p.Tyr42Asp) c.376T>G (p.Tyr126Asp) | |
6 | g.73641861A>G | CA364718242 | SLC17A5 | c.355T>C (p.Tyr119His) n.121T>C c.304T>C (p.Tyr102His) c.157T>C (p.Tyr53His) c.124T>C (p.Tyr42His) c.376T>C (p.Tyr126His) | |
6 | g.73641861A>T | CA364718243 | SLC17A5 | c.355T>A (p.Tyr119Asn) n.121T>A c.304T>A (p.Tyr102Asn) c.157T>A (p.Tyr53Asn) c.124T>A (p.Tyr42Asn) c.376T>A (p.Tyr126Asn) | |
6 | g.73641862G>A | CA450912200 | SLC17A5 | c.354C>T (p.Gly118=) n.120C>T c.303C>T (p.Gly101=) c.156C>T (p.Gly52=) c.123C>T (p.Gly41=) c.375C>T (p.Gly125=) | |
6 | g.73641862G>C | CA450912201 | SLC17A5 | c.354C>G (p.Gly118=) n.120C>G c.303C>G (p.Gly101=) c.156C>G (p.Gly52=) c.123C>G (p.Gly41=) c.375C>G (p.Gly125=) | |
6 | g.73641862G>T | CA450912202 | SLC17A5 | c.354C>A (p.Gly118=) n.120C>A c.303C>A (p.Gly101=) c.156C>A (p.Gly52=) c.123C>A (p.Gly41=) c.375C>A (p.Gly125=) | |
6 | g.73641863C>A | CA364718245 | SLC17A5 | c.353G>T (p.Gly118Val) n.119G>T c.302G>T (p.Gly101Val) c.155G>T (p.Gly52Val) c.122G>T (p.Gly41Val) c.374G>T (p.Gly125Val) | |
6 | g.73641863C>G | CA364718246 | SLC17A5 | c.353G>C (p.Gly118Ala) n.119G>C c.302G>C (p.Gly101Ala) c.155G>C (p.Gly52Ala) c.122G>C (p.Gly41Ala) c.374G>C (p.Gly125Ala) | |
6 | g.73641863C>T | CA364718247 | SLC17A5 | c.353G>A (p.Gly118Asp) n.119G>A c.302G>A (p.Gly101Asp) c.155G>A (p.Gly52Asp) c.122G>A (p.Gly41Asp) c.374G>A (p.Gly125Asp) | |
6 | g.73641864C>A | CA364718248 | SLC17A5 | c.352G>T (p.Gly118Cys) n.118G>T c.301G>T (p.Gly101Cys) c.154G>T (p.Gly52Cys) c.121G>T (p.Gly41Cys) c.373G>T (p.Gly125Cys) | |
6 | g.73641864C>G | CA364718249 | SLC17A5 | c.352G>C (p.Gly118Arg) n.118G>C c.301G>C (p.Gly101Arg) c.154G>C (p.Gly52Arg) c.121G>C (p.Gly41Arg) c.373G>C (p.Gly125Arg) | |
6 | g.73641864C>T | CA364718250 | SLC17A5 | c.352G>A (p.Gly118Ser) n.118G>A c.301G>A (p.Gly101Ser) c.154G>A (p.Gly52Ser) c.121G>A (p.Gly41Ser) c.373G>A (p.Gly125Ser) | |
6 | g.73641865del | CA2573141131 | SLC17A5 | c.351del (p.Tyr117Ter) n.117del c.300del (p.Tyr100Ter) c.153del (p.Tyr51Ter) c.120del (p.Tyr40Ter) c.372del (p.Tyr124Ter) | dbSNP |
6 | g.73641865A>C | CA364718251 | SLC17A5 | c.351T>G (p.Tyr117Ter) n.117T>G c.300T>G (p.Tyr100Ter) c.153T>G (p.Tyr51Ter) c.120T>G (p.Tyr40Ter) c.372T>G (p.Tyr124Ter) | |
6 | g.73641865A>G | CA450912203 | SLC17A5 | c.351T>C (p.Tyr117=) n.117T>C c.300T>C (p.Tyr100=) c.153T>C (p.Tyr51=) c.120T>C (p.Tyr40=) c.372T>C (p.Tyr124=) | |
6 | g.73641865A>T | CA364718252 | SLC17A5 | c.351T>A (p.Tyr117Ter) n.117T>A c.300T>A (p.Tyr100Ter) c.153T>A (p.Tyr51Ter) c.120T>A (p.Tyr40Ter) c.372T>A (p.Tyr124Ter) | |
6 | g.73641866T>A | CA364718253 | SLC17A5 | c.350A>T (p.Tyr117Phe) n.116A>T c.299A>T (p.Tyr100Phe) c.152A>T (p.Tyr51Phe) c.119A>T (p.Tyr40Phe) c.371A>T (p.Tyr124Phe) | |
6 | g.73641866T>C | CA364718254 | SLC17A5 | c.350A>G (p.Tyr117Cys) n.116A>G c.299A>G (p.Tyr100Cys) c.152A>G (p.Tyr51Cys) c.119A>G (p.Tyr40Cys) c.371A>G (p.Tyr124Cys) | |
6 | g.73641866T>G | CA364718255 | SLC17A5 | c.350A>C (p.Tyr117Ser) n.116A>C c.299A>C (p.Tyr100Ser) c.152A>C (p.Tyr51Ser) c.119A>C (p.Tyr40Ser) c.371A>C (p.Tyr124Ser) | |
6 | g.73641866_73641867delinsTA | CA1638223174 | SLC17A5 | c.349_350delinsTA (p.Tyr117=) n.115_116delinsTA c.298_299delinsTA (p.Tyr100=) c.151_152delinsTA (p.Tyr51=) c.118_119delinsTA (p.Tyr40=) c.370_371delinsTA (p.Tyr124=) | |
6 | g.73641867A= | CA1638223190 | SLC17A5 | c.349T= (p.Tyr117=) n.115T= c.298T= (p.Tyr100=) c.151T= (p.Tyr51=) c.118T= (p.Tyr40=) c.370T= (p.Tyr124=) | |
6 | g.73641867A>C | CA364718258 | SLC17A5 | c.349T>G (p.Tyr117Asp) n.115T>G c.298T>G (p.Tyr100Asp) c.151T>G (p.Tyr51Asp) c.118T>G (p.Tyr40Asp) c.370T>G (p.Tyr124Asp) | |
6 | g.73641867A>G | CA364718257 | SLC17A5 | c.349T>C (p.Tyr117His) n.115T>C c.298T>C (p.Tyr100His) c.151T>C (p.Tyr51His) c.118T>C (p.Tyr40His) c.370T>C (p.Tyr124His) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73641867A>T | CA364718256 | SLC17A5 | c.349T>A (p.Tyr117Asn) n.115T>A c.298T>A (p.Tyr100Asn) c.151T>A (p.Tyr51Asn) c.118T>A (p.Tyr40Asn) c.370T>A (p.Tyr124Asn) | |
6 | g.73641873dup | CA16041086 | SLC17A5 | c.349dup (p.Tyr117LeufsTer?) n.115dup c.298dup (p.Tyr100LeufsTer?) c.151dup (p.Tyr51LeufsTer?) c.118dup (p.Tyr40LeufsTer?) c.370dup (p.Tyr124LeufsTer?) | ClinVar dbSNP |
6 | g.73641873del | CA3890551 | SLC17A5 | c.349del (p.Tyr117MetfsTer17) n.115del c.298del (p.Tyr100MetfsTer17) c.151del (p.Tyr51MetfsTer17) c.118del (p.Tyr40MetfsTer17) c.370del (p.Tyr124MetfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.73641868A>C | CA364718260 | SLC17A5 | c.348T>G (p.Phe116Leu) n.114T>G c.297T>G (p.Phe99Leu) c.150T>G (p.Phe50Leu) c.117T>G (p.Phe39Leu) c.369T>G (p.Phe123Leu) | |
6 | g.73641868A>G | CA450912204 | SLC17A5 | c.348T>C (p.Phe116=) n.114T>C c.297T>C (p.Phe99=) c.150T>C (p.Phe50=) c.117T>C (p.Phe39=) c.369T>C (p.Phe123=) | |
6 | g.73641868A>T | CA364718259 | SLC17A5 | c.348T>A (p.Phe116Leu) n.114T>A c.297T>A (p.Phe99Leu) c.150T>A (p.Phe50Leu) c.117T>A (p.Phe39Leu) c.369T>A (p.Phe123Leu) | |
6 | g.73641869A>C | CA364718261 | SLC17A5 | c.347T>G (p.Phe116Cys) n.113T>G c.296T>G (p.Phe99Cys) c.149T>G (p.Phe50Cys) c.116T>G (p.Phe39Cys) c.368T>G (p.Phe123Cys) | |
