Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.73610434C>A | CA364720947 | SLC17A5 | c.1225G>T (p.Gly409Ter) c.1174G>T (p.Gly392Ter) c.1027G>T (p.Gly343Ter) c.1111+4881G>T (n.1111+4881G>T) c.994G>T (p.Gly332Ter) c.1246G>T (p.Gly416Ter) c.1138G>T (p.Gly380Ter) c.1066G>T (p.Gly356Ter) c.1222G>T (p.Gly408Ter) c.907G>T (p.Gly303Ter) | |
6 | g.73610434C>G | CA364720949 | SLC17A5 | c.1225G>C (p.Gly409Arg) c.1174G>C (p.Gly392Arg) c.1027G>C (p.Gly343Arg) c.1111+4881G>C (n.1111+4881G>C) c.994G>C (p.Gly332Arg) c.1246G>C (p.Gly416Arg) c.1138G>C (p.Gly380Arg) c.1066G>C (p.Gly356Arg) c.1222G>C (p.Gly408Arg) c.907G>C (p.Gly303Arg) | |
6 | g.73610434C>T | CA364720946 | SLC17A5 | c.1225G>A (p.Gly409Arg) c.1174G>A (p.Gly392Arg) c.1027G>A (p.Gly343Arg) c.1111+4881G>A (n.1111+4881G>A) c.994G>A (p.Gly332Arg) c.1246G>A (p.Gly416Arg) c.1138G>A (p.Gly380Arg) c.1066G>A (p.Gly356Arg) c.1222G>A (p.Gly408Arg) c.907G>A (p.Gly303Arg) | |
6 | g.73610435A>C | CA450914536 | SLC17A5 | c.1224T>G (p.Ser408=) c.1173T>G (p.Ser391=) c.1026T>G (p.Ser342=) c.1111+4880T>G (n.1111+4880T>G) c.993T>G (p.Ser331=) c.1245T>G (p.Ser415=) c.1137T>G (p.Ser379=) c.1065T>G (p.Ser355=) c.1221T>G (p.Ser407=) c.906T>G (p.Ser302=) | |
6 | g.73610435A>G | CA450914537 | SLC17A5 | c.1224T>C (p.Ser408=) c.1173T>C (p.Ser391=) c.1026T>C (p.Ser342=) c.1111+4880T>C (n.1111+4880T>C) c.993T>C (p.Ser331=) c.1245T>C (p.Ser415=) c.1137T>C (p.Ser379=) c.1065T>C (p.Ser355=) c.1221T>C (p.Ser407=) c.906T>C (p.Ser302=) | |
6 | g.73610435A>T | CA450914539 | SLC17A5 | c.1224T>A (p.Ser408=) c.1173T>A (p.Ser391=) c.1026T>A (p.Ser342=) c.1111+4880T>A (n.1111+4880T>A) c.993T>A (p.Ser331=) c.1245T>A (p.Ser415=) c.1137T>A (p.Ser379=) c.1065T>A (p.Ser355=) c.1221T>A (p.Ser407=) c.906T>A (p.Ser302=) | |
6 | g.73610435_73610436delinsAG | CA1638229750 | SLC17A5 | c.1223_1224delinsCT (p.Ser408=) c.1172_1173delinsCT (p.Ser391=) c.1025_1026delinsCT (p.Ser342=) c.1111+4879_1111+4880delinsCT (n.1111+4879_1111+4880delinsCT) c.992_993delinsCT (p.Ser331=) c.1244_1245delinsCT (p.Ser415=) c.1136_1137delinsCT (p.Ser379=) c.1064_1065delinsCT (p.Ser355=) c.1220_1221delinsCT (p.Ser407=) c.905_906delinsCT (p.Ser302=) | |
6 | g.73610436del | CA140979010 | SLC17A5 | c.1223del (p.Ser408LeufsTer?) c.1172del (p.Ser391LeufsTer?) c.1025del (p.Ser342LeufsTer?) c.1111+4879del (n.1111+4879del) c.992del (p.Ser331LeufsTer?) c.1223del (p.Ser408LeufsTer29) c.1244del (p.Ser415LeufsTer?) c.1136del (p.Ser379LeufsTer?) c.1064del (p.Ser355LeufsTer?) c.1220del (p.Ser407LeufsTer?) c.905del (p.Ser302LeufsTer?) | ClinVar dbSNP gnomAD v4 |
6 | g.73610436G>A | CA364720951 | SLC17A5 | c.1223C>T (p.Ser408Phe) c.1172C>T (p.Ser391Phe) c.1025C>T (p.Ser342Phe) c.1111+4879C>T (n.1111+4879C>T) c.992C>T (p.Ser331Phe) c.1244C>T (p.Ser415Phe) c.1136C>T (p.Ser379Phe) c.1064C>T (p.Ser355Phe) c.1220C>T (p.Ser407Phe) c.905C>T (p.Ser302Phe) | |
6 | g.73610436G>C | CA364720952 | SLC17A5 | c.1223C>G (p.Ser408Cys) c.1172C>G (p.Ser391Cys) c.1025C>G (p.Ser342Cys) c.1111+4879C>G (n.1111+4879C>G) c.992C>G (p.Ser331Cys) c.1244C>G (p.Ser415Cys) c.1136C>G (p.Ser379Cys) c.1064C>G (p.Ser355Cys) c.1220C>G (p.Ser407Cys) c.905C>G (p.Ser302Cys) | |
6 | g.73610436G>T | CA364720953 | SLC17A5 | c.1223C>A (p.Ser408Tyr) c.1172C>A (p.Ser391Tyr) c.1025C>A (p.Ser342Tyr) c.1111+4879C>A (n.1111+4879C>A) c.992C>A (p.Ser331Tyr) c.1244C>A (p.Ser415Tyr) c.1136C>A (p.Ser379Tyr) c.1064C>A (p.Ser355Tyr) c.1220C>A (p.Ser407Tyr) c.905C>A (p.Ser302Tyr) | |
6 | g.73610437A>C | CA364720956 | SLC17A5 | c.1222T>G (p.Ser408Ala) c.1171T>G (p.Ser391Ala) c.1024T>G (p.Ser342Ala) c.1111+4878T>G (n.1111+4878T>G) c.991T>G (p.Ser331Ala) c.1243T>G (p.Ser415Ala) c.1135T>G (p.Ser379Ala) c.1063T>G (p.Ser355Ala) c.1219T>G (p.Ser407Ala) c.904T>G (p.Ser302Ala) | |
6 | g.73610437A>G | CA364720957 | SLC17A5 | c.1222T>C (p.Ser408Pro) c.1171T>C (p.Ser391Pro) c.1024T>C (p.Ser342Pro) c.1111+4878T>C (n.1111+4878T>C) c.991T>C (p.Ser331Pro) c.1243T>C (p.Ser415Pro) c.1135T>C (p.Ser379Pro) c.1063T>C (p.Ser355Pro) c.1219T>C (p.Ser407Pro) c.904T>C (p.Ser302Pro) | |
6 | g.73610437A>T | CA364720959 | SLC17A5 | c.1222T>A (p.Ser408Thr) c.1171T>A (p.Ser391Thr) c.1024T>A (p.Ser342Thr) c.1111+4878T>A (n.1111+4878T>A) c.991T>A (p.Ser331Thr) c.1243T>A (p.Ser415Thr) c.1135T>A (p.Ser379Thr) c.1063T>A (p.Ser355Thr) c.1219T>A (p.Ser407Thr) c.904T>A (p.Ser302Thr) | |
6 | g.73610438del | CA364720960 | SLC17A5 | c.1222del (p.Ser408LeufsTer?) c.1171del (p.Ser391LeufsTer?) c.1024del (p.Ser342LeufsTer?) c.1111+4878del (n.1111+4878del) c.991del (p.Ser331LeufsTer?) c.1222del (p.Ser408LeufsTer29) c.1243del (p.Ser415LeufsTer?) c.1135del (p.Ser379LeufsTer?) c.1063del (p.Ser355LeufsTer?) c.1219del (p.Ser407LeufsTer?) c.904del (p.Ser302LeufsTer?) | |
6 | g.73610438A>C | CA450914548 | SLC17A5 | c.1221T>G (p.Ser407=) c.1170T>G (p.Ser390=) c.1023T>G (p.Ser341=) c.1111+4877T>G (n.1111+4877T>G) c.990T>G (p.Ser330=) c.1242T>G (p.Ser414=) c.1134T>G (p.Ser378=) c.1062T>G (p.Ser354=) c.1218T>G (p.Ser406=) c.903T>G (p.Ser301=) | |
6 | g.73610438A>G | CA450914546 | SLC17A5 | c.1221T>C (p.Ser407=) c.1170T>C (p.Ser390=) c.1023T>C (p.Ser341=) c.1111+4877T>C (n.1111+4877T>C) c.990T>C (p.Ser330=) c.1242T>C (p.Ser414=) c.1134T>C (p.Ser378=) c.1062T>C (p.Ser354=) c.1218T>C (p.Ser406=) c.903T>C (p.Ser301=) | gnomAD v4 COSMIC |
6 | g.73610438A>T | CA450914550 | SLC17A5 | c.1221T>A (p.Ser407=) c.1170T>A (p.Ser390=) c.1023T>A (p.Ser341=) c.1111+4877T>A (n.1111+4877T>A) c.990T>A (p.Ser330=) c.1242T>A (p.Ser414=) c.1134T>A (p.Ser378=) c.1062T>A (p.Ser354=) c.1218T>A (p.Ser406=) c.903T>A (p.Ser301=) | |
6 | g.73610439G>A | CA364720962 | SLC17A5 | c.1220C>T (p.Ser407Phe) c.1169C>T (p.Ser390Phe) c.1022C>T (p.Ser341Phe) c.1111+4876C>T (n.1111+4876C>T) c.989C>T (p.Ser330Phe) c.1241C>T (p.Ser414Phe) c.1133C>T (p.Ser378Phe) c.1061C>T (p.Ser354Phe) c.1217C>T (p.Ser406Phe) c.902C>T (p.Ser301Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.73610439G>C | CA364720964 | SLC17A5 | c.1220C>G (p.Ser407Cys) c.1169C>G (p.Ser390Cys) c.1022C>G (p.Ser341Cys) c.1111+4876C>G (n.1111+4876C>G) c.989C>G (p.Ser330Cys) c.1241C>G (p.Ser414Cys) c.1133C>G (p.Ser378Cys) c.1061C>G (p.Ser354Cys) c.1217C>G (p.Ser406Cys) c.902C>G (p.Ser301Cys) | |
6 | g.73610439G= | CA1638229751 | SLC17A5 | c.1220C= (p.Ser407=) c.1169C= (p.Ser390=) c.1022C= (p.Ser341=) c.1111+4876C= (n.1111+4876C=) c.989C= (p.Ser330=) c.1241C= (p.Ser414=) c.1133C= (p.Ser378=) c.1061C= (p.Ser354=) c.1217C= (p.Ser406=) c.902C= (p.Ser301=) | |
6 | g.73610439G>T | CA364720965 | SLC17A5 | c.1220C>A (p.Ser407Tyr) c.1169C>A (p.Ser390Tyr) c.1022C>A (p.Ser341Tyr) c.1111+4876C>A (n.1111+4876C>A) c.989C>A (p.Ser330Tyr) c.1241C>A (p.Ser414Tyr) c.1133C>A (p.Ser378Tyr) c.1061C>A (p.Ser354Tyr) c.1217C>A (p.Ser406Tyr) c.902C>A (p.Ser301Tyr) | |
6 | g.73610440A>C | CA364720967 | SLC17A5 | c.1219T>G (p.Ser407Ala) c.1168T>G (p.Ser390Ala) c.1021T>G (p.Ser341Ala) c.1111+4875T>G (n.1111+4875T>G) c.988T>G (p.Ser330Ala) c.1240T>G (p.Ser414Ala) c.1132T>G (p.Ser378Ala) c.1060T>G (p.Ser354Ala) c.1216T>G (p.Ser406Ala) c.901T>G (p.Ser301Ala) | |
6 | g.73610440A>G | CA364720969 | SLC17A5 | c.1219T>C (p.Ser407Pro) c.1168T>C (p.Ser390Pro) c.1021T>C (p.Ser341Pro) c.1111+4875T>C (n.1111+4875T>C) c.988T>C (p.Ser330Pro) c.1240T>C (p.Ser414Pro) c.1132T>C (p.Ser378Pro) c.1060T>C (p.Ser354Pro) c.1216T>C (p.Ser406Pro) c.901T>C (p.Ser301Pro) | |
6 | g.73610440A>T | CA364720970 | SLC17A5 | c.1219T>A (p.Ser407Thr) c.1168T>A (p.Ser390Thr) c.1021T>A (p.Ser341Thr) c.1111+4875T>A (n.1111+4875T>A) c.988T>A (p.Ser330Thr) c.1240T>A (p.Ser414Thr) c.1132T>A (p.Ser378Thr) c.1060T>A (p.Ser354Thr) c.1216T>A (p.Ser406Thr) c.901T>A (p.Ser301Thr) | gnomAD v4 |
6 | g.73610441G>A | CA450914556 | SLC17A5 | c.1218C>T (p.Cys406=) c.1167C>T (p.Cys389=) c.1020C>T (p.Cys340=) c.1111+4874C>T (n.1111+4874C>T) c.987C>T (p.Cys329=) c.1239C>T (p.Cys413=) c.1131C>T (p.Cys377=) c.1059C>T (p.Cys353=) c.1215C>T (p.Cys405=) c.900C>T (p.Cys300=) | |
6 | g.73610441G>C | CA364720972 | SLC17A5 | c.1218C>G (p.Cys406Trp) c.1167C>G (p.Cys389Trp) c.1020C>G (p.Cys340Trp) c.1111+4874C>G (n.1111+4874C>G) c.987C>G (p.Cys329Trp) c.1239C>G (p.Cys413Trp) c.1131C>G (p.Cys377Trp) c.1059C>G (p.Cys353Trp) c.1215C>G (p.Cys405Trp) c.900C>G (p.Cys300Trp) | |
6 | g.73610441G>T | CA364720974 | SLC17A5 | c.1218C>A (p.Cys406Ter) c.1167C>A (p.Cys389Ter) c.1020C>A (p.Cys340Ter) c.1111+4874C>A (n.1111+4874C>A) c.987C>A (p.Cys329Ter) c.1239C>A (p.Cys413Ter) c.1131C>A (p.Cys377Ter) c.1059C>A (p.Cys353Ter) c.1215C>A (p.Cys405Ter) c.900C>A (p.Cys300Ter) | |
6 | g.73610442C>A | CA364720975 | SLC17A5 | c.1217G>T (p.Cys406Phe) c.1166G>T (p.Cys389Phe) c.1019G>T (p.Cys340Phe) c.1111+4873G>T (n.1111+4873G>T) c.986G>T (p.Cys329Phe) c.1238G>T (p.Cys413Phe) c.1130G>T (p.Cys377Phe) c.1058G>T (p.Cys353Phe) c.1214G>T (p.Cys405Phe) c.899G>T (p.Cys300Phe) | |
6 | g.73610442C>G | CA364720977 | SLC17A5 | c.1217G>C (p.Cys406Ser) c.1166G>C (p.Cys389Ser) c.1019G>C (p.Cys340Ser) c.1111+4873G>C (n.1111+4873G>C) c.986G>C (p.Cys329Ser) c.1238G>C (p.Cys413Ser) c.1130G>C (p.Cys377Ser) c.1058G>C (p.Cys353Ser) c.1214G>C (p.Cys405Ser) c.899G>C (p.Cys300Ser) | |
6 | g.73610442C>T | CA364720978 | SLC17A5 | c.1217G>A (p.Cys406Tyr) c.1166G>A (p.Cys389Tyr) c.1019G>A (p.Cys340Tyr) c.1111+4873G>A (n.1111+4873G>A) c.986G>A (p.Cys329Tyr) c.1238G>A (p.Cys413Tyr) c.1130G>A (p.Cys377Tyr) c.1058G>A (p.Cys353Tyr) c.1214G>A (p.Cys405Tyr) c.899G>A (p.Cys300Tyr) | |
6 | g.73610443A>C | CA364720980 | SLC17A5 | c.1216T>G (p.Cys406Gly) c.1165T>G (p.Cys389Gly) c.1018T>G (p.Cys340Gly) c.1111+4872T>G (n.1111+4872T>G) c.985T>G (p.Cys329Gly) c.1237T>G (p.Cys413Gly) c.1129T>G (p.Cys377Gly) c.1057T>G (p.Cys353Gly) c.1213T>G (p.Cys405Gly) c.898T>G (p.Cys300Gly) | |
6 | g.73610443A>G | CA364720982 | SLC17A5 | c.1216T>C (p.Cys406Arg) c.1165T>C (p.Cys389Arg) c.1018T>C (p.Cys340Arg) c.1111+4872T>C (n.1111+4872T>C) c.985T>C (p.Cys329Arg) c.1237T>C (p.Cys413Arg) c.1129T>C (p.Cys377Arg) c.1057T>C (p.Cys353Arg) c.1213T>C (p.Cys405Arg) c.898T>C (p.Cys300Arg) | |
6 | g.73610443A>T | CA364720983 | SLC17A5 | c.1216T>A (p.Cys406Ser) c.1165T>A (p.Cys389Ser) c.1018T>A (p.Cys340Ser) c.1111+4872T>A (n.1111+4872T>A) c.985T>A (p.Cys329Ser) c.1237T>A (p.Cys413Ser) c.1129T>A (p.Cys377Ser) c.1057T>A (p.Cys353Ser) c.1213T>A (p.Cys405Ser) c.898T>A (p.Cys300Ser) | |
6 | g.73610444A>C | CA364720985 | SLC17A5 | c.1215T>G (p.Phe405Leu) c.1164T>G (p.Phe388Leu) c.1017T>G (p.Phe339Leu) c.1111+4871T>G (n.1111+4871T>G) c.984T>G (p.Phe328Leu) c.1236T>G (p.Phe412Leu) c.1128T>G (p.Phe376Leu) c.1056T>G (p.Phe352Leu) c.1212T>G (p.Phe404Leu) c.897T>G (p.Phe299Leu) | |
6 | g.73610444A>G | CA450914566 | SLC17A5 | c.1215T>C (p.Phe405=) c.1164T>C (p.Phe388=) c.1017T>C (p.Phe339=) c.1111+4871T>C (n.1111+4871T>C) c.984T>C (p.Phe328=) c.1236T>C (p.Phe412=) c.1128T>C (p.Phe376=) c.1056T>C (p.Phe352=) c.1212T>C (p.Phe404=) c.897T>C (p.Phe299=) | ClinVar dbSNP |
6 | g.73610444A>T | CA364720987 | SLC17A5 | c.1215T>A (p.Phe405Leu) c.1164T>A (p.Phe388Leu) c.1017T>A (p.Phe339Leu) c.1111+4871T>A (n.1111+4871T>A) c.984T>A (p.Phe328Leu) c.1236T>A (p.Phe412Leu) c.1128T>A (p.Phe376Leu) c.1056T>A (p.Phe352Leu) c.1212T>A (p.Phe404Leu) c.897T>A (p.Phe299Leu) | |
6 | g.73610445A>C | CA364720988 | SLC17A5 | c.1214T>G (p.Phe405Cys) c.1163T>G (p.Phe388Cys) c.1016T>G (p.Phe339Cys) c.1111+4870T>G (n.1111+4870T>G) c.983T>G (p.Phe328Cys) c.1235T>G (p.Phe412Cys) c.1127T>G (p.Phe376Cys) c.1055T>G (p.Phe352Cys) c.1211T>G (p.Phe404Cys) c.896T>G (p.Phe299Cys) | gnomAD v4 |
6 | g.73610445A>G | CA364720990 | SLC17A5 | c.1214T>C (p.Phe405Ser) c.1163T>C (p.Phe388Ser) c.1016T>C (p.Phe339Ser) c.1111+4870T>C (n.1111+4870T>C) c.983T>C (p.Phe328Ser) c.1235T>C (p.Phe412Ser) c.1127T>C (p.Phe376Ser) c.1055T>C (p.Phe352Ser) c.1211T>C (p.Phe404Ser) c.896T>C (p.Phe299Ser) | |
6 | g.73610445A>T | CA364720991 | SLC17A5 | c.1214T>A (p.Phe405Tyr) c.1163T>A (p.Phe388Tyr) c.1016T>A (p.Phe339Tyr) c.1111+4870T>A (n.1111+4870T>A) c.983T>A (p.Phe328Tyr) c.1235T>A (p.Phe412Tyr) c.1127T>A (p.Phe376Tyr) c.1055T>A (p.Phe352Tyr) c.1211T>A (p.Phe404Tyr) c.896T>A (p.Phe299Tyr) | |
6 | g.73610446A>C | CA364720996 | SLC17A5 | c.1213T>G (p.Phe405Val) c.1162T>G (p.Phe388Val) c.1015T>G (p.Phe339Val) c.1111+4869T>G (n.1111+4869T>G) c.982T>G (p.Phe328Val) c.1234T>G (p.Phe412Val) c.1126T>G (p.Phe376Val) c.1054T>G (p.Phe352Val) c.1210T>G (p.Phe404Val) c.895T>G (p.Phe299Val) | |
6 | g.73610446A>G | CA364720995 | SLC17A5 | c.1213T>C (p.Phe405Leu) c.1162T>C (p.Phe388Leu) c.1015T>C (p.Phe339Leu) c.1111+4869T>C (n.1111+4869T>C) c.982T>C (p.Phe328Leu) c.1234T>C (p.Phe412Leu) c.1126T>C (p.Phe376Leu) c.1054T>C (p.Phe352Leu) c.1210T>C (p.Phe404Leu) c.895T>C (p.Phe299Leu) | |
