| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73600350C>A | CA364719922 | SLC17A5 | c.1350+1G>T (n.1350+1G>T) c.1299+1G>T (n.1299+1G>T) c.1152+1G>T (n.1152+1G>T) c.*8+1G>T (n.*8+1G>T) c.1119+1G>T (n.1119+1G>T) c.1260-5136G>T (n.1260-5136G>T) c.1371+1G>T (n.1371+1G>T) c.1263+1G>T (n.1263+1G>T) c.1191+1G>T (n.1191+1G>T) c.1347+1G>T (n.1347+1G>T) c.1032+1G>T (n.1032+1G>T) | |
| 6 | g.73600350C= | CA1638223790 | SLC17A5 | c.1350+1G= (n.1350+1G=) c.1299+1G= (n.1299+1G=) c.1152+1G= (n.1152+1G=) c.*8+1G= (n.*8+1G=) c.1119+1G= (n.1119+1G=) c.1260-5136G= (n.1260-5136G=) c.1371+1G= (n.1371+1G=) c.1263+1G= (n.1263+1G=) c.1191+1G= (n.1191+1G=) c.1347+1G= (n.1347+1G=) c.1032+1G= (n.1032+1G=) | |
| 6 | g.73600350C>G | CA364719921 | SLC17A5 | c.1350+1G>C (n.1350+1G>C) c.1299+1G>C (n.1299+1G>C) c.1152+1G>C (n.1152+1G>C) c.*8+1G>C (n.*8+1G>C) c.1119+1G>C (n.1119+1G>C) c.1260-5136G>C (n.1260-5136G>C) c.1371+1G>C (n.1371+1G>C) c.1263+1G>C (n.1263+1G>C) c.1191+1G>C (n.1191+1G>C) c.1347+1G>C (n.1347+1G>C) c.1032+1G>C (n.1032+1G>C) | |
| 6 | g.73600350C>T | CA16041076 | SLC17A5 | c.1350+1G>A (n.1350+1G>A) c.1299+1G>A (n.1299+1G>A) c.1152+1G>A (n.1152+1G>A) c.*8+1G>A (n.*8+1G>A) c.1119+1G>A (n.1119+1G>A) c.1260-5136G>A (n.1260-5136G>A) c.1371+1G>A (n.1371+1G>A) c.1263+1G>A (n.1263+1G>A) c.1191+1G>A (n.1191+1G>A) c.1347+1G>A (n.1347+1G>A) c.1032+1G>A (n.1032+1G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73600351A>C | CA364719923 | SLC17A5 | c.1350T>G (p.Asp450Glu) c.1299T>G (p.Asp433Glu) c.1152T>G (p.Asp384Glu) c.*8T>G (n.*8T>G) c.1119T>G (p.Asp373Glu) c.1260-5137T>G (n.1260-5137T>G) c.1371T>G (p.Asp457Glu) c.1263T>G (p.Asp421Glu) c.1191T>G (p.Asp397Glu) c.1347T>G (p.Asp449Glu) c.1032T>G (p.Asp344Glu) | |
| 6 | g.73600351A>G | CA450912518 | SLC17A5 | c.1350T>C (p.Asp450=) c.1299T>C (p.Asp433=) c.1152T>C (p.Asp384=) c.*8T>C (n.*8T>C) c.1119T>C (p.Asp373=) c.1260-5137T>C (n.1260-5137T>C) c.1371T>C (p.Asp457=) c.1263T>C (p.Asp421=) c.1191T>C (p.Asp397=) c.1347T>C (p.Asp449=) c.1032T>C (p.Asp344=) | |
| 6 | g.73600351A>T | CA364719924 | SLC17A5 | c.1350T>A (p.Asp450Glu) c.1299T>A (p.Asp433Glu) c.1152T>A (p.Asp384Glu) c.*8T>A (n.*8T>A) c.1119T>A (p.Asp373Glu) c.1260-5137T>A (n.1260-5137T>A) c.1371T>A (p.Asp457Glu) c.1263T>A (p.Asp421Glu) c.1191T>A (p.Asp397Glu) c.1347T>A (p.Asp449Glu) c.1032T>A (p.Asp344Glu) | gnomAD v4 |