6 | g.73641869A>G | CA364718262 | SLC17A5 | c.347T>C (p.Phe116Ser) n.113T>C c.296T>C (p.Phe99Ser) c.149T>C (p.Phe50Ser) c.116T>C (p.Phe39Ser) c.368T>C (p.Phe123Ser) | |
6 | g.73641869A>T | CA364718263 | SLC17A5 | c.347T>A (p.Phe116Tyr) n.113T>A c.296T>A (p.Phe99Tyr) c.149T>A (p.Phe50Tyr) c.116T>A (p.Phe39Tyr) c.368T>A (p.Phe123Tyr) | |
6 | g.73641870A>C | CA364718264 | SLC17A5 | c.346T>G (p.Phe116Val) n.112T>G c.295T>G (p.Phe99Val) c.148T>G (p.Phe50Val) c.115T>G (p.Phe39Val) c.367T>G (p.Phe123Val) | |
6 | g.73641870A>G | CA364718265 | SLC17A5 | c.346T>C (p.Phe116Leu) n.112T>C c.295T>C (p.Phe99Leu) c.148T>C (p.Phe50Leu) c.115T>C (p.Phe39Leu) c.367T>C (p.Phe123Leu) | |
6 | g.73641870A>T | CA364718266 | SLC17A5 | c.346T>A (p.Phe116Ile) n.112T>A c.295T>A (p.Phe99Ile) c.148T>A (p.Phe50Ile) c.115T>A (p.Phe39Ile) c.367T>A (p.Phe123Ile) | |
6 | g.73641871A>C | CA364718268 | SLC17A5 | c.345T>G (p.Phe115Leu) n.111T>G c.294T>G (p.Phe98Leu) c.147T>G (p.Phe49Leu) c.114T>G (p.Phe38Leu) c.366T>G (p.Phe122Leu) | gnomAD v4 |
6 | g.73641871A>G | CA450912205 | SLC17A5 | c.345T>C (p.Phe115=) n.111T>C c.294T>C (p.Phe98=) c.147T>C (p.Phe49=) c.114T>C (p.Phe38=) c.366T>C (p.Phe122=) | |
6 | g.73641871A>T | CA364718267 | SLC17A5 | c.345T>A (p.Phe115Leu) n.111T>A c.294T>A (p.Phe98Leu) c.147T>A (p.Phe49Leu) c.114T>A (p.Phe38Leu) c.366T>A (p.Phe122Leu) | |
6 | g.73641872A= | CA1638223197 | SLC17A5 | c.344T= (p.Phe115=) n.110T= c.293T= (p.Phe98=) c.146T= (p.Phe49=) c.113T= (p.Phe38=) c.365T= (p.Phe122=) | |
6 | g.73641872A>C | CA364718269 | SLC17A5 | c.344T>G (p.Phe115Cys) n.110T>G c.293T>G (p.Phe98Cys) c.146T>G (p.Phe49Cys) c.113T>G (p.Phe38Cys) c.365T>G (p.Phe122Cys) | |
6 | g.73641872A>G | CA364718270 | SLC17A5 | c.344T>C (p.Phe115Ser) n.110T>C c.293T>C (p.Phe98Ser) c.146T>C (p.Phe49Ser) c.113T>C (p.Phe38Ser) c.365T>C (p.Phe122Ser) | |
6 | g.73641872A>T | CA364718271 | SLC17A5 | c.344T>A (p.Phe115Tyr) n.110T>A c.293T>A (p.Phe98Tyr) c.146T>A (p.Phe49Tyr) c.113T>A (p.Phe38Tyr) c.365T>A (p.Phe122Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641873A>C | CA364718272 | SLC17A5 | c.343T>G (p.Phe115Val) n.109T>G c.292T>G (p.Phe98Val) c.145T>G (p.Phe49Val) c.112T>G (p.Phe38Val) c.364T>G (p.Phe122Val) | |
6 | g.73641873A>G | CA364718273 | SLC17A5 | c.343T>C (p.Phe115Leu) n.109T>C c.292T>C (p.Phe98Leu) c.145T>C (p.Phe49Leu) c.112T>C (p.Phe38Leu) c.364T>C (p.Phe122Leu) | |
6 | g.73641873A>T | CA364718274 | SLC17A5 | c.343T>A (p.Phe115Ile) n.109T>A c.292T>A (p.Phe98Ile) c.145T>A (p.Phe49Ile) c.112T>A (p.Phe38Ile) c.364T>A (p.Phe122Ile) | |
6 | g.73641874G>A | CA450912206 | SLC17A5 | c.342C>T (p.Ser114=) n.108C>T c.291C>T (p.Ser97=) c.144C>T (p.Ser48=) c.111C>T (p.Ser37=) c.363C>T (p.Ser121=) | |
6 | g.73641874G>C | CA450912208 | SLC17A5 | c.342C>G (p.Ser114=) n.108C>G c.291C>G (p.Ser97=) c.144C>G (p.Ser48=) c.111C>G (p.Ser37=) c.363C>G (p.Ser121=) | ClinVar dbSNP gnomAD v4 |
6 | g.73641874G>T | CA450912207 | SLC17A5 | c.342C>A (p.Ser114=) n.108C>A c.291C>A (p.Ser97=) c.144C>A (p.Ser48=) c.111C>A (p.Ser37=) c.363C>A (p.Ser121=) | |
6 | g.73641874_73641875delinsAA | CA645566860 | SLC17A5 | c.341_342delinsTT (p.Ser114Phe) n.107_108delinsTT c.290_291delinsTT (p.Ser97Phe) c.143_144delinsTT (p.Ser48Phe) c.110_111delinsTT (p.Ser37Phe) c.362_363delinsTT (p.Ser121Phe) | COSMIC |
6 | g.73641875G>A | CA364718275 | SLC17A5 | c.341C>T (p.Ser114Phe) n.107C>T c.290C>T (p.Ser97Phe) c.143C>T (p.Ser48Phe) c.110C>T (p.Ser37Phe) c.362C>T (p.Ser121Phe) | COSMIC |
6 | g.73641875G>C | CA364718277 | SLC17A5 | c.341C>G (p.Ser114Cys) n.107C>G c.290C>G (p.Ser97Cys) c.143C>G (p.Ser48Cys) c.110C>G (p.Ser37Cys) c.362C>G (p.Ser121Cys) | |
6 | g.73641875G= | CA1638223200 | SLC17A5 | c.341C= (p.Ser114=) n.107C= c.290C= (p.Ser97=) c.143C= (p.Ser48=) c.110C= (p.Ser37=) c.362C= (p.Ser121=) | |
6 | g.73641875G>T | CA364718276 | SLC17A5 | c.341C>A (p.Ser114Tyr) n.107C>A c.290C>A (p.Ser97Tyr) c.143C>A (p.Ser48Tyr) c.110C>A (p.Ser37Tyr) c.362C>A (p.Ser121Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641876A>C | CA364718278 | SLC17A5 | c.340T>G (p.Ser114Ala) n.106T>G c.289T>G (p.Ser97Ala) c.142T>G (p.Ser48Ala) c.109T>G (p.Ser37Ala) c.361T>G (p.Ser121Ala) | |
6 | g.73641876A>G | CA364718279 | SLC17A5 | c.340T>C (p.Ser114Pro) n.106T>C c.289T>C (p.Ser97Pro) c.142T>C (p.Ser48Pro) c.109T>C (p.Ser37Pro) c.361T>C (p.Ser121Pro) | |
6 | g.73641876A>T | CA364718280 | SLC17A5 | c.340T>A (p.Ser114Thr) n.106T>A c.289T>A (p.Ser97Thr) c.142T>A (p.Ser48Thr) c.109T>A (p.Ser37Thr) c.361T>A (p.Ser121Thr) | |
6 | g.73641877A>C | CA450912211 | SLC17A5 | c.339T>G (p.Gly113=) n.105T>G c.288T>G (p.Gly96=) c.141T>G (p.Gly47=) c.108T>G (p.Gly36=) c.360T>G (p.Gly120=) | |
6 | g.73641877A>G | CA450912210 | SLC17A5 | c.339T>C (p.Gly113=) n.105T>C c.288T>C (p.Gly96=) c.141T>C (p.Gly47=) c.108T>C (p.Gly36=) c.360T>C (p.Gly120=) | |
6 | g.73641877A>T | CA450912209 | SLC17A5 | c.339T>A (p.Gly113=) n.105T>A c.288T>A (p.Gly96=) c.141T>A (p.Gly47=) c.108T>A (p.Gly36=) c.360T>A (p.Gly120=) | |