6 | g.73610446A>T | CA364720993 | SLC17A5 | c.1213T>A (p.Phe405Ile) c.1162T>A (p.Phe388Ile) c.1015T>A (p.Phe339Ile) c.1111+4869T>A (n.1111+4869T>A) c.982T>A (p.Phe328Ile) c.1234T>A (p.Phe412Ile) c.1126T>A (p.Phe376Ile) c.1054T>A (p.Phe352Ile) c.1210T>A (p.Phe404Ile) c.895T>A (p.Phe299Ile) | |
6 | g.73610447G>A | CA450914572 | SLC17A5 | c.1212C>T (p.Gly404=) c.1161C>T (p.Gly387=) c.1014C>T (p.Gly338=) c.1111+4868C>T (n.1111+4868C>T) c.981C>T (p.Gly327=) c.1233C>T (p.Gly411=) c.1125C>T (p.Gly375=) c.1053C>T (p.Gly351=) c.1209C>T (p.Gly403=) c.894C>T (p.Gly298=) | gnomAD v4 |
6 | g.73610447G>C | CA450914573 | SLC17A5 | c.1212C>G (p.Gly404=) c.1161C>G (p.Gly387=) c.1014C>G (p.Gly338=) c.1111+4868C>G (n.1111+4868C>G) c.981C>G (p.Gly327=) c.1233C>G (p.Gly411=) c.1125C>G (p.Gly375=) c.1053C>G (p.Gly351=) c.1209C>G (p.Gly403=) c.894C>G (p.Gly298=) | |
6 | g.73610447G>T | CA450914575 | SLC17A5 | c.1212C>A (p.Gly404=) c.1161C>A (p.Gly387=) c.1014C>A (p.Gly338=) c.1111+4868C>A (n.1111+4868C>A) c.981C>A (p.Gly327=) c.1233C>A (p.Gly411=) c.1125C>A (p.Gly375=) c.1053C>A (p.Gly351=) c.1209C>A (p.Gly403=) c.894C>A (p.Gly298=) | |
6 | g.73610448C>A | CA364720998 | SLC17A5 | c.1211G>T (p.Gly404Val) c.1160G>T (p.Gly387Val) c.1013G>T (p.Gly338Val) c.1111+4867G>T (n.1111+4867G>T) c.980G>T (p.Gly327Val) c.1232G>T (p.Gly411Val) c.1124G>T (p.Gly375Val) c.1052G>T (p.Gly351Val) c.1208G>T (p.Gly403Val) c.893G>T (p.Gly298Val) | |
6 | g.73610448C= | CA1638229752 | SLC17A5 | c.1211G= (p.Gly404=) c.1160G= (p.Gly387=) c.1013G= (p.Gly338=) c.1111+4867G= (n.1111+4867G=) c.980G= (p.Gly327=) c.1232G= (p.Gly411=) c.1124G= (p.Gly375=) c.1052G= (p.Gly351=) c.1208G= (p.Gly403=) c.893G= (p.Gly298=) | |
6 | g.73610448C>G | CA364721001 | SLC17A5 | c.1211G>C (p.Gly404Ala) c.1160G>C (p.Gly387Ala) c.1013G>C (p.Gly338Ala) c.1111+4867G>C (n.1111+4867G>C) c.980G>C (p.Gly327Ala) c.1232G>C (p.Gly411Ala) c.1124G>C (p.Gly375Ala) c.1052G>C (p.Gly351Ala) c.1208G>C (p.Gly403Ala) c.893G>C (p.Gly298Ala) | |
6 | g.73610448C>T | CA364721000 | SLC17A5 | c.1211G>A (p.Gly404Asp) c.1160G>A (p.Gly387Asp) c.1013G>A (p.Gly338Asp) c.1111+4867G>A (n.1111+4867G>A) c.980G>A (p.Gly327Asp) c.1232G>A (p.Gly411Asp) c.1124G>A (p.Gly375Asp) c.1052G>A (p.Gly351Asp) c.1208G>A (p.Gly403Asp) c.893G>A (p.Gly298Asp) | dbSNP gnomAD v4 |
6 | g.73610449C>A | CA364721003 | SLC17A5 | c.1210G>T (p.Gly404Cys) c.1159G>T (p.Gly387Cys) c.1012G>T (p.Gly338Cys) c.1111+4866G>T (n.1111+4866G>T) c.979G>T (p.Gly327Cys) c.1231G>T (p.Gly411Cys) c.1123G>T (p.Gly375Cys) c.1051G>T (p.Gly351Cys) c.1207G>T (p.Gly403Cys) c.892G>T (p.Gly298Cys) | COSMIC |
6 | g.73610449C= | CA1638229753 | SLC17A5 | c.1210G= (p.Gly404=) c.1159G= (p.Gly387=) c.1012G= (p.Gly338=) c.1111+4866G= (n.1111+4866G=) c.979G= (p.Gly327=) c.1231G= (p.Gly411=) c.1123G= (p.Gly375=) c.1051G= (p.Gly351=) c.1207G= (p.Gly403=) c.892G= (p.Gly298=) | |
6 | g.73610449C>G | CA3890323 | SLC17A5 | c.1210G>C (p.Gly404Arg) c.1159G>C (p.Gly387Arg) c.1012G>C (p.Gly338Arg) c.1111+4866G>C (n.1111+4866G>C) c.979G>C (p.Gly327Arg) c.1231G>C (p.Gly411Arg) c.1123G>C (p.Gly375Arg) c.1051G>C (p.Gly351Arg) c.1207G>C (p.Gly403Arg) c.892G>C (p.Gly298Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73610449C>T | CA364721004 | SLC17A5 | c.1210G>A (p.Gly404Ser) c.1159G>A (p.Gly387Ser) c.1012G>A (p.Gly338Ser) c.1111+4866G>A (n.1111+4866G>A) c.979G>A (p.Gly327Ser) c.1231G>A (p.Gly411Ser) c.1123G>A (p.Gly375Ser) c.1051G>A (p.Gly351Ser) c.1207G>A (p.Gly403Ser) c.892G>A (p.Gly298Ser) | |
6 | g.73610450_73610451del | CA913111551 | SLC17A5 | c.1209_1210del (p.Gly404LeufsTer7) c.1158_1159del (p.Gly387LeufsTer7) c.1011_1012del (p.Gly338LeufsTer7) c.1111+4865_1111+4866del (n.1111+4865_1111+4866del) c.978_979del (p.Gly327LeufsTer7) c.1230_1231del (p.Gly411LeufsTer7) c.1122_1123del (p.Gly375LeufsTer7) c.1050_1051del (p.Gly351LeufsTer7) c.1206_1207del (p.Gly403LeufsTer7) c.891_892del (p.Gly298LeufsTer7) | |
6 | g.73610450T>A | CA450914582 | SLC17A5 | c.1209A>T (p.Gly403=) c.1158A>T (p.Gly386=) c.1011A>T (p.Gly337=) c.1111+4865A>T (n.1111+4865A>T) c.978A>T (p.Gly326=) c.1230A>T (p.Gly410=) c.1122A>T (p.Gly374=) c.1050A>T (p.Gly350=) c.1206A>T (p.Gly402=) c.891A>T (p.Gly297=) | |
6 | g.73610450T>C | CA450914583 | SLC17A5 | c.1209A>G (p.Gly403=) c.1158A>G (p.Gly386=) c.1011A>G (p.Gly337=) c.1111+4865A>G (n.1111+4865A>G) c.978A>G (p.Gly326=) c.1230A>G (p.Gly410=) c.1122A>G (p.Gly374=) c.1050A>G (p.Gly350=) c.1206A>G (p.Gly402=) c.891A>G (p.Gly297=) | |
6 | g.73610450T>G | CA450914585 | SLC17A5 | c.1209A>C (p.Gly403=) c.1158A>C (p.Gly386=) c.1011A>C (p.Gly337=) c.1111+4865A>C (n.1111+4865A>C) c.978A>C (p.Gly326=) c.1230A>C (p.Gly410=) c.1122A>C (p.Gly374=) c.1050A>C (p.Gly350=) c.1206A>C (p.Gly402=) c.891A>C (p.Gly297=) | |
6 | g.73610450_73610451delinsTC | CA1638229754 | SLC17A5 | c.1208_1209delinsGA (p.Gly403=) c.1157_1158delinsGA (p.Gly386=) c.1010_1011delinsGA (p.Gly337=) c.1111+4864_1111+4865delinsGA (n.1111+4864_1111+4865delinsGA) c.977_978delinsGA (p.Gly326=) c.1229_1230delinsGA (p.Gly410=) c.1121_1122delinsGA (p.Gly374=) c.1049_1050delinsGA (p.Gly350=) c.1205_1206delinsGA (p.Gly402=) c.890_891delinsGA (p.Gly297=) | |
6 | g.73610451C>A | CA364721007 | SLC17A5 | c.1208G>T (p.Gly403Val) c.1157G>T (p.Gly386Val) c.1010G>T (p.Gly337Val) c.1111+4864G>T (n.1111+4864G>T) c.977G>T (p.Gly326Val) c.1229G>T (p.Gly410Val) c.1121G>T (p.Gly374Val) c.1049G>T (p.Gly350Val) c.1205G>T (p.Gly402Val) c.890G>T (p.Gly297Val) | |
6 | g.73610451C>G | CA364721010 | SLC17A5 | c.1208G>C (p.Gly403Ala) c.1157G>C (p.Gly386Ala) c.1010G>C (p.Gly337Ala) c.1111+4864G>C (n.1111+4864G>C) c.977G>C (p.Gly326Ala) c.1229G>C (p.Gly410Ala) c.1121G>C (p.Gly374Ala) c.1049G>C (p.Gly350Ala) c.1205G>C (p.Gly402Ala) c.890G>C (p.Gly297Ala) | |
6 | g.73610451C>T | CA364721009 | SLC17A5 | c.1208G>A (p.Gly403Glu) c.1157G>A (p.Gly386Glu) c.1010G>A (p.Gly337Glu) c.1111+4864G>A (n.1111+4864G>A) c.977G>A (p.Gly326Glu) c.1229G>A (p.Gly410Glu) c.1121G>A (p.Gly374Glu) c.1049G>A (p.Gly350Glu) c.1205G>A (p.Gly402Glu) c.890G>A (p.Gly297Glu) | |
6 | g.73610453del | CA658821771 | SLC17A5 | c.1208del (p.Gly403GlufsTer?) c.1157del (p.Gly386GlufsTer?) c.1010del (p.Gly337GlufsTer?) c.1111+4864del (n.1111+4864del) c.977del (p.Gly326GlufsTer?) c.1229del (p.Gly410GlufsTer?) c.1121del (p.Gly374GlufsTer?) c.1049del (p.Gly350GlufsTer?) c.1205del (p.Gly402GlufsTer?) c.890del (p.Gly297GlufsTer?) | ClinVar dbSNP |
6 | g.73610452C>A | CA364721011 | SLC17A5 | c.1207G>T (p.Gly403Ter) c.1156G>T (p.Gly386Ter) c.1009G>T (p.Gly337Ter) c.1111+4863G>T (n.1111+4863G>T) c.976G>T (p.Gly326Ter) c.1228G>T (p.Gly410Ter) c.1120G>T (p.Gly374Ter) c.1048G>T (p.Gly350Ter) c.1204G>T (p.Gly402Ter) c.889G>T (p.Gly297Ter) | |
6 | g.73610452C= | CA1638229755 | SLC17A5 | c.1207G= (p.Gly403=) c.1156G= (p.Gly386=) c.1009G= (p.Gly337=) c.1111+4863G= (n.1111+4863G=) c.976G= (p.Gly326=) c.1228G= (p.Gly410=) c.1120G= (p.Gly374=) c.1048G= (p.Gly350=) c.1204G= (p.Gly402=) c.889G= (p.Gly297=) | |
6 | g.73610452C>G | CA364721014 | SLC17A5 | c.1207G>C (p.Gly403Arg) c.1156G>C (p.Gly386Arg) c.1009G>C (p.Gly337Arg) c.1111+4863G>C (n.1111+4863G>C) c.976G>C (p.Gly326Arg) c.1228G>C (p.Gly410Arg) c.1120G>C (p.Gly374Arg) c.1048G>C (p.Gly350Arg) c.1204G>C (p.Gly402Arg) c.889G>C (p.Gly297Arg) | |
6 | g.73610452C>T | CA140979026 | SLC17A5 | c.1207G>A (p.Gly403Arg) c.1156G>A (p.Gly386Arg) c.1009G>A (p.Gly337Arg) c.1111+4863G>A (n.1111+4863G>A) c.976G>A (p.Gly326Arg) c.1228G>A (p.Gly410Arg) c.1120G>A (p.Gly374Arg) c.1048G>A (p.Gly350Arg) c.1204G>A (p.Gly402Arg) c.889G>A (p.Gly297Arg) | dbSNP |
6 | g.73610453C>A | CA450914590 | SLC17A5 | c.1206G>T (p.Leu402=) c.1155G>T (p.Leu385=) c.1008G>T (p.Leu336=) c.1111+4862G>T (n.1111+4862G>T) c.975G>T (p.Leu325=) c.1227G>T (p.Leu409=) c.1119G>T (p.Leu373=) c.1047G>T (p.Leu349=) c.1203G>T (p.Leu401=) c.888G>T (p.Leu296=) | |
6 | g.73610453C>G | CA450914591 | SLC17A5 | c.1206G>C (p.Leu402=) c.1155G>C (p.Leu385=) c.1008G>C (p.Leu336=) c.1111+4862G>C (n.1111+4862G>C) c.975G>C (p.Leu325=) c.1227G>C (p.Leu409=) c.1119G>C (p.Leu373=) c.1047G>C (p.Leu349=) c.1203G>C (p.Leu401=) c.888G>C (p.Leu296=) | |
6 | g.73610453C>T | CA450914594 | SLC17A5 | c.1206G>A (p.Leu402=) c.1155G>A (p.Leu385=) c.1008G>A (p.Leu336=) c.1111+4862G>A (n.1111+4862G>A) c.975G>A (p.Leu325=) c.1227G>A (p.Leu409=) c.1119G>A (p.Leu373=) c.1047G>A (p.Leu349=) c.1203G>A (p.Leu401=) c.888G>A (p.Leu296=) | |
6 | g.73610454A>C | CA364721016 | SLC17A5 | c.1205T>G (p.Leu402Arg) c.1154T>G (p.Leu385Arg) c.1007T>G (p.Leu336Arg) c.1111+4861T>G (n.1111+4861T>G) c.974T>G (p.Leu325Arg) c.1226T>G (p.Leu409Arg) c.1118T>G (p.Leu373Arg) c.1046T>G (p.Leu349Arg) c.1202T>G (p.Leu401Arg) c.887T>G (p.Leu296Arg) | |
6 | g.73610454A>G | CA364721017 | SLC17A5 | c.1205T>C (p.Leu402Pro) c.1154T>C (p.Leu385Pro) c.1007T>C (p.Leu336Pro) c.1111+4861T>C (n.1111+4861T>C) c.974T>C (p.Leu325Pro) c.1226T>C (p.Leu409Pro) c.1118T>C (p.Leu373Pro) c.1046T>C (p.Leu349Pro) c.1202T>C (p.Leu401Pro) c.887T>C (p.Leu296Pro) | gnomAD v4 |
6 | g.73610454A>T | CA364721018 | SLC17A5 | c.1205T>A (p.Leu402Gln) c.1154T>A (p.Leu385Gln) c.1007T>A (p.Leu336Gln) c.1111+4861T>A (n.1111+4861T>A) c.974T>A (p.Leu325Gln) c.1226T>A (p.Leu409Gln) c.1118T>A (p.Leu373Gln) c.1046T>A (p.Leu349Gln) c.1202T>A (p.Leu401Gln) c.887T>A (p.Leu296Gln) | |
6 | g.73610455G>A | CA450914598 | SLC17A5 | c.1204C>T (p.Leu402=) c.1153C>T (p.Leu385=) c.1006C>T (p.Leu336=) c.1111+4860C>T (n.1111+4860C>T) c.973C>T (p.Leu325=) c.1225C>T (p.Leu409=) c.1117C>T (p.Leu373=) c.1045C>T (p.Leu349=) c.1201C>T (p.Leu401=) c.886C>T (p.Leu296=) | dbSNP |
6 | g.73610455G>C | CA364721019 | SLC17A5 | c.1204C>G (p.Leu402Val) c.1153C>G (p.Leu385Val) c.1006C>G (p.Leu336Val) c.1111+4860C>G (n.1111+4860C>G) c.973C>G (p.Leu325Val) c.1225C>G (p.Leu409Val) c.1117C>G (p.Leu373Val) c.1045C>G (p.Leu349Val) c.1201C>G (p.Leu401Val) c.886C>G (p.Leu296Val) | gnomAD v4 |
6 | g.73610455G>T | CA364721020 | SLC17A5 | c.1204C>A (p.Leu402Met) c.1153C>A (p.Leu385Met) c.1006C>A (p.Leu336Met) c.1111+4860C>A (n.1111+4860C>A) c.973C>A (p.Leu325Met) c.1225C>A (p.Leu409Met) c.1117C>A (p.Leu373Met) c.1045C>A (p.Leu349Met) c.1201C>A (p.Leu401Met) c.886C>A (p.Leu296Met) | |
6 | g.73610456T>A | CA450914602 | SLC17A5 | c.1203A>T (p.Thr401=) c.1152A>T (p.Thr384=) c.1005A>T (p.Thr335=) c.1111+4859A>T (n.1111+4859A>T) c.972A>T (p.Thr324=) c.1224A>T (p.Thr408=) c.1116A>T (p.Thr372=) c.1044A>T (p.Thr348=) c.1200A>T (p.Thr400=) c.885A>T (p.Thr295=) | |
6 | g.73610456T>C | CA450914603 | SLC17A5 | c.1203A>G (p.Thr401=) c.1152A>G (p.Thr384=) c.1005A>G (p.Thr335=) c.1111+4859A>G (n.1111+4859A>G) c.972A>G (p.Thr324=) c.1224A>G (p.Thr408=) c.1116A>G (p.Thr372=) c.1044A>G (p.Thr348=) c.1200A>G (p.Thr400=) c.885A>G (p.Thr295=) | gnomAD v4 |
6 | g.73610456T>G | CA450914605 | SLC17A5 | c.1203A>C (p.Thr401=) c.1152A>C (p.Thr384=) c.1005A>C (p.Thr335=) c.1111+4859A>C (n.1111+4859A>C) c.972A>C (p.Thr324=) c.1224A>C (p.Thr408=) c.1116A>C (p.Thr372=) c.1044A>C (p.Thr348=) c.1200A>C (p.Thr400=) c.885A>C (p.Thr295=) | |
6 | g.73610457G>A | CA364721023 | SLC17A5 | c.1202C>T (p.Thr401Ile) c.1151C>T (p.Thr384Ile) c.1004C>T (p.Thr335Ile) c.1111+4858C>T (n.1111+4858C>T) c.971C>T (p.Thr324Ile) c.1223C>T (p.Thr408Ile) c.1115C>T (p.Thr372Ile) c.1043C>T (p.Thr348Ile) c.1199C>T (p.Thr400Ile) c.884C>T (p.Thr295Ile) | ClinVar |
6 | g.73610457G>C | CA364721022 | SLC17A5 | c.1202C>G (p.Thr401Arg) c.1151C>G (p.Thr384Arg) c.1004C>G (p.Thr335Arg) c.1111+4858C>G (n.1111+4858C>G) c.971C>G (p.Thr324Arg) c.1223C>G (p.Thr408Arg) c.1115C>G (p.Thr372Arg) c.1043C>G (p.Thr348Arg) c.1199C>G (p.Thr400Arg) c.884C>G (p.Thr295Arg) | |
6 | g.73610457G>T | CA364721021 | SLC17A5 | c.1202C>A (p.Thr401Lys) c.1151C>A (p.Thr384Lys) c.1004C>A (p.Thr335Lys) c.1111+4858C>A (n.1111+4858C>A) c.971C>A (p.Thr324Lys) c.1223C>A (p.Thr408Lys) c.1115C>A (p.Thr372Lys) c.1043C>A (p.Thr348Lys) c.1199C>A (p.Thr400Lys) c.884C>A (p.Thr295Lys) | |
6 | g.73610458T>A | CA364721024 | SLC17A5 | c.1201A>T (p.Thr401Ser) c.1150A>T (p.Thr384Ser) c.1003A>T (p.Thr335Ser) c.1111+4857A>T (n.1111+4857A>T) c.970A>T (p.Thr324Ser) c.1222A>T (p.Thr408Ser) c.1114A>T (p.Thr372Ser) c.1042A>T (p.Thr348Ser) c.1198A>T (p.Thr400Ser) c.883A>T (p.Thr295Ser) | |
6 | g.73610458T>C | CA364721025 | SLC17A5 | c.1201A>G (p.Thr401Ala) c.1150A>G (p.Thr384Ala) c.1003A>G (p.Thr335Ala) c.1111+4857A>G (n.1111+4857A>G) c.970A>G (p.Thr324Ala) c.1222A>G (p.Thr408Ala) c.1114A>G (p.Thr372Ala) c.1042A>G (p.Thr348Ala) c.1198A>G (p.Thr400Ala) c.883A>G (p.Thr295Ala) | ClinVar |
6 | g.73610458T>G | CA364721026 | SLC17A5 | c.1201A>C (p.Thr401Pro) c.1150A>C (p.Thr384Pro) c.1003A>C (p.Thr335Pro) c.1111+4857A>C (n.1111+4857A>C) c.970A>C (p.Thr324Pro) c.1222A>C (p.Thr408Pro) c.1114A>C (p.Thr372Pro) c.1042A>C (p.Thr348Pro) c.1198A>C (p.Thr400Pro) c.883A>C (p.Thr295Pro) | |
