Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.73641745T>A | CA450912109 | SLC17A5 | c.471A>T (p.Ala157=) n.237A>T c.420A>T (p.Ala140=) c.273A>T (p.Ala91=) c.240A>T (p.Ala80=) c.492A>T (p.Ala164=) | |
6 | g.73641745T>C | CA450912110 | SLC17A5 | c.471A>G (p.Ala157=) n.237A>G c.420A>G (p.Ala140=) c.273A>G (p.Ala91=) c.240A>G (p.Ala80=) c.492A>G (p.Ala164=) | |
6 | g.73641745T>G | CA450912111 | SLC17A5 | c.471A>C (p.Ala157=) n.237A>C c.420A>C (p.Ala140=) c.273A>C (p.Ala91=) c.240A>C (p.Ala80=) c.492A>C (p.Ala164=) | |
6 | g.73641746G>A | CA364718009 | SLC17A5 | c.470C>T (p.Ala157Val) n.236C>T c.419C>T (p.Ala140Val) c.272C>T (p.Ala91Val) c.239C>T (p.Ala80Val) c.491C>T (p.Ala164Val) | gnomAD v4 |
6 | g.73641746G>C | CA364718010 | SLC17A5 | c.470C>G (p.Ala157Gly) n.236C>G c.419C>G (p.Ala140Gly) c.272C>G (p.Ala91Gly) c.239C>G (p.Ala80Gly) c.491C>G (p.Ala164Gly) | |
6 | g.73641746G>T | CA364718011 | SLC17A5 | c.470C>A (p.Ala157Glu) n.236C>A c.419C>A (p.Ala140Glu) c.272C>A (p.Ala91Glu) c.239C>A (p.Ala80Glu) c.491C>A (p.Ala164Glu) | |
6 | g.73641747C>A | CA364718012 | SLC17A5 | c.469G>T (p.Ala157Ser) n.235G>T c.418G>T (p.Ala140Ser) c.271G>T (p.Ala91Ser) c.238G>T (p.Ala80Ser) c.490G>T (p.Ala164Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641747C= | CA1638222997 | SLC17A5 | c.469G= (p.Ala157=) n.235G= c.418G= (p.Ala140=) c.271G= (p.Ala91=) c.238G= (p.Ala80=) c.490G= (p.Ala164=) | |
6 | g.73641747C>G | CA364718013 | SLC17A5 | c.469G>C (p.Ala157Pro) n.235G>C c.418G>C (p.Ala140Pro) c.271G>C (p.Ala91Pro) c.238G>C (p.Ala80Pro) c.490G>C (p.Ala164Pro) | |
6 | g.73641747C>T | CA364718014 | SLC17A5 | c.469G>A (p.Ala157Thr) n.235G>A c.418G>A (p.Ala140Thr) c.271G>A (p.Ala91Thr) c.238G>A (p.Ala80Thr) c.490G>A (p.Ala164Thr) | dbSNP |
6 | g.73641748A= | CA1638223000 | SLC17A5 | c.468T= (p.Ala156=) n.234T= c.417T= (p.Ala139=) c.270T= (p.Ala90=) c.237T= (p.Ala79=) c.489T= (p.Ala163=) | |
6 | g.73641748A>C | CA450912114 | SLC17A5 | c.468T>G (p.Ala156=) n.234T>G c.417T>G (p.Ala139=) c.270T>G (p.Ala90=) c.237T>G (p.Ala79=) c.489T>G (p.Ala163=) | |
6 | g.73641748A>G | CA3890530 | SLC17A5 | c.468T>C (p.Ala156=) n.234T>C c.417T>C (p.Ala139=) c.270T>C (p.Ala90=) c.237T>C (p.Ala79=) c.489T>C (p.Ala163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641748A>T | CA450912116 | SLC17A5 | c.468T>A (p.Ala156=) n.234T>A c.417T>A (p.Ala139=) c.270T>A (p.Ala90=) c.237T>A (p.Ala79=) c.489T>A (p.Ala163=) | |
6 | g.73641749G>A | CA364718016 | SLC17A5 | c.467C>T (p.Ala156Val) n.233C>T c.416C>T (p.Ala139Val) c.269C>T (p.Ala90Val) c.236C>T (p.Ala79Val) c.488C>T (p.Ala163Val) | |
6 | g.73641749G>C | CA364718017 | SLC17A5 | c.467C>G (p.Ala156Gly) n.233C>G c.416C>G (p.Ala139Gly) c.269C>G (p.Ala90Gly) c.236C>G (p.Ala79Gly) c.488C>G (p.Ala163Gly) | |
6 | g.73641749G>T | CA364718015 | SLC17A5 | c.467C>A (p.Ala156Asp) n.233C>A c.416C>A (p.Ala139Asp) c.269C>A (p.Ala90Asp) c.236C>A (p.Ala79Asp) c.488C>A (p.Ala163Asp) | |
6 | g.73641750C>A | CA364718018 | SLC17A5 | c.466G>T (p.Ala156Ser) n.232G>T c.415G>T (p.Ala139Ser) c.268G>T (p.Ala90Ser) c.235G>T (p.Ala79Ser) c.487G>T (p.Ala163Ser) | |
6 | g.73641750C>G | CA364718019 | SLC17A5 | c.466G>C (p.Ala156Pro) n.232G>C c.415G>C (p.Ala139Pro) c.268G>C (p.Ala90Pro) c.235G>C (p.Ala79Pro) c.487G>C (p.Ala163Pro) | |
6 | g.73641750C>T | CA364718020 | SLC17A5 | c.466G>A (p.Ala156Thr) n.232G>A c.415G>A (p.Ala139Thr) c.268G>A (p.Ala90Thr) c.235G>A (p.Ala79Thr) c.487G>A (p.Ala163Thr) | |
6 | g.73641751A>C | CA364718021 | SLC17A5 | c.465T>G (p.Ile155Met) n.231T>G c.414T>G (p.Ile138Met) c.267T>G (p.Ile89Met) c.234T>G (p.Ile78Met) c.486T>G (p.Ile162Met) | |
6 | g.73641751A>G | CA450912117 | SLC17A5 | c.465T>C (p.Ile155=) n.231T>C c.414T>C (p.Ile138=) c.267T>C (p.Ile89=) c.234T>C (p.Ile78=) c.486T>C (p.Ile162=) | |
6 | g.73641751A>T | CA450912118 | SLC17A5 | c.465T>A (p.Ile155=) n.231T>A c.414T>A (p.Ile138=) c.267T>A (p.Ile89=) c.234T>A (p.Ile78=) c.486T>A (p.Ile162=) | |
6 | g.73641752A>C | CA364718024 | SLC17A5 | c.464T>G (p.Ile155Ser) n.230T>G c.413T>G (p.Ile138Ser) c.266T>G (p.Ile89Ser) c.233T>G (p.Ile78Ser) c.485T>G (p.Ile162Ser) | |
6 | g.73641752A>G | CA364718023 | SLC17A5 | c.464T>C (p.Ile155Thr) n.230T>C c.413T>C (p.Ile138Thr) c.266T>C (p.Ile89Thr) c.233T>C (p.Ile78Thr) c.485T>C (p.Ile162Thr) | |
6 | g.73641752A>T | CA364718022 | SLC17A5 | c.464T>A (p.Ile155Asn) n.230T>A c.413T>A (p.Ile138Asn) c.266T>A (p.Ile89Asn) c.233T>A (p.Ile78Asn) c.485T>A (p.Ile162Asn) | |
6 | g.73641753T>A | CA364718025 | SLC17A5 | c.463A>T (p.Ile155Phe) n.229A>T c.412A>T (p.Ile138Phe) c.265A>T (p.Ile89Phe) c.232A>T (p.Ile78Phe) c.484A>T (p.Ile162Phe) | |
6 | g.73641753T>C | CA364718026 | SLC17A5 | c.463A>G (p.Ile155Val) n.229A>G c.412A>G (p.Ile138Val) c.265A>G (p.Ile89Val) c.232A>G (p.Ile78Val) c.484A>G (p.Ile162Val) | |
6 | g.73641753T>G | CA364718027 | SLC17A5 | c.463A>C (p.Ile155Leu) n.229A>C c.412A>C (p.Ile138Leu) c.265A>C (p.Ile89Leu) c.232A>C (p.Ile78Leu) c.484A>C (p.Ile162Leu) | |
6 | g.73641754G>A | CA450912119 | SLC17A5 | c.462C>T (p.Pro154=) n.228C>T c.411C>T (p.Pro137=) c.264C>T (p.Pro88=) c.231C>T (p.Pro77=) c.483C>T (p.Pro161=) | gnomAD v4 |
6 | g.73641754G>C | CA450912120 | SLC17A5 | c.462C>G (p.Pro154=) n.228C>G c.411C>G (p.Pro137=) c.264C>G (p.Pro88=) c.231C>G (p.Pro77=) c.483C>G (p.Pro161=) | |
6 | g.73641754G>T | CA450912121 | SLC17A5 | c.462C>A (p.Pro154=) n.228C>A c.411C>A (p.Pro137=) c.264C>A (p.Pro88=) c.231C>A (p.Pro77=) c.483C>A (p.Pro161=) | |
6 | g.73641755G>A | CA364718028 | SLC17A5 | c.461C>T (p.Pro154Leu) n.227C>T c.410C>T (p.Pro137Leu) c.263C>T (p.Pro88Leu) c.230C>T (p.Pro77Leu) c.482C>T (p.Pro161Leu) | |
6 | g.73641755G>C | CA364718029 | SLC17A5 | c.461C>G (p.Pro154Arg) n.227C>G c.410C>G (p.Pro137Arg) c.263C>G (p.Pro88Arg) c.230C>G (p.Pro77Arg) c.482C>G (p.Pro161Arg) | |
6 | g.73641755G>T | CA364718030 | SLC17A5 | c.461C>A (p.Pro154His) n.227C>A c.410C>A (p.Pro137His) c.263C>A (p.Pro88His) c.230C>A (p.Pro77His) c.482C>A (p.Pro161His) | |
6 | g.73641756G>A | CA364718031 | SLC17A5 | c.460C>T (p.Pro154Ser) n.226C>T c.409C>T (p.Pro137Ser) c.262C>T (p.Pro88Ser) c.229C>T (p.Pro77Ser) c.481C>T (p.Pro161Ser) | |
6 | g.73641756G>C | CA364718033 | SLC17A5 | c.460C>G (p.Pro154Ala) n.226C>G c.409C>G (p.Pro137Ala) c.262C>G (p.Pro88Ala) c.229C>G (p.Pro77Ala) c.481C>G (p.Pro161Ala) | |
6 | g.73641756G>T | CA364718032 | SLC17A5 | c.460C>A (p.Pro154Thr) n.226C>A c.409C>A (p.Pro137Thr) c.262C>A (p.Pro88Thr) c.229C>A (p.Pro77Thr) c.481C>A (p.Pro161Thr) | |