| 6 | g.73600352T>A | CA140972055 | SLC17A5 | c.1349A>T (p.Asp450Val) c.1298A>T (p.Asp433Val) c.1151A>T (p.Asp384Val) c.*7A>T (n.*7A>T) c.1118A>T (p.Asp373Val) c.1260-5138A>T (n.1260-5138A>T) c.1370A>T (p.Asp457Val) c.1262A>T (p.Asp421Val) c.1190A>T (p.Asp397Val) c.1346A>T (p.Asp449Val) c.1031A>T (p.Asp344Val) | dbSNP gnomAD v4 |
| 6 | g.73600352T>C | CA364719925 | SLC17A5 | c.1349A>G (p.Asp450Gly) c.1298A>G (p.Asp433Gly) c.1151A>G (p.Asp384Gly) c.*7A>G (n.*7A>G) c.1118A>G (p.Asp373Gly) c.1260-5138A>G (n.1260-5138A>G) c.1370A>G (p.Asp457Gly) c.1262A>G (p.Asp421Gly) c.1190A>G (p.Asp397Gly) c.1346A>G (p.Asp449Gly) c.1031A>G (p.Asp344Gly) | ClinVar |
| 6 | g.73600352T>G | CA364719926 | SLC17A5 | c.1349A>C (p.Asp450Ala) c.1298A>C (p.Asp433Ala) c.1151A>C (p.Asp384Ala) c.*7A>C (n.*7A>C) c.1118A>C (p.Asp373Ala) c.1260-5138A>C (n.1260-5138A>C) c.1370A>C (p.Asp457Ala) c.1262A>C (p.Asp421Ala) c.1190A>C (p.Asp397Ala) c.1346A>C (p.Asp449Ala) c.1031A>C (p.Asp344Ala) | |
| 6 | g.73600352T= | CA1638223799 | SLC17A5 | c.1349A= (p.Asp450=) c.1298A= (p.Asp433=) c.1151A= (p.Asp384=) c.*7A= (n.*7A=) c.1118A= (p.Asp373=) c.1260-5138A= (n.1260-5138A=) c.1370A= (p.Asp457=) c.1262A= (p.Asp421=) c.1190A= (p.Asp397=) c.1346A= (p.Asp449=) c.1031A= (p.Asp344=) | |
| 6 | g.73600353C>A | CA364719927 | SLC17A5 | c.1348G>T (p.Asp450Tyr) c.1297G>T (p.Asp433Tyr) c.1150G>T (p.Asp384Tyr) c.*6G>T (n.*6G>T) c.1117G>T (p.Asp373Tyr) c.1260-5139G>T (n.1260-5139G>T) c.1369G>T (p.Asp457Tyr) c.1261G>T (p.Asp421Tyr) c.1189G>T (p.Asp397Tyr) c.1345G>T (p.Asp449Tyr) c.1030G>T (p.Asp344Tyr) | |
| 6 | g.73600353C= | CA1638223802 | SLC17A5 | c.1348G= (p.Asp450=) c.1297G= (p.Asp433=) c.1150G= (p.Asp384=) c.*6G= (n.*6G=) c.1117G= (p.Asp373=) c.1260-5139G= (n.1260-5139G=) c.1369G= (p.Asp457=) c.1261G= (p.Asp421=) c.1189G= (p.Asp397=) c.1345G= (p.Asp449=) c.1030G= (p.Asp344=) | |
| 6 | g.73600353C>G | CA364719928 | SLC17A5 | c.1348G>C (p.Asp450His) c.1297G>C (p.Asp433His) c.1150G>C (p.Asp384His) c.*6G>C (n.*6G>C) c.1117G>C (p.Asp373His) c.1260-5139G>C (n.1260-5139G>C) c.1369G>C (p.Asp457His) c.1261G>C (p.Asp421His) c.1189G>C (p.Asp397His) c.1345G>C (p.Asp449His) c.1030G>C (p.Asp344His) | gnomAD v4 |