6 | g.73610459T>A | CA450914613 | SLC17A5 | c.1200A>T (p.Thr400=) c.1149A>T (p.Thr383=) c.1002A>T (p.Thr334=) c.1111+4856A>T (n.1111+4856A>T) c.969A>T (p.Thr323=) c.1221A>T (p.Thr407=) c.1113A>T (p.Thr371=) c.1041A>T (p.Thr347=) c.1197A>T (p.Thr399=) c.882A>T (p.Thr294=) | |
6 | g.73610459T>C | CA450914615 | SLC17A5 | c.1200A>G (p.Thr400=) c.1149A>G (p.Thr383=) c.1002A>G (p.Thr334=) c.1111+4856A>G (n.1111+4856A>G) c.969A>G (p.Thr323=) c.1221A>G (p.Thr407=) c.1113A>G (p.Thr371=) c.1041A>G (p.Thr347=) c.1197A>G (p.Thr399=) c.882A>G (p.Thr294=) | |
6 | g.73610459T>G | CA450914612 | SLC17A5 | c.1200A>C (p.Thr400=) c.1149A>C (p.Thr383=) c.1002A>C (p.Thr334=) c.1111+4856A>C (n.1111+4856A>C) c.969A>C (p.Thr323=) c.1221A>C (p.Thr407=) c.1113A>C (p.Thr371=) c.1041A>C (p.Thr347=) c.1197A>C (p.Thr399=) c.882A>C (p.Thr294=) | |
6 | g.73610460G>A | CA364721027 | SLC17A5 | c.1199C>T (p.Thr400Ile) c.1148C>T (p.Thr383Ile) c.1001C>T (p.Thr334Ile) c.1111+4855C>T (n.1111+4855C>T) c.968C>T (p.Thr323Ile) c.1220C>T (p.Thr407Ile) c.1112C>T (p.Thr371Ile) c.1040C>T (p.Thr347Ile) c.1196C>T (p.Thr399Ile) c.881C>T (p.Thr294Ile) | gnomAD v4 |
6 | g.73610460G>C | CA364721028 | SLC17A5 | c.1199C>G (p.Thr400Arg) c.1148C>G (p.Thr383Arg) c.1001C>G (p.Thr334Arg) c.1111+4855C>G (n.1111+4855C>G) c.968C>G (p.Thr323Arg) c.1220C>G (p.Thr407Arg) c.1112C>G (p.Thr371Arg) c.1040C>G (p.Thr347Arg) c.1196C>G (p.Thr399Arg) c.881C>G (p.Thr294Arg) | |
6 | g.73610460G>T | CA364721029 | SLC17A5 | c.1199C>A (p.Thr400Lys) c.1148C>A (p.Thr383Lys) c.1001C>A (p.Thr334Lys) c.1111+4855C>A (n.1111+4855C>A) c.968C>A (p.Thr323Lys) c.1220C>A (p.Thr407Lys) c.1112C>A (p.Thr371Lys) c.1040C>A (p.Thr347Lys) c.1196C>A (p.Thr399Lys) c.881C>A (p.Thr294Lys) | |
6 | g.73610461T>A | CA364721030 | SLC17A5 | c.1198A>T (p.Thr400Ser) c.1147A>T (p.Thr383Ser) c.1000A>T (p.Thr334Ser) c.1111+4854A>T (n.1111+4854A>T) c.967A>T (p.Thr323Ser) c.1219A>T (p.Thr407Ser) c.1111A>T (p.Thr371Ser) c.1039A>T (p.Thr347Ser) c.1195A>T (p.Thr399Ser) c.880A>T (p.Thr294Ser) | |
6 | g.73610461T>C | CA364721032 | SLC17A5 | c.1198A>G (p.Thr400Ala) c.1147A>G (p.Thr383Ala) c.1000A>G (p.Thr334Ala) c.1111+4854A>G (n.1111+4854A>G) c.967A>G (p.Thr323Ala) c.1219A>G (p.Thr407Ala) c.1111A>G (p.Thr371Ala) c.1039A>G (p.Thr347Ala) c.1195A>G (p.Thr399Ala) c.880A>G (p.Thr294Ala) | |
6 | g.73610461T>G | CA364721031 | SLC17A5 | c.1198A>C (p.Thr400Pro) c.1147A>C (p.Thr383Pro) c.1000A>C (p.Thr334Pro) c.1111+4854A>C (n.1111+4854A>C) c.967A>C (p.Thr323Pro) c.1219A>C (p.Thr407Pro) c.1111A>C (p.Thr371Pro) c.1039A>C (p.Thr347Pro) c.1195A>C (p.Thr399Pro) c.880A>C (p.Thr294Pro) | |
6 | g.73610462T>A | CA450914624 | SLC17A5 | c.1197A>T (p.Ser399=) c.1146A>T (p.Ser382=) c.999A>T (p.Ser333=) c.1111+4853A>T (n.1111+4853A>T) c.966A>T (p.Ser322=) c.1218A>T (p.Ser406=) c.1110A>T (p.Ser370=) c.1038A>T (p.Ser346=) c.1194A>T (p.Ser398=) c.879A>T (p.Ser293=) | |
6 | g.73610462T>C | CA450914620 | SLC17A5 | c.1197A>G (p.Ser399=) c.1146A>G (p.Ser382=) c.999A>G (p.Ser333=) c.1111+4853A>G (n.1111+4853A>G) c.966A>G (p.Ser322=) c.1218A>G (p.Ser406=) c.1110A>G (p.Ser370=) c.1038A>G (p.Ser346=) c.1194A>G (p.Ser398=) c.879A>G (p.Ser293=) | |
6 | g.73610462T>G | CA450914622 | SLC17A5 | c.1197A>C (p.Ser399=) c.1146A>C (p.Ser382=) c.999A>C (p.Ser333=) c.1111+4853A>C (n.1111+4853A>C) c.966A>C (p.Ser322=) c.1218A>C (p.Ser406=) c.1110A>C (p.Ser370=) c.1038A>C (p.Ser346=) c.1194A>C (p.Ser398=) c.879A>C (p.Ser293=) | ClinVar |
6 | g.73610463G>A | CA364721033 | SLC17A5 | c.1196C>T (p.Ser399Leu) c.1145C>T (p.Ser382Leu) c.998C>T (p.Ser333Leu) c.1111+4852C>T (n.1111+4852C>T) c.965C>T (p.Ser322Leu) c.1217C>T (p.Ser406Leu) c.1109C>T (p.Ser370Leu) c.1037C>T (p.Ser346Leu) c.1193C>T (p.Ser398Leu) c.878C>T (p.Ser293Leu) | gnomAD v4 |
6 | g.73610463G>C | CA364721034 | SLC17A5 | c.1196C>G (p.Ser399Ter) c.1145C>G (p.Ser382Ter) c.998C>G (p.Ser333Ter) c.1111+4852C>G (n.1111+4852C>G) c.965C>G (p.Ser322Ter) c.1217C>G (p.Ser406Ter) c.1109C>G (p.Ser370Ter) c.1037C>G (p.Ser346Ter) c.1193C>G (p.Ser398Ter) c.878C>G (p.Ser293Ter) | |
6 | g.73610463G>T | CA364721035 | SLC17A5 | c.1196C>A (p.Ser399Ter) c.1145C>A (p.Ser382Ter) c.998C>A (p.Ser333Ter) c.1111+4852C>A (n.1111+4852C>A) c.965C>A (p.Ser322Ter) c.1217C>A (p.Ser406Ter) c.1109C>A (p.Ser370Ter) c.1037C>A (p.Ser346Ter) c.1193C>A (p.Ser398Ter) c.878C>A (p.Ser293Ter) | |
6 | g.73610464A>C | CA364721036 | SLC17A5 | c.1195T>G (p.Ser399Ala) c.1144T>G (p.Ser382Ala) c.997T>G (p.Ser333Ala) c.1111+4851T>G (n.1111+4851T>G) c.964T>G (p.Ser322Ala) c.1216T>G (p.Ser406Ala) c.1108T>G (p.Ser370Ala) c.1036T>G (p.Ser346Ala) c.1192T>G (p.Ser398Ala) c.877T>G (p.Ser293Ala) | |
6 | g.73610464A>G | CA364721037 | SLC17A5 | c.1195T>C (p.Ser399Pro) c.1144T>C (p.Ser382Pro) c.997T>C (p.Ser333Pro) c.1111+4851T>C (n.1111+4851T>C) c.964T>C (p.Ser322Pro) c.1216T>C (p.Ser406Pro) c.1108T>C (p.Ser370Pro) c.1036T>C (p.Ser346Pro) c.1192T>C (p.Ser398Pro) c.877T>C (p.Ser293Pro) | |
6 | g.73610464A>T | CA364721038 | SLC17A5 | c.1195T>A (p.Ser399Thr) c.1144T>A (p.Ser382Thr) c.997T>A (p.Ser333Thr) c.1111+4851T>A (n.1111+4851T>A) c.964T>A (p.Ser322Thr) c.1216T>A (p.Ser406Thr) c.1108T>A (p.Ser370Thr) c.1036T>A (p.Ser346Thr) c.1192T>A (p.Ser398Thr) c.877T>A (p.Ser293Thr) | |
6 | g.73610465T>A | CA450914630 | SLC17A5 | c.1194A>T (p.Ile398=) c.1143A>T (p.Ile381=) c.996A>T (p.Ile332=) c.1111+4850A>T (n.1111+4850A>T) c.963A>T (p.Ile321=) c.1215A>T (p.Ile405=) c.1107A>T (p.Ile369=) c.1035A>T (p.Ile345=) c.1191A>T (p.Ile397=) c.876A>T (p.Ile292=) | |
6 | g.73610465T>C | CA364721039 | SLC17A5 | c.1194A>G (p.Ile398Met) c.1143A>G (p.Ile381Met) c.996A>G (p.Ile332Met) c.1111+4850A>G (n.1111+4850A>G) c.963A>G (p.Ile321Met) c.1215A>G (p.Ile405Met) c.1107A>G (p.Ile369Met) c.1035A>G (p.Ile345Met) c.1191A>G (p.Ile397Met) c.876A>G (p.Ile292Met) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73610465T>G | CA450914632 | SLC17A5 | c.1194A>C (p.Ile398=) c.1143A>C (p.Ile381=) c.996A>C (p.Ile332=) c.1111+4850A>C (n.1111+4850A>C) c.963A>C (p.Ile321=) c.1215A>C (p.Ile405=) c.1107A>C (p.Ile369=) c.1035A>C (p.Ile345=) c.1191A>C (p.Ile397=) c.876A>C (p.Ile292=) | |
6 | g.73610466A>C | CA364721040 | SLC17A5 | c.1193T>G (p.Ile398Arg) c.1142T>G (p.Ile381Arg) c.995T>G (p.Ile332Arg) c.1111+4849T>G (n.1111+4849T>G) c.962T>G (p.Ile321Arg) c.1214T>G (p.Ile405Arg) c.1106T>G (p.Ile369Arg) c.1034T>G (p.Ile345Arg) c.1190T>G (p.Ile397Arg) c.875T>G (p.Ile292Arg) | |
6 | g.73610466A>G | CA364721041 | SLC17A5 | c.1193T>C (p.Ile398Thr) c.1142T>C (p.Ile381Thr) c.995T>C (p.Ile332Thr) c.1111+4849T>C (n.1111+4849T>C) c.962T>C (p.Ile321Thr) c.1214T>C (p.Ile405Thr) c.1106T>C (p.Ile369Thr) c.1034T>C (p.Ile345Thr) c.1190T>C (p.Ile397Thr) c.875T>C (p.Ile292Thr) | |
6 | g.73610466A>T | CA364721042 | SLC17A5 | c.1193T>A (p.Ile398Lys) c.1142T>A (p.Ile381Lys) c.995T>A (p.Ile332Lys) c.1111+4849T>A (n.1111+4849T>A) c.962T>A (p.Ile321Lys) c.1214T>A (p.Ile405Lys) c.1106T>A (p.Ile369Lys) c.1034T>A (p.Ile345Lys) c.1190T>A (p.Ile397Lys) c.875T>A (p.Ile292Lys) | |
6 | g.73610467T>A | CA364721043 | SLC17A5 | c.1192A>T (p.Ile398Leu) c.1141A>T (p.Ile381Leu) c.994A>T (p.Ile332Leu) c.1111+4848A>T (n.1111+4848A>T) c.961A>T (p.Ile321Leu) c.1213A>T (p.Ile405Leu) c.1105A>T (p.Ile369Leu) c.1033A>T (p.Ile345Leu) c.1189A>T (p.Ile397Leu) c.874A>T (p.Ile292Leu) | |
6 | g.73610467T>C | CA3890324 | SLC17A5 | c.1192A>G (p.Ile398Val) c.1141A>G (p.Ile381Val) c.994A>G (p.Ile332Val) c.1111+4848A>G (n.1111+4848A>G) c.961A>G (p.Ile321Val) c.1213A>G (p.Ile405Val) c.1105A>G (p.Ile369Val) c.1033A>G (p.Ile345Val) c.1189A>G (p.Ile397Val) c.874A>G (p.Ile292Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73610467T>G | CA364721044 | SLC17A5 | c.1192A>C (p.Ile398Leu) c.1141A>C (p.Ile381Leu) c.994A>C (p.Ile332Leu) c.1111+4848A>C (n.1111+4848A>C) c.961A>C (p.Ile321Leu) c.1213A>C (p.Ile405Leu) c.1105A>C (p.Ile369Leu) c.1033A>C (p.Ile345Leu) c.1189A>C (p.Ile397Leu) c.874A>C (p.Ile292Leu) | |
6 | g.73610467T= | CA1638229756 | SLC17A5 | c.1192A= (p.Ile398=) c.1141A= (p.Ile381=) c.994A= (p.Ile332=) c.1111+4848A= (n.1111+4848A=) c.961A= (p.Ile321=) c.1213A= (p.Ile405=) c.1105A= (p.Ile369=) c.1033A= (p.Ile345=) c.1189A= (p.Ile397=) c.874A= (p.Ile292=) | |
6 | g.73610468A= | CA1638229757 | SLC17A5 | c.1191T= (p.Thr397=) c.1140T= (p.Thr380=) c.993T= (p.Thr331=) c.1111+4847T= (n.1111+4847T=) c.960T= (p.Thr320=) c.1212T= (p.Thr404=) c.1104T= (p.Thr368=) c.1032T= (p.Thr344=) c.1188T= (p.Thr396=) c.873T= (p.Thr291=) | |
6 | g.73610468A>C | CA450914642 | SLC17A5 | c.1191T>G (p.Thr397=) c.1140T>G (p.Thr380=) c.993T>G (p.Thr331=) c.1111+4847T>G (n.1111+4847T>G) c.960T>G (p.Thr320=) c.1212T>G (p.Thr404=) c.1104T>G (p.Thr368=) c.1032T>G (p.Thr344=) c.1188T>G (p.Thr396=) c.873T>G (p.Thr291=) | |
6 | g.73610468A>G | CA450914643 | SLC17A5 | c.1191T>C (p.Thr397=) c.1140T>C (p.Thr380=) c.993T>C (p.Thr331=) c.1111+4847T>C (n.1111+4847T>C) c.960T>C (p.Thr320=) c.1212T>C (p.Thr404=) c.1104T>C (p.Thr368=) c.1032T>C (p.Thr344=) c.1188T>C (p.Thr396=) c.873T>C (p.Thr291=) | |
6 | g.73610468A>T | CA450914644 | SLC17A5 | c.1191T>A (p.Thr397=) c.1140T>A (p.Thr380=) c.993T>A (p.Thr331=) c.1111+4847T>A (n.1111+4847T>A) c.960T>A (p.Thr320=) c.1212T>A (p.Thr404=) c.1104T>A (p.Thr368=) c.1032T>A (p.Thr344=) c.1188T>A (p.Thr396=) c.873T>A (p.Thr291=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73610469G>A | CA364721045 | SLC17A5 | c.1190C>T (p.Thr397Ile) c.1139C>T (p.Thr380Ile) c.992C>T (p.Thr331Ile) c.1111+4846C>T (n.1111+4846C>T) c.959C>T (p.Thr320Ile) c.1211C>T (p.Thr404Ile) c.1103C>T (p.Thr368Ile) c.1031C>T (p.Thr344Ile) c.1187C>T (p.Thr396Ile) c.872C>T (p.Thr291Ile) | |
6 | g.73610469G>C | CA364721046 | SLC17A5 | c.1190C>G (p.Thr397Ser) c.1139C>G (p.Thr380Ser) c.992C>G (p.Thr331Ser) c.1111+4846C>G (n.1111+4846C>G) c.959C>G (p.Thr320Ser) c.1211C>G (p.Thr404Ser) c.1103C>G (p.Thr368Ser) c.1031C>G (p.Thr344Ser) c.1187C>G (p.Thr396Ser) c.872C>G (p.Thr291Ser) | |
6 | g.73610469G>T | CA364721047 | SLC17A5 | c.1190C>A (p.Thr397Asn) c.1139C>A (p.Thr380Asn) c.992C>A (p.Thr331Asn) c.1111+4846C>A (n.1111+4846C>A) c.959C>A (p.Thr320Asn) c.1211C>A (p.Thr404Asn) c.1103C>A (p.Thr368Asn) c.1031C>A (p.Thr344Asn) c.1187C>A (p.Thr396Asn) c.872C>A (p.Thr291Asn) | |
6 | g.73610470T>A | CA364721048 | SLC17A5 | c.1189A>T (p.Thr397Ser) c.1138A>T (p.Thr380Ser) c.991A>T (p.Thr331Ser) c.1111+4845A>T (n.1111+4845A>T) c.958A>T (p.Thr320Ser) c.1210A>T (p.Thr404Ser) c.1102A>T (p.Thr368Ser) c.1030A>T (p.Thr344Ser) c.1186A>T (p.Thr396Ser) c.871A>T (p.Thr291Ser) | |
6 | g.73610470T>C | CA364721049 | SLC17A5 | c.1189A>G (p.Thr397Ala) c.1138A>G (p.Thr380Ala) c.991A>G (p.Thr331Ala) c.1111+4845A>G (n.1111+4845A>G) c.958A>G (p.Thr320Ala) c.1210A>G (p.Thr404Ala) c.1102A>G (p.Thr368Ala) c.1030A>G (p.Thr344Ala) c.1186A>G (p.Thr396Ala) c.871A>G (p.Thr291Ala) | |
6 | g.73610470T>G | CA364721050 | SLC17A5 | c.1189A>C (p.Thr397Pro) c.1138A>C (p.Thr380Pro) c.991A>C (p.Thr331Pro) c.1111+4845A>C (n.1111+4845A>C) c.958A>C (p.Thr320Pro) c.1210A>C (p.Thr404Pro) c.1102A>C (p.Thr368Pro) c.1030A>C (p.Thr344Pro) c.1186A>C (p.Thr396Pro) c.871A>C (p.Thr291Pro) | |
6 | g.73610471T>A | CA450914649 | SLC17A5 | c.1188A>T (p.Leu396=) c.1137A>T (p.Leu379=) c.990A>T (p.Leu330=) c.1111+4844A>T (n.1111+4844A>T) c.957A>T (p.Leu319=) c.1209A>T (p.Leu403=) c.1101A>T (p.Leu367=) c.1029A>T (p.Leu343=) c.1185A>T (p.Leu395=) c.870A>T (p.Leu290=) | |
6 | g.73610471T>C | CA450914652 | SLC17A5 | c.1188A>G (p.Leu396=) c.1137A>G (p.Leu379=) c.990A>G (p.Leu330=) c.1111+4844A>G (n.1111+4844A>G) c.957A>G (p.Leu319=) c.1209A>G (p.Leu403=) c.1101A>G (p.Leu367=) c.1029A>G (p.Leu343=) c.1185A>G (p.Leu395=) c.870A>G (p.Leu290=) | |
6 | g.73610471T>G | CA140979053 | SLC17A5 | c.1188A>C (p.Leu396=) c.1137A>C (p.Leu379=) c.990A>C (p.Leu330=) c.1111+4844A>C (n.1111+4844A>C) c.957A>C (p.Leu319=) c.1209A>C (p.Leu403=) c.1101A>C (p.Leu367=) c.1029A>C (p.Leu343=) c.1185A>C (p.Leu395=) c.870A>C (p.Leu290=) | dbSNP |
6 | g.73610471T= | CA1638229758 | SLC17A5 | c.1188A= (p.Leu396=) c.1137A= (p.Leu379=) c.990A= (p.Leu330=) c.1111+4844A= (n.1111+4844A=) c.957A= (p.Leu319=) c.1209A= (p.Leu403=) c.1101A= (p.Leu367=) c.1029A= (p.Leu343=) c.1185A= (p.Leu395=) c.870A= (p.Leu290=) | |
6 | g.73610472A>C | CA364721051 | SLC17A5 | c.1187T>G (p.Leu396Arg) c.1136T>G (p.Leu379Arg) c.989T>G (p.Leu330Arg) c.1111+4843T>G (n.1111+4843T>G) c.956T>G (p.Leu319Arg) c.1208T>G (p.Leu403Arg) c.1100T>G (p.Leu367Arg) c.1028T>G (p.Leu343Arg) c.1184T>G (p.Leu395Arg) c.869T>G (p.Leu290Arg) | |
6 | g.73610472A>G | CA364721052 | SLC17A5 | c.1187T>C (p.Leu396Pro) c.1136T>C (p.Leu379Pro) c.989T>C (p.Leu330Pro) c.1111+4843T>C (n.1111+4843T>C) c.956T>C (p.Leu319Pro) c.1208T>C (p.Leu403Pro) c.1100T>C (p.Leu367Pro) c.1028T>C (p.Leu343Pro) c.1184T>C (p.Leu395Pro) c.869T>C (p.Leu290Pro) | |
6 | g.73610472A>T | CA364721053 | SLC17A5 | c.1187T>A (p.Leu396Gln) c.1136T>A (p.Leu379Gln) c.989T>A (p.Leu330Gln) c.1111+4843T>A (n.1111+4843T>A) c.956T>A (p.Leu319Gln) c.1208T>A (p.Leu403Gln) c.1100T>A (p.Leu367Gln) c.1028T>A (p.Leu343Gln) c.1184T>A (p.Leu395Gln) c.869T>A (p.Leu290Gln) | |