6 | g.73641756_73641758delinsACACTTAGAT | CA2580075794 | SLC17A5 | c.458_460delinsATCTAAGTGT (p.Thr153AsnfsTer?) n.224_226delinsATCTAAGTGT c.407_409delinsATCTAAGTGT (p.Thr136AsnfsTer?) c.260_262delinsATCTAAGTGT (p.Thr87AsnfsTer?) c.227_229delinsATCTAAGTGT (p.Thr76AsnfsTer?) c.479_481delinsATCTAAGTGT (p.Thr160AsnfsTer?) | ClinVar |
6 | g.73641757A= | CA1638223004 | SLC17A5 | c.459T= (p.Thr153=) n.225T= c.408T= (p.Thr136=) c.261T= (p.Thr87=) c.228T= (p.Thr76=) c.480T= (p.Thr160=) | |
6 | g.73641757A>C | CA450912122 | SLC17A5 | c.459T>G (p.Thr153=) n.225T>G c.408T>G (p.Thr136=) c.261T>G (p.Thr87=) c.228T>G (p.Thr76=) c.480T>G (p.Thr160=) | |
6 | g.73641757A>G | CA450912123 | SLC17A5 | c.459T>C (p.Thr153=) n.225T>C c.408T>C (p.Thr136=) c.261T>C (p.Thr87=) c.228T>C (p.Thr76=) c.480T>C (p.Thr160=) | dbSNP gnomAD v4 |
6 | g.73641757A>T | CA450912124 | SLC17A5 | c.459T>A (p.Thr153=) n.225T>A c.408T>A (p.Thr136=) c.261T>A (p.Thr87=) c.228T>A (p.Thr76=) c.480T>A (p.Thr160=) | |
6 | g.73641758G>A | CA364718034 | SLC17A5 | c.458C>T (p.Thr153Ile) n.224C>T c.407C>T (p.Thr136Ile) c.260C>T (p.Thr87Ile) c.227C>T (p.Thr76Ile) c.479C>T (p.Thr160Ile) | |
6 | g.73641758G>C | CA364718036 | SLC17A5 | c.458C>G (p.Thr153Ser) n.224C>G c.407C>G (p.Thr136Ser) c.260C>G (p.Thr87Ser) c.227C>G (p.Thr76Ser) c.479C>G (p.Thr160Ser) | gnomAD v4 |
6 | g.73641758G= | CA1638223007 | SLC17A5 | c.458C= (p.Thr153=) n.224C= c.407C= (p.Thr136=) c.260C= (p.Thr87=) c.227C= (p.Thr76=) c.479C= (p.Thr160=) | |
6 | g.73641758G>T | CA364718035 | SLC17A5 | c.458C>A (p.Thr153Asn) n.224C>A c.407C>A (p.Thr136Asn) c.260C>A (p.Thr87Asn) c.227C>A (p.Thr76Asn) c.479C>A (p.Thr160Asn) | dbSNP gnomAD v4 |
6 | g.73641759T>A | CA364718037 | SLC17A5 | c.457A>T (p.Thr153Ser) n.223A>T c.406A>T (p.Thr136Ser) c.259A>T (p.Thr87Ser) c.226A>T (p.Thr76Ser) c.478A>T (p.Thr160Ser) | |
6 | g.73641759T>C | CA364718038 | SLC17A5 | c.457A>G (p.Thr153Ala) n.223A>G c.406A>G (p.Thr136Ala) c.259A>G (p.Thr87Ala) c.226A>G (p.Thr76Ala) c.478A>G (p.Thr160Ala) | |
6 | g.73641759T>G | CA364718039 | SLC17A5 | c.457A>C (p.Thr153Pro) n.223A>C c.406A>C (p.Thr136Pro) c.259A>C (p.Thr87Pro) c.226A>C (p.Thr76Pro) c.478A>C (p.Thr160Pro) | |
6 | g.73641760G>A | CA450912125 | SLC17A5 | c.456C>T (p.Phe152=) n.222C>T c.405C>T (p.Phe135=) c.258C>T (p.Phe86=) c.225C>T (p.Phe75=) c.477C>T (p.Phe159=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641760G>C | CA364718040 | SLC17A5 | c.456C>G (p.Phe152Leu) n.222C>G c.405C>G (p.Phe135Leu) c.258C>G (p.Phe86Leu) c.225C>G (p.Phe75Leu) c.477C>G (p.Phe159Leu) | gnomAD v4 |
6 | g.73641760G= | CA1638223010 | SLC17A5 | c.456C= (p.Phe152=) n.222C= c.405C= (p.Phe135=) c.258C= (p.Phe86=) c.225C= (p.Phe75=) c.477C= (p.Phe159=) | |
6 | g.73641760G>T | CA364718041 | SLC17A5 | c.456C>A (p.Phe152Leu) n.222C>A c.405C>A (p.Phe135Leu) c.258C>A (p.Phe86Leu) c.225C>A (p.Phe75Leu) c.477C>A (p.Phe159Leu) | |
6 | g.73641761A>C | CA364718042 | SLC17A5 | c.455T>G (p.Phe152Cys) n.221T>G c.404T>G (p.Phe135Cys) c.257T>G (p.Phe86Cys) c.224T>G (p.Phe75Cys) c.476T>G (p.Phe159Cys) | |
6 | g.73641761A>G | CA364718043 | SLC17A5 | c.455T>C (p.Phe152Ser) n.221T>C c.404T>C (p.Phe135Ser) c.257T>C (p.Phe86Ser) c.224T>C (p.Phe75Ser) c.476T>C (p.Phe159Ser) | gnomAD v4 |
6 | g.73641761A>T | CA364718044 | SLC17A5 | c.455T>A (p.Phe152Tyr) n.221T>A c.404T>A (p.Phe135Tyr) c.257T>A (p.Phe86Tyr) c.224T>A (p.Phe75Tyr) c.476T>A (p.Phe159Tyr) | |
6 | g.73641762A>C | CA364718045 | SLC17A5 | c.454T>G (p.Phe152Val) n.220T>G c.403T>G (p.Phe135Val) c.256T>G (p.Phe86Val) c.223T>G (p.Phe75Val) c.475T>G (p.Phe159Val) | |
6 | g.73641762A>G | CA364718046 | SLC17A5 | c.454T>C (p.Phe152Leu) n.220T>C c.403T>C (p.Phe135Leu) c.256T>C (p.Phe86Leu) c.223T>C (p.Phe75Leu) c.475T>C (p.Phe159Leu) | |
6 | g.73641762A>T | CA364718047 | SLC17A5 | c.454T>A (p.Phe152Ile) n.220T>A c.403T>A (p.Phe135Ile) c.256T>A (p.Phe86Ile) c.223T>A (p.Phe75Ile) c.475T>A (p.Phe159Ile) | |
6 | g.73641763C>A | CA450912127 | SLC17A5 | c.453G>T (p.Leu151=) n.219G>T c.402G>T (p.Leu134=) c.255G>T (p.Leu85=) c.222G>T (p.Leu74=) c.474G>T (p.Leu158=) | |
6 | g.73641763C= | CA1638223012 | SLC17A5 | c.453G= (p.Leu151=) n.219G= c.402G= (p.Leu134=) c.255G= (p.Leu85=) c.222G= (p.Leu74=) c.474G= (p.Leu158=) | |
6 | g.73641763C>G | CA450912126 | SLC17A5 | c.453G>C (p.Leu151=) n.219G>C c.402G>C (p.Leu134=) c.255G>C (p.Leu85=) c.222G>C (p.Leu74=) c.474G>C (p.Leu158=) | |
6 | g.73641763C>T | CA3890531 | SLC17A5 | c.453G>A (p.Leu151=) n.219G>A c.402G>A (p.Leu134=) c.255G>A (p.Leu85=) c.222G>A (p.Leu74=) c.474G>A (p.Leu158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641764A>C | CA364718050 | SLC17A5 | c.452T>G (p.Leu151Arg) n.218T>G c.401T>G (p.Leu134Arg) c.254T>G (p.Leu85Arg) c.221T>G (p.Leu74Arg) c.473T>G (p.Leu158Arg) | |
6 | g.73641764A>G | CA364718048 | SLC17A5 | c.452T>C (p.Leu151Pro) n.218T>C c.401T>C (p.Leu134Pro) c.254T>C (p.Leu85Pro) c.221T>C (p.Leu74Pro) c.473T>C (p.Leu158Pro) | |
6 | g.73641764A>T | CA364718049 | SLC17A5 | c.452T>A (p.Leu151Gln) n.218T>A c.401T>A (p.Leu134Gln) c.254T>A (p.Leu85Gln) c.221T>A (p.Leu74Gln) c.473T>A (p.Leu158Gln) | |
6 | g.73641765G>A | CA450912128 | SLC17A5 | c.451C>T (p.Leu151=) n.217C>T c.400C>T (p.Leu134=) c.253C>T (p.Leu85=) c.220C>T (p.Leu74=) c.472C>T (p.Leu158=) | |
6 | g.73641765G>C | CA364718051 | SLC17A5 | c.451C>G (p.Leu151Val) n.217C>G c.400C>G (p.Leu134Val) c.253C>G (p.Leu85Val) c.220C>G (p.Leu74Val) c.472C>G (p.Leu158Val) | |
6 | g.73641765G>T | CA364718052 | SLC17A5 | c.451C>A (p.Leu151Met) n.217C>A c.400C>A (p.Leu134Met) c.253C>A (p.Leu85Met) c.220C>A (p.Leu74Met) c.472C>A (p.Leu158Met) | |
6 | g.73641766G>A | CA450912129 | SLC17A5 | c.450C>T (p.Thr150=) n.216C>T c.399C>T (p.Thr133=) c.252C>T (p.Thr84=) c.219C>T (p.Thr73=) c.471C>T (p.Thr157=) | |
6 | g.73641766G>C | CA450912130 | SLC17A5 | c.450C>G (p.Thr150=) n.216C>G c.399C>G (p.Thr133=) c.252C>G (p.Thr84=) c.219C>G (p.Thr73=) c.471C>G (p.Thr157=) | |
6 | g.73641766G>T | CA450912131 | SLC17A5 | c.450C>A (p.Thr150=) n.216C>A c.399C>A (p.Thr133=) c.252C>A (p.Thr84=) c.219C>A (p.Thr73=) c.471C>A (p.Thr157=) | |
6 | g.73641767G>A | CA364718053 | SLC17A5 | c.449C>T (p.Thr150Ile) n.215C>T c.398C>T (p.Thr133Ile) c.251C>T (p.Thr84Ile) c.218C>T (p.Thr73Ile) c.470C>T (p.Thr157Ile) | gnomAD v4 |
6 | g.73641767G>C | CA364718054 | SLC17A5 | c.449C>G (p.Thr150Ser) n.215C>G c.398C>G (p.Thr133Ser) c.251C>G (p.Thr84Ser) c.218C>G (p.Thr73Ser) c.470C>G (p.Thr157Ser) | |
6 | g.73641767G>T | CA364718055 | SLC17A5 | c.449C>A (p.Thr150Asn) n.215C>A c.398C>A (p.Thr133Asn) c.251C>A (p.Thr84Asn) c.218C>A (p.Thr73Asn) c.470C>A (p.Thr157Asn) | |