| 6 | g.73600353C>T | CA364719929 | SLC17A5 | c.1348G>A (p.Asp450Asn) c.1297G>A (p.Asp433Asn) c.1150G>A (p.Asp384Asn) c.*6G>A (n.*6G>A) c.1117G>A (p.Asp373Asn) c.1260-5139G>A (n.1260-5139G>A) c.1369G>A (p.Asp457Asn) c.1261G>A (p.Asp421Asn) c.1189G>A (p.Asp397Asn) c.1345G>A (p.Asp449Asn) c.1030G>A (p.Asp344Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73600354del | CA2679403313 | SLC17A5 | c.1347del (p.Asp450IlefsTer?) c.1296del (p.Asp433IlefsTer?) c.1149del (p.Asp384IlefsTer?) c.*5del (n.*5del) c.1116del (p.Asp373IlefsTer?) c.1260-5140del (n.1260-5140del) c.1368del (p.Asp457IlefsTer?) c.1260del (p.Asp421IlefsTer?) c.1347del (p.Asp450MetfsTer?) c.1188del (p.Asp397IlefsTer?) c.1344del (p.Asp449IlefsTer?) c.1029del (p.Asp344IlefsTer?) | gnomAD v4 |
| 6 | g.73600354A>C | CA450912526 | SLC17A5 | c.1347T>G (p.Pro449=) c.1296T>G (p.Pro432=) c.1149T>G (p.Pro383=) c.*5T>G (n.*5T>G) c.1116T>G (p.Pro372=) c.1260-5140T>G (n.1260-5140T>G) c.1368T>G (p.Pro456=) c.1260T>G (p.Pro420=) c.1188T>G (p.Pro396=) c.1344T>G (p.Pro448=) c.1029T>G (p.Pro343=) | |
| 6 | g.73600354A>G | CA450912528 | SLC17A5 | c.1347T>C (p.Pro449=) c.1296T>C (p.Pro432=) c.1149T>C (p.Pro383=) c.*5T>C (n.*5T>C) c.1116T>C (p.Pro372=) c.1260-5140T>C (n.1260-5140T>C) c.1368T>C (p.Pro456=) c.1260T>C (p.Pro420=) c.1188T>C (p.Pro396=) c.1344T>C (p.Pro448=) c.1029T>C (p.Pro343=) | gnomAD v4 |
| 6 | g.73600354A>T | CA450912529 | SLC17A5 | c.1347T>A (p.Pro449=) c.1296T>A (p.Pro432=) c.1149T>A (p.Pro383=) c.*5T>A (n.*5T>A) c.1116T>A (p.Pro372=) c.1260-5140T>A (n.1260-5140T>A) c.1368T>A (p.Pro456=) c.1260T>A (p.Pro420=) c.1188T>A (p.Pro396=) c.1344T>A (p.Pro448=) c.1029T>A (p.Pro343=) | |
| 6 | g.73600355G>A | CA364719930 | SLC17A5 | c.1346C>T (p.Pro449Leu) c.1295C>T (p.Pro432Leu) c.1148C>T (p.Pro383Leu) c.*4C>T (n.*4C>T) c.1115C>T (p.Pro372Leu) c.1260-5141C>T (n.1260-5141C>T) c.1367C>T (p.Pro456Leu) c.1259C>T (p.Pro420Leu) c.1187C>T (p.Pro396Leu) c.1343C>T (p.Pro448Leu) c.1028C>T (p.Pro343Leu) | |
| 6 | g.73600355G>C | CA364719931 | SLC17A5 | c.1346C>G (p.Pro449Arg) c.1295C>G (p.Pro432Arg) c.1148C>G (p.Pro383Arg) c.*4C>G (n.*4C>G) c.1115C>G (p.Pro372Arg) c.1260-5141C>G (n.1260-5141C>G) c.1367C>G (p.Pro456Arg) c.1259C>G (p.Pro420Arg) c.1187C>G (p.Pro396Arg) c.1343C>G (p.Pro448Arg) c.1028C>G (p.Pro343Arg) | |