6 | g.73610473G>A | CA450914661 | SLC17A5 | c.1186C>T (p.Leu396=) c.1135C>T (p.Leu379=) c.988C>T (p.Leu330=) c.1111+4842C>T (n.1111+4842C>T) c.955C>T (p.Leu319=) c.1207C>T (p.Leu403=) c.1099C>T (p.Leu367=) c.1027C>T (p.Leu343=) c.1183C>T (p.Leu395=) c.868C>T (p.Leu290=) | |
6 | g.73610473G>C | CA364721054 | SLC17A5 | c.1186C>G (p.Leu396Val) c.1135C>G (p.Leu379Val) c.988C>G (p.Leu330Val) c.1111+4842C>G (n.1111+4842C>G) c.955C>G (p.Leu319Val) c.1207C>G (p.Leu403Val) c.1099C>G (p.Leu367Val) c.1027C>G (p.Leu343Val) c.1183C>G (p.Leu395Val) c.868C>G (p.Leu290Val) | |
6 | g.73610473G>T | CA364721055 | SLC17A5 | c.1186C>A (p.Leu396Ile) c.1135C>A (p.Leu379Ile) c.988C>A (p.Leu330Ile) c.1111+4842C>A (n.1111+4842C>A) c.955C>A (p.Leu319Ile) c.1207C>A (p.Leu403Ile) c.1099C>A (p.Leu367Ile) c.1027C>A (p.Leu343Ile) c.1183C>A (p.Leu395Ile) c.868C>A (p.Leu290Ile) | |
6 | g.73610474G>A | CA450914664 | SLC17A5 | c.1185C>T (p.Phe395=) c.1134C>T (p.Phe378=) c.987C>T (p.Phe329=) c.1111+4841C>T (n.1111+4841C>T) c.954C>T (p.Phe318=) c.1206C>T (p.Phe402=) c.1098C>T (p.Phe366=) c.1026C>T (p.Phe342=) c.1182C>T (p.Phe394=) c.867C>T (p.Phe289=) | |
6 | g.73610474G>C | CA364721057 | SLC17A5 | c.1185C>G (p.Phe395Leu) c.1134C>G (p.Phe378Leu) c.987C>G (p.Phe329Leu) c.1111+4841C>G (n.1111+4841C>G) c.954C>G (p.Phe318Leu) c.1206C>G (p.Phe402Leu) c.1098C>G (p.Phe366Leu) c.1026C>G (p.Phe342Leu) c.1182C>G (p.Phe394Leu) c.867C>G (p.Phe289Leu) | |
6 | g.73610474G>T | CA364721056 | SLC17A5 | c.1185C>A (p.Phe395Leu) c.1134C>A (p.Phe378Leu) c.987C>A (p.Phe329Leu) c.1111+4841C>A (n.1111+4841C>A) c.954C>A (p.Phe318Leu) c.1206C>A (p.Phe402Leu) c.1098C>A (p.Phe366Leu) c.1026C>A (p.Phe342Leu) c.1182C>A (p.Phe394Leu) c.867C>A (p.Phe289Leu) | |
6 | g.73610475A>C | CA364721058 | SLC17A5 | c.1184T>G (p.Phe395Cys) c.1133T>G (p.Phe378Cys) c.986T>G (p.Phe329Cys) c.1111+4840T>G (n.1111+4840T>G) c.953T>G (p.Phe318Cys) c.1205T>G (p.Phe402Cys) c.1097T>G (p.Phe366Cys) c.1025T>G (p.Phe342Cys) c.1181T>G (p.Phe394Cys) c.866T>G (p.Phe289Cys) | |
6 | g.73610475A>G | CA364721059 | SLC17A5 | c.1184T>C (p.Phe395Ser) c.1133T>C (p.Phe378Ser) c.986T>C (p.Phe329Ser) c.1111+4840T>C (n.1111+4840T>C) c.953T>C (p.Phe318Ser) c.1205T>C (p.Phe402Ser) c.1097T>C (p.Phe366Ser) c.1025T>C (p.Phe342Ser) c.1181T>C (p.Phe394Ser) c.866T>C (p.Phe289Ser) | |
6 | g.73610475A>T | CA364721060 | SLC17A5 | c.1184T>A (p.Phe395Tyr) c.1133T>A (p.Phe378Tyr) c.986T>A (p.Phe329Tyr) c.1111+4840T>A (n.1111+4840T>A) c.953T>A (p.Phe318Tyr) c.1205T>A (p.Phe402Tyr) c.1097T>A (p.Phe366Tyr) c.1025T>A (p.Phe342Tyr) c.1181T>A (p.Phe394Tyr) c.866T>A (p.Phe289Tyr) | |
6 | g.73610476A>C | CA364721061 | SLC17A5 | c.1183T>G (p.Phe395Val) c.1132T>G (p.Phe378Val) c.985T>G (p.Phe329Val) c.1111+4839T>G (n.1111+4839T>G) c.952T>G (p.Phe318Val) c.1204T>G (p.Phe402Val) c.1096T>G (p.Phe366Val) c.1024T>G (p.Phe342Val) c.1180T>G (p.Phe394Val) c.865T>G (p.Phe289Val) | |
6 | g.73610476A>G | CA364721062 | SLC17A5 | c.1183T>C (p.Phe395Leu) c.1132T>C (p.Phe378Leu) c.985T>C (p.Phe329Leu) c.1111+4839T>C (n.1111+4839T>C) c.952T>C (p.Phe318Leu) c.1204T>C (p.Phe402Leu) c.1096T>C (p.Phe366Leu) c.1024T>C (p.Phe342Leu) c.1180T>C (p.Phe394Leu) c.865T>C (p.Phe289Leu) | |
6 | g.73610476A>T | CA364721063 | SLC17A5 | c.1183T>A (p.Phe395Ile) c.1132T>A (p.Phe378Ile) c.985T>A (p.Phe329Ile) c.1111+4839T>A (n.1111+4839T>A) c.952T>A (p.Phe318Ile) c.1204T>A (p.Phe402Ile) c.1096T>A (p.Phe366Ile) c.1024T>A (p.Phe342Ile) c.1180T>A (p.Phe394Ile) c.865T>A (p.Phe289Ile) | |
6 | g.73610477A>C | CA450914675 | SLC17A5 | c.1182T>G (p.Ala394=) c.1131T>G (p.Ala377=) c.984T>G (p.Ala328=) c.1111+4838T>G (n.1111+4838T>G) c.951T>G (p.Ala317=) c.1203T>G (p.Ala401=) c.1095T>G (p.Ala365=) c.1023T>G (p.Ala341=) c.1179T>G (p.Ala393=) c.864T>G (p.Ala288=) | |
6 | g.73610477A>G | CA450914676 | SLC17A5 | c.1182T>C (p.Ala394=) c.1131T>C (p.Ala377=) c.984T>C (p.Ala328=) c.1111+4838T>C (n.1111+4838T>C) c.951T>C (p.Ala317=) c.1203T>C (p.Ala401=) c.1095T>C (p.Ala365=) c.1023T>C (p.Ala341=) c.1179T>C (p.Ala393=) c.864T>C (p.Ala288=) | ClinVar |
6 | g.73610477A>T | CA450914677 | SLC17A5 | c.1182T>A (p.Ala394=) c.1131T>A (p.Ala377=) c.984T>A (p.Ala328=) c.1111+4838T>A (n.1111+4838T>A) c.951T>A (p.Ala317=) c.1203T>A (p.Ala401=) c.1095T>A (p.Ala365=) c.1023T>A (p.Ala341=) c.1179T>A (p.Ala393=) c.864T>A (p.Ala288=) | |
6 | g.73610478G>A | CA364721064 | SLC17A5 | c.1181C>T (p.Ala394Val) c.1130C>T (p.Ala377Val) c.983C>T (p.Ala328Val) c.1111+4837C>T (n.1111+4837C>T) c.950C>T (p.Ala317Val) c.1202C>T (p.Ala401Val) c.1094C>T (p.Ala365Val) c.1022C>T (p.Ala341Val) c.1178C>T (p.Ala393Val) c.863C>T (p.Ala288Val) | |
6 | g.73610478G>C | CA364721065 | SLC17A5 | c.1181C>G (p.Ala394Gly) c.1130C>G (p.Ala377Gly) c.983C>G (p.Ala328Gly) c.1111+4837C>G (n.1111+4837C>G) c.950C>G (p.Ala317Gly) c.1202C>G (p.Ala401Gly) c.1094C>G (p.Ala365Gly) c.1022C>G (p.Ala341Gly) c.1178C>G (p.Ala393Gly) c.863C>G (p.Ala288Gly) | |
6 | g.73610478G= | CA1638229759 | SLC17A5 | c.1181C= (p.Ala394=) c.1130C= (p.Ala377=) c.983C= (p.Ala328=) c.1111+4837C= (n.1111+4837C=) c.950C= (p.Ala317=) c.1202C= (p.Ala401=) c.1094C= (p.Ala365=) c.1022C= (p.Ala341=) c.1178C= (p.Ala393=) c.863C= (p.Ala288=) | |
6 | g.73610478G>T | CA364721066 | SLC17A5 | c.1181C>A (p.Ala394Asp) c.1130C>A (p.Ala377Asp) c.983C>A (p.Ala328Asp) c.1111+4837C>A (n.1111+4837C>A) c.950C>A (p.Ala317Asp) c.1202C>A (p.Ala401Asp) c.1094C>A (p.Ala365Asp) c.1022C>A (p.Ala341Asp) c.1178C>A (p.Ala393Asp) c.863C>A (p.Ala288Asp) | dbSNP gnomAD v4 |
6 | g.73610479C>A | CA364721067 | SLC17A5 | c.1180G>T (p.Ala394Ser) c.1129G>T (p.Ala377Ser) c.982G>T (p.Ala328Ser) c.1111+4836G>T (n.1111+4836G>T) c.949G>T (p.Ala317Ser) c.1201G>T (p.Ala401Ser) c.1093G>T (p.Ala365Ser) c.1021G>T (p.Ala341Ser) c.1177G>T (p.Ala393Ser) c.862G>T (p.Ala288Ser) | |
6 | g.73610479C>G | CA364721068 | SLC17A5 | c.1180G>C (p.Ala394Pro) c.1129G>C (p.Ala377Pro) c.982G>C (p.Ala328Pro) c.1111+4836G>C (n.1111+4836G>C) c.949G>C (p.Ala317Pro) c.1201G>C (p.Ala401Pro) c.1093G>C (p.Ala365Pro) c.1021G>C (p.Ala341Pro) c.1177G>C (p.Ala393Pro) c.862G>C (p.Ala288Pro) | |
6 | g.73610479C>T | CA364721069 | SLC17A5 | c.1180G>A (p.Ala394Thr) c.1129G>A (p.Ala377Thr) c.982G>A (p.Ala328Thr) c.1111+4836G>A (n.1111+4836G>A) c.949G>A (p.Ala317Thr) c.1201G>A (p.Ala401Thr) c.1093G>A (p.Ala365Thr) c.1021G>A (p.Ala341Thr) c.1177G>A (p.Ala393Thr) c.862G>A (p.Ala288Thr) | |
6 | g.73610480A>C | CA450914688 | SLC17A5 | c.1179T>G (p.Val393=) c.1128T>G (p.Val376=) c.981T>G (p.Val327=) c.1111+4835T>G (n.1111+4835T>G) c.948T>G (p.Val316=) c.1200T>G (p.Val400=) c.1092T>G (p.Val364=) c.1020T>G (p.Val340=) c.1176T>G (p.Val392=) c.861T>G (p.Val287=) | |
6 | g.73610480A>G | CA450914687 | SLC17A5 | c.1179T>C (p.Val393=) c.1128T>C (p.Val376=) c.981T>C (p.Val327=) c.1111+4835T>C (n.1111+4835T>C) c.948T>C (p.Val316=) c.1200T>C (p.Val400=) c.1092T>C (p.Val364=) c.1020T>C (p.Val340=) c.1176T>C (p.Val392=) c.861T>C (p.Val287=) | |
6 | g.73610480A>T | CA450914686 | SLC17A5 | c.1179T>A (p.Val393=) c.1128T>A (p.Val376=) c.981T>A (p.Val327=) c.1111+4835T>A (n.1111+4835T>A) c.948T>A (p.Val316=) c.1200T>A (p.Val400=) c.1092T>A (p.Val364=) c.1020T>A (p.Val340=) c.1176T>A (p.Val392=) c.861T>A (p.Val287=) | |
6 | g.73610481dup | CA2679403540 | SLC17A5 | c.1179dup (p.Ala394CysfsTer18) c.1128dup (p.Ala377CysfsTer18) c.981dup (p.Ala328CysfsTer18) c.1111+4835dup (n.1111+4835dup) c.948dup (p.Ala317CysfsTer18) c.1200dup (p.Ala401CysfsTer18) c.1092dup (p.Ala365CysfsTer18) c.1020dup (p.Ala341CysfsTer18) c.1176dup (p.Ala393CysfsTer18) c.861dup (p.Ala288CysfsTer18) | gnomAD v4 |
6 | g.73610481A>C | CA364721071 | SLC17A5 | c.1178T>G (p.Val393Gly) c.1127T>G (p.Val376Gly) c.980T>G (p.Val327Gly) c.1111+4834T>G (n.1111+4834T>G) c.947T>G (p.Val316Gly) c.1199T>G (p.Val400Gly) c.1091T>G (p.Val364Gly) c.1019T>G (p.Val340Gly) c.1175T>G (p.Val392Gly) c.860T>G (p.Val287Gly) | |
6 | g.73610481A>G | CA364721072 | SLC17A5 | c.1178T>C (p.Val393Ala) c.1127T>C (p.Val376Ala) c.980T>C (p.Val327Ala) c.1111+4834T>C (n.1111+4834T>C) c.947T>C (p.Val316Ala) c.1199T>C (p.Val400Ala) c.1091T>C (p.Val364Ala) c.1019T>C (p.Val340Ala) c.1175T>C (p.Val392Ala) c.860T>C (p.Val287Ala) | |
6 | g.73610481A>T | CA364721070 | SLC17A5 | c.1178T>A (p.Val393Asp) c.1127T>A (p.Val376Asp) c.980T>A (p.Val327Asp) c.1111+4834T>A (n.1111+4834T>A) c.947T>A (p.Val316Asp) c.1199T>A (p.Val400Asp) c.1091T>A (p.Val364Asp) c.1019T>A (p.Val340Asp) c.1175T>A (p.Val392Asp) c.860T>A (p.Val287Asp) | |
6 | g.73610482C>A | CA364721073 | SLC17A5 | c.1177G>T (p.Val393Phe) c.1126G>T (p.Val376Phe) c.979G>T (p.Val327Phe) c.1111+4833G>T (n.1111+4833G>T) c.946G>T (p.Val316Phe) c.1198G>T (p.Val400Phe) c.1090G>T (p.Val364Phe) c.1018G>T (p.Val340Phe) c.1174G>T (p.Val392Phe) c.859G>T (p.Val287Phe) | |
6 | g.73610482C= | CA1638229760 | SLC17A5 | c.1177G= (p.Val393=) c.1126G= (p.Val376=) c.979G= (p.Val327=) c.1111+4833G= (n.1111+4833G=) c.946G= (p.Val316=) c.1198G= (p.Val400=) c.1090G= (p.Val364=) c.1018G= (p.Val340=) c.1174G= (p.Val392=) c.859G= (p.Val287=) | |
6 | g.73610482C>G | CA364721074 | SLC17A5 | c.1177G>C (p.Val393Leu) c.1126G>C (p.Val376Leu) c.979G>C (p.Val327Leu) c.1111+4833G>C (n.1111+4833G>C) c.946G>C (p.Val316Leu) c.1198G>C (p.Val400Leu) c.1090G>C (p.Val364Leu) c.1018G>C (p.Val340Leu) c.1174G>C (p.Val392Leu) c.859G>C (p.Val287Leu) | |
6 | g.73610482C>T | CA3890325 | SLC17A5 | c.1177G>A (p.Val393Ile) c.1126G>A (p.Val376Ile) c.979G>A (p.Val327Ile) c.1111+4833G>A (n.1111+4833G>A) c.946G>A (p.Val316Ile) c.1198G>A (p.Val400Ile) c.1090G>A (p.Val364Ile) c.1018G>A (p.Val340Ile) c.1174G>A (p.Val392Ile) c.859G>A (p.Val287Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73610483G>A | CA3890327 | SLC17A5 | c.1176C>T (p.Ala392=) c.1125C>T (p.Ala375=) c.978C>T (p.Ala326=) c.1111+4832C>T (n.1111+4832C>T) c.945C>T (p.Ala315=) c.1197C>T (p.Ala399=) c.1089C>T (p.Ala363=) c.1017C>T (p.Ala339=) c.1173C>T (p.Ala391=) c.858C>T (p.Ala286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73610483G>C | CA3890326 | SLC17A5 | c.1176C>G (p.Ala392=) c.1125C>G (p.Ala375=) c.978C>G (p.Ala326=) c.1111+4832C>G (n.1111+4832C>G) c.945C>G (p.Ala315=) c.1197C>G (p.Ala399=) c.1089C>G (p.Ala363=) c.1017C>G (p.Ala339=) c.1173C>G (p.Ala391=) c.858C>G (p.Ala286=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73610483G= | CA1638229761 | SLC17A5 | c.1176C= (p.Ala392=) c.1125C= (p.Ala375=) c.978C= (p.Ala326=) c.1111+4832C= (n.1111+4832C=) c.945C= (p.Ala315=) c.1197C= (p.Ala399=) c.1089C= (p.Ala363=) c.1017C= (p.Ala339=) c.1173C= (p.Ala391=) c.858C= (p.Ala286=) | |
6 | g.73610483G>T | CA450914696 | SLC17A5 | c.1176C>A (p.Ala392=) c.1125C>A (p.Ala375=) c.978C>A (p.Ala326=) c.1111+4832C>A (n.1111+4832C>A) c.945C>A (p.Ala315=) c.1197C>A (p.Ala399=) c.1089C>A (p.Ala363=) c.1017C>A (p.Ala339=) c.1173C>A (p.Ala391=) c.858C>A (p.Ala286=) | ClinVar |
6 | g.73610484G>A | CA364721077 | SLC17A5 | c.1175C>T (p.Ala392Val) c.1124C>T (p.Ala375Val) c.977C>T (p.Ala326Val) c.1111+4831C>T (n.1111+4831C>T) c.944C>T (p.Ala315Val) c.1196C>T (p.Ala399Val) c.1088C>T (p.Ala363Val) c.1016C>T (p.Ala339Val) c.1172C>T (p.Ala391Val) c.857C>T (p.Ala286Val) | ClinVar dbSNP gnomAD v4 |
6 | g.73610484G>C | CA364721075 | SLC17A5 | c.1175C>G (p.Ala392Gly) c.1124C>G (p.Ala375Gly) c.977C>G (p.Ala326Gly) c.1111+4831C>G (n.1111+4831C>G) c.944C>G (p.Ala315Gly) c.1196C>G (p.Ala399Gly) c.1088C>G (p.Ala363Gly) c.1016C>G (p.Ala339Gly) c.1172C>G (p.Ala391Gly) c.857C>G (p.Ala286Gly) | |
6 | g.73610484G= | CA1638229762 | SLC17A5 | c.1175C= (p.Ala392=) c.1124C= (p.Ala375=) c.977C= (p.Ala326=) c.1111+4831C= (n.1111+4831C=) c.944C= (p.Ala315=) c.1196C= (p.Ala399=) c.1088C= (p.Ala363=) c.1016C= (p.Ala339=) c.1172C= (p.Ala391=) c.857C= (p.Ala286=) | |
6 | g.73610484G>T | CA364721076 | SLC17A5 | c.1175C>A (p.Ala392Asp) c.1124C>A (p.Ala375Asp) c.977C>A (p.Ala326Asp) c.1111+4831C>A (n.1111+4831C>A) c.944C>A (p.Ala315Asp) c.1196C>A (p.Ala399Asp) c.1088C>A (p.Ala363Asp) c.1016C>A (p.Ala339Asp) c.1172C>A (p.Ala391Asp) c.857C>A (p.Ala286Asp) | gnomAD v4 |
6 | g.73610485C>A | CA364721078 | SLC17A5 | c.1174G>T (p.Ala392Ser) c.1123G>T (p.Ala375Ser) c.976G>T (p.Ala326Ser) c.1111+4830G>T (n.1111+4830G>T) c.943G>T (p.Ala315Ser) c.1195G>T (p.Ala399Ser) c.1087G>T (p.Ala363Ser) c.1015G>T (p.Ala339Ser) c.1171G>T (p.Ala391Ser) c.856G>T (p.Ala286Ser) | |
6 | g.73610485C= | CA1638229763 | SLC17A5 | c.1174G= (p.Ala392=) c.1123G= (p.Ala375=) c.976G= (p.Ala326=) c.1111+4830G= (n.1111+4830G=) c.943G= (p.Ala315=) c.1195G= (p.Ala399=) c.1087G= (p.Ala363=) c.1015G= (p.Ala339=) c.1171G= (p.Ala391=) c.856G= (p.Ala286=) | |