6 | g.73641768T>A | CA364718056 | SLC17A5 | c.448A>T (p.Thr150Ser) n.214A>T c.397A>T (p.Thr133Ser) c.250A>T (p.Thr84Ser) c.217A>T (p.Thr73Ser) c.469A>T (p.Thr157Ser) | |
6 | g.73641768T>C | CA364718057 | SLC17A5 | c.448A>G (p.Thr150Ala) n.214A>G c.397A>G (p.Thr133Ala) c.250A>G (p.Thr84Ala) c.217A>G (p.Thr73Ala) c.469A>G (p.Thr157Ala) | |
6 | g.73641768T>G | CA364718058 | SLC17A5 | c.448A>C (p.Thr150Pro) n.214A>C c.397A>C (p.Thr133Pro) c.250A>C (p.Thr84Pro) c.217A>C (p.Thr73Pro) c.469A>C (p.Thr157Pro) | |
6 | g.73641769G>A | CA450912132 | SLC17A5 | c.447C>T (p.Leu149=) n.213C>T c.396C>T (p.Leu132=) c.249C>T (p.Leu83=) c.216C>T (p.Leu72=) c.468C>T (p.Leu156=) | ClinVar gnomAD v4 |
6 | g.73641769G>C | CA450912134 | SLC17A5 | c.447C>G (p.Leu149=) n.213C>G c.396C>G (p.Leu132=) c.249C>G (p.Leu83=) c.216C>G (p.Leu72=) c.468C>G (p.Leu156=) | |
6 | g.73641769G>T | CA450912133 | SLC17A5 | c.447C>A (p.Leu149=) n.213C>A c.396C>A (p.Leu132=) c.249C>A (p.Leu83=) c.216C>A (p.Leu72=) c.468C>A (p.Leu156=) | |
6 | g.73641770A>C | CA364718059 | SLC17A5 | c.446T>G (p.Leu149Arg) n.212T>G c.395T>G (p.Leu132Arg) c.248T>G (p.Leu83Arg) c.215T>G (p.Leu72Arg) c.467T>G (p.Leu156Arg) | |
6 | g.73641770A>G | CA364718060 | SLC17A5 | c.446T>C (p.Leu149Pro) n.212T>C c.395T>C (p.Leu132Pro) c.248T>C (p.Leu83Pro) c.215T>C (p.Leu72Pro) c.467T>C (p.Leu156Pro) | |
6 | g.73641770A>T | CA364718061 | SLC17A5 | c.446T>A (p.Leu149His) n.212T>A c.395T>A (p.Leu132His) c.248T>A (p.Leu83His) c.215T>A (p.Leu72His) c.467T>A (p.Leu156His) | |
6 | g.73641771G>A | CA364718064 | SLC17A5 | c.445C>T (p.Leu149Phe) n.211C>T c.394C>T (p.Leu132Phe) c.247C>T (p.Leu83Phe) c.214C>T (p.Leu72Phe) c.466C>T (p.Leu156Phe) | |
6 | g.73641771G>C | CA364718063 | SLC17A5 | c.445C>G (p.Leu149Val) n.211C>G c.394C>G (p.Leu132Val) c.247C>G (p.Leu83Val) c.214C>G (p.Leu72Val) c.466C>G (p.Leu156Val) | |
6 | g.73641771G>T | CA364718062 | SLC17A5 | c.445C>A (p.Leu149Ile) n.211C>A c.394C>A (p.Leu132Ile) c.247C>A (p.Leu83Ile) c.214C>A (p.Leu72Ile) c.466C>A (p.Leu156Ile) | |
6 | g.73641772G>A | CA450912135 | SLC17A5 | c.444C>T (p.Val148=) n.210C>T c.393C>T (p.Val131=) c.246C>T (p.Val82=) c.213C>T (p.Val71=) c.465C>T (p.Val155=) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.73641772G>C | CA3890532 | SLC17A5 | c.444C>G (p.Val148=) n.210C>G c.393C>G (p.Val131=) c.246C>G (p.Val82=) c.213C>G (p.Val71=) c.465C>G (p.Val155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641772G= | CA1638223017 | SLC17A5 | c.444C= (p.Val148=) n.210C= c.393C= (p.Val131=) c.246C= (p.Val82=) c.213C= (p.Val71=) c.465C= (p.Val155=) | |
6 | g.73641772G>T | CA450912136 | SLC17A5 | c.444C>A (p.Val148=) n.210C>A c.393C>A (p.Val131=) c.246C>A (p.Val82=) c.213C>A (p.Val71=) c.465C>A (p.Val155=) | |
6 | g.73641773A= | CA1638223023 | SLC17A5 | c.443T= (p.Val148=) n.209T= c.392T= (p.Val131=) c.245T= (p.Val82=) c.212T= (p.Val71=) c.464T= (p.Val155=) | |
6 | g.73641773A>C | CA364718065 | SLC17A5 | c.443T>G (p.Val148Gly) n.209T>G c.392T>G (p.Val131Gly) c.245T>G (p.Val82Gly) c.212T>G (p.Val71Gly) c.464T>G (p.Val155Gly) | |
6 | g.73641773A>G | CA364718066 | SLC17A5 | c.443T>C (p.Val148Ala) n.209T>C c.392T>C (p.Val131Ala) c.245T>C (p.Val82Ala) c.212T>C (p.Val71Ala) c.464T>C (p.Val155Ala) | |
6 | g.73641773A>T | CA364718067 | SLC17A5 | c.443T>A (p.Val148Asp) n.209T>A c.392T>A (p.Val131Asp) c.245T>A (p.Val82Asp) c.212T>A (p.Val71Asp) c.464T>A (p.Val155Asp) | dbSNP |
6 | g.73641774C>A | CA364718068 | SLC17A5 | c.442G>T (p.Val148Phe) n.208G>T c.391G>T (p.Val131Phe) c.244G>T (p.Val82Phe) c.211G>T (p.Val71Phe) c.463G>T (p.Val155Phe) | |
6 | g.73641774C= | CA1638223027 | SLC17A5 | c.442G= (p.Val148=) n.208G= c.391G= (p.Val131=) c.244G= (p.Val82=) c.211G= (p.Val71=) c.463G= (p.Val155=) | |
6 | g.73641774C>G | CA364718069 | SLC17A5 | c.442G>C (p.Val148Leu) n.208G>C c.391G>C (p.Val131Leu) c.244G>C (p.Val82Leu) c.211G>C (p.Val71Leu) c.463G>C (p.Val155Leu) | gnomAD v4 |
6 | g.73641774C>T | CA3890533 | SLC17A5 | c.442G>A (p.Val148Ile) n.208G>A c.391G>A (p.Val131Ile) c.244G>A (p.Val82Ile) c.211G>A (p.Val71Ile) c.463G>A (p.Val155Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641775A>C | CA450912137 | SLC17A5 | c.441T>G (p.Ala147=) n.207T>G c.390T>G (p.Ala130=) c.243T>G (p.Ala81=) c.210T>G (p.Ala70=) c.462T>G (p.Ala154=) | |
6 | g.73641775A>G | CA450912138 | SLC17A5 | c.441T>C (p.Ala147=) n.207T>C c.390T>C (p.Ala130=) c.243T>C (p.Ala81=) c.210T>C (p.Ala70=) c.462T>C (p.Ala154=) | ClinVar dbSNP gnomAD v4 |
6 | g.73641775A>T | CA450912139 | SLC17A5 | c.441T>A (p.Ala147=) n.207T>A c.390T>A (p.Ala130=) c.243T>A (p.Ala81=) c.210T>A (p.Ala70=) c.462T>A (p.Ala154=) | ClinVar |
6 | g.73641776G>A | CA140975647 | SLC17A5 | c.440C>T (p.Ala147Val) n.206C>T c.389C>T (p.Ala130Val) c.242C>T (p.Ala81Val) c.209C>T (p.Ala70Val) c.461C>T (p.Ala154Val) | dbSNP COSMIC |
6 | g.73641776G>C | CA364718070 | SLC17A5 | c.440C>G (p.Ala147Gly) n.206C>G c.389C>G (p.Ala130Gly) c.242C>G (p.Ala81Gly) c.209C>G (p.Ala70Gly) c.461C>G (p.Ala154Gly) | |
6 | g.73641776G= | CA1638223031 | SLC17A5 | c.440C= (p.Ala147=) n.206C= c.389C= (p.Ala130=) c.242C= (p.Ala81=) c.209C= (p.Ala70=) c.461C= (p.Ala154=) | |
6 | g.73641776G>T | CA364718071 | SLC17A5 | c.440C>A (p.Ala147Asp) n.206C>A c.389C>A (p.Ala130Asp) c.242C>A (p.Ala81Asp) c.209C>A (p.Ala70Asp) c.461C>A (p.Ala154Asp) | |
6 | g.73641777C>A | CA364718072 | SLC17A5 | c.439G>T (p.Ala147Ser) n.205G>T c.388G>T (p.Ala130Ser) c.241G>T (p.Ala81Ser) c.208G>T (p.Ala70Ser) c.460G>T (p.Ala154Ser) | |
6 | g.73641777C>G | CA364718073 | SLC17A5 | c.439G>C (p.Ala147Pro) n.205G>C c.388G>C (p.Ala130Pro) c.241G>C (p.Ala81Pro) c.208G>C (p.Ala70Pro) c.460G>C (p.Ala154Pro) | |
6 | g.73641777C>T | CA364718074 | SLC17A5 | c.439G>A (p.Ala147Thr) n.205G>A c.388G>A (p.Ala130Thr) c.241G>A (p.Ala81Thr) c.208G>A (p.Ala70Thr) c.460G>A (p.Ala154Thr) | |
6 | g.73641778A>C | CA450912140 | SLC17A5 | c.438T>G (p.Thr146=) n.204T>G c.387T>G (p.Thr129=) c.240T>G (p.Thr80=) c.207T>G (p.Thr69=) c.459T>G (p.Thr153=) | |
6 | g.73641778A>G | CA450912141 | SLC17A5 | c.438T>C (p.Thr146=) n.204T>C c.387T>C (p.Thr129=) c.240T>C (p.Thr80=) c.207T>C (p.Thr69=) c.459T>C (p.Thr153=) | |
6 | g.73641778A>T | CA450912142 | SLC17A5 | c.438T>A (p.Thr146=) n.204T>A c.387T>A (p.Thr129=) c.240T>A (p.Thr80=) c.207T>A (p.Thr69=) c.459T>A (p.Thr153=) | |
6 | g.73641779G>A | CA364718077 | SLC17A5 | c.437C>T (p.Thr146Ile) n.203C>T c.386C>T (p.Thr129Ile) c.239C>T (p.Thr80Ile) c.206C>T (p.Thr69Ile) c.458C>T (p.Thr153Ile) | |
6 | g.73641779G>C | CA364718075 | SLC17A5 | c.437C>G (p.Thr146Ser) n.203C>G c.386C>G (p.Thr129Ser) c.239C>G (p.Thr80Ser) c.206C>G (p.Thr69Ser) c.458C>G (p.Thr153Ser) | |