| 6 | g.73600355G>T | CA364719932 | SLC17A5 | c.1346C>A (p.Pro449His) c.1295C>A (p.Pro432His) c.1148C>A (p.Pro383His) c.*4C>A (n.*4C>A) c.1115C>A (p.Pro372His) c.1260-5141C>A (n.1260-5141C>A) c.1367C>A (p.Pro456His) c.1259C>A (p.Pro420His) c.1187C>A (p.Pro396His) c.1343C>A (p.Pro448His) c.1028C>A (p.Pro343His) | |
| 6 | g.73600356G>A | CA364719935 | SLC17A5 | c.1345C>T (p.Pro449Ser) c.1294C>T (p.Pro432Ser) c.1147C>T (p.Pro383Ser) c.*3C>T (n.*3C>T) c.1114C>T (p.Pro372Ser) c.1260-5142C>T (n.1260-5142C>T) c.1366C>T (p.Pro456Ser) c.1258C>T (p.Pro420Ser) c.1186C>T (p.Pro396Ser) c.1342C>T (p.Pro448Ser) c.1027C>T (p.Pro343Ser) | COSMIC |
| 6 | g.73600356G>C | CA364719934 | SLC17A5 | c.1345C>G (p.Pro449Ala) c.1294C>G (p.Pro432Ala) c.1147C>G (p.Pro383Ala) c.*3C>G (n.*3C>G) c.1114C>G (p.Pro372Ala) c.1260-5142C>G (n.1260-5142C>G) c.1366C>G (p.Pro456Ala) c.1258C>G (p.Pro420Ala) c.1186C>G (p.Pro396Ala) c.1342C>G (p.Pro448Ala) c.1027C>G (p.Pro343Ala) | |
| 6 | g.73600356G>T | CA364719933 | SLC17A5 | c.1345C>A (p.Pro449Thr) c.1294C>A (p.Pro432Thr) c.1147C>A (p.Pro383Thr) c.*3C>A (n.*3C>A) c.1114C>A (p.Pro372Thr) c.1260-5142C>A (n.1260-5142C>A) c.1366C>A (p.Pro456Thr) c.1258C>A (p.Pro420Thr) c.1186C>A (p.Pro396Thr) c.1342C>A (p.Pro448Thr) c.1027C>A (p.Pro343Thr) | |
| 6 | g.73600357G>A | CA3890285 | SLC17A5 | c.1344C>T (p.Thr448=) c.1293C>T (p.Thr431=) c.1146C>T (p.Thr382=) c.*2C>T (n.*2C>T) c.1113C>T (p.Thr371=) c.1260-5143C>T (n.1260-5143C>T) c.1365C>T (p.Thr455=) c.1257C>T (p.Thr419=) c.1185C>T (p.Thr395=) c.1341C>T (p.Thr447=) c.1026C>T (p.Thr342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73600357G>C | CA450912536 | SLC17A5 | c.1344C>G (p.Thr448=) c.1293C>G (p.Thr431=) c.1146C>G (p.Thr382=) c.*2C>G (n.*2C>G) c.1113C>G (p.Thr371=) c.1260-5143C>G (n.1260-5143C>G) c.1365C>G (p.Thr455=) c.1257C>G (p.Thr419=) c.1185C>G (p.Thr395=) c.1341C>G (p.Thr447=) c.1026C>G (p.Thr342=) | |
| 6 | g.73600357G= | CA1638223804 | SLC17A5 | c.1344C= (p.Thr448=) c.1293C= (p.Thr431=) c.1146C= (p.Thr382=) c.*2C= (n.*2C=) c.1113C= (p.Thr371=) c.1260-5143C= (n.1260-5143C=) c.1365C= (p.Thr455=) c.1257C= (p.Thr419=) c.1185C= (p.Thr395=) c.1341C= (p.Thr447=) c.1026C= (p.Thr342=) | |
| 6 | g.73600357G>T | CA450912537 | SLC17A5 | c.1344C>A (p.Thr448=) c.1293C>A (p.Thr431=) c.1146C>A (p.Thr382=) c.*2C>A (n.*2C>A) c.1113C>A (p.Thr371=) c.1260-5143C>A (n.1260-5143C>A) c.1365C>A (p.Thr455=) c.1257C>A (p.Thr419=) c.1185C>A (p.Thr395=) c.1341C>A (p.Thr447=) c.1026C>A (p.Thr342=) | gnomAD v4 |