6 | g.73641878C>A | CA364718281 | SLC17A5 | c.338G>T (p.Gly113Val) n.104G>T c.287G>T (p.Gly96Val) c.140G>T (p.Gly47Val) c.107G>T (p.Gly36Val) c.359G>T (p.Gly120Val) | |
6 | g.73641878C= | CA1638223206 | SLC17A5 | c.338G= (p.Gly113=) n.104G= c.287G= (p.Gly96=) c.140G= (p.Gly47=) c.107G= (p.Gly36=) c.359G= (p.Gly120=) | |
6 | g.73641878C>G | CA364718282 | SLC17A5 | c.338G>C (p.Gly113Ala) n.104G>C c.287G>C (p.Gly96Ala) c.140G>C (p.Gly47Ala) c.107G>C (p.Gly36Ala) c.359G>C (p.Gly120Ala) | |
6 | g.73641878C>T | CA3890552 | SLC17A5 | c.338G>A (p.Gly113Asp) n.104G>A c.287G>A (p.Gly96Asp) c.140G>A (p.Gly47Asp) c.107G>A (p.Gly36Asp) c.359G>A (p.Gly120Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641879C>A | CA364718283 | SLC17A5 | c.337G>T (p.Gly113Cys) n.103G>T c.286G>T (p.Gly96Cys) c.139G>T (p.Gly47Cys) c.106G>T (p.Gly36Cys) c.358G>T (p.Gly120Cys) | |
6 | g.73641879C= | CA1638223213 | SLC17A5 | c.337G= (p.Gly113=) n.103G= c.286G= (p.Gly96=) c.139G= (p.Gly47=) c.106G= (p.Gly36=) c.358G= (p.Gly120=) | |
6 | g.73641879C>G | CA364718284 | SLC17A5 | c.337G>C (p.Gly113Arg) n.103G>C c.286G>C (p.Gly96Arg) c.139G>C (p.Gly47Arg) c.106G>C (p.Gly36Arg) c.358G>C (p.Gly120Arg) | gnomAD v4 |
6 | g.73641879C>T | CA3890553 | SLC17A5 | c.337G>A (p.Gly113Ser) n.103G>A c.286G>A (p.Gly96Ser) c.139G>A (p.Gly47Ser) c.106G>A (p.Gly36Ser) c.358G>A (p.Gly120Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641880G>A | CA450912212 | SLC17A5 | c.336C>T (p.Leu112=) n.102C>T c.285C>T (p.Leu95=) c.138C>T (p.Leu46=) c.105C>T (p.Leu35=) c.357C>T (p.Leu119=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641880G>C | CA450912214 | SLC17A5 | c.336C>G (p.Leu112=) n.102C>G c.285C>G (p.Leu95=) c.138C>G (p.Leu46=) c.105C>G (p.Leu35=) c.357C>G (p.Leu119=) | gnomAD v4 |
6 | g.73641880G= | CA1638223215 | SLC17A5 | c.336C= (p.Leu112=) n.102C= c.285C= (p.Leu95=) c.138C= (p.Leu46=) c.105C= (p.Leu35=) c.357C= (p.Leu119=) | |
6 | g.73641880G>T | CA450912213 | SLC17A5 | c.336C>A (p.Leu112=) n.102C>A c.285C>A (p.Leu95=) c.138C>A (p.Leu46=) c.105C>A (p.Leu35=) c.357C>A (p.Leu119=) | |
6 | g.73641881A>C | CA364718285 | SLC17A5 | c.335T>G (p.Leu112Arg) n.101T>G c.284T>G (p.Leu95Arg) c.137T>G (p.Leu46Arg) c.104T>G (p.Leu35Arg) c.356T>G (p.Leu119Arg) | gnomAD v4 |
6 | g.73641881A>G | CA364718286 | SLC17A5 | c.335T>C (p.Leu112Pro) n.101T>C c.284T>C (p.Leu95Pro) c.137T>C (p.Leu46Pro) c.104T>C (p.Leu35Pro) c.356T>C (p.Leu119Pro) | |
6 | g.73641881A>T | CA364718287 | SLC17A5 | c.335T>A (p.Leu112His) n.101T>A c.284T>A (p.Leu95His) c.137T>A (p.Leu46His) c.104T>A (p.Leu35His) c.356T>A (p.Leu119His) | |
6 | g.73641882G>A | CA364718288 | SLC17A5 | c.334C>T (p.Leu112Phe) n.100C>T c.283C>T (p.Leu95Phe) c.136C>T (p.Leu46Phe) c.103C>T (p.Leu35Phe) c.355C>T (p.Leu119Phe) | gnomAD v4 |
6 | g.73641882G>C | CA364718290 | SLC17A5 | c.334C>G (p.Leu112Val) n.100C>G c.283C>G (p.Leu95Val) c.136C>G (p.Leu46Val) c.103C>G (p.Leu35Val) c.355C>G (p.Leu119Val) | |
6 | g.73641882G>T | CA364718289 | SLC17A5 | c.334C>A (p.Leu112Ile) n.100C>A c.283C>A (p.Leu95Ile) c.136C>A (p.Leu46Ile) c.103C>A (p.Leu35Ile) c.355C>A (p.Leu119Ile) | |
6 | g.73641883A>C | CA364718291 | SLC17A5 | c.333T>G (p.Ile111Met) n.99T>G c.282T>G (p.Ile94Met) c.135T>G (p.Ile45Met) c.102T>G (p.Ile34Met) c.354T>G (p.Ile118Met) | |
6 | g.73641883A>G | CA450912215 | SLC17A5 | c.333T>C (p.Ile111=) n.99T>C c.282T>C (p.Ile94=) c.135T>C (p.Ile45=) c.102T>C (p.Ile34=) c.354T>C (p.Ile118=) | |
6 | g.73641883A>T | CA450912216 | SLC17A5 | c.333T>A (p.Ile111=) n.99T>A c.282T>A (p.Ile94=) c.135T>A (p.Ile45=) c.102T>A (p.Ile34=) c.354T>A (p.Ile118=) | |
6 | g.73641884A>C | CA364718292 | SLC17A5 | c.332T>G (p.Ile111Ser) n.98T>G c.281T>G (p.Ile94Ser) c.134T>G (p.Ile45Ser) c.101T>G (p.Ile34Ser) c.353T>G (p.Ile118Ser) | |
6 | g.73641884A>G | CA364718293 | SLC17A5 | c.332T>C (p.Ile111Thr) n.98T>C c.281T>C (p.Ile94Thr) c.134T>C (p.Ile45Thr) c.101T>C (p.Ile34Thr) c.353T>C (p.Ile118Thr) | |
6 | g.73641884A>T | CA364718294 | SLC17A5 | c.332T>A (p.Ile111Asn) n.98T>A c.281T>A (p.Ile94Asn) c.134T>A (p.Ile45Asn) c.101T>A (p.Ile34Asn) c.353T>A (p.Ile118Asn) | |
6 | g.73641885T>A | CA364718295 | SLC17A5 | c.331A>T (p.Ile111Phe) n.97A>T c.280A>T (p.Ile94Phe) c.133A>T (p.Ile45Phe) c.100A>T (p.Ile34Phe) c.352A>T (p.Ile118Phe) | |
6 | g.73641885T>C | CA364718296 | SLC17A5 | c.331A>G (p.Ile111Val) n.97A>G c.280A>G (p.Ile94Val) c.133A>G (p.Ile45Val) c.100A>G (p.Ile34Val) c.352A>G (p.Ile118Val) | |
6 | g.73641885T>G | CA364718297 | SLC17A5 | c.331A>C (p.Ile111Leu) n.97A>C c.280A>C (p.Ile94Leu) c.133A>C (p.Ile45Leu) c.100A>C (p.Ile34Leu) c.352A>C (p.Ile118Leu) | |
6 | g.73641886C>A | CA364718298 | SLC17A5 | c.330G>T (p.Trp110Cys) n.96G>T c.279G>T (p.Trp93Cys) c.132G>T (p.Trp44Cys) c.99G>T (p.Trp33Cys) c.351G>T (p.Trp117Cys) | |
6 | g.73641886C= | CA1638223220 | SLC17A5 | c.330G= (p.Trp110=) n.96G= c.279G= (p.Trp93=) c.132G= (p.Trp44=) c.99G= (p.Trp33=) c.351G= (p.Trp117=) | |
6 | g.73641886C>G | CA140975760 | SLC17A5 | c.330G>C (p.Trp110Cys) n.96G>C c.279G>C (p.Trp93Cys) c.132G>C (p.Trp44Cys) c.99G>C (p.Trp33Cys) c.351G>C (p.Trp117Cys) | dbSNP |