6 | g.73610485C>G | CA364721079 | SLC17A5 | c.1174G>C (p.Ala392Pro) c.1123G>C (p.Ala375Pro) c.976G>C (p.Ala326Pro) c.1111+4830G>C (n.1111+4830G>C) c.943G>C (p.Ala315Pro) c.1195G>C (p.Ala399Pro) c.1087G>C (p.Ala363Pro) c.1015G>C (p.Ala339Pro) c.1171G>C (p.Ala391Pro) c.856G>C (p.Ala286Pro) | |
6 | g.73610485C>T | CA140979099 | SLC17A5 | c.1174G>A (p.Ala392Thr) c.1123G>A (p.Ala375Thr) c.976G>A (p.Ala326Thr) c.1111+4830G>A (n.1111+4830G>A) c.943G>A (p.Ala315Thr) c.1195G>A (p.Ala399Thr) c.1087G>A (p.Ala363Thr) c.1015G>A (p.Ala339Thr) c.1171G>A (p.Ala391Thr) c.856G>A (p.Ala286Thr) | dbSNP |
6 | g.73610486C>A | CA364721080 | SLC17A5 | c.1173G>T (p.Leu391Phe) c.1122G>T (p.Leu374Phe) c.975G>T (p.Leu325Phe) c.1111+4829G>T (n.1111+4829G>T) c.942G>T (p.Leu314Phe) c.1194G>T (p.Leu398Phe) c.1086G>T (p.Leu362Phe) c.1014G>T (p.Leu338Phe) c.1170G>T (p.Leu390Phe) c.855G>T (p.Leu285Phe) | |
6 | g.73610486C= | CA1638229764 | SLC17A5 | c.1173G= (p.Leu391=) c.1122G= (p.Leu374=) c.975G= (p.Leu325=) c.1111+4829G= (n.1111+4829G=) c.942G= (p.Leu314=) c.1194G= (p.Leu398=) c.1086G= (p.Leu362=) c.1014G= (p.Leu338=) c.1170G= (p.Leu390=) c.855G= (p.Leu285=) | |
6 | g.73610486C>G | CA140979108 | SLC17A5 | c.1173G>C (p.Leu391Phe) c.1122G>C (p.Leu374Phe) c.975G>C (p.Leu325Phe) c.1111+4829G>C (n.1111+4829G>C) c.942G>C (p.Leu314Phe) c.1194G>C (p.Leu398Phe) c.1086G>C (p.Leu362Phe) c.1014G>C (p.Leu338Phe) c.1170G>C (p.Leu390Phe) c.855G>C (p.Leu285Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73610486C>T | CA450914706 | SLC17A5 | c.1173G>A (p.Leu391=) c.1122G>A (p.Leu374=) c.975G>A (p.Leu325=) c.1111+4829G>A (n.1111+4829G>A) c.942G>A (p.Leu314=) c.1194G>A (p.Leu398=) c.1086G>A (p.Leu362=) c.1014G>A (p.Leu338=) c.1170G>A (p.Leu390=) c.855G>A (p.Leu285=) | |
6 | g.73610487A>C | CA364721083 | SLC17A5 | c.1172T>G (p.Leu391Trp) c.1121T>G (p.Leu374Trp) c.974T>G (p.Leu325Trp) c.1111+4828T>G (n.1111+4828T>G) c.941T>G (p.Leu314Trp) c.1193T>G (p.Leu398Trp) c.1085T>G (p.Leu362Trp) c.1013T>G (p.Leu338Trp) c.1169T>G (p.Leu390Trp) c.854T>G (p.Leu285Trp) | |
6 | g.73610487A>G | CA364721081 | SLC17A5 | c.1172T>C (p.Leu391Ser) c.1121T>C (p.Leu374Ser) c.974T>C (p.Leu325Ser) c.1111+4828T>C (n.1111+4828T>C) c.941T>C (p.Leu314Ser) c.1193T>C (p.Leu398Ser) c.1085T>C (p.Leu362Ser) c.1013T>C (p.Leu338Ser) c.1169T>C (p.Leu390Ser) c.854T>C (p.Leu285Ser) | |
6 | g.73610487A>T | CA364721082 | SLC17A5 | c.1172T>A (p.Leu391Ter) c.1121T>A (p.Leu374Ter) c.974T>A (p.Leu325Ter) c.1111+4828T>A (n.1111+4828T>A) c.941T>A (p.Leu314Ter) c.1193T>A (p.Leu398Ter) c.1085T>A (p.Leu362Ter) c.1013T>A (p.Leu338Ter) c.1169T>A (p.Leu390Ter) c.854T>A (p.Leu285Ter) | |
6 | g.73610488A>C | CA364721084 | SLC17A5 | c.1171T>G (p.Leu391Val) c.1120T>G (p.Leu374Val) c.973T>G (p.Leu325Val) c.1111+4827T>G (n.1111+4827T>G) c.940T>G (p.Leu314Val) c.1192T>G (p.Leu398Val) c.1084T>G (p.Leu362Val) c.1012T>G (p.Leu338Val) c.1168T>G (p.Leu390Val) c.853T>G (p.Leu285Val) | |
6 | g.73610488A>G | CA450914708 | SLC17A5 | c.1171T>C (p.Leu391=) c.1120T>C (p.Leu374=) c.973T>C (p.Leu325=) c.1111+4827T>C (n.1111+4827T>C) c.940T>C (p.Leu314=) c.1192T>C (p.Leu398=) c.1084T>C (p.Leu362=) c.1012T>C (p.Leu338=) c.1168T>C (p.Leu390=) c.853T>C (p.Leu285=) | |
6 | g.73610488A>T | CA364721085 | SLC17A5 | c.1171T>A (p.Leu391Met) c.1120T>A (p.Leu374Met) c.973T>A (p.Leu325Met) c.1111+4827T>A (n.1111+4827T>A) c.940T>A (p.Leu314Met) c.1192T>A (p.Leu398Met) c.1084T>A (p.Leu362Met) c.1012T>A (p.Leu338Met) c.1168T>A (p.Leu390Met) c.853T>A (p.Leu285Met) | |
6 | g.73610489A>C | CA450914710 | SLC17A5 | c.1170T>G (p.Ser390=) c.1119T>G (p.Ser373=) c.972T>G (p.Ser324=) c.1111+4826T>G (n.1111+4826T>G) c.939T>G (p.Ser313=) c.1191T>G (p.Ser397=) c.1083T>G (p.Ser361=) c.1011T>G (p.Ser337=) c.1167T>G (p.Ser389=) c.852T>G (p.Ser284=) | |
6 | g.73610489A>G | CA450914711 | SLC17A5 | c.1170T>C (p.Ser390=) c.1119T>C (p.Ser373=) c.972T>C (p.Ser324=) c.1111+4826T>C (n.1111+4826T>C) c.939T>C (p.Ser313=) c.1191T>C (p.Ser397=) c.1083T>C (p.Ser361=) c.1011T>C (p.Ser337=) c.1167T>C (p.Ser389=) c.852T>C (p.Ser284=) | |
6 | g.73610489A>T | CA450914712 | SLC17A5 | c.1170T>A (p.Ser390=) c.1119T>A (p.Ser373=) c.972T>A (p.Ser324=) c.1111+4826T>A (n.1111+4826T>A) c.939T>A (p.Ser313=) c.1191T>A (p.Ser397=) c.1083T>A (p.Ser361=) c.1011T>A (p.Ser337=) c.1167T>A (p.Ser389=) c.852T>A (p.Ser284=) | |
6 | g.73610490G>A | CA364721086 | SLC17A5 | c.1169C>T (p.Ser390Phe) c.1118C>T (p.Ser373Phe) c.971C>T (p.Ser324Phe) c.1111+4825C>T (n.1111+4825C>T) c.938C>T (p.Ser313Phe) c.1190C>T (p.Ser397Phe) c.1082C>T (p.Ser361Phe) c.1010C>T (p.Ser337Phe) c.1166C>T (p.Ser389Phe) c.851C>T (p.Ser284Phe) | COSMIC |
6 | g.73610490G>C | CA3890328 | SLC17A5 | c.1169C>G (p.Ser390Cys) c.1118C>G (p.Ser373Cys) c.971C>G (p.Ser324Cys) c.1111+4825C>G (n.1111+4825C>G) c.938C>G (p.Ser313Cys) c.1190C>G (p.Ser397Cys) c.1082C>G (p.Ser361Cys) c.1010C>G (p.Ser337Cys) c.1166C>G (p.Ser389Cys) c.851C>G (p.Ser284Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73610490G= | CA1638229765 | SLC17A5 | c.1169C= (p.Ser390=) c.1118C= (p.Ser373=) c.971C= (p.Ser324=) c.1111+4825C= (n.1111+4825C=) c.938C= (p.Ser313=) c.1190C= (p.Ser397=) c.1082C= (p.Ser361=) c.1010C= (p.Ser337=) c.1166C= (p.Ser389=) c.851C= (p.Ser284=) | |
6 | g.73610490G>T | CA364721087 | SLC17A5 | c.1169C>A (p.Ser390Tyr) c.1118C>A (p.Ser373Tyr) c.971C>A (p.Ser324Tyr) c.1111+4825C>A (n.1111+4825C>A) c.938C>A (p.Ser313Tyr) c.1190C>A (p.Ser397Tyr) c.1082C>A (p.Ser361Tyr) c.1010C>A (p.Ser337Tyr) c.1166C>A (p.Ser389Tyr) c.851C>A (p.Ser284Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73610491A>C | CA364721088 | SLC17A5 | c.1168T>G (p.Ser390Ala) c.1117T>G (p.Ser373Ala) c.970T>G (p.Ser324Ala) c.1111+4824T>G (n.1111+4824T>G) c.937T>G (p.Ser313Ala) c.1189T>G (p.Ser397Ala) c.1081T>G (p.Ser361Ala) c.1009T>G (p.Ser337Ala) c.1165T>G (p.Ser389Ala) c.850T>G (p.Ser284Ala) | |
6 | g.73610491A>G | CA364721089 | SLC17A5 | c.1168T>C (p.Ser390Pro) c.1117T>C (p.Ser373Pro) c.970T>C (p.Ser324Pro) c.1111+4824T>C (n.1111+4824T>C) c.937T>C (p.Ser313Pro) c.1189T>C (p.Ser397Pro) c.1081T>C (p.Ser361Pro) c.1009T>C (p.Ser337Pro) c.1165T>C (p.Ser389Pro) c.850T>C (p.Ser284Pro) | |
6 | g.73610491A>T | CA364721090 | SLC17A5 | c.1168T>A (p.Ser390Thr) c.1117T>A (p.Ser373Thr) c.970T>A (p.Ser324Thr) c.1111+4824T>A (n.1111+4824T>A) c.937T>A (p.Ser313Thr) c.1189T>A (p.Ser397Thr) c.1081T>A (p.Ser361Thr) c.1009T>A (p.Ser337Thr) c.1165T>A (p.Ser389Thr) c.850T>A (p.Ser284Thr) | |
6 | g.73610492A= | CA1638229766 | SLC17A5 | c.1167T= (p.Tyr389=) c.1116T= (p.Tyr372=) c.969T= (p.Tyr323=) c.1111+4823T= (n.1111+4823T=) c.936T= (p.Tyr312=) c.1188T= (p.Tyr396=) c.1080T= (p.Tyr360=) c.1008T= (p.Tyr336=) c.1164T= (p.Tyr388=) c.849T= (p.Tyr283=) | |
6 | g.73610492A>C | CA364721091 | SLC17A5 | c.1167T>G (p.Tyr389Ter) c.1116T>G (p.Tyr372Ter) c.969T>G (p.Tyr323Ter) c.1111+4823T>G (n.1111+4823T>G) c.936T>G (p.Tyr312Ter) c.1188T>G (p.Tyr396Ter) c.1080T>G (p.Tyr360Ter) c.1008T>G (p.Tyr336Ter) c.1164T>G (p.Tyr388Ter) c.849T>G (p.Tyr283Ter) | |
6 | g.73610492A>G | CA140979122 | SLC17A5 | c.1167T>C (p.Tyr389=) c.1116T>C (p.Tyr372=) c.969T>C (p.Tyr323=) c.1111+4823T>C (n.1111+4823T>C) c.936T>C (p.Tyr312=) c.1188T>C (p.Tyr396=) c.1080T>C (p.Tyr360=) c.1008T>C (p.Tyr336=) c.1164T>C (p.Tyr388=) c.849T>C (p.Tyr283=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.73610492A>T | CA364721092 | SLC17A5 | c.1167T>A (p.Tyr389Ter) c.1116T>A (p.Tyr372Ter) c.969T>A (p.Tyr323Ter) c.1111+4823T>A (n.1111+4823T>A) c.936T>A (p.Tyr312Ter) c.1188T>A (p.Tyr396Ter) c.1080T>A (p.Tyr360Ter) c.1008T>A (p.Tyr336Ter) c.1164T>A (p.Tyr388Ter) c.849T>A (p.Tyr283Ter) | |
6 | g.73610493T>A | CA364721093 | SLC17A5 | c.1166A>T (p.Tyr389Phe) c.1115A>T (p.Tyr372Phe) c.968A>T (p.Tyr323Phe) c.1111+4822A>T (n.1111+4822A>T) c.935A>T (p.Tyr312Phe) c.1187A>T (p.Tyr396Phe) c.1079A>T (p.Tyr360Phe) c.1007A>T (p.Tyr336Phe) c.1163A>T (p.Tyr388Phe) c.848A>T (p.Tyr283Phe) | |
6 | g.73610493T>C | CA3890329 | SLC17A5 | c.1166A>G (p.Tyr389Cys) c.1115A>G (p.Tyr372Cys) c.968A>G (p.Tyr323Cys) c.1111+4822A>G (n.1111+4822A>G) c.935A>G (p.Tyr312Cys) c.1187A>G (p.Tyr396Cys) c.1079A>G (p.Tyr360Cys) c.1007A>G (p.Tyr336Cys) c.1163A>G (p.Tyr388Cys) c.848A>G (p.Tyr283Cys) | dbSNP ExAC gnomAD v2 |
6 | g.73610493T>G | CA364721094 | SLC17A5 | c.1166A>C (p.Tyr389Ser) c.1115A>C (p.Tyr372Ser) c.968A>C (p.Tyr323Ser) c.1111+4822A>C (n.1111+4822A>C) c.935A>C (p.Tyr312Ser) c.1187A>C (p.Tyr396Ser) c.1079A>C (p.Tyr360Ser) c.1007A>C (p.Tyr336Ser) c.1163A>C (p.Tyr388Ser) c.848A>C (p.Tyr283Ser) | |
6 | g.73610493T= | CA1638229767 | SLC17A5 | c.1166A= (p.Tyr389=) c.1115A= (p.Tyr372=) c.968A= (p.Tyr323=) c.1111+4822A= (n.1111+4822A=) c.935A= (p.Tyr312=) c.1187A= (p.Tyr396=) c.1079A= (p.Tyr360=) c.1007A= (p.Tyr336=) c.1163A= (p.Tyr388=) c.848A= (p.Tyr283=) | |
6 | g.73610494A>C | CA364721095 | SLC17A5 | c.1165T>G (p.Tyr389Asp) c.1114T>G (p.Tyr372Asp) c.967T>G (p.Tyr323Asp) c.1111+4821T>G (n.1111+4821T>G) c.934T>G (p.Tyr312Asp) c.1186T>G (p.Tyr396Asp) c.1078T>G (p.Tyr360Asp) c.1006T>G (p.Tyr336Asp) c.1162T>G (p.Tyr388Asp) c.847T>G (p.Tyr283Asp) | |
6 | g.73610494A>G | CA364721097 | SLC17A5 | c.1165T>C (p.Tyr389His) c.1114T>C (p.Tyr372His) c.967T>C (p.Tyr323His) c.1111+4821T>C (n.1111+4821T>C) c.934T>C (p.Tyr312His) c.1186T>C (p.Tyr396His) c.1078T>C (p.Tyr360His) c.1006T>C (p.Tyr336His) c.1162T>C (p.Tyr388His) c.847T>C (p.Tyr283His) | |
6 | g.73610494A>T | CA364721096 | SLC17A5 | c.1165T>A (p.Tyr389Asn) c.1114T>A (p.Tyr372Asn) c.967T>A (p.Tyr323Asn) c.1111+4821T>A (n.1111+4821T>A) c.934T>A (p.Tyr312Asn) c.1186T>A (p.Tyr396Asn) c.1078T>A (p.Tyr360Asn) c.1006T>A (p.Tyr336Asn) c.1162T>A (p.Tyr388Asn) c.847T>A (p.Tyr283Asn) | |
6 | g.73610495A>C | CA364721098 | SLC17A5 | c.1164T>G (p.Asp388Glu) c.1113T>G (p.Asp371Glu) c.966T>G (p.Asp322Glu) c.1111+4820T>G (n.1111+4820T>G) c.933T>G (p.Asp311Glu) c.1185T>G (p.Asp395Glu) c.1077T>G (p.Asp359Glu) c.1005T>G (p.Asp335Glu) c.1161T>G (p.Asp387Glu) c.846T>G (p.Asp282Glu) | |
6 | g.73610495A>G | CA450914726 | SLC17A5 | c.1164T>C (p.Asp388=) c.1113T>C (p.Asp371=) c.966T>C (p.Asp322=) c.1111+4820T>C (n.1111+4820T>C) c.933T>C (p.Asp311=) c.1185T>C (p.Asp395=) c.1077T>C (p.Asp359=) c.1005T>C (p.Asp335=) c.1161T>C (p.Asp387=) c.846T>C (p.Asp282=) | |
6 | g.73610495A>T | CA364721099 | SLC17A5 | c.1164T>A (p.Asp388Glu) c.1113T>A (p.Asp371Glu) c.966T>A (p.Asp322Glu) c.1111+4820T>A (n.1111+4820T>A) c.933T>A (p.Asp311Glu) c.1185T>A (p.Asp395Glu) c.1077T>A (p.Asp359Glu) c.1005T>A (p.Asp335Glu) c.1161T>A (p.Asp387Glu) c.846T>A (p.Asp282Glu) | |
6 | g.73610496T>A | CA364721100 | SLC17A5 | c.1163A>T (p.Asp388Val) c.1112A>T (p.Asp371Val) c.965A>T (p.Asp322Val) c.1111+4819A>T (n.1111+4819A>T) c.932A>T (p.Asp311Val) c.1184A>T (p.Asp395Val) c.1076A>T (p.Asp359Val) c.1004A>T (p.Asp335Val) c.1160A>T (p.Asp387Val) c.845A>T (p.Asp282Val) | |
6 | g.73610496T>C | CA364721101 | SLC17A5 | c.1163A>G (p.Asp388Gly) c.1112A>G (p.Asp371Gly) c.965A>G (p.Asp322Gly) c.1111+4819A>G (n.1111+4819A>G) c.932A>G (p.Asp311Gly) c.1184A>G (p.Asp395Gly) c.1076A>G (p.Asp359Gly) c.1004A>G (p.Asp335Gly) c.1160A>G (p.Asp387Gly) c.845A>G (p.Asp282Gly) | dbSNP gnomAD v2 |
6 | g.73610496T>G | CA364721102 | SLC17A5 | c.1163A>C (p.Asp388Ala) c.1112A>C (p.Asp371Ala) c.965A>C (p.Asp322Ala) c.1111+4819A>C (n.1111+4819A>C) c.932A>C (p.Asp311Ala) c.1184A>C (p.Asp395Ala) c.1076A>C (p.Asp359Ala) c.1004A>C (p.Asp335Ala) c.1160A>C (p.Asp387Ala) c.845A>C (p.Asp282Ala) | |
6 | g.73610496T= | CA1638229768 | SLC17A5 | c.1163A= (p.Asp388=) c.1112A= (p.Asp371=) c.965A= (p.Asp322=) c.1111+4819A= (n.1111+4819A=) c.932A= (p.Asp311=) c.1184A= (p.Asp395=) c.1076A= (p.Asp359=) c.1004A= (p.Asp335=) c.1160A= (p.Asp387=) c.845A= (p.Asp282=) | |
6 | g.73610497C>A | CA364721103 | SLC17A5 | c.1162G>T (p.Asp388Tyr) c.1111G>T (p.Asp371Tyr) c.964G>T (p.Asp322Tyr) c.1111+4818G>T (n.1111+4818G>T) c.931G>T (p.Asp311Tyr) c.1183G>T (p.Asp395Tyr) c.1075G>T (p.Asp359Tyr) c.1003G>T (p.Asp335Tyr) c.1159G>T (p.Asp387Tyr) c.844G>T (p.Asp282Tyr) | |
6 | g.73610497C>G | CA364721104 | SLC17A5 | c.1162G>C (p.Asp388His) c.1111G>C (p.Asp371His) c.964G>C (p.Asp322His) c.1111+4818G>C (n.1111+4818G>C) c.931G>C (p.Asp311His) c.1183G>C (p.Asp395His) c.1075G>C (p.Asp359His) c.1003G>C (p.Asp335His) c.1159G>C (p.Asp387His) c.844G>C (p.Asp282His) | |
6 | g.73610497C>T | CA364721105 | SLC17A5 | c.1162G>A (p.Asp388Asn) c.1111G>A (p.Asp371Asn) c.964G>A (p.Asp322Asn) c.1111+4818G>A (n.1111+4818G>A) c.931G>A (p.Asp311Asn) c.1183G>A (p.Asp395Asn) c.1075G>A (p.Asp359Asn) c.1003G>A (p.Asp335Asn) c.1159G>A (p.Asp387Asn) c.844G>A (p.Asp282Asn) | |
6 | g.73610498A= | CA1638229769 | SLC17A5 | c.1161T= (p.Cys387=) c.1110T= (p.Cys370=) c.963T= (p.Cys321=) c.1111+4817T= (n.1111+4817T=) c.930T= (p.Cys310=) c.1182T= (p.Cys394=) c.1074T= (p.Cys358=) c.1002T= (p.Cys334=) c.1158T= (p.Cys386=) c.843T= (p.Cys281=) | |