6 | g.73641779G>T | CA364718076 | SLC17A5 | c.437C>A (p.Thr146Asn) n.203C>A c.386C>A (p.Thr129Asn) c.239C>A (p.Thr80Asn) c.206C>A (p.Thr69Asn) c.458C>A (p.Thr153Asn) | |
6 | g.73641779_73641780insATTTAGGAGT | CA2580075796 | SLC17A5 | c.436_437insACTCCTAAAT (p.Thr146AsnfsTer3) n.202_203insACTCCTAAAT c.385_386insACTCCTAAAT (p.Thr129AsnfsTer3) c.238_239insACTCCTAAAT (p.Thr80AsnfsTer3) c.205_206insACTCCTAAAT (p.Thr69AsnfsTer3) c.457_458insACTCCTAAAT (p.Thr153AsnfsTer3) | ClinVar |
6 | g.73641780T>A | CA364718078 | SLC17A5 | c.436A>T (p.Thr146Ser) n.202A>T c.385A>T (p.Thr129Ser) c.238A>T (p.Thr80Ser) c.205A>T (p.Thr69Ser) c.457A>T (p.Thr153Ser) | |
6 | g.73641780T>C | CA364718079 | SLC17A5 | c.436A>G (p.Thr146Ala) n.202A>G c.385A>G (p.Thr129Ala) c.238A>G (p.Thr80Ala) c.205A>G (p.Thr69Ala) c.457A>G (p.Thr153Ala) | dbSNP |
6 | g.73641780T>G | CA364718080 | SLC17A5 | c.436A>C (p.Thr146Pro) n.202A>C c.385A>C (p.Thr129Pro) c.238A>C (p.Thr80Pro) c.205A>C (p.Thr69Pro) c.457A>C (p.Thr153Pro) | |
6 | g.73641780T= | CA1638223037 | SLC17A5 | c.436A= (p.Thr146=) n.202A= c.385A= (p.Thr129=) c.238A= (p.Thr80=) c.205A= (p.Thr69=) c.457A= (p.Thr153=) | |
6 | g.73641781G>A | CA450912143 | SLC17A5 | c.435C>T (p.Gly145=) n.201C>T c.384C>T (p.Gly128=) c.237C>T (p.Gly79=) c.204C>T (p.Gly68=) c.456C>T (p.Gly152=) | |
6 | g.73641781G>C | CA450912144 | SLC17A5 | c.435C>G (p.Gly145=) n.201C>G c.384C>G (p.Gly128=) c.237C>G (p.Gly79=) c.204C>G (p.Gly68=) c.456C>G (p.Gly152=) | |
6 | g.73641781G>T | CA450912145 | SLC17A5 | c.435C>A (p.Gly145=) n.201C>A c.384C>A (p.Gly128=) c.237C>A (p.Gly79=) c.204C>A (p.Gly68=) c.456C>A (p.Gly152=) | |
6 | g.73641782C>A | CA364718081 | SLC17A5 | c.434G>T (p.Gly145Val) n.200G>T c.383G>T (p.Gly128Val) c.236G>T (p.Gly79Val) c.203G>T (p.Gly68Val) c.455G>T (p.Gly152Val) | |
6 | g.73641782C>G | CA364718082 | SLC17A5 | c.434G>C (p.Gly145Ala) n.200G>C c.383G>C (p.Gly128Ala) c.236G>C (p.Gly79Ala) c.203G>C (p.Gly68Ala) c.455G>C (p.Gly152Ala) | |
6 | g.73641782C>T | CA364718083 | SLC17A5 | c.434G>A (p.Gly145Asp) n.200G>A c.383G>A (p.Gly128Asp) c.236G>A (p.Gly79Asp) c.203G>A (p.Gly68Asp) c.455G>A (p.Gly152Asp) | |
6 | g.73641783C>A | CA364718084 | SLC17A5 | c.433G>T (p.Gly145Cys) n.199G>T c.382G>T (p.Gly128Cys) c.235G>T (p.Gly79Cys) c.202G>T (p.Gly68Cys) c.454G>T (p.Gly152Cys) | |
6 | g.73641783C>G | CA364718085 | SLC17A5 | c.433G>C (p.Gly145Arg) n.199G>C c.382G>C (p.Gly128Arg) c.235G>C (p.Gly79Arg) c.202G>C (p.Gly68Arg) c.454G>C (p.Gly152Arg) | |
6 | g.73641783C>T | CA364718086 | SLC17A5 | c.433G>A (p.Gly145Ser) n.199G>A c.382G>A (p.Gly128Ser) c.235G>A (p.Gly79Ser) c.202G>A (p.Gly68Ser) c.454G>A (p.Gly152Ser) | |
6 | g.73641784A>C | CA450912146 | SLC17A5 | c.432T>G (p.Leu144=) n.198T>G c.381T>G (p.Leu127=) c.234T>G (p.Leu78=) c.201T>G (p.Leu67=) c.453T>G (p.Leu151=) | |
6 | g.73641784A>G | CA450912147 | SLC17A5 | c.432T>C (p.Leu144=) n.198T>C c.381T>C (p.Leu127=) c.234T>C (p.Leu78=) c.201T>C (p.Leu67=) c.453T>C (p.Leu151=) | |
6 | g.73641784A>T | CA450912148 | SLC17A5 | c.432T>A (p.Leu144=) n.198T>A c.381T>A (p.Leu127=) c.234T>A (p.Leu78=) c.201T>A (p.Leu67=) c.453T>A (p.Leu151=) | |
6 | g.73641785A>C | CA364718087 | SLC17A5 | c.431T>G (p.Leu144Arg) n.197T>G c.380T>G (p.Leu127Arg) c.233T>G (p.Leu78Arg) c.200T>G (p.Leu67Arg) c.452T>G (p.Leu151Arg) | |
6 | g.73641785A>G | CA364718088 | SLC17A5 | c.431T>C (p.Leu144Pro) n.197T>C c.380T>C (p.Leu127Pro) c.233T>C (p.Leu78Pro) c.200T>C (p.Leu67Pro) c.452T>C (p.Leu151Pro) | |
6 | g.73641785A>T | CA364718089 | SLC17A5 | c.431T>A (p.Leu144His) n.197T>A c.380T>A (p.Leu127His) c.233T>A (p.Leu78His) c.200T>A (p.Leu67His) c.452T>A (p.Leu151His) | |
6 | g.73641786G>A | CA364718091 | SLC17A5 | c.430C>T (p.Leu144Phe) n.196C>T c.379C>T (p.Leu127Phe) c.232C>T (p.Leu78Phe) c.199C>T (p.Leu67Phe) c.451C>T (p.Leu151Phe) | |
6 | g.73641786G>C | CA364718092 | SLC17A5 | c.430C>G (p.Leu144Val) n.196C>G c.379C>G (p.Leu127Val) c.232C>G (p.Leu78Val) c.199C>G (p.Leu67Val) c.451C>G (p.Leu151Val) | |
6 | g.73641786G>T | CA364718090 | SLC17A5 | c.430C>A (p.Leu144Ile) n.196C>A c.379C>A (p.Leu127Ile) c.232C>A (p.Leu78Ile) c.199C>A (p.Leu67Ile) c.451C>A (p.Leu151Ile) | |
6 | g.73641787G>A | CA450912149 | SLC17A5 | c.429C>T (p.Ile143=) n.195C>T c.378C>T (p.Ile126=) c.231C>T (p.Ile77=) c.198C>T (p.Ile66=) c.450C>T (p.Ile150=) | gnomAD v4 |
6 | g.73641787G>C | CA364718093 | SLC17A5 | c.429C>G (p.Ile143Met) n.195C>G c.378C>G (p.Ile126Met) c.231C>G (p.Ile77Met) c.198C>G (p.Ile66Met) c.450C>G (p.Ile150Met) | |
6 | g.73641787G>T | CA450912150 | SLC17A5 | c.429C>A (p.Ile143=) n.195C>A c.378C>A (p.Ile126=) c.231C>A (p.Ile77=) c.198C>A (p.Ile66=) c.450C>A (p.Ile150=) | |
6 | g.73641788A>C | CA364718094 | SLC17A5 | c.428T>G (p.Ile143Ser) n.194T>G c.377T>G (p.Ile126Ser) c.230T>G (p.Ile77Ser) c.197T>G (p.Ile66Ser) c.449T>G (p.Ile150Ser) | |
6 | g.73641788A>G | CA364718095 | SLC17A5 | c.428T>C (p.Ile143Thr) n.194T>C c.377T>C (p.Ile126Thr) c.230T>C (p.Ile77Thr) c.197T>C (p.Ile66Thr) c.449T>C (p.Ile150Thr) | gnomAD v4 |
6 | g.73641788A>T | CA364718096 | SLC17A5 | c.428T>A (p.Ile143Asn) n.194T>A c.377T>A (p.Ile126Asn) c.230T>A (p.Ile77Asn) c.197T>A (p.Ile66Asn) c.449T>A (p.Ile150Asn) | COSMIC |
6 | g.73641789T>A | CA364718097 | SLC17A5 | c.427A>T (p.Ile143Phe) n.193A>T c.376A>T (p.Ile126Phe) c.229A>T (p.Ile77Phe) c.196A>T (p.Ile66Phe) c.448A>T (p.Ile150Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641789T>C | CA364718098 | SLC17A5 | c.427A>G (p.Ile143Val) n.193A>G c.376A>G (p.Ile126Val) c.229A>G (p.Ile77Val) c.196A>G (p.Ile66Val) c.448A>G (p.Ile150Val) | gnomAD v4 |
6 | g.73641789T>G | CA364718099 | SLC17A5 | c.427A>C (p.Ile143Leu) n.193A>C c.376A>C (p.Ile126Leu) c.229A>C (p.Ile77Leu) c.196A>C (p.Ile66Leu) c.448A>C (p.Ile150Leu) | dbSNP |
6 | g.73641789T= | CA1638223039 | SLC17A5 | c.427A= (p.Ile143=) n.193A= c.376A= (p.Ile126=) c.229A= (p.Ile77=) c.196A= (p.Ile66=) c.448A= (p.Ile150=) | |
6 | g.73641790C>A | CA450912152 | SLC17A5 | c.426G>T (p.Gly142=) n.192G>T c.375G>T (p.Gly125=) c.228G>T (p.Gly76=) c.195G>T (p.Gly65=) c.447G>T (p.Gly149=) | gnomAD v4 |
6 | g.73641790C>G | CA450912153 | SLC17A5 | c.426G>C (p.Gly142=) n.192G>C c.375G>C (p.Gly125=) c.228G>C (p.Gly76=) c.195G>C (p.Gly65=) c.447G>C (p.Gly149=) | |
6 | g.73641790C>T | CA450912151 | SLC17A5 | c.426G>A (p.Gly142=) n.192G>A c.375G>A (p.Gly125=) c.228G>A (p.Gly76=) c.195G>A (p.Gly65=) c.447G>A (p.Gly149=) | |
6 | g.73641791C>A | CA364718102 | SLC17A5 | c.425G>T (p.Gly142Val) n.191G>T c.374G>T (p.Gly125Val) c.227G>T (p.Gly76Val) c.194G>T (p.Gly65Val) c.446G>T (p.Gly149Val) | gnomAD v4 |