6 | g.73641886C>T | CA364718299 | SLC17A5 | c.330G>A (p.Trp110Ter) n.96G>A c.279G>A (p.Trp93Ter) c.132G>A (p.Trp44Ter) c.99G>A (p.Trp33Ter) c.351G>A (p.Trp117Ter) | |
6 | g.73641887C>A | CA364718300 | SLC17A5 | c.329G>T (p.Trp110Leu) n.95G>T c.278G>T (p.Trp93Leu) c.131G>T (p.Trp44Leu) c.98G>T (p.Trp33Leu) c.350G>T (p.Trp117Leu) | |
6 | g.73641887C= | CA1638223223 | SLC17A5 | c.329G= (p.Trp110=) n.95G= c.278G= (p.Trp93=) c.131G= (p.Trp44=) c.98G= (p.Trp33=) c.350G= (p.Trp117=) | |
6 | g.73641887C>G | CA364718301 | SLC17A5 | c.329G>C (p.Trp110Ser) n.95G>C c.278G>C (p.Trp93Ser) c.131G>C (p.Trp44Ser) c.98G>C (p.Trp33Ser) c.350G>C (p.Trp117Ser) | |
6 | g.73641887C>T | CA364718302 | SLC17A5 | c.329G>A (p.Trp110Ter) n.95G>A c.278G>A (p.Trp93Ter) c.131G>A (p.Trp44Ter) c.98G>A (p.Trp33Ter) c.350G>A (p.Trp117Ter) | ClinVar dbSNP |
6 | g.73641888A= | CA1638223226 | SLC17A5 | c.328T= (p.Trp110=) n.94T= c.277T= (p.Trp93=) c.130T= (p.Trp44=) c.97T= (p.Trp33=) c.349T= (p.Trp117=) | |
6 | g.73641888A>C | CA364718303 | SLC17A5 | c.328T>G (p.Trp110Gly) n.94T>G c.277T>G (p.Trp93Gly) c.130T>G (p.Trp44Gly) c.97T>G (p.Trp33Gly) c.349T>G (p.Trp117Gly) | |
6 | g.73641888A>G | CA3890554 | SLC17A5 | c.328T>C (p.Trp110Arg) n.94T>C c.277T>C (p.Trp93Arg) c.130T>C (p.Trp44Arg) c.97T>C (p.Trp33Arg) c.349T>C (p.Trp117Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641888A>T | CA364718304 | SLC17A5 | c.328T>A (p.Trp110Arg) n.94T>A c.277T>A (p.Trp93Arg) c.130T>A (p.Trp44Arg) c.97T>A (p.Trp33Arg) c.349T>A (p.Trp117Arg) | |
6 | g.73641889T>A | CA450912217 | SLC17A5 | c.327A>T (p.Gly109=) n.93A>T c.276A>T (p.Gly92=) c.129A>T (p.Gly43=) c.96A>T (p.Gly32=) c.348A>T (p.Gly116=) | |
6 | g.73641889T>C | CA450912218 | SLC17A5 | c.327A>G (p.Gly109=) n.93A>G c.276A>G (p.Gly92=) c.129A>G (p.Gly43=) c.96A>G (p.Gly32=) c.348A>G (p.Gly116=) | gnomAD v4 |
6 | g.73641889T>G | CA450912219 | SLC17A5 | c.327A>C (p.Gly109=) n.93A>C c.276A>C (p.Gly92=) c.129A>C (p.Gly43=) c.96A>C (p.Gly32=) c.348A>C (p.Gly116=) | |
6 | g.73641890C>A | CA364718305 | SLC17A5 | c.326G>T (p.Gly109Val) n.92G>T c.275G>T (p.Gly92Val) c.128G>T (p.Gly43Val) c.95G>T (p.Gly32Val) c.347G>T (p.Gly116Val) | |
6 | g.73641890C>G | CA364718306 | SLC17A5 | c.326G>C (p.Gly109Ala) n.92G>C c.275G>C (p.Gly92Ala) c.128G>C (p.Gly43Ala) c.95G>C (p.Gly32Ala) c.347G>C (p.Gly116Ala) | |
6 | g.73641890C>T | CA364718307 | SLC17A5 | c.326G>A (p.Gly109Glu) n.92G>A c.275G>A (p.Gly92Glu) c.128G>A (p.Gly43Glu) c.95G>A (p.Gly32Glu) c.347G>A (p.Gly116Glu) | |
6 | g.73641891C>A | CA364718308 | SLC17A5 | c.325G>T (p.Gly109Ter) n.91G>T c.274G>T (p.Gly92Ter) c.127G>T (p.Gly43Ter) c.94G>T (p.Gly32Ter) c.346G>T (p.Gly116Ter) | |
6 | g.73641891C>G | CA364718309 | SLC17A5 | c.325G>C (p.Gly109Arg) n.91G>C c.274G>C (p.Gly92Arg) c.127G>C (p.Gly43Arg) c.94G>C (p.Gly32Arg) c.346G>C (p.Gly116Arg) | |
6 | g.73641891C>T | CA364718310 | SLC17A5 | c.325G>A (p.Gly109Arg) n.91G>A c.274G>A (p.Gly92Arg) c.127G>A (p.Gly43Arg) c.94G>A (p.Gly32Arg) c.346G>A (p.Gly116Arg) | |
6 | g.73641892T>A | CA364718311 | SLC17A5 | c.324A>T (p.Gln108His) n.90A>T c.273A>T (p.Gln91His) c.126A>T (p.Gln42His) c.93A>T (p.Gln31His) c.345A>T (p.Gln115His) | |
6 | g.73641892T>C | CA450912220 | SLC17A5 | c.324A>G (p.Gln108=) n.90A>G c.273A>G (p.Gln91=) c.126A>G (p.Gln42=) c.93A>G (p.Gln31=) c.345A>G (p.Gln115=) | gnomAD v4 |
6 | g.73641892T>G | CA364718312 | SLC17A5 | c.324A>C (p.Gln108His) n.90A>C c.273A>C (p.Gln91His) c.126A>C (p.Gln42His) c.93A>C (p.Gln31His) c.345A>C (p.Gln115His) | |
6 | g.73641893T>A | CA364718313 | SLC17A5 | c.323A>T (p.Gln108Leu) n.89A>T c.272A>T (p.Gln91Leu) c.125A>T (p.Gln42Leu) c.92A>T (p.Gln31Leu) c.344A>T (p.Gln115Leu) | |
6 | g.73641893T>C | CA364718314 | SLC17A5 | c.323A>G (p.Gln108Arg) n.89A>G c.272A>G (p.Gln91Arg) c.125A>G (p.Gln42Arg) c.92A>G (p.Gln31Arg) c.344A>G (p.Gln115Arg) | |
6 | g.73641893T>G | CA364718315 | SLC17A5 | c.323A>C (p.Gln108Pro) n.89A>C c.272A>C (p.Gln91Pro) c.125A>C (p.Gln42Pro) c.92A>C (p.Gln31Pro) c.344A>C (p.Gln115Pro) | |
6 | g.73641894G>A | CA364718317 | SLC17A5 | c.322C>T (p.Gln108Ter) n.88C>T c.271C>T (p.Gln91Ter) c.124C>T (p.Gln42Ter) c.91C>T (p.Gln31Ter) c.343C>T (p.Gln115Ter) | ClinVar |
6 | g.73641894G>C | CA364718318 | SLC17A5 | c.322C>G (p.Gln108Glu) n.88C>G c.271C>G (p.Gln91Glu) c.124C>G (p.Gln42Glu) c.91C>G (p.Gln31Glu) c.343C>G (p.Gln115Glu) | |
6 | g.73641894G>T | CA364718316 | SLC17A5 | c.322C>A (p.Gln108Lys) n.88C>A c.271C>A (p.Gln91Lys) c.124C>A (p.Gln42Lys) c.91C>A (p.Gln31Lys) c.343C>A (p.Gln115Lys) | gnomAD v4 |
6 | g.73641894_73641895insTATAAGAGAC | CA2580075806 | SLC17A5 | c.321_322insGTCTCTTATA (p.Gln108ValfsTer?) n.87_88insGTCTCTTATA c.270_271insGTCTCTTATA (p.Gln91ValfsTer?) c.123_124insGTCTCTTATA (p.Gln42ValfsTer?) c.90_91insGTCTCTTATA (p.Gln31ValfsTer?) c.342_343insGTCTCTTATA (p.Gln115ValfsTer?) | ClinVar |
6 | g.73641895A>C | CA450912221 | SLC17A5 | c.321T>G (p.Thr107=) n.87T>G c.270T>G (p.Thr90=) c.123T>G (p.Thr41=) c.90T>G (p.Thr30=) c.342T>G (p.Thr114=) | ClinVar gnomAD v4 |