| 6 | g.73600358G>A | CA364719936 | SLC17A5 | c.1343C>T (p.Thr448Ile) c.1292C>T (p.Thr431Ile) c.1145C>T (p.Thr382Ile) c.*1C>T (n.*1C>T) c.1112C>T (p.Thr371Ile) c.1260-5144C>T (n.1260-5144C>T) c.1364C>T (p.Thr455Ile) c.1256C>T (p.Thr419Ile) c.1184C>T (p.Thr395Ile) c.1340C>T (p.Thr447Ile) c.1025C>T (p.Thr342Ile) | gnomAD v4 |
| 6 | g.73600358G>C | CA364719937 | SLC17A5 | c.1343C>G (p.Thr448Ser) c.1292C>G (p.Thr431Ser) c.1145C>G (p.Thr382Ser) c.*1C>G (n.*1C>G) c.1112C>G (p.Thr371Ser) c.1260-5144C>G (n.1260-5144C>G) c.1364C>G (p.Thr455Ser) c.1256C>G (p.Thr419Ser) c.1184C>G (p.Thr395Ser) c.1340C>G (p.Thr447Ser) c.1025C>G (p.Thr342Ser) | |
| 6 | g.73600358G= | CA1638223808 | SLC17A5 | c.1343C= (p.Thr448=) c.1292C= (p.Thr431=) c.1145C= (p.Thr382=) c.*1C= (n.*1C=) c.1112C= (p.Thr371=) c.1260-5144C= (n.1260-5144C=) c.1364C= (p.Thr455=) c.1256C= (p.Thr419=) c.1184C= (p.Thr395=) c.1340C= (p.Thr447=) c.1025C= (p.Thr342=) | |
| 6 | g.73600358G>T | CA364719938 | SLC17A5 | c.1343C>A (p.Thr448Asn) c.1292C>A (p.Thr431Asn) c.1145C>A (p.Thr382Asn) c.*1C>A (n.*1C>A) c.1112C>A (p.Thr371Asn) c.1260-5144C>A (n.1260-5144C>A) c.1364C>A (p.Thr455Asn) c.1256C>A (p.Thr419Asn) c.1184C>A (p.Thr395Asn) c.1340C>A (p.Thr447Asn) c.1025C>A (p.Thr342Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73600359del | CA2679403314 | SLC17A5 | c.1342del (p.Thr448ProfsTer?) c.1291del (p.Thr431ProfsTer?) c.1144del (p.Thr382ProfsTer?) c.1194del (p.Ter398CysextTer3) c.1111del (p.Thr371ProfsTer?) c.1260-5145del (n.1260-5145del) c.1363del (p.Thr455ProfsTer?) c.1255del (p.Thr419ProfsTer?) c.1183del (p.Thr395ProfsTer?) c.1339del (p.Thr447ProfsTer?) c.1024del (p.Thr342ProfsTer?) | gnomAD v4 |
| 6 | g.73600359T>A | CA364719939 | SLC17A5 | c.1342A>T (p.Thr448Ser) c.1291A>T (p.Thr431Ser) c.1144A>T (p.Thr382Ser) c.1194A>T (p.Ter398Cys) c.1111A>T (p.Thr371Ser) c.1260-5145A>T (n.1260-5145A>T) c.1363A>T (p.Thr455Ser) c.1255A>T (p.Thr419Ser) c.1183A>T (p.Thr395Ser) c.1339A>T (p.Thr447Ser) c.1024A>T (p.Thr342Ser) | |