6 | g.73641791C>G | CA364718101 | SLC17A5 | c.425G>C (p.Gly142Ala) n.191G>C c.374G>C (p.Gly125Ala) c.227G>C (p.Gly76Ala) c.194G>C (p.Gly65Ala) c.446G>C (p.Gly149Ala) | |
6 | g.73641791C>T | CA364718100 | SLC17A5 | c.425G>A (p.Gly142Glu) n.191G>A c.374G>A (p.Gly125Glu) c.227G>A (p.Gly76Glu) c.194G>A (p.Gly65Glu) c.446G>A (p.Gly149Glu) | |
6 | g.73641792C>A | CA364718103 | SLC17A5 | c.424G>T (p.Gly142Trp) n.190G>T c.373G>T (p.Gly125Trp) c.226G>T (p.Gly76Trp) c.193G>T (p.Gly65Trp) c.445G>T (p.Gly149Trp) | |
6 | g.73641792C>G | CA364718104 | SLC17A5 | c.424G>C (p.Gly142Arg) n.190G>C c.373G>C (p.Gly125Arg) c.226G>C (p.Gly76Arg) c.193G>C (p.Gly65Arg) c.445G>C (p.Gly149Arg) | gnomAD v4 |
6 | g.73641792C>T | CA364718105 | SLC17A5 | c.424G>A (p.Gly142Arg) n.190G>A c.373G>A (p.Gly125Arg) c.226G>A (p.Gly76Arg) c.193G>A (p.Gly65Arg) c.445G>A (p.Gly149Arg) | |
6 | g.73641792_73641793delinsCA | CA1638223042 | SLC17A5 | c.423_424delinsTG (p.Phe141=) n.189_190delinsTG c.372_373delinsTG (p.Phe124=) c.225_226delinsTG (p.Phe75=) c.192_193delinsTG (p.Phe64=) c.444_445delinsTG (p.Phe148=) | |
6 | g.73641793A>C | CA364718106 | SLC17A5 | c.423T>G (p.Phe141Leu) n.189T>G c.372T>G (p.Phe124Leu) c.225T>G (p.Phe75Leu) c.192T>G (p.Phe64Leu) c.444T>G (p.Phe148Leu) | |
6 | g.73641793A>G | CA450912154 | SLC17A5 | c.423T>C (p.Phe141=) n.189T>C c.372T>C (p.Phe124=) c.225T>C (p.Phe75=) c.192T>C (p.Phe64=) c.444T>C (p.Phe148=) | |
6 | g.73641793A>T | CA364718107 | SLC17A5 | c.423T>A (p.Phe141Leu) n.189T>A c.372T>A (p.Phe124Leu) c.225T>A (p.Phe75Leu) c.192T>A (p.Phe64Leu) c.444T>A (p.Phe148Leu) | |
6 | g.73641795del | CA16041084 | SLC17A5 | c.423del (p.Phe141LeufsTer19) n.189del c.372del (p.Phe124LeufsTer19) c.225del (p.Phe75LeufsTer19) c.192del (p.Phe64LeufsTer19) c.444del (p.Phe148LeufsTer19) | ClinVar dbSNP |
6 | g.73641794A>C | CA364718108 | SLC17A5 | c.422T>G (p.Phe141Cys) n.188T>G c.371T>G (p.Phe124Cys) c.224T>G (p.Phe75Cys) c.191T>G (p.Phe64Cys) c.443T>G (p.Phe148Cys) | |
6 | g.73641794A>G | CA364718110 | SLC17A5 | c.422T>C (p.Phe141Ser) n.188T>C c.371T>C (p.Phe124Ser) c.224T>C (p.Phe75Ser) c.191T>C (p.Phe64Ser) c.443T>C (p.Phe148Ser) | |
6 | g.73641794A>T | CA364718109 | SLC17A5 | c.422T>A (p.Phe141Tyr) n.188T>A c.371T>A (p.Phe124Tyr) c.224T>A (p.Phe75Tyr) c.191T>A (p.Phe64Tyr) c.443T>A (p.Phe148Tyr) | |
6 | g.73641795A= | CA1638223050 | SLC17A5 | c.421T= (p.Phe141=) n.187T= c.370T= (p.Phe124=) c.223T= (p.Phe75=) c.190T= (p.Phe64=) c.442T= (p.Phe148=) | |
6 | g.73641795A>C | CA364718111 | SLC17A5 | c.421T>G (p.Phe141Val) n.187T>G c.370T>G (p.Phe124Val) c.223T>G (p.Phe75Val) c.190T>G (p.Phe64Val) c.442T>G (p.Phe148Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73641795A>G | CA3890534 | SLC17A5 | c.421T>C (p.Phe141Leu) n.187T>C c.370T>C (p.Phe124Leu) c.223T>C (p.Phe75Leu) c.190T>C (p.Phe64Leu) c.442T>C (p.Phe148Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641795A>T | CA364718112 | SLC17A5 | c.421T>A (p.Phe141Ile) n.187T>A c.370T>A (p.Phe124Ile) c.223T>A (p.Phe75Ile) c.190T>A (p.Phe64Ile) c.442T>A (p.Phe148Ile) | gnomAD v4 |
6 | g.73641796T>A | CA450912155 | SLC17A5 | c.420A>T (p.Gly140=) n.186A>T c.369A>T (p.Gly123=) c.222A>T (p.Gly74=) c.189A>T (p.Gly63=) c.441A>T (p.Gly147=) | |
6 | g.73641796T>C | CA450912156 | SLC17A5 | c.420A>G (p.Gly140=) n.186A>G c.369A>G (p.Gly123=) c.222A>G (p.Gly74=) c.189A>G (p.Gly63=) c.441A>G (p.Gly147=) | |
6 | g.73641796T>G | CA450912157 | SLC17A5 | c.420A>C (p.Gly140=) n.186A>C c.369A>C (p.Gly123=) c.222A>C (p.Gly74=) c.189A>C (p.Gly63=) c.441A>C (p.Gly147=) | |
6 | g.73641797C>A | CA364718113 | SLC17A5 | c.419G>T (p.Gly140Val) n.185G>T c.368G>T (p.Gly123Val) c.221G>T (p.Gly74Val) c.188G>T (p.Gly63Val) c.440G>T (p.Gly147Val) | |
6 | g.73641797C>G | CA364718114 | SLC17A5 | c.419G>C (p.Gly140Ala) n.185G>C c.368G>C (p.Gly123Ala) c.221G>C (p.Gly74Ala) c.188G>C (p.Gly63Ala) c.440G>C (p.Gly147Ala) | |
6 | g.73641797C>T | CA364718115 | SLC17A5 | c.419G>A (p.Gly140Glu) n.185G>A c.368G>A (p.Gly123Glu) c.221G>A (p.Gly74Glu) c.188G>A (p.Gly63Glu) c.440G>A (p.Gly147Glu) | |
6 | g.73641798C>A | CA364718116 | SLC17A5 | c.418G>T (p.Gly140Ter) n.184G>T c.367G>T (p.Gly123Ter) c.220G>T (p.Gly74Ter) c.187G>T (p.Gly63Ter) c.439G>T (p.Gly147Ter) | |
6 | g.73641798C= | CA1638223053 | SLC17A5 | c.418G= (p.Gly140=) n.184G= c.367G= (p.Gly123=) c.220G= (p.Gly74=) c.187G= (p.Gly63=) c.439G= (p.Gly147=) | |
6 | g.73641798C>G | CA364718117 | SLC17A5 | c.418G>C (p.Gly140Arg) n.184G>C c.367G>C (p.Gly123Arg) c.220G>C (p.Gly74Arg) c.187G>C (p.Gly63Arg) c.439G>C (p.Gly147Arg) | |
6 | g.73641798C>T | CA3890535 | SLC17A5 | c.418G>A (p.Gly140Arg) n.184G>A c.367G>A (p.Gly123Arg) c.220G>A (p.Gly74Arg) c.187G>A (p.Gly63Arg) c.439G>A (p.Gly147Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641799T>A | CA450912158 | SLC17A5 | c.417A>T (p.Leu139=) n.183A>T c.366A>T (p.Leu122=) c.219A>T (p.Leu73=) c.186A>T (p.Leu62=) c.438A>T (p.Leu146=) | |
6 | g.73641799T>C | CA450912159 | SLC17A5 | c.417A>G (p.Leu139=) n.183A>G c.366A>G (p.Leu122=) c.219A>G (p.Leu73=) c.186A>G (p.Leu62=) c.438A>G (p.Leu146=) | |
6 | g.73641799T>G | CA450912160 | SLC17A5 | c.417A>C (p.Leu139=) n.183A>C c.366A>C (p.Leu122=) c.219A>C (p.Leu73=) c.186A>C (p.Leu62=) c.438A>C (p.Leu146=) | |
6 | g.73641800A>C | CA364718118 | SLC17A5 | c.416T>G (p.Leu139Arg) n.182T>G c.365T>G (p.Leu122Arg) c.218T>G (p.Leu73Arg) c.185T>G (p.Leu62Arg) c.437T>G (p.Leu146Arg) | |
6 | g.73641800A>G | CA364718119 | SLC17A5 | c.416T>C (p.Leu139Pro) n.182T>C c.365T>C (p.Leu122Pro) c.218T>C (p.Leu73Pro) c.185T>C (p.Leu62Pro) c.437T>C (p.Leu146Pro) | |
6 | g.73641800A>T | CA364718120 | SLC17A5 | c.416T>A (p.Leu139Gln) n.182T>A c.365T>A (p.Leu122Gln) c.218T>A (p.Leu73Gln) c.185T>A (p.Leu62Gln) c.437T>A (p.Leu146Gln) | |
6 | g.73641801G>A | CA450912161 | SLC17A5 | c.415C>T (p.Leu139=) n.181C>T c.364C>T (p.Leu122=) c.217C>T (p.Leu73=) c.184C>T (p.Leu62=) c.436C>T (p.Leu146=) | |
6 | g.73641801G>C | CA364718121 | SLC17A5 | c.415C>G (p.Leu139Val) n.181C>G c.364C>G (p.Leu122Val) c.217C>G (p.Leu73Val) c.184C>G (p.Leu62Val) c.436C>G (p.Leu146Val) | |
6 | g.73641801G>T | CA364718122 | SLC17A5 | c.415C>A (p.Leu139Ile) n.181C>A c.364C>A (p.Leu122Ile) c.217C>A (p.Leu73Ile) c.184C>A (p.Leu62Ile) c.436C>A (p.Leu146Ile) | |
6 | g.73641802C>A | CA450912162 | SLC17A5 | c.414G>T (p.Leu138=) n.180G>T c.363G>T (p.Leu121=) c.216G>T (p.Leu72=) c.183G>T (p.Leu61=) c.435G>T (p.Leu145=) | |