6 | g.73610498A>C | CA3890330 | SLC17A5 | c.1161T>G (p.Cys387Trp) c.1110T>G (p.Cys370Trp) c.963T>G (p.Cys321Trp) c.1111+4817T>G (n.1111+4817T>G) c.930T>G (p.Cys310Trp) c.1182T>G (p.Cys394Trp) c.1074T>G (p.Cys358Trp) c.1002T>G (p.Cys334Trp) c.1158T>G (p.Cys386Trp) c.843T>G (p.Cys281Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73610498A>G | CA3890331 | SLC17A5 | c.1161T>C (p.Cys387=) c.1110T>C (p.Cys370=) c.963T>C (p.Cys321=) c.1111+4817T>C (n.1111+4817T>C) c.930T>C (p.Cys310=) c.1182T>C (p.Cys394=) c.1074T>C (p.Cys358=) c.1002T>C (p.Cys334=) c.1158T>C (p.Cys386=) c.843T>C (p.Cys281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73610498A>T | CA364721106 | SLC17A5 | c.1161T>A (p.Cys387Ter) c.1110T>A (p.Cys370Ter) c.963T>A (p.Cys321Ter) c.1111+4817T>A (n.1111+4817T>A) c.930T>A (p.Cys310Ter) c.1182T>A (p.Cys394Ter) c.1074T>A (p.Cys358Ter) c.1002T>A (p.Cys334Ter) c.1158T>A (p.Cys386Ter) c.843T>A (p.Cys281Ter) | |
6 | g.73610499C>A | CA364721108 | SLC17A5 | c.1160G>T (p.Cys387Phe) c.1109G>T (p.Cys370Phe) c.962G>T (p.Cys321Phe) c.1111+4816G>T (n.1111+4816G>T) c.929G>T (p.Cys310Phe) c.1181G>T (p.Cys394Phe) c.1073G>T (p.Cys358Phe) c.1001G>T (p.Cys334Phe) c.1157G>T (p.Cys386Phe) c.842G>T (p.Cys281Phe) | |
6 | g.73610499C= | CA1638229770 | SLC17A5 | c.1160G= (p.Cys387=) c.1109G= (p.Cys370=) c.962G= (p.Cys321=) c.1111+4816G= (n.1111+4816G=) c.929G= (p.Cys310=) c.1181G= (p.Cys394=) c.1073G= (p.Cys358=) c.1001G= (p.Cys334=) c.1157G= (p.Cys386=) c.842G= (p.Cys281=) | |
6 | g.73610499C>G | CA3890332 | SLC17A5 | c.1160G>C (p.Cys387Ser) c.1109G>C (p.Cys370Ser) c.962G>C (p.Cys321Ser) c.1111+4816G>C (n.1111+4816G>C) c.929G>C (p.Cys310Ser) c.1181G>C (p.Cys394Ser) c.1073G>C (p.Cys358Ser) c.1001G>C (p.Cys334Ser) c.1157G>C (p.Cys386Ser) c.842G>C (p.Cys281Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73610499C>T | CA364721107 | SLC17A5 | c.1160G>A (p.Cys387Tyr) c.1109G>A (p.Cys370Tyr) c.962G>A (p.Cys321Tyr) c.1111+4816G>A (n.1111+4816G>A) c.929G>A (p.Cys310Tyr) c.1181G>A (p.Cys394Tyr) c.1073G>A (p.Cys358Tyr) c.1001G>A (p.Cys334Tyr) c.1157G>A (p.Cys386Tyr) c.842G>A (p.Cys281Tyr) | |
6 | g.73610500A>C | CA364721109 | SLC17A5 | c.1159T>G (p.Cys387Gly) c.1108T>G (p.Cys370Gly) c.961T>G (p.Cys321Gly) c.1111+4815T>G (n.1111+4815T>G) c.928T>G (p.Cys310Gly) c.1180T>G (p.Cys394Gly) c.1072T>G (p.Cys358Gly) c.1000T>G (p.Cys334Gly) c.1156T>G (p.Cys386Gly) c.841T>G (p.Cys281Gly) | |
6 | g.73610500A>G | CA364721110 | SLC17A5 | c.1159T>C (p.Cys387Arg) c.1108T>C (p.Cys370Arg) c.961T>C (p.Cys321Arg) c.1111+4815T>C (n.1111+4815T>C) c.928T>C (p.Cys310Arg) c.1180T>C (p.Cys394Arg) c.1072T>C (p.Cys358Arg) c.1000T>C (p.Cys334Arg) c.1156T>C (p.Cys386Arg) c.841T>C (p.Cys281Arg) | |
6 | g.73610500A>T | CA364721111 | SLC17A5 | c.1159T>A (p.Cys387Ser) c.1108T>A (p.Cys370Ser) c.961T>A (p.Cys321Ser) c.1111+4815T>A (n.1111+4815T>A) c.928T>A (p.Cys310Ser) c.1180T>A (p.Cys394Ser) c.1072T>A (p.Cys358Ser) c.1000T>A (p.Cys334Ser) c.1156T>A (p.Cys386Ser) c.841T>A (p.Cys281Ser) | |
6 | g.73610501G>A | CA450914742 | SLC17A5 | c.1158C>T (p.Gly386=) c.1107C>T (p.Gly369=) c.960C>T (p.Gly320=) c.1111+4814C>T (n.1111+4814C>T) c.927C>T (p.Gly309=) c.1179C>T (p.Gly393=) c.1071C>T (p.Gly357=) c.999C>T (p.Gly333=) c.1155C>T (p.Gly385=) c.840C>T (p.Gly280=) | |
6 | g.73610501G>C | CA450914744 | SLC17A5 | c.1158C>G (p.Gly386=) c.1107C>G (p.Gly369=) c.960C>G (p.Gly320=) c.1111+4814C>G (n.1111+4814C>G) c.927C>G (p.Gly309=) c.1179C>G (p.Gly393=) c.1071C>G (p.Gly357=) c.999C>G (p.Gly333=) c.1155C>G (p.Gly385=) c.840C>G (p.Gly280=) | |
6 | g.73610501G>T | CA450914738 | SLC17A5 | c.1158C>A (p.Gly386=) c.1107C>A (p.Gly369=) c.960C>A (p.Gly320=) c.1111+4814C>A (n.1111+4814C>A) c.927C>A (p.Gly309=) c.1179C>A (p.Gly393=) c.1071C>A (p.Gly357=) c.999C>A (p.Gly333=) c.1155C>A (p.Gly385=) c.840C>A (p.Gly280=) | |
6 | g.73610502C>A | CA364721112 | SLC17A5 | c.1157G>T (p.Gly386Val) c.1106G>T (p.Gly369Val) c.959G>T (p.Gly320Val) c.1111+4813G>T (n.1111+4813G>T) c.926G>T (p.Gly309Val) c.1178G>T (p.Gly393Val) c.1070G>T (p.Gly357Val) c.998G>T (p.Gly333Val) c.1154G>T (p.Gly385Val) c.839G>T (p.Gly280Val) | |
6 | g.73610502C>G | CA364721113 | SLC17A5 | c.1157G>C (p.Gly386Ala) c.1106G>C (p.Gly369Ala) c.959G>C (p.Gly320Ala) c.1111+4813G>C (n.1111+4813G>C) c.926G>C (p.Gly309Ala) c.1178G>C (p.Gly393Ala) c.1070G>C (p.Gly357Ala) c.998G>C (p.Gly333Ala) c.1154G>C (p.Gly385Ala) c.839G>C (p.Gly280Ala) | |
6 | g.73610502C>T | CA364721114 | SLC17A5 | c.1157G>A (p.Gly386Asp) c.1106G>A (p.Gly369Asp) c.959G>A (p.Gly320Asp) c.1111+4813G>A (n.1111+4813G>A) c.926G>A (p.Gly309Asp) c.1178G>A (p.Gly393Asp) c.1070G>A (p.Gly357Asp) c.998G>A (p.Gly333Asp) c.1154G>A (p.Gly385Asp) c.839G>A (p.Gly280Asp) | |
6 | g.73610503C>A | CA364721115 | SLC17A5 | c.1156G>T (p.Gly386Cys) c.1105G>T (p.Gly369Cys) c.958G>T (p.Gly320Cys) c.1111+4812G>T (n.1111+4812G>T) c.925G>T (p.Gly309Cys) c.1177G>T (p.Gly393Cys) c.1069G>T (p.Gly357Cys) c.997G>T (p.Gly333Cys) c.1153G>T (p.Gly385Cys) c.838G>T (p.Gly280Cys) | |
6 | g.73610503C>G | CA364721116 | SLC17A5 | c.1156G>C (p.Gly386Arg) c.1105G>C (p.Gly369Arg) c.958G>C (p.Gly320Arg) c.1111+4812G>C (n.1111+4812G>C) c.925G>C (p.Gly309Arg) c.1177G>C (p.Gly393Arg) c.1069G>C (p.Gly357Arg) c.997G>C (p.Gly333Arg) c.1153G>C (p.Gly385Arg) c.838G>C (p.Gly280Arg) | |
6 | g.73610503C>T | CA364721117 | SLC17A5 | c.1156G>A (p.Gly386Ser) c.1105G>A (p.Gly369Ser) c.958G>A (p.Gly320Ser) c.1111+4812G>A (n.1111+4812G>A) c.925G>A (p.Gly309Ser) c.1177G>A (p.Gly393Ser) c.1069G>A (p.Gly357Ser) c.997G>A (p.Gly333Ser) c.1153G>A (p.Gly385Ser) c.838G>A (p.Gly280Ser) | |
6 | g.73610504A>C | CA364721118 | SLC17A5 | c.1155T>G (p.Ile385Met) c.1104T>G (p.Ile368Met) c.957T>G (p.Ile319Met) c.1111+4811T>G (n.1111+4811T>G) c.924T>G (p.Ile308Met) c.1176T>G (p.Ile392Met) c.1068T>G (p.Ile356Met) c.996T>G (p.Ile332Met) c.1152T>G (p.Ile384Met) c.837T>G (p.Ile279Met) | |
6 | g.73610504A>G | CA450914749 | SLC17A5 | c.1155T>C (p.Ile385=) c.1104T>C (p.Ile368=) c.957T>C (p.Ile319=) c.1111+4811T>C (n.1111+4811T>C) c.924T>C (p.Ile308=) c.1176T>C (p.Ile392=) c.1068T>C (p.Ile356=) c.996T>C (p.Ile332=) c.1152T>C (p.Ile384=) c.837T>C (p.Ile279=) | |
6 | g.73610504A>T | CA450914750 | SLC17A5 | c.1155T>A (p.Ile385=) c.1104T>A (p.Ile368=) c.957T>A (p.Ile319=) c.1111+4811T>A (n.1111+4811T>A) c.924T>A (p.Ile308=) c.1176T>A (p.Ile392=) c.1068T>A (p.Ile356=) c.996T>A (p.Ile332=) c.1152T>A (p.Ile384=) c.837T>A (p.Ile279=) | |
6 | g.73610505A= | CA1638229771 | SLC17A5 | c.1154T= (p.Ile385=) c.1103T= (p.Ile368=) c.956T= (p.Ile319=) c.1111+4810T= (n.1111+4810T=) c.923T= (p.Ile308=) c.1175T= (p.Ile392=) c.1067T= (p.Ile356=) c.995T= (p.Ile332=) c.1151T= (p.Ile384=) c.836T= (p.Ile279=) | |
6 | g.73610505A>C | CA364721119 | SLC17A5 | c.1154T>G (p.Ile385Ser) c.1103T>G (p.Ile368Ser) c.956T>G (p.Ile319Ser) c.1111+4810T>G (n.1111+4810T>G) c.923T>G (p.Ile308Ser) c.1175T>G (p.Ile392Ser) c.1067T>G (p.Ile356Ser) c.995T>G (p.Ile332Ser) c.1151T>G (p.Ile384Ser) c.836T>G (p.Ile279Ser) | |
6 | g.73610505A>G | CA3890333 | SLC17A5 | c.1154T>C (p.Ile385Thr) c.1103T>C (p.Ile368Thr) c.956T>C (p.Ile319Thr) c.1111+4810T>C (n.1111+4810T>C) c.923T>C (p.Ile308Thr) c.1175T>C (p.Ile392Thr) c.1067T>C (p.Ile356Thr) c.995T>C (p.Ile332Thr) c.1151T>C (p.Ile384Thr) c.836T>C (p.Ile279Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73610505A>T | CA364721120 | SLC17A5 | c.1154T>A (p.Ile385Asn) c.1103T>A (p.Ile368Asn) c.956T>A (p.Ile319Asn) c.1111+4810T>A (n.1111+4810T>A) c.923T>A (p.Ile308Asn) c.1175T>A (p.Ile392Asn) c.1067T>A (p.Ile356Asn) c.995T>A (p.Ile332Asn) c.1151T>A (p.Ile384Asn) c.836T>A (p.Ile279Asn) | |
6 | g.73610506T>A | CA364721122 | SLC17A5 | c.1153A>T (p.Ile385Phe) c.1102A>T (p.Ile368Phe) c.955A>T (p.Ile319Phe) c.1111+4809A>T (n.1111+4809A>T) c.922A>T (p.Ile308Phe) c.1174A>T (p.Ile392Phe) c.1066A>T (p.Ile356Phe) c.994A>T (p.Ile332Phe) c.1150A>T (p.Ile384Phe) c.835A>T (p.Ile279Phe) | |
6 | g.73610506T>C | CA364721123 | SLC17A5 | c.1153A>G (p.Ile385Val) c.1102A>G (p.Ile368Val) c.955A>G (p.Ile319Val) c.1111+4809A>G (n.1111+4809A>G) c.922A>G (p.Ile308Val) c.1174A>G (p.Ile392Val) c.1066A>G (p.Ile356Val) c.994A>G (p.Ile332Val) c.1150A>G (p.Ile384Val) c.835A>G (p.Ile279Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.73610506T>G | CA364721121 | SLC17A5 | c.1153A>C (p.Ile385Leu) c.1102A>C (p.Ile368Leu) c.955A>C (p.Ile319Leu) c.1111+4809A>C (n.1111+4809A>C) c.922A>C (p.Ile308Leu) c.1174A>C (p.Ile392Leu) c.1066A>C (p.Ile356Leu) c.994A>C (p.Ile332Leu) c.1150A>C (p.Ile384Leu) c.835A>C (p.Ile279Leu) | |
6 | g.73610506T= | CA1638229772 | SLC17A5 | c.1153A= (p.Ile385=) c.1102A= (p.Ile368=) c.955A= (p.Ile319=) c.1111+4809A= (n.1111+4809A=) c.922A= (p.Ile308=) c.1174A= (p.Ile392=) c.1066A= (p.Ile356=) c.994A= (p.Ile332=) c.1150A= (p.Ile384=) c.835A= (p.Ile279=) | |
6 | g.73610507G>A | CA450914757 | SLC17A5 | c.1152C>T (p.Phe384=) c.1101C>T (p.Phe367=) c.954C>T (p.Phe318=) c.1111+4808C>T (n.1111+4808C>T) c.921C>T (p.Phe307=) c.1173C>T (p.Phe391=) c.1065C>T (p.Phe355=) c.993C>T (p.Phe331=) c.1149C>T (p.Phe383=) c.834C>T (p.Phe278=) | gnomAD v4 |
6 | g.73610507G>C | CA364721125 | SLC17A5 | c.1152C>G (p.Phe384Leu) c.1101C>G (p.Phe367Leu) c.954C>G (p.Phe318Leu) c.1111+4808C>G (n.1111+4808C>G) c.921C>G (p.Phe307Leu) c.1173C>G (p.Phe391Leu) c.1065C>G (p.Phe355Leu) c.993C>G (p.Phe331Leu) c.1149C>G (p.Phe383Leu) c.834C>G (p.Phe278Leu) | |
6 | g.73610507G>T | CA364721124 | SLC17A5 | c.1152C>A (p.Phe384Leu) c.1101C>A (p.Phe367Leu) c.954C>A (p.Phe318Leu) c.1111+4808C>A (n.1111+4808C>A) c.921C>A (p.Phe307Leu) c.1173C>A (p.Phe391Leu) c.1065C>A (p.Phe355Leu) c.993C>A (p.Phe331Leu) c.1149C>A (p.Phe383Leu) c.834C>A (p.Phe278Leu) | |
6 | g.73610508A>C | CA364721128 | SLC17A5 | c.1151T>G (p.Phe384Cys) c.1100T>G (p.Phe367Cys) c.953T>G (p.Phe318Cys) c.1111+4807T>G (n.1111+4807T>G) c.920T>G (p.Phe307Cys) c.1172T>G (p.Phe391Cys) c.1064T>G (p.Phe355Cys) c.992T>G (p.Phe331Cys) c.1148T>G (p.Phe383Cys) c.833T>G (p.Phe278Cys) | |
6 | g.73610508A>G | CA364721126 | SLC17A5 | c.1151T>C (p.Phe384Ser) c.1100T>C (p.Phe367Ser) c.953T>C (p.Phe318Ser) c.1111+4807T>C (n.1111+4807T>C) c.920T>C (p.Phe307Ser) c.1172T>C (p.Phe391Ser) c.1064T>C (p.Phe355Ser) c.992T>C (p.Phe331Ser) c.1148T>C (p.Phe383Ser) c.833T>C (p.Phe278Ser) | |
6 | g.73610508A>T | CA364721127 | SLC17A5 | c.1151T>A (p.Phe384Tyr) c.1100T>A (p.Phe367Tyr) c.953T>A (p.Phe318Tyr) c.1111+4807T>A (n.1111+4807T>A) c.920T>A (p.Phe307Tyr) c.1172T>A (p.Phe391Tyr) c.1064T>A (p.Phe355Tyr) c.992T>A (p.Phe331Tyr) c.1148T>A (p.Phe383Tyr) c.833T>A (p.Phe278Tyr) | |
6 | g.73610509A>C | CA364721129 | SLC17A5 | c.1150T>G (p.Phe384Val) c.1099T>G (p.Phe367Val) c.952T>G (p.Phe318Val) c.1111+4806T>G (n.1111+4806T>G) c.919T>G (p.Phe307Val) c.1171T>G (p.Phe391Val) c.1063T>G (p.Phe355Val) c.991T>G (p.Phe331Val) c.1147T>G (p.Phe383Val) c.832T>G (p.Phe278Val) | |
6 | g.73610509A>G | CA364721130 | SLC17A5 | c.1150T>C (p.Phe384Leu) c.1099T>C (p.Phe367Leu) c.952T>C (p.Phe318Leu) c.1111+4806T>C (n.1111+4806T>C) c.919T>C (p.Phe307Leu) c.1171T>C (p.Phe391Leu) c.1063T>C (p.Phe355Leu) c.991T>C (p.Phe331Leu) c.1147T>C (p.Phe383Leu) c.832T>C (p.Phe278Leu) | |
6 | g.73610509A>T | CA364721131 | SLC17A5 | c.1150T>A (p.Phe384Ile) c.1099T>A (p.Phe367Ile) c.952T>A (p.Phe318Ile) c.1111+4806T>A (n.1111+4806T>A) c.919T>A (p.Phe307Ile) c.1171T>A (p.Phe391Ile) c.1063T>A (p.Phe355Ile) c.991T>A (p.Phe331Ile) c.1147T>A (p.Phe383Ile) c.832T>A (p.Phe278Ile) | |
6 | g.73610510G>A | CA450914765 | SLC17A5 | c.1149C>T (p.Gly383=) c.1098C>T (p.Gly366=) c.951C>T (p.Gly317=) c.1111+4805C>T (n.1111+4805C>T) c.918C>T (p.Gly306=) c.1170C>T (p.Gly390=) c.1062C>T (p.Gly354=) c.990C>T (p.Gly330=) c.1146C>T (p.Gly382=) c.831C>T (p.Gly277=) | ClinVar gnomAD v4 |
6 | g.73610510G>C | CA450914766 | SLC17A5 | c.1149C>G (p.Gly383=) c.1098C>G (p.Gly366=) c.951C>G (p.Gly317=) c.1111+4805C>G (n.1111+4805C>G) c.918C>G (p.Gly306=) c.1170C>G (p.Gly390=) c.1062C>G (p.Gly354=) c.990C>G (p.Gly330=) c.1146C>G (p.Gly382=) c.831C>G (p.Gly277=) | |
6 | g.73610510G>T | CA450914768 | SLC17A5 | c.1149C>A (p.Gly383=) c.1098C>A (p.Gly366=) c.951C>A (p.Gly317=) c.1111+4805C>A (n.1111+4805C>A) c.918C>A (p.Gly306=) c.1170C>A (p.Gly390=) c.1062C>A (p.Gly354=) c.990C>A (p.Gly330=) c.1146C>A (p.Gly382=) c.831C>A (p.Gly277=) | |
6 | g.73610511C>A | CA364721133 | SLC17A5 | c.1148G>T (p.Gly383Val) c.1097G>T (p.Gly366Val) c.950G>T (p.Gly317Val) c.1111+4804G>T (n.1111+4804G>T) c.917G>T (p.Gly306Val) c.1169G>T (p.Gly390Val) c.1061G>T (p.Gly354Val) c.989G>T (p.Gly330Val) c.1145G>T (p.Gly382Val) c.830G>T (p.Gly277Val) | dbSNP |
6 | g.73610511C= | CA1638229773 | SLC17A5 | c.1148G= (p.Gly383=) c.1097G= (p.Gly366=) c.950G= (p.Gly317=) c.1111+4804G= (n.1111+4804G=) c.917G= (p.Gly306=) c.1169G= (p.Gly390=) c.1061G= (p.Gly354=) c.989G= (p.Gly330=) c.1145G= (p.Gly382=) c.830G= (p.Gly277=) | |