6 | g.73641895A>G | CA450912223 | SLC17A5 | c.321T>C (p.Thr107=) n.87T>C c.270T>C (p.Thr90=) c.123T>C (p.Thr41=) c.90T>C (p.Thr30=) c.342T>C (p.Thr114=) | |
6 | g.73641895A>T | CA450912222 | SLC17A5 | c.321T>A (p.Thr107=) n.87T>A c.270T>A (p.Thr90=) c.123T>A (p.Thr41=) c.90T>A (p.Thr30=) c.342T>A (p.Thr114=) | |
6 | g.73641896G>A | CA364718319 | SLC17A5 | c.320C>T (p.Thr107Ile) n.86C>T c.269C>T (p.Thr90Ile) c.122C>T (p.Thr41Ile) c.89C>T (p.Thr30Ile) c.341C>T (p.Thr114Ile) | |
6 | g.73641896G>C | CA364718321 | SLC17A5 | c.320C>G (p.Thr107Ser) n.86C>G c.269C>G (p.Thr90Ser) c.122C>G (p.Thr41Ser) c.89C>G (p.Thr30Ser) c.341C>G (p.Thr114Ser) | |
6 | g.73641896G>T | CA364718320 | SLC17A5 | c.320C>A (p.Thr107Asn) n.86C>A c.269C>A (p.Thr90Asn) c.122C>A (p.Thr41Asn) c.89C>A (p.Thr30Asn) c.341C>A (p.Thr114Asn) | |
6 | g.73641897T>A | CA364718322 | SLC17A5 | c.319A>T (p.Thr107Ser) n.85A>T c.268A>T (p.Thr90Ser) c.121A>T (p.Thr41Ser) c.88A>T (p.Thr30Ser) c.340A>T (p.Thr114Ser) | |
6 | g.73641897T>C | CA364718324 | SLC17A5 | c.319A>G (p.Thr107Ala) n.85A>G c.268A>G (p.Thr90Ala) c.121A>G (p.Thr41Ala) c.88A>G (p.Thr30Ala) c.340A>G (p.Thr114Ala) | |
6 | g.73641897T>G | CA364718323 | SLC17A5 | c.319A>C (p.Thr107Pro) n.85A>C c.268A>C (p.Thr90Pro) c.121A>C (p.Thr41Pro) c.88A>C (p.Thr30Pro) c.340A>C (p.Thr114Pro) | |
6 | g.73641898T>A | CA364718325 | SLC17A5 | c.318A>T (p.Glu106Asp) n.84A>T c.267A>T (p.Glu89Asp) c.120A>T (p.Glu40Asp) c.87A>T (p.Glu29Asp) c.339A>T (p.Glu113Asp) | |
6 | g.73641898T>C | CA450912224 | SLC17A5 | c.318A>G (p.Glu106=) n.84A>G c.267A>G (p.Glu89=) c.120A>G (p.Glu40=) c.87A>G (p.Glu29=) c.339A>G (p.Glu113=) | |
6 | g.73641898T>G | CA364718326 | SLC17A5 | c.318A>C (p.Glu106Asp) n.84A>C c.267A>C (p.Glu89Asp) c.120A>C (p.Glu40Asp) c.87A>C (p.Glu29Asp) c.339A>C (p.Glu113Asp) | |
6 | g.73641899T>A | CA364718327 | SLC17A5 | c.317A>T (p.Glu106Val) n.83A>T c.266A>T (p.Glu89Val) c.119A>T (p.Glu40Val) c.86A>T (p.Glu29Val) c.338A>T (p.Glu113Val) | |
6 | g.73641899T>C | CA364718328 | SLC17A5 | c.317A>G (p.Glu106Gly) n.83A>G c.266A>G (p.Glu89Gly) c.119A>G (p.Glu40Gly) c.86A>G (p.Glu29Gly) c.338A>G (p.Glu113Gly) | |
6 | g.73641899T>G | CA364718329 | SLC17A5 | c.317A>C (p.Glu106Ala) n.83A>C c.266A>C (p.Glu89Ala) c.119A>C (p.Glu40Ala) c.86A>C (p.Glu29Ala) c.338A>C (p.Glu113Ala) | |
6 | g.73641900C>A | CA364718330 | SLC17A5 | c.316G>T (p.Glu106Ter) n.82G>T c.265G>T (p.Glu89Ter) c.118G>T (p.Glu40Ter) c.85G>T (p.Glu29Ter) c.337G>T (p.Glu113Ter) | |
6 | g.73641900C>G | CA364718331 | SLC17A5 | c.316G>C (p.Glu106Gln) n.82G>C c.265G>C (p.Glu89Gln) c.118G>C (p.Glu40Gln) c.85G>C (p.Glu29Gln) c.337G>C (p.Glu113Gln) | |
6 | g.73641900C>T | CA364718332 | SLC17A5 | c.316G>A (p.Glu106Lys) n.82G>A c.265G>A (p.Glu89Lys) c.118G>A (p.Glu40Lys) c.85G>A (p.Glu29Lys) c.337G>A (p.Glu113Lys) | ClinVar |
6 | g.73641901T>A | CA450912225 | SLC17A5 | c.315A>T (p.Ala105=) n.81A>T c.264A>T (p.Ala88=) c.117A>T (p.Ala39=) c.84A>T (p.Ala28=) c.336A>T (p.Ala112=) | |
6 | g.73641901T>C | CA450912226 | SLC17A5 | c.315A>G (p.Ala105=) n.81A>G c.264A>G (p.Ala88=) c.117A>G (p.Ala39=) c.84A>G (p.Ala28=) c.336A>G (p.Ala112=) | |
6 | g.73641901T>G | CA450912227 | SLC17A5 | c.315A>C (p.Ala105=) n.81A>C c.264A>C (p.Ala88=) c.117A>C (p.Ala39=) c.84A>C (p.Ala28=) c.336A>C (p.Ala112=) | |
6 | g.73641902G>A | CA364718333 | SLC17A5 | c.314C>T (p.Ala105Val) n.80C>T c.263C>T (p.Ala88Val) c.116C>T (p.Ala39Val) c.83C>T (p.Ala28Val) c.335C>T (p.Ala112Val) | |
6 | g.73641902G>C | CA364718334 | SLC17A5 | c.314C>G (p.Ala105Gly) n.80C>G c.263C>G (p.Ala88Gly) c.116C>G (p.Ala39Gly) c.83C>G (p.Ala28Gly) c.335C>G (p.Ala112Gly) | |
6 | g.73641902G>T | CA364718335 | SLC17A5 | c.314C>A (p.Ala105Glu) n.80C>A c.263C>A (p.Ala88Glu) c.116C>A (p.Ala39Glu) c.83C>A (p.Ala28Glu) c.335C>A (p.Ala112Glu) | |
6 | g.73641903C>A | CA364718336 | SLC17A5 | c.313G>T (p.Ala105Ser) n.79G>T c.262G>T (p.Ala88Ser) c.115G>T (p.Ala39Ser) c.82G>T (p.Ala28Ser) c.334G>T (p.Ala112Ser) | |
6 | g.73641903C>G | CA364718337 | SLC17A5 | c.313G>C (p.Ala105Pro) n.79G>C c.262G>C (p.Ala88Pro) c.115G>C (p.Ala39Pro) c.82G>C (p.Ala28Pro) c.334G>C (p.Ala112Pro) | |
6 | g.73641903C>T | CA364718338 | SLC17A5 | c.313G>A (p.Ala105Thr) n.79G>A c.262G>A (p.Ala88Thr) c.115G>A (p.Ala39Thr) c.82G>A (p.Ala28Thr) c.334G>A (p.Ala112Thr) | |
6 | g.73641904A>C | CA364718339 | SLC17A5 | c.312T>G (p.Asp104Glu) n.78T>G c.261T>G (p.Asp87Glu) c.114T>G (p.Asp38Glu) c.81T>G (p.Asp27Glu) c.333T>G (p.Asp111Glu) | |
6 | g.73641904A>G | CA450912228 | SLC17A5 | c.312T>C (p.Asp104=) n.78T>C c.261T>C (p.Asp87=) c.114T>C (p.Asp38=) c.81T>C (p.Asp27=) c.333T>C (p.Asp111=) | |
6 | g.73641904A>T | CA364718340 | SLC17A5 | c.312T>A (p.Asp104Glu) n.78T>A c.261T>A (p.Asp87Glu) c.114T>A (p.Asp38Glu) c.81T>A (p.Asp27Glu) c.333T>A (p.Asp111Glu) | |
6 | g.73641905T>A | CA364718341 | SLC17A5 | c.311A>T (p.Asp104Val) n.77A>T c.260A>T (p.Asp87Val) c.113A>T (p.Asp38Val) c.80A>T (p.Asp27Val) c.332A>T (p.Asp111Val) | gnomAD v4 |
6 | g.73641905T>C | CA364718342 | SLC17A5 | c.311A>G (p.Asp104Gly) n.77A>G c.260A>G (p.Asp87Gly) c.113A>G (p.Asp38Gly) c.80A>G (p.Asp27Gly) c.332A>G (p.Asp111Gly) | |