6 | g.73641802C>G | CA450912163 | SLC17A5 | c.414G>C (p.Leu138=) n.180G>C c.363G>C (p.Leu121=) c.216G>C (p.Leu72=) c.183G>C (p.Leu61=) c.435G>C (p.Leu145=) | |
6 | g.73641802C>T | CA450912164 | SLC17A5 | c.414G>A (p.Leu138=) n.180G>A c.363G>A (p.Leu121=) c.216G>A (p.Leu72=) c.183G>A (p.Leu61=) c.435G>A (p.Leu145=) | |
6 | g.73641803A= | CA1638223057 | SLC17A5 | c.413T= (p.Leu138=) n.179T= c.362T= (p.Leu121=) c.215T= (p.Leu72=) c.182T= (p.Leu61=) c.434T= (p.Leu145=) | |
6 | g.73641803A>C | CA364718123 | SLC17A5 | c.413T>G (p.Leu138Arg) n.179T>G c.362T>G (p.Leu121Arg) c.215T>G (p.Leu72Arg) c.182T>G (p.Leu61Arg) c.434T>G (p.Leu145Arg) | |
6 | g.73641803A>G | CA3890536 | SLC17A5 | c.413T>C (p.Leu138Pro) n.179T>C c.362T>C (p.Leu121Pro) c.215T>C (p.Leu72Pro) c.182T>C (p.Leu61Pro) c.434T>C (p.Leu145Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641803A>T | CA364718124 | SLC17A5 | c.413T>A (p.Leu138Gln) n.179T>A c.362T>A (p.Leu121Gln) c.215T>A (p.Leu72Gln) c.182T>A (p.Leu61Gln) c.434T>A (p.Leu145Gln) | |
6 | g.73641804G>A | CA450912167 | SLC17A5 | c.412C>T (p.Leu138=) n.178C>T c.361C>T (p.Leu121=) c.214C>T (p.Leu72=) c.181C>T (p.Leu61=) c.433C>T (p.Leu145=) | |
6 | g.73641804G>C | CA364718125 | SLC17A5 | c.412C>G (p.Leu138Val) n.178C>G c.361C>G (p.Leu121Val) c.214C>G (p.Leu72Val) c.181C>G (p.Leu61Val) c.433C>G (p.Leu145Val) | COSMIC |
6 | g.73641804G>T | CA364718126 | SLC17A5 | c.412C>A (p.Leu138Met) n.178C>A c.361C>A (p.Leu121Met) c.214C>A (p.Leu72Met) c.181C>A (p.Leu61Met) c.433C>A (p.Leu145Met) | |
6 | g.73641805del | CA2578669715 | SLC17A5 | c.411del (p.Met137IlefsTer3) n.177del c.360del (p.Met120IlefsTer3) c.213del (p.Met71IlefsTer3) c.180del (p.Met60IlefsTer3) c.432del (p.Met144IlefsTer3) | |
6 | g.73641805C>A | CA364718127 | SLC17A5 | c.411G>T (p.Met137Ile) n.177G>T c.360G>T (p.Met120Ile) c.213G>T (p.Met71Ile) c.180G>T (p.Met60Ile) c.432G>T (p.Met144Ile) | |
6 | g.73641805C= | CA1638223060 | SLC17A5 | c.411G= (p.Met137=) n.177G= c.360G= (p.Met120=) c.213G= (p.Met71=) c.180G= (p.Met60=) c.432G= (p.Met144=) | |
6 | g.73641805C>G | CA364718128 | SLC17A5 | c.411G>C (p.Met137Ile) n.177G>C c.360G>C (p.Met120Ile) c.213G>C (p.Met71Ile) c.180G>C (p.Met60Ile) c.432G>C (p.Met144Ile) | |
6 | g.73641805C>T | CA140975664 | SLC17A5 | c.411G>A (p.Met137Ile) n.177G>A c.360G>A (p.Met120Ile) c.213G>A (p.Met71Ile) c.180G>A (p.Met60Ile) c.432G>A (p.Met144Ile) | dbSNP |
6 | g.73641806A>C | CA364718129 | SLC17A5 | c.410T>G (p.Met137Arg) n.176T>G c.359T>G (p.Met120Arg) c.212T>G (p.Met71Arg) c.179T>G (p.Met60Arg) c.431T>G (p.Met144Arg) | |
6 | g.73641806A>G | CA364718130 | SLC17A5 | c.410T>C (p.Met137Thr) n.176T>C c.359T>C (p.Met120Thr) c.212T>C (p.Met71Thr) c.179T>C (p.Met60Thr) c.431T>C (p.Met144Thr) | |
6 | g.73641806A>T | CA364718131 | SLC17A5 | c.410T>A (p.Met137Lys) n.176T>A c.359T>A (p.Met120Lys) c.212T>A (p.Met71Lys) c.179T>A (p.Met60Lys) c.431T>A (p.Met144Lys) | |
6 | g.73641806_73641807delinsAT | CA1638223063 | SLC17A5 | c.409_410delinsAT (p.Met137=) n.175_176delinsAT c.358_359delinsAT (p.Met120=) c.211_212delinsAT (p.Met71=) c.178_179delinsAT (p.Met60=) c.430_431delinsAT (p.Met144=) | |
6 | g.73641807T>A | CA364718132 | SLC17A5 | c.409A>T (p.Met137Leu) n.175A>T c.358A>T (p.Met120Leu) c.211A>T (p.Met71Leu) c.178A>T (p.Met60Leu) c.430A>T (p.Met144Leu) | |
6 | g.73641807T>C | CA364718133 | SLC17A5 | c.409A>G (p.Met137Val) n.175A>G c.358A>G (p.Met120Val) c.211A>G (p.Met71Val) c.178A>G (p.Met60Val) c.430A>G (p.Met144Val) | gnomAD v4 |
6 | g.73641807T>G | CA364718134 | SLC17A5 | c.409A>C (p.Met137Leu) n.175A>C c.358A>C (p.Met120Leu) c.211A>C (p.Met71Leu) c.178A>C (p.Met60Leu) c.430A>C (p.Met144Leu) | |
6 | g.73641810del | CA275529 | SLC17A5 | c.409del (p.Met137CysfsTer3) n.175del c.358del (p.Met120CysfsTer3) c.211del (p.Met71CysfsTer3) c.178del (p.Met60CysfsTer3) c.430del (p.Met144CysfsTer3) | ClinVar dbSNP gnomAD v4 |
6 | g.73641808T>A | CA364718135 | SLC17A5 | c.408A>T (p.Lys136Asn) n.174A>T c.357A>T (p.Lys119Asn) c.210A>T (p.Lys70Asn) c.177A>T (p.Lys59Asn) c.429A>T (p.Lys143Asn) | |
6 | g.73641808T>C | CA450912168 | SLC17A5 | c.408A>G (p.Lys136=) n.174A>G c.357A>G (p.Lys119=) c.210A>G (p.Lys70=) c.177A>G (p.Lys59=) c.429A>G (p.Lys143=) | ClinVar |
6 | g.73641808T>G | CA364718136 | SLC17A5 | c.408A>C (p.Lys136Asn) n.174A>C c.357A>C (p.Lys119Asn) c.210A>C (p.Lys70Asn) c.177A>C (p.Lys59Asn) c.429A>C (p.Lys143Asn) | |
6 | g.73641809T>A | CA364718137 | SLC17A5 | c.407A>T (p.Lys136Ile) n.173A>T c.356A>T (p.Lys119Ile) c.209A>T (p.Lys70Ile) c.176A>T (p.Lys59Ile) c.428A>T (p.Lys143Ile) | |
6 | g.73641809T>C | CA364718138 | SLC17A5 | c.407A>G (p.Lys136Arg) n.173A>G c.356A>G (p.Lys119Arg) c.209A>G (p.Lys70Arg) c.176A>G (p.Lys59Arg) c.428A>G (p.Lys143Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.73641809T>G | CA364718139 | SLC17A5 | c.407A>C (p.Lys136Thr) n.173A>C c.356A>C (p.Lys119Thr) c.209A>C (p.Lys70Thr) c.176A>C (p.Lys59Thr) c.428A>C (p.Lys143Thr) | gnomAD v4 |
6 | g.73641809T= | CA1638223073 | SLC17A5 | c.407A= (p.Lys136=) n.173A= c.356A= (p.Lys119=) c.209A= (p.Lys70=) c.176A= (p.Lys59=) c.428A= (p.Lys143=) | |
6 | g.73641810T>A | CA140975677 | SLC17A5 | c.406A>T (p.Lys136Ter) n.172A>T c.355A>T (p.Lys119Ter) c.208A>T (p.Lys70Ter) c.175A>T (p.Lys59Ter) c.427A>T (p.Lys143Ter) | dbSNP gnomAD v4 |
6 | g.73641810T>C | CA342129 | SLC17A5 | c.406A>G (p.Lys136Glu) n.172A>G c.355A>G (p.Lys119Glu) c.208A>G (p.Lys70Glu) c.175A>G (p.Lys59Glu) c.427A>G (p.Lys143Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641810T>G | CA364718140 | SLC17A5 | c.406A>C (p.Lys136Gln) n.172A>C c.355A>C (p.Lys119Gln) c.208A>C (p.Lys70Gln) c.175A>C (p.Lys59Gln) c.427A>C (p.Lys143Gln) | |
6 | g.73641810T= | CA1638223079 | SLC17A5 | c.406A= (p.Lys136=) n.172A= c.355A= (p.Lys119=) c.208A= (p.Lys70=) c.175A= (p.Lys59=) c.427A= (p.Lys143=) | |
6 | g.73641811C>A | CA450912169 | SLC17A5 | c.405G>T (p.Gly135=) n.171G>T c.354G>T (p.Gly118=) c.207G>T (p.Gly69=) c.174G>T (p.Gly58=) c.426G>T (p.Gly142=) | gnomAD v4 |
6 | g.73641811C= | CA1638223087 | SLC17A5 | c.405G= (p.Gly135=) n.171G= c.354G= (p.Gly118=) c.207G= (p.Gly69=) c.174G= (p.Gly58=) c.426G= (p.Gly142=) | |
6 | g.73641811C>G | CA450912170 | SLC17A5 | c.405G>C (p.Gly135=) n.171G>C c.354G>C (p.Gly118=) c.207G>C (p.Gly69=) c.174G>C (p.Gly58=) c.426G>C (p.Gly142=) | |
6 | g.73641811C>T | CA3890537 | SLC17A5 | c.405G>A (p.Gly135=) n.171G>A c.354G>A (p.Gly118=) c.207G>A (p.Gly69=) c.174G>A (p.Gly58=) c.426G>A (p.Gly142=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641816dup | CA2679404899 | SLC17A5 | c.405dup (p.Lys136GlufsTer?) n.171dup c.354dup (p.Lys119GlufsTer?) c.207dup (p.Lys70GlufsTer?) c.174dup (p.Lys59GlufsTer?) c.426dup (p.Lys143GlufsTer?) | gnomAD v4 |