| 6 | g.73600359T>C | CA3890286 | SLC17A5 | c.1342A>G (p.Thr448Ala) c.1291A>G (p.Thr431Ala) c.1144A>G (p.Thr382Ala) c.1194A>G (p.Ter398Trp) c.1111A>G (p.Thr371Ala) c.1260-5145A>G (n.1260-5145A>G) c.1363A>G (p.Thr455Ala) c.1255A>G (p.Thr419Ala) c.1183A>G (p.Thr395Ala) c.1339A>G (p.Thr447Ala) c.1024A>G (p.Thr342Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.73600359T>G | CA364719940 | SLC17A5 | c.1342A>C (p.Thr448Pro) c.1291A>C (p.Thr431Pro) c.1144A>C (p.Thr382Pro) c.1194A>C (p.Ter398Cys) c.1111A>C (p.Thr371Pro) c.1260-5145A>C (n.1260-5145A>C) c.1363A>C (p.Thr455Pro) c.1255A>C (p.Thr419Pro) c.1183A>C (p.Thr395Pro) c.1339A>C (p.Thr447Pro) c.1024A>C (p.Thr342Pro) | |
| 6 | g.73600359T= | CA1638223811 | SLC17A5 | c.1342A= (p.Thr448=) c.1291A= (p.Thr431=) c.1144A= (p.Thr382=) c.1194A= (p.Ter398=) c.1111A= (p.Thr371=) c.1260-5145A= (n.1260-5145A=) c.1363A= (p.Thr455=) c.1255A= (p.Thr419=) c.1183A= (p.Thr395=) c.1339A= (p.Thr447=) c.1024A= (p.Thr342=) | |
| 6 | g.73600359_73600360delinsTC | CA1638223812 | SLC17A5 | c.1341_1342delinsGA (p.Leu447=) c.1290_1291delinsGA (p.Leu430=) c.1143_1144delinsGA (p.Leu381=) c.1193_1194delinsGA (p.Ter398=) c.1110_1111delinsGA (p.Leu370=) c.1260-5146_1260-5145delinsGA (n.1260-5146_1260-5145delinsGA) c.1362_1363delinsGA (p.Leu454=) c.1254_1255delinsGA (p.Leu418=) c.1182_1183delinsGA (p.Leu394=) c.1338_1339delinsGA (p.Leu446=) c.1023_1024delinsGA (p.Leu341=) | |
| 6 | g.73600360del | CA3890287 | SLC17A5 | c.1341del (p.Thr448ProfsTer?) c.1290del (p.Thr431ProfsTer?) c.1143del (p.Thr382ProfsTer?) c.1193del (p.Ter398TyrextTer3) c.1110del (p.Thr371ProfsTer?) c.1260-5146del (n.1260-5146del) c.1362del (p.Thr455ProfsTer?) c.1254del (p.Thr419ProfsTer?) c.1182del (p.Thr395ProfsTer?) c.1338del (p.Thr447ProfsTer?) c.1023del (p.Thr342ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73600360C>A | CA450912546 | SLC17A5 | c.1341G>T (p.Leu447=) c.1290G>T (p.Leu430=) c.1143G>T (p.Leu381=) c.1193G>T (p.Ter398Leu) c.1110G>T (p.Leu370=) c.1260-5146G>T (n.1260-5146G>T) c.1362G>T (p.Leu454=) c.1254G>T (p.Leu418=) c.1182G>T (p.Leu394=) c.1338G>T (p.Leu446=) c.1023G>T (p.Leu341=) | |
| 6 | g.73600360C>G | CA450912548 | SLC17A5 | c.1341G>C (p.Leu447=) c.1290G>C (p.Leu430=) c.1143G>C (p.Leu381=) c.1193G>C (p.Ter398Ser) c.1110G>C (p.Leu370=) c.1260-5146G>C (n.1260-5146G>C) c.1362G>C (p.Leu454=) c.1254G>C (p.Leu418=) c.1182G>C (p.Leu394=) c.1338G>C (p.Leu446=) c.1023G>C (p.Leu341=) | |
| 6 | g.73600360C>T | CA450912550 | SLC17A5 | c.1341G>A (p.Leu447=) c.1290G>A (p.Leu430=) c.1143G>A (p.Leu381=) c.1193G>A (p.Ter398=) c.1110G>A (p.Leu370=) c.1260-5146G>A (n.1260-5146G>A) c.1362G>A (p.Leu454=) c.1254G>A (p.Leu418=) c.1182G>A (p.Leu394=) c.1338G>A (p.Leu446=) c.1023G>A (p.Leu341=) | |