6 | g.73641905T>G | CA364718343 | SLC17A5 | c.311A>C (p.Asp104Ala) n.77A>C c.260A>C (p.Asp87Ala) c.113A>C (p.Asp38Ala) c.80A>C (p.Asp27Ala) c.332A>C (p.Asp111Ala) | |
6 | g.73641905_73641922delinsTCCCATTGGTACTTCTTA | CA1638223232 | SLC17A5 | c.294_311delinsTAAGAAGTACCAATGGGA (p.Gly98=) n.60_77delinsTAAGAAGTACCAATGGGA c.243_260delinsTAAGAAGTACCAATGGGA (p.Gly81=) c.96_113delinsTAAGAAGTACCAATGGGA (p.Gly32=) c.63_80delinsTAAGAAGTACCAATGGGA (p.Gly21=) c.315_332delinsTAAGAAGTACCAATGGGA (p.Gly105=) | |
6 | g.73641906C>A | CA364718344 | SLC17A5 | c.310G>T (p.Asp104Tyr) n.76G>T c.259G>T (p.Asp87Tyr) c.112G>T (p.Asp38Tyr) c.79G>T (p.Asp27Tyr) c.331G>T (p.Asp111Tyr) | |
6 | g.73641906C>G | CA364718345 | SLC17A5 | c.310G>C (p.Asp104His) n.76G>C c.259G>C (p.Asp87His) c.112G>C (p.Asp38His) c.79G>C (p.Asp27His) c.331G>C (p.Asp111His) | |
6 | g.73641906C>T | CA364718346 | SLC17A5 | c.310G>A (p.Asp104Asn) n.76G>A c.259G>A (p.Asp87Asn) c.112G>A (p.Asp38Asn) c.79G>A (p.Asp27Asn) c.331G>A (p.Asp111Asn) | ClinVar dbSNP gnomAD v4 |
6 | g.73641909_73641925del | CA827974943 | SLC17A5 | c.294_310del n.60_76del c.243_259del c.96_112del c.63_79del c.315_331del | ClinVar dbSNP gnomAD v4 |
6 | g.73641907C>A | CA364718347 | SLC17A5 | c.309G>T (p.Trp103Cys) n.75G>T c.258G>T (p.Trp86Cys) c.111G>T (p.Trp37Cys) c.78G>T (p.Trp26Cys) c.330G>T (p.Trp110Cys) | |
6 | g.73641907C= | CA1638223238 | SLC17A5 | c.309G= (p.Trp103=) n.75G= c.258G= (p.Trp86=) c.111G= (p.Trp37=) c.78G= (p.Trp26=) c.330G= (p.Trp110=) | |
6 | g.73641907C>G | CA364718348 | SLC17A5 | c.309G>C (p.Trp103Cys) n.75G>C c.258G>C (p.Trp86Cys) c.111G>C (p.Trp37Cys) c.78G>C (p.Trp26Cys) c.330G>C (p.Trp110Cys) | |
6 | g.73641907C>T | CA263925 | SLC17A5 | c.309G>A (p.Trp103Ter) n.75G>A c.258G>A (p.Trp86Ter) c.111G>A (p.Trp37Ter) c.78G>A (p.Trp26Ter) c.330G>A (p.Trp110Ter) | ClinVar dbSNP |
6 | g.73641908C>A | CA364718349 | SLC17A5 | c.308G>T (p.Trp103Leu) n.74G>T c.257G>T (p.Trp86Leu) c.110G>T (p.Trp37Leu) c.77G>T (p.Trp26Leu) c.329G>T (p.Trp110Leu) | dbSNP gnomAD v2 |
6 | g.73641908C= | CA1638223243 | SLC17A5 | c.308G= (p.Trp103=) n.74G= c.257G= (p.Trp86=) c.110G= (p.Trp37=) c.77G= (p.Trp26=) c.329G= (p.Trp110=) | |
6 | g.73641908C>G | CA364718350 | SLC17A5 | c.308G>C (p.Trp103Ser) n.74G>C c.257G>C (p.Trp86Ser) c.110G>C (p.Trp37Ser) c.77G>C (p.Trp26Ser) c.329G>C (p.Trp110Ser) | |
6 | g.73641908C>T | CA364718351 | SLC17A5 | c.308G>A (p.Trp103Ter) n.74G>A c.257G>A (p.Trp86Ter) c.110G>A (p.Trp37Ter) c.77G>A (p.Trp26Ter) c.329G>A (p.Trp110Ter) | ClinVar |
6 | g.73641909A= | CA1638223248 | SLC17A5 | c.307T= (p.Trp103=) n.73T= c.256T= (p.Trp86=) c.109T= (p.Trp37=) c.76T= (p.Trp26=) c.328T= (p.Trp110=) | |
6 | g.73641909A>C | CA364718352 | SLC17A5 | c.307T>G (p.Trp103Gly) n.73T>G c.256T>G (p.Trp86Gly) c.109T>G (p.Trp37Gly) c.76T>G (p.Trp26Gly) c.328T>G (p.Trp110Gly) | |
6 | g.73641909A>G | CA364718354 | SLC17A5 | c.307T>C (p.Trp103Arg) n.73T>C c.256T>C (p.Trp86Arg) c.109T>C (p.Trp37Arg) c.76T>C (p.Trp26Arg) c.328T>C (p.Trp110Arg) | dbSNP |
6 | g.73641909A>T | CA364718353 | SLC17A5 | c.307T>A (p.Trp103Arg) n.73T>A c.256T>A (p.Trp86Arg) c.109T>A (p.Trp37Arg) c.76T>A (p.Trp26Arg) c.328T>A (p.Trp110Arg) | |
6 | g.73641910T>A | CA364718355 | SLC17A5 | c.306A>T (p.Gln102His) n.72A>T c.255A>T (p.Gln85His) c.108A>T (p.Gln36His) c.75A>T (p.Gln25His) c.327A>T (p.Gln109His) | |
6 | g.73641910T>C | CA450912232 | SLC17A5 | c.306A>G (p.Gln102=) n.72A>G c.255A>G (p.Gln85=) c.108A>G (p.Gln36=) c.75A>G (p.Gln25=) c.327A>G (p.Gln109=) | ClinVar dbSNP gnomAD v4 |
6 | g.73641910T>G | CA364718356 | SLC17A5 | c.306A>C (p.Gln102His) n.72A>C c.255A>C (p.Gln85His) c.108A>C (p.Gln36His) c.75A>C (p.Gln25His) c.327A>C (p.Gln109His) | |
6 | g.73641911T>A | CA364718357 | SLC17A5 | c.305A>T (p.Gln102Leu) n.71A>T c.254A>T (p.Gln85Leu) c.107A>T (p.Gln36Leu) c.74A>T (p.Gln25Leu) c.326A>T (p.Gln109Leu) | |
6 | g.73641911T>C | CA364718358 | SLC17A5 | c.305A>G (p.Gln102Arg) n.71A>G c.254A>G (p.Gln85Arg) c.107A>G (p.Gln36Arg) c.74A>G (p.Gln25Arg) c.326A>G (p.Gln109Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641911T>G | CA364718359 | SLC17A5 | c.305A>C (p.Gln102Pro) n.71A>C c.254A>C (p.Gln85Pro) c.107A>C (p.Gln36Pro) c.74A>C (p.Gln25Pro) c.326A>C (p.Gln109Pro) | |
6 | g.73641911T= | CA1638223251 | SLC17A5 | c.305A= (p.Gln102=) n.71A= c.254A= (p.Gln85=) c.107A= (p.Gln36=) c.74A= (p.Gln25=) c.326A= (p.Gln109=) | |
6 | g.73641912G>A | CA364718360 | SLC17A5 | c.304C>T (p.Gln102Ter) n.70C>T c.253C>T (p.Gln85Ter) c.106C>T (p.Gln36Ter) c.73C>T (p.Gln25Ter) c.325C>T (p.Gln109Ter) | |
6 | g.73641912G>C | CA364718361 | SLC17A5 | c.304C>G (p.Gln102Glu) n.70C>G c.253C>G (p.Gln85Glu) c.106C>G (p.Gln36Glu) c.73C>G (p.Gln25Glu) c.325C>G (p.Gln109Glu) | |
6 | g.73641912G= | CA1638223254 | SLC17A5 | c.304C= (p.Gln102=) n.70C= c.253C= (p.Gln85=) c.106C= (p.Gln36=) c.73C= (p.Gln25=) c.325C= (p.Gln109=) | |