6 | g.73641812C>A | CA364718141 | SLC17A5 | c.404G>T (p.Gly135Val) n.170G>T c.353G>T (p.Gly118Val) c.206G>T (p.Gly69Val) c.173G>T (p.Gly58Val) c.425G>T (p.Gly142Val) | |
6 | g.73641812C= | CA1638223090 | SLC17A5 | c.404G= (p.Gly135=) n.170G= c.353G= (p.Gly118=) c.206G= (p.Gly69=) c.173G= (p.Gly58=) c.425G= (p.Gly142=) | |
6 | g.73641812C>G | CA364718142 | SLC17A5 | c.404G>C (p.Gly135Ala) n.170G>C c.353G>C (p.Gly118Ala) c.206G>C (p.Gly69Ala) c.173G>C (p.Gly58Ala) c.425G>C (p.Gly142Ala) | |
6 | g.73641812C>T | CA140975701 | SLC17A5 | c.404G>A (p.Gly135Glu) n.170G>A c.353G>A (p.Gly118Glu) c.206G>A (p.Gly69Glu) c.173G>A (p.Gly58Glu) c.425G>A (p.Gly142Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641813C>A | CA364718143 | SLC17A5 | c.403G>T (p.Gly135Trp) n.169G>T c.352G>T (p.Gly118Trp) c.205G>T (p.Gly69Trp) c.172G>T (p.Gly58Trp) c.424G>T (p.Gly142Trp) | |
6 | g.73641813C>G | CA364718144 | SLC17A5 | c.403G>C (p.Gly135Arg) n.169G>C c.352G>C (p.Gly118Arg) c.205G>C (p.Gly69Arg) c.172G>C (p.Gly58Arg) c.424G>C (p.Gly142Arg) | |
6 | g.73641813C>T | CA364718145 | SLC17A5 | c.403G>A (p.Gly135Arg) n.169G>A c.352G>A (p.Gly118Arg) c.205G>A (p.Gly69Arg) c.172G>A (p.Gly58Arg) c.424G>A (p.Gly142Arg) | gnomAD v4 |
6 | g.73641814C>A | CA450912171 | SLC17A5 | c.402G>T (p.Gly134=) n.168G>T c.351G>T (p.Gly117=) c.204G>T (p.Gly68=) c.171G>T (p.Gly57=) c.423G>T (p.Gly141=) | gnomAD v4 |
6 | g.73641814C>G | CA450912172 | SLC17A5 | c.402G>C (p.Gly134=) n.168G>C c.351G>C (p.Gly117=) c.204G>C (p.Gly68=) c.171G>C (p.Gly57=) c.423G>C (p.Gly141=) | |
6 | g.73641814C>T | CA450912173 | SLC17A5 | c.402G>A (p.Gly134=) n.168G>A c.351G>A (p.Gly117=) c.204G>A (p.Gly68=) c.171G>A (p.Gly57=) c.423G>A (p.Gly141=) | gnomAD v4 |
6 | g.73641814_73641817del | CA913111549 | SLC17A5 | c.399_402del (p.Ile133MetfsTer6) n.165_168del c.348_351del (p.Ile116MetfsTer6) c.201_204del (p.Ile67MetfsTer6) c.168_171del (p.Ile56MetfsTer6) c.420_423del (p.Ile140MetfsTer6) | |
6 | g.73641815C>A | CA364718146 | SLC17A5 | c.401G>T (p.Gly134Val) n.167G>T c.350G>T (p.Gly117Val) c.203G>T (p.Gly68Val) c.170G>T (p.Gly57Val) c.422G>T (p.Gly141Val) | ClinVar gnomAD v4 |
6 | g.73641815C>G | CA364718148 | SLC17A5 | c.401G>C (p.Gly134Ala) n.167G>C c.350G>C (p.Gly117Ala) c.203G>C (p.Gly68Ala) c.170G>C (p.Gly57Ala) c.422G>C (p.Gly141Ala) | gnomAD v4 |
6 | g.73641815C>T | CA364718147 | SLC17A5 | c.401G>A (p.Gly134Glu) n.167G>A c.350G>A (p.Gly117Glu) c.203G>A (p.Gly68Glu) c.170G>A (p.Gly57Glu) c.422G>A (p.Gly141Glu) | |
6 | g.73641816C>A | CA364718149 | SLC17A5 | c.400G>T (p.Gly134Trp) n.166G>T c.349G>T (p.Gly117Trp) c.202G>T (p.Gly68Trp) c.169G>T (p.Gly57Trp) c.421G>T (p.Gly141Trp) | |
6 | g.73641816C= | CA1638223093 | SLC17A5 | c.400G= (p.Gly134=) n.166G= c.349G= (p.Gly117=) c.202G= (p.Gly68=) c.169G= (p.Gly57=) c.421G= (p.Gly141=) | |
6 | g.73641816C>G | CA364718150 | SLC17A5 | c.400G>C (p.Gly134Arg) n.166G>C c.349G>C (p.Gly117Arg) c.202G>C (p.Gly68Arg) c.169G>C (p.Gly57Arg) c.421G>C (p.Gly141Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73641816C>T | CA364718151 | SLC17A5 | c.400G>A (p.Gly134Arg) n.166G>A c.349G>A (p.Gly117Arg) c.202G>A (p.Gly68Arg) c.169G>A (p.Gly57Arg) c.421G>A (p.Gly141Arg) | gnomAD v4 |
6 | g.73641817T>A | CA450912174 | SLC17A5 | c.399A>T (p.Ile133=) n.165A>T c.348A>T (p.Ile116=) c.201A>T (p.Ile67=) c.168A>T (p.Ile56=) c.420A>T (p.Ile140=) | |
6 | g.73641817T>C | CA364718152 | SLC17A5 | c.399A>G (p.Ile133Met) n.165A>G c.348A>G (p.Ile116Met) c.201A>G (p.Ile67Met) c.168A>G (p.Ile56Met) c.420A>G (p.Ile140Met) | |
6 | g.73641817T>G | CA450912175 | SLC17A5 | c.399A>C (p.Ile133=) n.165A>C c.348A>C (p.Ile116=) c.201A>C (p.Ile67=) c.168A>C (p.Ile56=) c.420A>C (p.Ile140=) | |
6 | g.73641818A>C | CA364718153 | SLC17A5 | c.398T>G (p.Ile133Arg) n.164T>G c.347T>G (p.Ile116Arg) c.200T>G (p.Ile67Arg) c.167T>G (p.Ile56Arg) c.419T>G (p.Ile140Arg) | |
6 | g.73641818A>G | CA364718154 | SLC17A5 | c.398T>C (p.Ile133Thr) n.164T>C c.347T>C (p.Ile116Thr) c.200T>C (p.Ile67Thr) c.167T>C (p.Ile56Thr) c.419T>C (p.Ile140Thr) | gnomAD v4 |
6 | g.73641818A>T | CA364718155 | SLC17A5 | c.398T>A (p.Ile133Lys) n.164T>A c.347T>A (p.Ile116Lys) c.200T>A (p.Ile67Lys) c.167T>A (p.Ile56Lys) c.419T>A (p.Ile140Lys) | |
6 | g.73641819T>A | CA364718156 | SLC17A5 | c.397A>T (p.Ile133Leu) n.163A>T c.346A>T (p.Ile116Leu) c.199A>T (p.Ile67Leu) c.166A>T (p.Ile56Leu) c.418A>T (p.Ile140Leu) | |
6 | g.73641819T>C | CA364718157 | SLC17A5 | c.397A>G (p.Ile133Val) n.163A>G c.346A>G (p.Ile116Val) c.199A>G (p.Ile67Val) c.166A>G (p.Ile56Val) c.418A>G (p.Ile140Val) | |
6 | g.73641819T>G | CA364718158 | SLC17A5 | c.397A>C (p.Ile133Leu) n.163A>C c.346A>C (p.Ile116Leu) c.199A>C (p.Ile67Leu) c.166A>C (p.Ile56Leu) c.418A>C (p.Ile140Leu) | |
6 | g.73641820T>A | CA364718159 | SLC17A5 | c.396A>T (p.Lys132Asn) n.162A>T c.345A>T (p.Lys115Asn) c.198A>T (p.Lys66Asn) c.165A>T (p.Lys55Asn) c.417A>T (p.Lys139Asn) | |
6 | g.73641820T>C | CA3890538 | SLC17A5 | c.396A>G (p.Lys132=) n.162A>G c.345A>G (p.Lys115=) c.198A>G (p.Lys66=) c.165A>G (p.Lys55=) c.417A>G (p.Lys139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641820T>G | CA364718160 | SLC17A5 | c.396A>C (p.Lys132Asn) n.162A>C c.345A>C (p.Lys115Asn) c.198A>C (p.Lys66Asn) c.165A>C (p.Lys55Asn) c.417A>C (p.Lys139Asn) | |
6 | g.73641820T= | CA1638223096 | SLC17A5 | c.396A= (p.Lys132=) n.162A= c.345A= (p.Lys115=) c.198A= (p.Lys66=) c.165A= (p.Lys55=) c.417A= (p.Lys139=) | |
6 | g.73641821T>A | CA364718163 | SLC17A5 | c.395A>T (p.Lys132Ile) n.161A>T c.344A>T (p.Lys115Ile) c.197A>T (p.Lys66Ile) c.164A>T (p.Lys55Ile) c.416A>T (p.Lys139Ile) | |
6 | g.73641821T>C | CA364718162 | SLC17A5 | c.395A>G (p.Lys132Arg) n.161A>G c.344A>G (p.Lys115Arg) c.197A>G (p.Lys66Arg) c.164A>G (p.Lys55Arg) c.416A>G (p.Lys139Arg) | |
6 | g.73641821T>G | CA364718161 | SLC17A5 | c.395A>C (p.Lys132Thr) n.161A>C c.344A>C (p.Lys115Thr) c.197A>C (p.Lys66Thr) c.164A>C (p.Lys55Thr) c.416A>C (p.Lys139Thr) | |
6 | g.73641822T>A | CA364718164 | SLC17A5 | c.394A>T (p.Lys132Ter) n.160A>T c.343A>T (p.Lys115Ter) c.196A>T (p.Lys66Ter) c.163A>T (p.Lys55Ter) c.415A>T (p.Lys139Ter) | |
6 | g.73641822T>C | CA364718165 | SLC17A5 | c.394A>G (p.Lys132Glu) n.160A>G c.343A>G (p.Lys115Glu) c.196A>G (p.Lys66Glu) c.163A>G (p.Lys55Glu) c.415A>G (p.Lys139Glu) | |