6 | g.73610511C>G | CA3890334 | SLC17A5 | c.1148G>C (p.Gly383Ala) c.1097G>C (p.Gly366Ala) c.950G>C (p.Gly317Ala) c.1111+4804G>C (n.1111+4804G>C) c.917G>C (p.Gly306Ala) c.1169G>C (p.Gly390Ala) c.1061G>C (p.Gly354Ala) c.989G>C (p.Gly330Ala) c.1145G>C (p.Gly382Ala) c.830G>C (p.Gly277Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73610511C>T | CA364721132 | SLC17A5 | c.1148G>A (p.Gly383Asp) c.1097G>A (p.Gly366Asp) c.950G>A (p.Gly317Asp) c.1111+4804G>A (n.1111+4804G>A) c.917G>A (p.Gly306Asp) c.1169G>A (p.Gly390Asp) c.1061G>A (p.Gly354Asp) c.989G>A (p.Gly330Asp) c.1145G>A (p.Gly382Asp) c.830G>A (p.Gly277Asp) | |
6 | g.73610512C>A | CA364721134 | SLC17A5 | c.1147G>T (p.Gly383Cys) c.1096G>T (p.Gly366Cys) c.949G>T (p.Gly317Cys) c.1111+4803G>T (n.1111+4803G>T) c.916G>T (p.Gly306Cys) c.1168G>T (p.Gly390Cys) c.1060G>T (p.Gly354Cys) c.988G>T (p.Gly330Cys) c.1144G>T (p.Gly382Cys) c.829G>T (p.Gly277Cys) | |
6 | g.73610512C>G | CA364721135 | SLC17A5 | c.1147G>C (p.Gly383Arg) c.1096G>C (p.Gly366Arg) c.949G>C (p.Gly317Arg) c.1111+4803G>C (n.1111+4803G>C) c.916G>C (p.Gly306Arg) c.1168G>C (p.Gly390Arg) c.1060G>C (p.Gly354Arg) c.988G>C (p.Gly330Arg) c.1144G>C (p.Gly382Arg) c.829G>C (p.Gly277Arg) | |
6 | g.73610512C>T | CA364721136 | SLC17A5 | c.1147G>A (p.Gly383Ser) c.1096G>A (p.Gly366Ser) c.949G>A (p.Gly317Ser) c.1111+4803G>A (n.1111+4803G>A) c.916G>A (p.Gly306Ser) c.1168G>A (p.Gly390Ser) c.1060G>A (p.Gly354Ser) c.988G>A (p.Gly330Ser) c.1144G>A (p.Gly382Ser) c.829G>A (p.Gly277Ser) | gnomAD v4 |
6 | g.73610513A= | CA1638229774 | SLC17A5 | c.1146T= (p.Ala382=) c.1095T= (p.Ala365=) c.948T= (p.Ala316=) c.1111+4802T= (n.1111+4802T=) c.915T= (p.Ala305=) c.1167T= (p.Ala389=) c.1059T= (p.Ala353=) c.987T= (p.Ala329=) c.1143T= (p.Ala381=) c.828T= (p.Ala276=) | |
6 | g.73610513A>C | CA450914773 | SLC17A5 | c.1146T>G (p.Ala382=) c.1095T>G (p.Ala365=) c.948T>G (p.Ala316=) c.1111+4802T>G (n.1111+4802T>G) c.915T>G (p.Ala305=) c.1167T>G (p.Ala389=) c.1059T>G (p.Ala353=) c.987T>G (p.Ala329=) c.1143T>G (p.Ala381=) c.828T>G (p.Ala276=) | |
6 | g.73610513A>G | CA140979157 | SLC17A5 | c.1146T>C (p.Ala382=) c.1095T>C (p.Ala365=) c.948T>C (p.Ala316=) c.1111+4802T>C (n.1111+4802T>C) c.915T>C (p.Ala305=) c.1167T>C (p.Ala389=) c.1059T>C (p.Ala353=) c.987T>C (p.Ala329=) c.1143T>C (p.Ala381=) c.828T>C (p.Ala276=) | dbSNP |
6 | g.73610513A>T | CA450914776 | SLC17A5 | c.1146T>A (p.Ala382=) c.1095T>A (p.Ala365=) c.948T>A (p.Ala316=) c.1111+4802T>A (n.1111+4802T>A) c.915T>A (p.Ala305=) c.1167T>A (p.Ala389=) c.1059T>A (p.Ala353=) c.987T>A (p.Ala329=) c.1143T>A (p.Ala381=) c.828T>A (p.Ala276=) | |
6 | g.73610514G>A | CA364721137 | SLC17A5 | c.1145C>T (p.Ala382Val) c.1094C>T (p.Ala365Val) c.947C>T (p.Ala316Val) c.1111+4801C>T (n.1111+4801C>T) c.914C>T (p.Ala305Val) c.1166C>T (p.Ala389Val) c.1058C>T (p.Ala353Val) c.986C>T (p.Ala329Val) c.1142C>T (p.Ala381Val) c.827C>T (p.Ala276Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73610514G>C | CA364721138 | SLC17A5 | c.1145C>G (p.Ala382Gly) c.1094C>G (p.Ala365Gly) c.947C>G (p.Ala316Gly) c.1111+4801C>G (n.1111+4801C>G) c.914C>G (p.Ala305Gly) c.1166C>G (p.Ala389Gly) c.1058C>G (p.Ala353Gly) c.986C>G (p.Ala329Gly) c.1142C>G (p.Ala381Gly) c.827C>G (p.Ala276Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73610514G= | CA1638229775 | SLC17A5 | c.1145C= (p.Ala382=) c.1094C= (p.Ala365=) c.947C= (p.Ala316=) c.1111+4801C= (n.1111+4801C=) c.914C= (p.Ala305=) c.1166C= (p.Ala389=) c.1058C= (p.Ala353=) c.986C= (p.Ala329=) c.1142C= (p.Ala381=) c.827C= (p.Ala276=) | |
6 | g.73610514G>T | CA364721139 | SLC17A5 | c.1145C>A (p.Ala382Asp) c.1094C>A (p.Ala365Asp) c.947C>A (p.Ala316Asp) c.1111+4801C>A (n.1111+4801C>A) c.914C>A (p.Ala305Asp) c.1166C>A (p.Ala389Asp) c.1058C>A (p.Ala353Asp) c.986C>A (p.Ala329Asp) c.1142C>A (p.Ala381Asp) c.827C>A (p.Ala276Asp) | COSMIC |
6 | g.73610515C>A | CA364721140 | SLC17A5 | c.1144G>T (p.Ala382Ser) c.1093G>T (p.Ala365Ser) c.946G>T (p.Ala316Ser) c.1111+4800G>T (n.1111+4800G>T) c.913G>T (p.Ala305Ser) c.1165G>T (p.Ala389Ser) c.1057G>T (p.Ala353Ser) c.985G>T (p.Ala329Ser) c.1141G>T (p.Ala381Ser) c.826G>T (p.Ala276Ser) | |
6 | g.73610515C>G | CA364721142 | SLC17A5 | c.1144G>C (p.Ala382Pro) c.1093G>C (p.Ala365Pro) c.946G>C (p.Ala316Pro) c.1111+4800G>C (n.1111+4800G>C) c.913G>C (p.Ala305Pro) c.1165G>C (p.Ala389Pro) c.1057G>C (p.Ala353Pro) c.985G>C (p.Ala329Pro) c.1141G>C (p.Ala381Pro) c.826G>C (p.Ala276Pro) | |
6 | g.73610515C>T | CA364721141 | SLC17A5 | c.1144G>A (p.Ala382Thr) c.1093G>A (p.Ala365Thr) c.946G>A (p.Ala316Thr) c.1111+4800G>A (n.1111+4800G>A) c.913G>A (p.Ala305Thr) c.1165G>A (p.Ala389Thr) c.1057G>A (p.Ala353Thr) c.985G>A (p.Ala329Thr) c.1141G>A (p.Ala381Thr) c.826G>A (p.Ala276Thr) | gnomAD v4 |
6 | g.73610516del | CA2679403541 | SLC17A5 | c.1143del (p.Ala382LeufsTer15) c.1092del (p.Ala365LeufsTer15) c.945del (p.Ala316LeufsTer15) c.1111+4799del (n.1111+4799del) c.912del (p.Ala305LeufsTer15) c.1164del (p.Ala389LeufsTer15) c.1056del (p.Ala353LeufsTer15) c.984del (p.Ala329LeufsTer15) c.1140del (p.Ala381LeufsTer15) c.825del (p.Ala276LeufsTer15) | gnomAD v4 |
6 | g.73610516A>C | CA450914780 | SLC17A5 | c.1143T>G (p.Ala381=) c.1092T>G (p.Ala364=) c.945T>G (p.Ala315=) c.1111+4799T>G (n.1111+4799T>G) c.912T>G (p.Ala304=) c.1164T>G (p.Ala388=) c.1056T>G (p.Ala352=) c.984T>G (p.Ala328=) c.1140T>G (p.Ala380=) c.825T>G (p.Ala275=) | |
6 | g.73610516A>G | CA450914781 | SLC17A5 | c.1143T>C (p.Ala381=) c.1092T>C (p.Ala364=) c.945T>C (p.Ala315=) c.1111+4799T>C (n.1111+4799T>C) c.912T>C (p.Ala304=) c.1164T>C (p.Ala388=) c.1056T>C (p.Ala352=) c.984T>C (p.Ala328=) c.1140T>C (p.Ala380=) c.825T>C (p.Ala275=) | |
6 | g.73610516A>T | CA450914783 | SLC17A5 | c.1143T>A (p.Ala381=) c.1092T>A (p.Ala364=) c.945T>A (p.Ala315=) c.1111+4799T>A (n.1111+4799T>A) c.912T>A (p.Ala304=) c.1164T>A (p.Ala388=) c.1056T>A (p.Ala352=) c.984T>A (p.Ala328=) c.1140T>A (p.Ala380=) c.825T>A (p.Ala275=) | |
6 | g.73610517del | CA2679403542 | SLC17A5 | c.1142del (p.Ala381ValfsTer16) c.1091del (p.Ala364ValfsTer16) c.944del (p.Ala315ValfsTer16) c.1111+4798del (n.1111+4798del) c.911del (p.Ala304ValfsTer16) c.1163del (p.Ala388ValfsTer16) c.1055del (p.Ala352ValfsTer16) c.983del (p.Ala328ValfsTer16) c.1139del (p.Ala380ValfsTer16) c.824del (p.Ala275ValfsTer16) | gnomAD v4 |
6 | g.73610517G>A | CA364721143 | SLC17A5 | c.1142C>T (p.Ala381Val) c.1091C>T (p.Ala364Val) c.944C>T (p.Ala315Val) c.1111+4798C>T (n.1111+4798C>T) c.911C>T (p.Ala304Val) c.1163C>T (p.Ala388Val) c.1055C>T (p.Ala352Val) c.983C>T (p.Ala328Val) c.1139C>T (p.Ala380Val) c.824C>T (p.Ala275Val) | dbSNP |
6 | g.73610517G>C | CA364721144 | SLC17A5 | c.1142C>G (p.Ala381Gly) c.1091C>G (p.Ala364Gly) c.944C>G (p.Ala315Gly) c.1111+4798C>G (n.1111+4798C>G) c.911C>G (p.Ala304Gly) c.1163C>G (p.Ala388Gly) c.1055C>G (p.Ala352Gly) c.983C>G (p.Ala328Gly) c.1139C>G (p.Ala380Gly) c.824C>G (p.Ala275Gly) | |
6 | g.73610517G= | CA1638229776 | SLC17A5 | c.1142C= (p.Ala381=) c.1091C= (p.Ala364=) c.944C= (p.Ala315=) c.1111+4798C= (n.1111+4798C=) c.911C= (p.Ala304=) c.1163C= (p.Ala388=) c.1055C= (p.Ala352=) c.983C= (p.Ala328=) c.1139C= (p.Ala380=) c.824C= (p.Ala275=) | |
6 | g.73610517G>T | CA364721145 | SLC17A5 | c.1142C>A (p.Ala381Asp) c.1091C>A (p.Ala364Asp) c.944C>A (p.Ala315Asp) c.1111+4798C>A (n.1111+4798C>A) c.911C>A (p.Ala304Asp) c.1163C>A (p.Ala388Asp) c.1055C>A (p.Ala352Asp) c.983C>A (p.Ala328Asp) c.1139C>A (p.Ala380Asp) c.824C>A (p.Ala275Asp) | |
6 | g.73610518C>A | CA364721146 | SLC17A5 | c.1141G>T (p.Ala381Ser) c.1090G>T (p.Ala364Ser) c.943G>T (p.Ala315Ser) c.1111+4797G>T (n.1111+4797G>T) c.910G>T (p.Ala304Ser) c.1162G>T (p.Ala388Ser) c.1054G>T (p.Ala352Ser) c.982G>T (p.Ala328Ser) c.1138G>T (p.Ala380Ser) c.823G>T (p.Ala275Ser) | |
6 | g.73610518C= | CA1638229777 | SLC17A5 | c.1141G= (p.Ala381=) c.1090G= (p.Ala364=) c.943G= (p.Ala315=) c.1111+4797G= (n.1111+4797G=) c.910G= (p.Ala304=) c.1162G= (p.Ala388=) c.1054G= (p.Ala352=) c.982G= (p.Ala328=) c.1138G= (p.Ala380=) c.823G= (p.Ala275=) | |
6 | g.73610518C>G | CA364721147 | SLC17A5 | c.1141G>C (p.Ala381Pro) c.1090G>C (p.Ala364Pro) c.943G>C (p.Ala315Pro) c.1111+4797G>C (n.1111+4797G>C) c.910G>C (p.Ala304Pro) c.1162G>C (p.Ala388Pro) c.1054G>C (p.Ala352Pro) c.982G>C (p.Ala328Pro) c.1138G>C (p.Ala380Pro) c.823G>C (p.Ala275Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.73610518C>T | CA364721148 | SLC17A5 | c.1141G>A (p.Ala381Thr) c.1090G>A (p.Ala364Thr) c.943G>A (p.Ala315Thr) c.1111+4797G>A (n.1111+4797G>A) c.910G>A (p.Ala304Thr) c.1162G>A (p.Ala388Thr) c.1054G>A (p.Ala352Thr) c.982G>A (p.Ala328Thr) c.1138G>A (p.Ala380Thr) c.823G>A (p.Ala275Thr) | |
6 | g.73610519T>A | CA450914790 | SLC17A5 | c.1140A>T (p.Val380=) c.1089A>T (p.Val363=) c.942A>T (p.Val314=) c.1111+4796A>T (n.1111+4796A>T) c.909A>T (p.Val303=) c.1161A>T (p.Val387=) c.1053A>T (p.Val351=) c.981A>T (p.Val327=) c.1137A>T (p.Val379=) c.822A>T (p.Val274=) | |
6 | g.73610519T>C | CA450914792 | SLC17A5 | c.1140A>G (p.Val380=) c.1089A>G (p.Val363=) c.942A>G (p.Val314=) c.1111+4796A>G (n.1111+4796A>G) c.909A>G (p.Val303=) c.1161A>G (p.Val387=) c.1053A>G (p.Val351=) c.981A>G (p.Val327=) c.1137A>G (p.Val379=) c.822A>G (p.Val274=) | |
6 | g.73610519T>G | CA450914793 | SLC17A5 | c.1140A>C (p.Val380=) c.1089A>C (p.Val363=) c.942A>C (p.Val314=) c.1111+4796A>C (n.1111+4796A>C) c.909A>C (p.Val303=) c.1161A>C (p.Val387=) c.1053A>C (p.Val351=) c.981A>C (p.Val327=) c.1137A>C (p.Val379=) c.822A>C (p.Val274=) | ClinVar dbSNP gnomAD v4 |
6 | g.73610519_73610521delinsTAC | CA1638229778 | SLC17A5 | c.1138_1140delinsGTA (p.Val380=) c.1087_1089delinsGTA (p.Val363=) c.940_942delinsGTA (p.Val314=) c.1111+4794_1111+4796delinsGTA (n.1111+4794_1111+4796delinsGTA) c.907_909delinsGTA (p.Val303=) c.1159_1161delinsGTA (p.Val387=) c.1051_1053delinsGTA (p.Val351=) c.979_981delinsGTA (p.Val327=) c.1135_1137delinsGTA (p.Val379=) c.820_822delinsGTA (p.Val274=) | |
6 | g.73610520A>C | CA364721149 | SLC17A5 | c.1139T>G (p.Val380Gly) c.1088T>G (p.Val363Gly) c.941T>G (p.Val314Gly) c.1111+4795T>G (n.1111+4795T>G) c.908T>G (p.Val303Gly) c.1160T>G (p.Val387Gly) c.1052T>G (p.Val351Gly) c.980T>G (p.Val327Gly) c.1136T>G (p.Val379Gly) c.821T>G (p.Val274Gly) | |
6 | g.73610520A>G | CA364721150 | SLC17A5 | c.1139T>C (p.Val380Ala) c.1088T>C (p.Val363Ala) c.941T>C (p.Val314Ala) c.1111+4795T>C (n.1111+4795T>C) c.908T>C (p.Val303Ala) c.1160T>C (p.Val387Ala) c.1052T>C (p.Val351Ala) c.980T>C (p.Val327Ala) c.1136T>C (p.Val379Ala) c.821T>C (p.Val274Ala) | |
6 | g.73610520A>T | CA364721151 | SLC17A5 | c.1139T>A (p.Val380Glu) c.1088T>A (p.Val363Glu) c.941T>A (p.Val314Glu) c.1111+4795T>A (n.1111+4795T>A) c.908T>A (p.Val303Glu) c.1160T>A (p.Val387Glu) c.1052T>A (p.Val351Glu) c.980T>A (p.Val327Glu) c.1136T>A (p.Val379Glu) c.821T>A (p.Val274Glu) | |
6 | g.73610520_73610521del | CA263920 | SLC17A5 | c.1138_1139del (p.Val380SerfsTer8) c.1087_1088del (p.Val363SerfsTer8) c.940_941del (p.Val314SerfsTer8) c.1111+4794_1111+4795del (n.1111+4794_1111+4795del) c.907_908del (p.Val303SerfsTer8) c.1159_1160del (p.Val387SerfsTer8) c.1051_1052del (p.Val351SerfsTer8) c.979_980del (p.Val327SerfsTer8) c.1135_1136del (p.Val379SerfsTer8) c.820_821del (p.Val274SerfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73610521C>A | CA364721154 | SLC17A5 | c.1138G>T (p.Val380Leu) c.1087G>T (p.Val363Leu) c.940G>T (p.Val314Leu) c.1111+4794G>T (n.1111+4794G>T) c.907G>T (p.Val303Leu) c.1159G>T (p.Val387Leu) c.1051G>T (p.Val351Leu) c.979G>T (p.Val327Leu) c.1135G>T (p.Val379Leu) c.820G>T (p.Val274Leu) | |
6 | g.73610521C= | CA1638229779 | SLC17A5 | c.1138G= (p.Val380=) c.1087G= (p.Val363=) c.940G= (p.Val314=) c.1111+4794G= (n.1111+4794G=) c.907G= (p.Val303=) c.1159G= (p.Val387=) c.1051G= (p.Val351=) c.979G= (p.Val327=) c.1135G= (p.Val379=) c.820G= (p.Val274=) | |
6 | g.73610521C>G | CA364721153 | SLC17A5 | c.1138G>C (p.Val380Leu) c.1087G>C (p.Val363Leu) c.940G>C (p.Val314Leu) c.1111+4794G>C (n.1111+4794G>C) c.907G>C (p.Val303Leu) c.1159G>C (p.Val387Leu) c.1051G>C (p.Val351Leu) c.979G>C (p.Val327Leu) c.1135G>C (p.Val379Leu) c.820G>C (p.Val274Leu) | |
6 | g.73610521C>T | CA3890335 | SLC17A5 | c.1138G>A (p.Val380Ile) c.1087G>A (p.Val363Ile) c.940G>A (p.Val314Ile) c.1111+4794G>A (n.1111+4794G>A) c.907G>A (p.Val303Ile) c.1159G>A (p.Val387Ile) c.1051G>A (p.Val351Ile) c.979G>A (p.Val327Ile) c.1135G>A (p.Val379Ile) c.820G>A (p.Val274Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73610521_73610522del | CA364721152 | SLC17A5 | c.1137_1138del (p.Val380SerfsTer8) c.1086_1087del (p.Val363SerfsTer8) c.939_940del (p.Val314SerfsTer8) c.1111+4793_1111+4794del (n.1111+4793_1111+4794del) c.906_907del (p.Val303SerfsTer8) c.1158_1159del (p.Val387SerfsTer8) c.1050_1051del (p.Val351SerfsTer8) c.978_979del (p.Val327SerfsTer8) c.1134_1135del (p.Val379SerfsTer8) c.819_820del (p.Val274SerfsTer8) | |