6 | g.73641912G>T | CA364718362 | SLC17A5 | c.304C>A (p.Gln102Lys) n.70C>A c.253C>A (p.Gln85Lys) c.106C>A (p.Gln36Lys) c.73C>A (p.Gln25Lys) c.325C>A (p.Gln109Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641913G>A | CA450912233 | SLC17A5 | c.303C>T (p.Tyr101=) n.69C>T c.252C>T (p.Tyr84=) c.105C>T (p.Tyr35=) c.72C>T (p.Tyr24=) c.324C>T (p.Tyr108=) | |
6 | g.73641913G>C | CA364718363 | SLC17A5 | c.303C>G (p.Tyr101Ter) n.69C>G c.252C>G (p.Tyr84Ter) c.105C>G (p.Tyr35Ter) c.72C>G (p.Tyr24Ter) c.324C>G (p.Tyr108Ter) | |
6 | g.73641913G>T | CA364718364 | SLC17A5 | c.303C>A (p.Tyr101Ter) n.69C>A c.252C>A (p.Tyr84Ter) c.105C>A (p.Tyr35Ter) c.72C>A (p.Tyr24Ter) c.324C>A (p.Tyr108Ter) | |
6 | g.73641914T>A | CA364718367 | SLC17A5 | c.302A>T (p.Tyr101Phe) n.68A>T c.251A>T (p.Tyr84Phe) c.104A>T (p.Tyr35Phe) c.71A>T (p.Tyr24Phe) c.323A>T (p.Tyr108Phe) | dbSNP |
6 | g.73641914T>C | CA364718366 | SLC17A5 | c.302A>G (p.Tyr101Cys) n.68A>G c.251A>G (p.Tyr84Cys) c.104A>G (p.Tyr35Cys) c.71A>G (p.Tyr24Cys) c.323A>G (p.Tyr108Cys) | |
6 | g.73641914T>G | CA364718365 | SLC17A5 | c.302A>C (p.Tyr101Ser) n.68A>C c.251A>C (p.Tyr84Ser) c.104A>C (p.Tyr35Ser) c.71A>C (p.Tyr24Ser) c.323A>C (p.Tyr108Ser) | |
6 | g.73641915A= | CA1638223258 | SLC17A5 | c.301T= (p.Tyr101=) n.67T= c.250T= (p.Tyr84=) c.103T= (p.Tyr35=) c.70T= (p.Tyr24=) c.322T= (p.Tyr108=) | |
6 | g.73641915A>C | CA364718368 | SLC17A5 | c.301T>G (p.Tyr101Asp) n.67T>G c.250T>G (p.Tyr84Asp) c.103T>G (p.Tyr35Asp) c.70T>G (p.Tyr24Asp) c.322T>G (p.Tyr108Asp) | |
6 | g.73641915A>G | CA364718369 | SLC17A5 | c.301T>C (p.Tyr101His) n.67T>C c.250T>C (p.Tyr84His) c.103T>C (p.Tyr35His) c.70T>C (p.Tyr24His) c.322T>C (p.Tyr108His) | |
6 | g.73641915A>T | CA364718370 | SLC17A5 | c.301T>A (p.Tyr101Asn) n.67T>A c.250T>A (p.Tyr84Asn) c.103T>A (p.Tyr35Asn) c.70T>A (p.Tyr24Asn) c.322T>A (p.Tyr108Asn) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73641916C>A | CA364718371 | SLC17A5 | c.300G>T (p.Lys100Asn) n.66G>T c.249G>T (p.Lys83Asn) c.102G>T (p.Lys34Asn) c.69G>T (p.Lys23Asn) c.321G>T (p.Lys107Asn) | |
6 | g.73641916C= | CA1638223265 | SLC17A5 | c.300G= (p.Lys100=) n.66G= c.249G= (p.Lys83=) c.102G= (p.Lys34=) c.69G= (p.Lys23=) c.321G= (p.Lys107=) | |
6 | g.73641916C>G | CA364718372 | SLC17A5 | c.300G>C (p.Lys100Asn) n.66G>C c.249G>C (p.Lys83Asn) c.102G>C (p.Lys34Asn) c.69G>C (p.Lys23Asn) c.321G>C (p.Lys107Asn) | gnomAD v4 |
6 | g.73641916C>T | CA3890555 | SLC17A5 | c.300G>A (p.Lys100=) n.66G>A c.249G>A (p.Lys83=) c.102G>A (p.Lys34=) c.69G>A (p.Lys23=) c.321G>A (p.Lys107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641917T>A | CA364718373 | SLC17A5 | c.299A>T (p.Lys100Met) n.65A>T c.248A>T (p.Lys83Met) c.101A>T (p.Lys34Met) c.68A>T (p.Lys23Met) c.320A>T (p.Lys107Met) | |
6 | g.73641917T>C | CA364718374 | SLC17A5 | c.299A>G (p.Lys100Arg) n.65A>G c.248A>G (p.Lys83Arg) c.101A>G (p.Lys34Arg) c.68A>G (p.Lys23Arg) c.320A>G (p.Lys107Arg) | |
6 | g.73641917T>G | CA364718375 | SLC17A5 | c.299A>C (p.Lys100Thr) n.65A>C c.248A>C (p.Lys83Thr) c.101A>C (p.Lys34Thr) c.68A>C (p.Lys23Thr) c.320A>C (p.Lys107Thr) | |
6 | g.73641918T>A | CA364718376 | SLC17A5 | c.298A>T (p.Lys100Ter) n.64A>T c.247A>T (p.Lys83Ter) c.100A>T (p.Lys34Ter) c.67A>T (p.Lys23Ter) c.319A>T (p.Lys107Ter) | |
6 | g.73641918T>C | CA364718377 | SLC17A5 | c.298A>G (p.Lys100Glu) n.64A>G c.247A>G (p.Lys83Glu) c.100A>G (p.Lys34Glu) c.67A>G (p.Lys23Glu) c.319A>G (p.Lys107Glu) | |
6 | g.73641918T>G | CA364718378 | SLC17A5 | c.298A>C (p.Lys100Gln) n.64A>C c.247A>C (p.Lys83Gln) c.100A>C (p.Lys34Gln) c.67A>C (p.Lys23Gln) c.319A>C (p.Lys107Gln) | |
6 | g.73641919C>A | CA364718379 | SLC17A5 | c.297G>T (p.Lys99Asn) n.63G>T c.246G>T (p.Lys82Asn) c.99G>T (p.Lys33Asn) c.66G>T (p.Lys22Asn) c.318G>T (p.Lys106Asn) | |
6 | g.73641919C= | CA1638223273 | SLC17A5 | c.297G= (p.Lys99=) n.63G= c.246G= (p.Lys82=) c.99G= (p.Lys33=) c.66G= (p.Lys22=) c.318G= (p.Lys106=) | |
6 | g.73641919C>G | CA364718380 | SLC17A5 | c.297G>C (p.Lys99Asn) n.63G>C c.246G>C (p.Lys82Asn) c.99G>C (p.Lys33Asn) c.66G>C (p.Lys22Asn) c.318G>C (p.Lys106Asn) | |
6 | g.73641919C>T | CA3890556 | SLC17A5 | c.297G>A (p.Lys99=) n.63G>A c.246G>A (p.Lys82=) c.99G>A (p.Lys33=) c.66G>A (p.Lys22=) c.318G>A (p.Lys106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.73641920T>A | CA364718382 | SLC17A5 | c.296A>T (p.Lys99Met) n.62A>T c.245A>T (p.Lys82Met) c.98A>T (p.Lys33Met) c.65A>T (p.Lys22Met) c.317A>T (p.Lys106Met) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641920T>C | CA3890557 | SLC17A5 | c.296A>G (p.Lys99Arg) n.62A>G c.245A>G (p.Lys82Arg) c.98A>G (p.Lys33Arg) c.65A>G (p.Lys22Arg) c.317A>G (p.Lys106Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641920T>G | CA364718381 | SLC17A5 | c.296A>C (p.Lys99Thr) n.62A>C c.245A>C (p.Lys82Thr) c.98A>C (p.Lys33Thr) c.65A>C (p.Lys22Thr) c.317A>C (p.Lys106Thr) | |
6 | g.73641920T= | CA1638223281 | SLC17A5 | c.296A= (p.Lys99=) n.62A= c.245A= (p.Lys82=) c.98A= (p.Lys33=) c.65A= (p.Lys22=) c.317A= (p.Lys106=) | |
6 | g.73641921T>A | CA364718383 | SLC17A5 | c.295A>T (p.Lys99Ter) n.61A>T c.244A>T (p.Lys82Ter) c.97A>T (p.Lys33Ter) c.64A>T (p.Lys22Ter) c.316A>T (p.Lys106Ter) | |