6 | g.73641822T>G | CA3890539 | SLC17A5 | c.394A>C (p.Lys132Gln) n.160A>C c.343A>C (p.Lys115Gln) c.196A>C (p.Lys66Gln) c.163A>C (p.Lys55Gln) c.415A>C (p.Lys139Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73641822T= | CA1638223099 | SLC17A5 | c.394A= (p.Lys132=) n.160A= c.343A= (p.Lys115=) c.196A= (p.Lys66=) c.163A= (p.Lys55=) c.415A= (p.Lys139=) | |
6 | g.73641823G>A | CA450912176 | SLC17A5 | c.393C>T (p.Ser131=) n.159C>T c.342C>T (p.Ser114=) c.195C>T (p.Ser65=) c.162C>T (p.Ser54=) c.414C>T (p.Ser138=) | |
6 | g.73641823G>C | CA364718166 | SLC17A5 | c.393C>G (p.Ser131Arg) n.159C>G c.342C>G (p.Ser114Arg) c.195C>G (p.Ser65Arg) c.162C>G (p.Ser54Arg) c.414C>G (p.Ser138Arg) | gnomAD v4 |
6 | g.73641823G>T | CA364718167 | SLC17A5 | c.393C>A (p.Ser131Arg) n.159C>A c.342C>A (p.Ser114Arg) c.195C>A (p.Ser65Arg) c.162C>A (p.Ser54Arg) c.414C>A (p.Ser138Arg) | gnomAD v4 |
6 | g.73641824C>A | CA364718168 | SLC17A5 | c.392G>T (p.Ser131Ile) n.158G>T c.341G>T (p.Ser114Ile) c.194G>T (p.Ser65Ile) c.161G>T (p.Ser54Ile) c.413G>T (p.Ser138Ile) | |
6 | g.73641824C>G | CA364718169 | SLC17A5 | c.392G>C (p.Ser131Thr) n.158G>C c.341G>C (p.Ser114Thr) c.194G>C (p.Ser65Thr) c.161G>C (p.Ser54Thr) c.413G>C (p.Ser138Thr) | |
6 | g.73641824C>T | CA364718170 | SLC17A5 | c.392G>A (p.Ser131Asn) n.158G>A c.341G>A (p.Ser114Asn) c.194G>A (p.Ser65Asn) c.161G>A (p.Ser54Asn) c.413G>A (p.Ser138Asn) | COSMIC |
6 | g.73641825T>A | CA364718171 | SLC17A5 | c.391A>T (p.Ser131Cys) n.157A>T c.340A>T (p.Ser114Cys) c.193A>T (p.Ser65Cys) c.160A>T (p.Ser54Cys) c.412A>T (p.Ser138Cys) | |
6 | g.73641825T>C | CA364718172 | SLC17A5 | c.391A>G (p.Ser131Gly) n.157A>G c.340A>G (p.Ser114Gly) c.193A>G (p.Ser65Gly) c.160A>G (p.Ser54Gly) c.412A>G (p.Ser138Gly) | |
6 | g.73641825T>G | CA364718173 | SLC17A5 | c.391A>C (p.Ser131Arg) n.157A>C c.340A>C (p.Ser114Arg) c.193A>C (p.Ser65Arg) c.160A>C (p.Ser54Arg) c.412A>C (p.Ser138Arg) | |
6 | g.73641826G>A | CA450912179 | SLC17A5 | c.390C>T (p.Ala130=) n.156C>T c.339C>T (p.Ala113=) c.192C>T (p.Ala64=) c.159C>T (p.Ala53=) c.411C>T (p.Ala137=) | |
6 | g.73641826G>C | CA450912177 | SLC17A5 | c.390C>G (p.Ala130=) n.156C>G c.339C>G (p.Ala113=) c.192C>G (p.Ala64=) c.159C>G (p.Ala53=) c.411C>G (p.Ala137=) | |
6 | g.73641826G>T | CA450912178 | SLC17A5 | c.390C>A (p.Ala130=) n.156C>A c.339C>A (p.Ala113=) c.192C>A (p.Ala64=) c.159C>A (p.Ala53=) c.411C>A (p.Ala137=) | |
6 | g.73641827del | CA2580075800 | SLC17A5 | c.390del (p.Ser131AlafsTer3) n.156del c.339del (p.Ser114AlafsTer3) c.192del (p.Ser65AlafsTer3) c.159del (p.Ser54AlafsTer3) c.411del (p.Ser138AlafsTer3) | ClinVar |
6 | g.73641827G>A | CA364718174 | SLC17A5 | c.389C>T (p.Ala130Val) n.155C>T c.338C>T (p.Ala113Val) c.191C>T (p.Ala64Val) c.158C>T (p.Ala53Val) c.410C>T (p.Ala137Val) | |
6 | g.73641827G>C | CA364718175 | SLC17A5 | c.389C>G (p.Ala130Gly) n.155C>G c.338C>G (p.Ala113Gly) c.191C>G (p.Ala64Gly) c.158C>G (p.Ala53Gly) c.410C>G (p.Ala137Gly) | |
6 | g.73641827G>T | CA364718176 | SLC17A5 | c.389C>A (p.Ala130Asp) n.155C>A c.338C>A (p.Ala113Asp) c.191C>A (p.Ala64Asp) c.158C>A (p.Ala53Asp) c.410C>A (p.Ala137Asp) | |
6 | g.73641828C>A | CA364718177 | SLC17A5 | c.388G>T (p.Ala130Ser) n.154G>T c.337G>T (p.Ala113Ser) c.190G>T (p.Ala64Ser) c.157G>T (p.Ala53Ser) c.409G>T (p.Ala137Ser) | |
6 | g.73641828C= | CA1638223102 | SLC17A5 | c.388G= (p.Ala130=) n.154G= c.337G= (p.Ala113=) c.190G= (p.Ala64=) c.157G= (p.Ala53=) c.409G= (p.Ala137=) | |
6 | g.73641828C>G | CA364718178 | SLC17A5 | c.388G>C (p.Ala130Pro) n.154G>C c.337G>C (p.Ala113Pro) c.190G>C (p.Ala64Pro) c.157G>C (p.Ala53Pro) c.409G>C (p.Ala137Pro) | |
6 | g.73641828C>T | CA140975719 | SLC17A5 | c.388G>A (p.Ala130Thr) n.154G>A c.337G>A (p.Ala113Thr) c.190G>A (p.Ala64Thr) c.157G>A (p.Ala53Thr) c.409G>A (p.Ala137Thr) | ClinVar dbSNP |
6 | g.73641829A= | CA1638223106 | SLC17A5 | c.387T= (p.Val129=) n.153T= c.336T= (p.Val112=) c.189T= (p.Val63=) c.156T= (p.Val52=) c.408T= (p.Val136=) | |
6 | g.73641829A>C | CA450912180 | SLC17A5 | c.387T>G (p.Val129=) n.153T>G c.336T>G (p.Val112=) c.189T>G (p.Val63=) c.156T>G (p.Val52=) c.408T>G (p.Val136=) | |
6 | g.73641829A>G | CA3890540 | SLC17A5 | c.387T>C (p.Val129=) n.153T>C c.336T>C (p.Val112=) c.189T>C (p.Val63=) c.156T>C (p.Val52=) c.408T>C (p.Val136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73641829A>T | CA450912181 | SLC17A5 | c.387T>A (p.Val129=) n.153T>A c.336T>A (p.Val112=) c.189T>A (p.Val63=) c.156T>A (p.Val52=) c.408T>A (p.Val136=) | |
6 | g.73641830A>C | CA364718179 | SLC17A5 | c.386T>G (p.Val129Gly) n.152T>G c.335T>G (p.Val112Gly) c.188T>G (p.Val63Gly) c.155T>G (p.Val52Gly) c.407T>G (p.Val136Gly) | |
6 | g.73641830A>G | CA364718180 | SLC17A5 | c.386T>C (p.Val129Ala) n.152T>C c.335T>C (p.Val112Ala) c.188T>C (p.Val63Ala) c.155T>C (p.Val52Ala) c.407T>C (p.Val136Ala) | |
6 | g.73641830A>T | CA364718181 | SLC17A5 | c.386T>A (p.Val129Asp) n.152T>A c.335T>A (p.Val112Asp) c.188T>A (p.Val63Asp) c.155T>A (p.Val52Asp) c.407T>A (p.Val136Asp) | |
6 | g.73641831C>A | CA364718182 | SLC17A5 | c.385G>T (p.Val129Phe) n.151G>T c.334G>T (p.Val112Phe) c.187G>T (p.Val63Phe) c.154G>T (p.Val52Phe) c.406G>T (p.Val136Phe) | |
6 | g.73641831C>G | CA364718183 | SLC17A5 | c.385G>C (p.Val129Leu) n.151G>C c.334G>C (p.Val112Leu) c.187G>C (p.Val63Leu) c.154G>C (p.Val52Leu) c.406G>C (p.Val136Leu) | |
6 | g.73641831C>T | CA364718184 | SLC17A5 | c.385G>A (p.Val129Ile) n.151G>A c.334G>A (p.Val112Ile) c.187G>A (p.Val63Ile) c.154G>A (p.Val52Ile) c.406G>A (p.Val136Ile) | |
6 | g.73641832A= | CA1638223111 | SLC17A5 | c.384T= (p.Tyr128=) n.150T= c.333T= (p.Tyr111=) c.186T= (p.Tyr62=) c.153T= (p.Tyr51=) c.405T= (p.Tyr135=) | |
6 | g.73641832A>C | CA364718185 | SLC17A5 | c.384T>G (p.Tyr128Ter) n.150T>G c.333T>G (p.Tyr111Ter) c.186T>G (p.Tyr62Ter) c.153T>G (p.Tyr51Ter) c.405T>G (p.Tyr135Ter) | |
6 | g.73641832A>G | CA450912182 | SLC17A5 | c.384T>C (p.Tyr128=) n.150T>C c.333T>C (p.Tyr111=) c.186T>C (p.Tyr62=) c.153T>C (p.Tyr51=) c.405T>C (p.Tyr135=) | |
6 | g.73641832A>T | CA16041085 | SLC17A5 | c.384T>A (p.Tyr128Ter) n.150T>A c.333T>A (p.Tyr111Ter) c.186T>A (p.Tyr62Ter) c.153T>A (p.Tyr51Ter) c.405T>A (p.Tyr135Ter) | ClinVar dbSNP gnomAD v4 |
6 | g.73641833T>A | CA364718186 | SLC17A5 | c.383A>T (p.Tyr128Phe) n.149A>T c.332A>T (p.Tyr111Phe) c.185A>T (p.Tyr62Phe) c.152A>T (p.Tyr51Phe) c.404A>T (p.Tyr135Phe) | |
6 | g.73641833T>C | CA364718187 | SLC17A5 | c.383A>G (p.Tyr128Cys) n.149A>G c.332A>G (p.Tyr111Cys) c.185A>G (p.Tyr62Cys) c.152A>G (p.Tyr51Cys) c.404A>G (p.Tyr135Cys) | |
6 | g.73641833T>G | CA364718188 | SLC17A5 | c.383A>C (p.Tyr128Ser) n.149A>C c.332A>C (p.Tyr111Ser) c.185A>C (p.Tyr62Ser) c.152A>C (p.Tyr51Ser) c.404A>C (p.Tyr135Ser) | |
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) |