6 | g.73610522C>A | CA450914800 | SLC17A5 | c.1137G>T (p.Leu379=) c.1086G>T (p.Leu362=) c.939G>T (p.Leu313=) c.1111+4793G>T (n.1111+4793G>T) c.906G>T (p.Leu302=) c.1158G>T (p.Leu386=) c.1050G>T (p.Leu350=) c.978G>T (p.Leu326=) c.1134G>T (p.Leu378=) c.819G>T (p.Leu273=) | |
6 | g.73610522C= | CA1638229780 | SLC17A5 | c.1137G= (p.Leu379=) c.1086G= (p.Leu362=) c.939G= (p.Leu313=) c.1111+4793G= (n.1111+4793G=) c.906G= (p.Leu302=) c.1158G= (p.Leu386=) c.1050G= (p.Leu350=) c.978G= (p.Leu326=) c.1134G= (p.Leu378=) c.819G= (p.Leu273=) | |
6 | g.73610522C>G | CA450914799 | SLC17A5 | c.1137G>C (p.Leu379=) c.1086G>C (p.Leu362=) c.939G>C (p.Leu313=) c.1111+4793G>C (n.1111+4793G>C) c.906G>C (p.Leu302=) c.1158G>C (p.Leu386=) c.1050G>C (p.Leu350=) c.978G>C (p.Leu326=) c.1134G>C (p.Leu378=) c.819G>C (p.Leu273=) | ClinVar |
6 | g.73610522C>T | CA450914798 | SLC17A5 | c.1137G>A (p.Leu379=) c.1086G>A (p.Leu362=) c.939G>A (p.Leu313=) c.1111+4793G>A (n.1111+4793G>A) c.906G>A (p.Leu302=) c.1158G>A (p.Leu386=) c.1050G>A (p.Leu350=) c.978G>A (p.Leu326=) c.1134G>A (p.Leu378=) c.819G>A (p.Leu273=) | ClinVar dbSNP COSMIC |
6 | g.73610523A= | CA1638229781 | SLC17A5 | c.1136T= (p.Leu379=) c.1085T= (p.Leu362=) c.938T= (p.Leu313=) c.1111+4792T= (n.1111+4792T=) c.905T= (p.Leu302=) c.1157T= (p.Leu386=) c.1049T= (p.Leu350=) c.977T= (p.Leu326=) c.1133T= (p.Leu378=) c.818T= (p.Leu273=) | |
6 | g.73610523A>C | CA364721155 | SLC17A5 | c.1136T>G (p.Leu379Arg) c.1085T>G (p.Leu362Arg) c.938T>G (p.Leu313Arg) c.1111+4792T>G (n.1111+4792T>G) c.905T>G (p.Leu302Arg) c.1157T>G (p.Leu386Arg) c.1049T>G (p.Leu350Arg) c.977T>G (p.Leu326Arg) c.1133T>G (p.Leu378Arg) c.818T>G (p.Leu273Arg) | |
6 | g.73610523A>G | CA364721156 | SLC17A5 | c.1136T>C (p.Leu379Pro) c.1085T>C (p.Leu362Pro) c.938T>C (p.Leu313Pro) c.1111+4792T>C (n.1111+4792T>C) c.905T>C (p.Leu302Pro) c.1157T>C (p.Leu386Pro) c.1049T>C (p.Leu350Pro) c.977T>C (p.Leu326Pro) c.1133T>C (p.Leu378Pro) c.818T>C (p.Leu273Pro) | |
6 | g.73610523A>T | CA3890336 | SLC17A5 | c.1136T>A (p.Leu379Gln) c.1085T>A (p.Leu362Gln) c.938T>A (p.Leu313Gln) c.1111+4792T>A (n.1111+4792T>A) c.905T>A (p.Leu302Gln) c.1157T>A (p.Leu386Gln) c.1049T>A (p.Leu350Gln) c.977T>A (p.Leu326Gln) c.1133T>A (p.Leu378Gln) c.818T>A (p.Leu273Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73610524G>A | CA450914805 | SLC17A5 | c.1135C>T (p.Leu379=) c.1084C>T (p.Leu362=) c.937C>T (p.Leu313=) c.1111+4791C>T (n.1111+4791C>T) c.904C>T (p.Leu302=) c.1156C>T (p.Leu386=) c.1048C>T (p.Leu350=) c.976C>T (p.Leu326=) c.1132C>T (p.Leu378=) c.817C>T (p.Leu273=) | |
6 | g.73610524G>C | CA364721157 | SLC17A5 | c.1135C>G (p.Leu379Val) c.1084C>G (p.Leu362Val) c.937C>G (p.Leu313Val) c.1111+4791C>G (n.1111+4791C>G) c.904C>G (p.Leu302Val) c.1156C>G (p.Leu386Val) c.1048C>G (p.Leu350Val) c.976C>G (p.Leu326Val) c.1132C>G (p.Leu378Val) c.817C>G (p.Leu273Val) | |
6 | g.73610524G>T | CA364721158 | SLC17A5 | c.1135C>A (p.Leu379Met) c.1084C>A (p.Leu362Met) c.937C>A (p.Leu313Met) c.1111+4791C>A (n.1111+4791C>A) c.904C>A (p.Leu302Met) c.1156C>A (p.Leu386Met) c.1048C>A (p.Leu350Met) c.976C>A (p.Leu326Met) c.1132C>A (p.Leu378Met) c.817C>A (p.Leu273Met) | |
6 | g.73610525G>A | CA450914806 | SLC17A5 | c.1134C>T (p.Phe378=) c.1083C>T (p.Phe361=) c.936C>T (p.Phe312=) c.1111+4790C>T (n.1111+4790C>T) c.903C>T (p.Phe301=) c.1155C>T (p.Phe385=) c.1047C>T (p.Phe349=) c.975C>T (p.Phe325=) c.1131C>T (p.Phe377=) c.816C>T (p.Phe272=) | gnomAD v4 |
6 | g.73610525G>C | CA364721160 | SLC17A5 | c.1134C>G (p.Phe378Leu) c.1083C>G (p.Phe361Leu) c.936C>G (p.Phe312Leu) c.1111+4790C>G (n.1111+4790C>G) c.903C>G (p.Phe301Leu) c.1155C>G (p.Phe385Leu) c.1047C>G (p.Phe349Leu) c.975C>G (p.Phe325Leu) c.1131C>G (p.Phe377Leu) c.816C>G (p.Phe272Leu) | |
6 | g.73610525G>T | CA364721159 | SLC17A5 | c.1134C>A (p.Phe378Leu) c.1083C>A (p.Phe361Leu) c.936C>A (p.Phe312Leu) c.1111+4790C>A (n.1111+4790C>A) c.903C>A (p.Phe301Leu) c.1155C>A (p.Phe385Leu) c.1047C>A (p.Phe349Leu) c.975C>A (p.Phe325Leu) c.1131C>A (p.Phe377Leu) c.816C>A (p.Phe272Leu) | |
6 | g.73610526A>C | CA364721161 | SLC17A5 | c.1133T>G (p.Phe378Cys) c.1082T>G (p.Phe361Cys) c.935T>G (p.Phe312Cys) c.1111+4789T>G (n.1111+4789T>G) c.902T>G (p.Phe301Cys) c.1154T>G (p.Phe385Cys) c.1046T>G (p.Phe349Cys) c.974T>G (p.Phe325Cys) c.1130T>G (p.Phe377Cys) c.815T>G (p.Phe272Cys) | |
6 | g.73610526A>G | CA364721162 | SLC17A5 | c.1133T>C (p.Phe378Ser) c.1082T>C (p.Phe361Ser) c.935T>C (p.Phe312Ser) c.1111+4789T>C (n.1111+4789T>C) c.902T>C (p.Phe301Ser) c.1154T>C (p.Phe385Ser) c.1046T>C (p.Phe349Ser) c.974T>C (p.Phe325Ser) c.1130T>C (p.Phe377Ser) c.815T>C (p.Phe272Ser) | |
6 | g.73610526A>T | CA364721163 | SLC17A5 | c.1133T>A (p.Phe378Tyr) c.1082T>A (p.Phe361Tyr) c.935T>A (p.Phe312Tyr) c.1111+4789T>A (n.1111+4789T>A) c.902T>A (p.Phe301Tyr) c.1154T>A (p.Phe385Tyr) c.1046T>A (p.Phe349Tyr) c.974T>A (p.Phe325Tyr) c.1130T>A (p.Phe377Tyr) c.815T>A (p.Phe272Tyr) | |
6 | g.73610527A>C | CA364721164 | SLC17A5 | c.1132T>G (p.Phe378Val) c.1081T>G (p.Phe361Val) c.934T>G (p.Phe312Val) c.1111+4788T>G (n.1111+4788T>G) c.901T>G (p.Phe301Val) c.1153T>G (p.Phe385Val) c.1045T>G (p.Phe349Val) c.973T>G (p.Phe325Val) c.1129T>G (p.Phe377Val) c.814T>G (p.Phe272Val) | |
6 | g.73610527A>G | CA364721165 | SLC17A5 | c.1132T>C (p.Phe378Leu) c.1081T>C (p.Phe361Leu) c.934T>C (p.Phe312Leu) c.1111+4788T>C (n.1111+4788T>C) c.901T>C (p.Phe301Leu) c.1153T>C (p.Phe385Leu) c.1045T>C (p.Phe349Leu) c.973T>C (p.Phe325Leu) c.1129T>C (p.Phe377Leu) c.814T>C (p.Phe272Leu) | COSMIC |
6 | g.73610527A>T | CA364721166 | SLC17A5 | c.1132T>A (p.Phe378Ile) c.1081T>A (p.Phe361Ile) c.934T>A (p.Phe312Ile) c.1111+4788T>A (n.1111+4788T>A) c.901T>A (p.Phe301Ile) c.1153T>A (p.Phe385Ile) c.1045T>A (p.Phe349Ile) c.973T>A (p.Phe325Ile) c.1129T>A (p.Phe377Ile) c.814T>A (p.Phe272Ile) | |
6 | g.73610528T>A | CA450914815 | SLC17A5 | c.1131A>T (p.Val377=) c.1080A>T (p.Val360=) c.933A>T (p.Val311=) c.1111+4787A>T (n.1111+4787A>T) c.900A>T (p.Val300=) c.1152A>T (p.Val384=) c.1044A>T (p.Val348=) c.972A>T (p.Val324=) c.1128A>T (p.Val376=) c.813A>T (p.Val271=) | ClinVar |
6 | g.73610528T>C | CA450914817 | SLC17A5 | c.1131A>G (p.Val377=) c.1080A>G (p.Val360=) c.933A>G (p.Val311=) c.1111+4787A>G (n.1111+4787A>G) c.900A>G (p.Val300=) c.1152A>G (p.Val384=) c.1044A>G (p.Val348=) c.972A>G (p.Val324=) c.1128A>G (p.Val376=) c.813A>G (p.Val271=) | ClinVar dbSNP |
6 | g.73610528T>G | CA450914819 | SLC17A5 | c.1131A>C (p.Val377=) c.1080A>C (p.Val360=) c.933A>C (p.Val311=) c.1111+4787A>C (n.1111+4787A>C) c.900A>C (p.Val300=) c.1152A>C (p.Val384=) c.1044A>C (p.Val348=) c.972A>C (p.Val324=) c.1128A>C (p.Val376=) c.813A>C (p.Val271=) | |
6 | g.73610529A>C | CA364721167 | SLC17A5 | c.1130T>G (p.Val377Gly) c.1079T>G (p.Val360Gly) c.932T>G (p.Val311Gly) c.1111+4786T>G (n.1111+4786T>G) c.899T>G (p.Val300Gly) c.1151T>G (p.Val384Gly) c.1043T>G (p.Val348Gly) c.971T>G (p.Val324Gly) c.1127T>G (p.Val376Gly) c.812T>G (p.Val271Gly) | |
6 | g.73610529A>G | CA364721169 | SLC17A5 | c.1130T>C (p.Val377Ala) c.1079T>C (p.Val360Ala) c.932T>C (p.Val311Ala) c.1111+4786T>C (n.1111+4786T>C) c.899T>C (p.Val300Ala) c.1151T>C (p.Val384Ala) c.1043T>C (p.Val348Ala) c.971T>C (p.Val324Ala) c.1127T>C (p.Val376Ala) c.812T>C (p.Val271Ala) | |
6 | g.73610529A>T | CA364721168 | SLC17A5 | c.1130T>A (p.Val377Glu) c.1079T>A (p.Val360Glu) c.932T>A (p.Val311Glu) c.1111+4786T>A (n.1111+4786T>A) c.899T>A (p.Val300Glu) c.1151T>A (p.Val384Glu) c.1043T>A (p.Val348Glu) c.971T>A (p.Val324Glu) c.1127T>A (p.Val376Glu) c.812T>A (p.Val271Glu) | |
6 | g.73610530C>A | CA364721170 | SLC17A5 | c.1129G>T (p.Val377Leu) c.1078G>T (p.Val360Leu) c.931G>T (p.Val311Leu) c.1111+4785G>T (n.1111+4785G>T) c.898G>T (p.Val300Leu) c.1150G>T (p.Val384Leu) c.1042G>T (p.Val348Leu) c.970G>T (p.Val324Leu) c.1126G>T (p.Val376Leu) c.811G>T (p.Val271Leu) | |
6 | g.73610530C>G | CA364721171 | SLC17A5 | c.1129G>C (p.Val377Leu) c.1078G>C (p.Val360Leu) c.931G>C (p.Val311Leu) c.1111+4785G>C (n.1111+4785G>C) c.898G>C (p.Val300Leu) c.1150G>C (p.Val384Leu) c.1042G>C (p.Val348Leu) c.970G>C (p.Val324Leu) c.1126G>C (p.Val376Leu) c.811G>C (p.Val271Leu) | |
6 | g.73610530C>T | CA364721172 | SLC17A5 | c.1129G>A (p.Val377Ile) c.1078G>A (p.Val360Ile) c.931G>A (p.Val311Ile) c.1111+4785G>A (n.1111+4785G>A) c.898G>A (p.Val300Ile) c.1150G>A (p.Val384Ile) c.1042G>A (p.Val348Ile) c.970G>A (p.Val324Ile) c.1126G>A (p.Val376Ile) c.811G>A (p.Val271Ile) | |
6 | g.73610531T>A | CA450914824 | SLC17A5 | c.1128A>T (p.Ala376=) c.1077A>T (p.Ala359=) c.930A>T (p.Ala310=) c.1111+4784A>T (n.1111+4784A>T) c.897A>T (p.Ala299=) c.1149A>T (p.Ala383=) c.1041A>T (p.Ala347=) c.969A>T (p.Ala323=) c.1125A>T (p.Ala375=) c.810A>T (p.Ala270=) | |
6 | g.73610531T>C | CA450914826 | SLC17A5 | c.1128A>G (p.Ala376=) c.1077A>G (p.Ala359=) c.930A>G (p.Ala310=) c.1111+4784A>G (n.1111+4784A>G) c.897A>G (p.Ala299=) c.1149A>G (p.Ala383=) c.1041A>G (p.Ala347=) c.969A>G (p.Ala323=) c.1125A>G (p.Ala375=) c.810A>G (p.Ala270=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73610531T>G | CA450914827 | SLC17A5 | c.1128A>C (p.Ala376=) c.1077A>C (p.Ala359=) c.930A>C (p.Ala310=) c.1111+4784A>C (n.1111+4784A>C) c.897A>C (p.Ala299=) c.1149A>C (p.Ala383=) c.1041A>C (p.Ala347=) c.969A>C (p.Ala323=) c.1125A>C (p.Ala375=) c.810A>C (p.Ala270=) | |
6 | g.73610531T= | CA1638229783 | SLC17A5 | c.1128A= (p.Ala376=) c.1077A= (p.Ala359=) c.930A= (p.Ala310=) c.1111+4784A= (n.1111+4784A=) c.897A= (p.Ala299=) c.1149A= (p.Ala383=) c.1041A= (p.Ala347=) c.969A= (p.Ala323=) c.1125A= (p.Ala375=) c.810A= (p.Ala270=) | |
6 | g.73610531_73610532delinsTG | CA1638229782 | SLC17A5 | c.1127_1128delinsCA (p.Ala376=) c.1076_1077delinsCA (p.Ala359=) c.929_930delinsCA (p.Ala310=) c.1111+4783_1111+4784delinsCA (n.1111+4783_1111+4784delinsCA) c.896_897delinsCA (p.Ala299=) c.1148_1149delinsCA (p.Ala383=) c.1040_1041delinsCA (p.Ala347=) c.968_969delinsCA (p.Ala323=) c.1124_1125delinsCA (p.Ala375=) c.809_810delinsCA (p.Ala270=) | |
6 | g.73610532del | CA16041078 | SLC17A5 | c.1127del (p.Ala376GlufsTer5) c.1076del (p.Ala359GlufsTer5) c.929del (p.Ala310GlufsTer5) c.1111+4783del (n.1111+4783del) c.896del (p.Ala299GlufsTer5) c.1148del (p.Ala383GlufsTer5) c.1040del (p.Ala347GlufsTer5) c.968del (p.Ala323GlufsTer5) c.1124del (p.Ala375GlufsTer5) c.809del (p.Ala270GlufsTer5) | ClinVar dbSNP |
6 | g.73610532G>A | CA364721173 | SLC17A5 | c.1127C>T (p.Ala376Val) c.1076C>T (p.Ala359Val) c.929C>T (p.Ala310Val) c.1111+4783C>T (n.1111+4783C>T) c.896C>T (p.Ala299Val) c.1148C>T (p.Ala383Val) c.1040C>T (p.Ala347Val) c.968C>T (p.Ala323Val) c.1124C>T (p.Ala375Val) c.809C>T (p.Ala270Val) | |
6 | g.73610532G>C | CA364721174 | SLC17A5 | c.1127C>G (p.Ala376Gly) c.1076C>G (p.Ala359Gly) c.929C>G (p.Ala310Gly) c.1111+4783C>G (n.1111+4783C>G) c.896C>G (p.Ala299Gly) c.1148C>G (p.Ala383Gly) c.1040C>G (p.Ala347Gly) c.968C>G (p.Ala323Gly) c.1124C>G (p.Ala375Gly) c.809C>G (p.Ala270Gly) | |
6 | g.73610532G>T | CA364721175 | SLC17A5 | c.1127C>A (p.Ala376Glu) c.1076C>A (p.Ala359Glu) c.929C>A (p.Ala310Glu) c.1111+4783C>A (n.1111+4783C>A) c.896C>A (p.Ala299Glu) c.1148C>A (p.Ala383Glu) c.1040C>A (p.Ala347Glu) c.968C>A (p.Ala323Glu) c.1124C>A (p.Ala375Glu) c.809C>A (p.Ala270Glu) | |
6 | g.73610533C>A | CA364721176 | SLC17A5 | c.1126G>T (p.Ala376Ser) c.1075G>T (p.Ala359Ser) c.928G>T (p.Ala310Ser) c.1111+4782G>T (n.1111+4782G>T) c.895G>T (p.Ala299Ser) c.1147G>T (p.Ala383Ser) c.1039G>T (p.Ala347Ser) c.967G>T (p.Ala323Ser) c.1123G>T (p.Ala375Ser) c.808G>T (p.Ala270Ser) | |
6 | g.73610533C>G | CA364721177 | SLC17A5 | c.1126G>C (p.Ala376Pro) c.1075G>C (p.Ala359Pro) c.928G>C (p.Ala310Pro) c.1111+4782G>C (n.1111+4782G>C) c.895G>C (p.Ala299Pro) c.1147G>C (p.Ala383Pro) c.1039G>C (p.Ala347Pro) c.967G>C (p.Ala323Pro) c.1123G>C (p.Ala375Pro) c.808G>C (p.Ala270Pro) | |
6 | g.73610533C>T | CA364721178 | SLC17A5 | c.1126G>A (p.Ala376Thr) c.1075G>A (p.Ala359Thr) c.928G>A (p.Ala310Thr) c.1111+4782G>A (n.1111+4782G>A) c.895G>A (p.Ala299Thr) c.1147G>A (p.Ala383Thr) c.1039G>A (p.Ala347Thr) c.967G>A (p.Ala323Thr) c.1123G>A (p.Ala375Thr) c.808G>A (p.Ala270Thr) | |
6 | g.73610534A>C | CA450914834 | SLC17A5 | c.1125T>G (p.Pro375=) c.1074T>G (p.Pro358=) c.927T>G (p.Pro309=) c.1111+4781T>G (n.1111+4781T>G) c.894T>G (p.Pro298=) c.1146T>G (p.Pro382=) c.1038T>G (p.Pro346=) c.966T>G (p.Pro322=) c.1122T>G (p.Pro374=) c.807T>G (p.Pro269=) | |
6 | g.73610534A>G | CA450914835 | SLC17A5 | c.1125T>C (p.Pro375=) c.1074T>C (p.Pro358=) c.927T>C (p.Pro309=) c.1111+4781T>C (n.1111+4781T>C) c.894T>C (p.Pro298=) c.1146T>C (p.Pro382=) c.1038T>C (p.Pro346=) c.966T>C (p.Pro322=) c.1122T>C (p.Pro374=) c.807T>C (p.Pro269=) | |
6 | g.73610534A>T | CA450914833 | SLC17A5 | c.1125T>A (p.Pro375=) c.1074T>A (p.Pro358=) c.927T>A (p.Pro309=) c.1111+4781T>A (n.1111+4781T>A) c.894T>A (p.Pro298=) c.1146T>A (p.Pro382=) c.1038T>A (p.Pro346=) c.966T>A (p.Pro322=) c.1122T>A (p.Pro374=) c.807T>A (p.Pro269=) |