6 | g.73641921T>C | CA3890558 | SLC17A5 | c.295A>G (p.Lys99Glu) n.61A>G c.244A>G (p.Lys82Glu) c.97A>G (p.Lys33Glu) c.64A>G (p.Lys22Glu) c.316A>G (p.Lys106Glu) | dbSNP ExAC gnomAD v4 |
6 | g.73641921T>G | CA364718384 | SLC17A5 | c.295A>C (p.Lys99Gln) n.61A>C c.244A>C (p.Lys82Gln) c.97A>C (p.Lys33Gln) c.64A>C (p.Lys22Gln) c.316A>C (p.Lys106Gln) | |
6 | g.73641921T= | CA1638223284 | SLC17A5 | c.295A= (p.Lys99=) n.61A= c.244A= (p.Lys82=) c.97A= (p.Lys33=) c.64A= (p.Lys22=) c.316A= (p.Lys106=) | |
6 | g.73641922A>C | CA450912237 | SLC17A5 | c.294T>G (p.Gly98=) n.60T>G c.243T>G (p.Gly81=) c.96T>G (p.Gly32=) c.63T>G (p.Gly21=) c.315T>G (p.Gly105=) | |
6 | g.73641922A>G | CA450912235 | SLC17A5 | c.294T>C (p.Gly98=) n.60T>C c.243T>C (p.Gly81=) c.96T>C (p.Gly32=) c.63T>C (p.Gly21=) c.315T>C (p.Gly105=) | ClinVar dbSNP |
6 | g.73641922A>T | CA450912236 | SLC17A5 | c.294T>A (p.Gly98=) n.60T>A c.243T>A (p.Gly81=) c.96T>A (p.Gly32=) c.63T>A (p.Gly21=) c.315T>A (p.Gly105=) | |
6 | g.73641923C>A | CA364718387 | SLC17A5 | c.293G>T (p.Gly98Val) n.59G>T c.242G>T (p.Gly81Val) c.95G>T (p.Gly32Val) c.62G>T (p.Gly21Val) c.314G>T (p.Gly105Val) | gnomAD v4 |
6 | g.73641923C= | CA1638223285 | SLC17A5 | c.293G= (p.Gly98=) n.59G= c.242G= (p.Gly81=) c.95G= (p.Gly32=) c.62G= (p.Gly21=) c.314G= (p.Gly105=) | |
6 | g.73641923C>G | CA364718386 | SLC17A5 | c.293G>C (p.Gly98Ala) n.59G>C c.242G>C (p.Gly81Ala) c.95G>C (p.Gly32Ala) c.62G>C (p.Gly21Ala) c.314G>C (p.Gly105Ala) | |
6 | g.73641923C>T | CA364718385 | SLC17A5 | c.293G>A (p.Gly98Asp) n.59G>A c.242G>A (p.Gly81Asp) c.95G>A (p.Gly32Asp) c.62G>A (p.Gly21Asp) c.314G>A (p.Gly105Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641924C>A | CA364718388 | SLC17A5 | c.292G>T (p.Gly98Cys) n.58G>T c.241G>T (p.Gly81Cys) c.94G>T (p.Gly32Cys) c.61G>T (p.Gly21Cys) c.313G>T (p.Gly105Cys) | |
6 | g.73641924C>G | CA364718389 | SLC17A5 | c.292G>C (p.Gly98Arg) n.58G>C c.241G>C (p.Gly81Arg) c.94G>C (p.Gly32Arg) c.61G>C (p.Gly21Arg) c.313G>C (p.Gly105Arg) | |
6 | g.73641924C>T | CA364718390 | SLC17A5 | c.292G>A (p.Gly98Ser) n.58G>A c.241G>A (p.Gly81Ser) c.94G>A (p.Gly32Ser) c.61G>A (p.Gly21Ser) c.313G>A (p.Gly105Ser) | |
6 | g.73641925C>A | CA364718391 | SLC17A5 | c.292-1G>T (n.292-1G>T) n.58-1G>T c.241-1G>T (n.241-1G>T) c.94-1G>T (n.94-1G>T) c.61-1G>T (n.61-1G>T) c.313-1G>T (n.313-1G>T) | |
6 | g.73641925C= | CA1638223286 | SLC17A5 | c.292-1G= (n.292-1G=) n.58-1G= c.241-1G= (n.241-1G=) c.94-1G= (n.94-1G=) c.61-1G= (n.61-1G=) c.313-1G= (n.313-1G=) | |
6 | g.73641925C>G | CA364718392 | SLC17A5 | c.292-1G>C (n.292-1G>C) n.58-1G>C c.241-1G>C (n.241-1G>C) c.94-1G>C (n.94-1G>C) c.61-1G>C (n.61-1G>C) c.313-1G>C (n.313-1G>C) | ClinVar dbSNP |
6 | g.73641925C>T | CA364718393 | SLC17A5 | c.292-1G>A (n.292-1G>A) n.58-1G>A c.241-1G>A (n.241-1G>A) c.94-1G>A (n.94-1G>A) c.61-1G>A (n.61-1G>A) c.313-1G>A (n.313-1G>A) | |
6 | g.73641926T>A | CA364718394 | SLC17A5 | c.292-2A>T (n.292-2A>T) n.58-2A>T c.241-2A>T (n.241-2A>T) c.94-2A>T (n.94-2A>T) c.61-2A>T (n.61-2A>T) c.313-2A>T (n.313-2A>T) | |
6 | g.73641926T>C | CA364718395 | SLC17A5 | c.292-2A>G (n.292-2A>G) n.58-2A>G c.241-2A>G (n.241-2A>G) c.94-2A>G (n.94-2A>G) c.61-2A>G (n.61-2A>G) c.313-2A>G (n.313-2A>G) | |
6 | g.73641926T>G | CA16041087 | SLC17A5 | c.292-2A>C (n.292-2A>C) n.58-2A>C c.241-2A>C (n.241-2A>C) c.94-2A>C (n.94-2A>C) c.61-2A>C (n.61-2A>C) c.313-2A>C (n.313-2A>C) | ClinVar dbSNP gnomAD v4 |
6 | g.73641926T= | CA1638223288 | SLC17A5 | c.292-2A= (n.292-2A=) n.58-2A= c.241-2A= (n.241-2A=) c.94-2A= (n.94-2A=) c.61-2A= (n.61-2A=) c.313-2A= (n.313-2A=) | |
6 | g.73641928C= | CA1638223294 | SLC17A5 | c.292-4G= (n.292-4G=) n.58-4G= c.241-4G= (n.241-4G=) c.94-4G= (n.94-4G=) c.61-4G= (n.61-4G=) c.313-4G= (n.313-4G=) | |
6 | g.73641928C>G | CA140975792 | SLC17A5 | c.292-4G>C (n.292-4G>C) n.58-4G>C c.241-4G>C (n.241-4G>C) c.94-4G>C (n.94-4G>C) c.61-4G>C (n.61-4G>C) c.313-4G>C (n.313-4G>C) | ClinVar dbSNP gnomAD v4 |
6 | g.73641928C>T | CA568118747 | SLC17A5 | c.292-4G>A (n.292-4G>A) n.58-4G>A c.241-4G>A (n.241-4G>A) c.94-4G>A (n.94-4G>A) c.61-4G>A (n.61-4G>A) c.313-4G>A (n.313-4G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641930A>C | CA2679404900 | SLC17A5 | c.292-6T>G (n.292-6T>G) n.58-6T>G c.241-6T>G (n.241-6T>G) c.94-6T>G (n.94-6T>G) c.61-6T>G (n.61-6T>G) c.313-6T>G (n.313-6T>G) | gnomAD v4 |
6 | g.73641933A= | CA1638223298 | SLC17A5 | c.292-9T= (n.292-9T=) n.58-9T= c.241-9T= (n.241-9T=) c.94-9T= (n.94-9T=) c.61-9T= (n.61-9T=) c.313-9T= (n.313-9T=) | |
6 | g.73641933A>G | CA567687057 | SLC17A5 | c.292-9T>C (n.292-9T>C) n.58-9T>C c.241-9T>C (n.241-9T>C) c.94-9T>C (n.94-9T>C) c.61-9T>C (n.61-9T>C) c.313-9T>C (n.313-9T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641934T>C | CA3890559 | SLC17A5 | c.292-10A>G (n.292-10A>G) n.58-10A>G c.241-10A>G (n.241-10A>G) c.94-10A>G (n.94-10A>G) c.61-10A>G (n.61-10A>G) c.313-10A>G (n.313-10A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641934T= | CA1638223299 | SLC17A5 | c.292-10A= (n.292-10A=) n.58-10A= c.241-10A= (n.241-10A=) c.94-10A= (n.94-10A=) c.61-10A= (n.61-10A=) c.313-10A= (n.313-10A=) |