| 6 | g.73600361A>C | CA364719941 | SLC17A5 | c.1340T>G (p.Leu447Arg) c.1289T>G (p.Leu430Arg) c.1142T>G (p.Leu381Arg) c.1192T>G (p.Ter398Gly) c.1109T>G (p.Leu370Arg) c.1260-5147T>G (n.1260-5147T>G) c.1361T>G (p.Leu454Arg) c.1253T>G (p.Leu418Arg) c.1181T>G (p.Leu394Arg) c.1337T>G (p.Leu446Arg) c.1022T>G (p.Leu341Arg) | |
| 6 | g.73600361A>G | CA364719942 | SLC17A5 | c.1340T>C (p.Leu447Pro) c.1289T>C (p.Leu430Pro) c.1142T>C (p.Leu381Pro) c.1192T>C (p.Ter398Arg) c.1109T>C (p.Leu370Pro) c.1260-5147T>C (n.1260-5147T>C) c.1361T>C (p.Leu454Pro) c.1253T>C (p.Leu418Pro) c.1181T>C (p.Leu394Pro) c.1337T>C (p.Leu446Pro) c.1022T>C (p.Leu341Pro) | |
| 6 | g.73600361A>T | CA364719943 | SLC17A5 | c.1340T>A (p.Leu447Gln) c.1289T>A (p.Leu430Gln) c.1142T>A (p.Leu381Gln) c.1192T>A (p.Ter398Arg) c.1109T>A (p.Leu370Gln) c.1260-5147T>A (n.1260-5147T>A) c.1361T>A (p.Leu454Gln) c.1253T>A (p.Leu418Gln) c.1181T>A (p.Leu394Gln) c.1337T>A (p.Leu446Gln) c.1022T>A (p.Leu341Gln) | |
| 6 | g.73600362G>A | CA450912555 | SLC17A5 | c.1339C>T (p.Leu447=) c.1288C>T (p.Leu430=) c.1141C>T (p.Leu381=) c.1191C>T (p.Val397=) c.1108C>T (p.Leu370=) c.1260-5148C>T (n.1260-5148C>T) c.1360C>T (p.Leu454=) c.1252C>T (p.Leu418=) c.1180C>T (p.Leu394=) c.1336C>T (p.Leu446=) c.1021C>T (p.Leu341=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73600362G>C | CA364719944 | SLC17A5 | c.1339C>G (p.Leu447Val) c.1288C>G (p.Leu430Val) c.1141C>G (p.Leu381Val) c.1191C>G (p.Val397=) c.1108C>G (p.Leu370Val) c.1260-5148C>G (n.1260-5148C>G) c.1360C>G (p.Leu454Val) c.1252C>G (p.Leu418Val) c.1180C>G (p.Leu394Val) c.1336C>G (p.Leu446Val) c.1021C>G (p.Leu341Val) | |
| 6 | g.73600362G= | CA1638223815 | SLC17A5 | c.1339C= (p.Leu447=) c.1288C= (p.Leu430=) c.1141C= (p.Leu381=) c.1191C= (p.Val397=) c.1108C= (p.Leu370=) c.1260-5148C= (n.1260-5148C=) c.1360C= (p.Leu454=) c.1252C= (p.Leu418=) c.1180C= (p.Leu394=) c.1336C= (p.Leu446=) c.1021C= (p.Leu341=) | |
| 6 | g.73600362G>T | CA364719945 | SLC17A5 | c.1339C>A (p.Leu447Met) c.1288C>A (p.Leu430Met) c.1141C>A (p.Leu381Met) c.1191C>A (p.Val397=) c.1108C>A (p.Leu370Met) c.1260-5148C>A (n.1260-5148C>A) c.1360C>A (p.Leu454Met) c.1252C>A (p.Leu418Met) c.1180C>A (p.Leu394Met) c.1336C>A (p.Leu446Met) c.1021C>A (p.Leu341Met) |