Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73600354delCA2679403313SLC17A5c.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
6g.73600354A>CCA450912526SLC17A5c.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=)
6g.73600354A>GCA450912528SLC17A5c.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
6g.73600354A>TCA450912529SLC17A5c.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=)
6g.73600355G>ACA364719930SLC17A5c.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)
6g.73600355G>CCA364719931SLC17A5c.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)
6g.73600355G>TCA364719932SLC17A5c.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)
6g.73600356G>ACA364719935SLC17A5c.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
6g.73600356G>CCA364719934SLC17A5c.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)
6g.73600356G>TCA364719933SLC17A5c.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)
6g.73600357G>ACA3890285SLC17A5c.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
6g.73600357G>CCA450912536SLC17A5c.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=)
6g.73600357G=CA1638223804SLC17A5c.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=)
6g.73600357G>TCA450912537SLC17A5c.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
6g.73600358G>ACA364719936SLC17A5c.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
6g.73600358G>CCA364719937SLC17A5c.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)
6g.73600358G=CA1638223808SLC17A5c.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=)
6g.73600358G>TCA364719938SLC17A5c.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
6g.73600359delCA2679403314SLC17A5c.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
6g.73600359T>ACA364719939SLC17A5c.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)
6g.73600359T>CCA3890286SLC17A5c.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
6g.73600359T>GCA364719940SLC17A5c.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)
6g.73600359T=CA1638223811SLC17A5c.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=)
6g.73600359_73600360delinsTCCA1638223812SLC17A5c.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=)
6g.73600360delCA3890287SLC17A5c.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
6g.73600360C>ACA450912546SLC17A5c.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=)
6g.73600360C>GCA450912548SLC17A5c.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=)
6g.73600360C>TCA450912550SLC17A5c.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=)
6g.73600361A>CCA364719941SLC17A5c.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)
6g.73600361A>GCA364719942SLC17A5c.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)
6g.73600361A>TCA364719943SLC17A5c.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)
6g.73600362G>ACA450912555SLC17A5c.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
6g.73600362G>CCA364719944SLC17A5c.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)
6g.73600362G=CA1638223815SLC17A5c.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=)
6g.73600362G>TCA364719945SLC17A5c.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)
6g.73600363A>CCA364719946SLC17A5c.1338T>G (p.Ser446Arg)
c.1287T>G (p.Ser429Arg)
c.1140T>G (p.Ser380Arg)
c.1190T>G (p.Val397Gly)
c.1107T>G (p.Ser369Arg)
c.1260-5149T>G (n.1260-5149T>G)
c.1359T>G (p.Ser453Arg)
c.1251T>G (p.Ser417Arg)
c.1179T>G (p.Ser393Arg)
c.1335T>G (p.Ser445Arg)
c.1020T>G (p.Ser340Arg)
6g.73600363A>GCA450912559SLC17A5c.1338T>C (p.Ser446=)
c.1287T>C (p.Ser429=)
c.1140T>C (p.Ser380=)
c.1190T>C (p.Val397Ala)
c.1107T>C (p.Ser369=)
c.1260-5149T>C (n.1260-5149T>C)
c.1359T>C (p.Ser453=)
c.1251T>C (p.Ser417=)
c.1179T>C (p.Ser393=)
c.1335T>C (p.Ser445=)
c.1020T>C (p.Ser340=)
6g.73600363A>TCA364719947SLC17A5c.1338T>A (p.Ser446Arg)
c.1287T>A (p.Ser429Arg)
c.1140T>A (p.Ser380Arg)
c.1190T>A (p.Val397Asp)
c.1107T>A (p.Ser369Arg)
c.1260-5149T>A (n.1260-5149T>A)
c.1359T>A (p.Ser453Arg)
c.1251T>A (p.Ser417Arg)
c.1179T>A (p.Ser393Arg)
c.1335T>A (p.Ser445Arg)
c.1020T>A (p.Ser340Arg)
6g.73600364C>ACA364719948SLC17A5c.1337G>T (p.Ser446Ile)
c.1286G>T (p.Ser429Ile)
c.1139G>T (p.Ser380Ile)
c.1189G>T (p.Val397Phe)
c.1106G>T (p.Ser369Ile)
c.1260-5150G>T (n.1260-5150G>T)
c.1358G>T (p.Ser453Ile)
c.1250G>T (p.Ser417Ile)
c.1178G>T (p.Ser393Ile)
c.1334G>T (p.Ser445Ile)
c.1019G>T (p.Ser340Ile)
6g.73600364C>GCA364719949SLC17A5c.1337G>C (p.Ser446Thr)
c.1286G>C (p.Ser429Thr)
c.1139G>C (p.Ser380Thr)
c.1189G>C (p.Val397Leu)
c.1106G>C (p.Ser369Thr)
c.1260-5150G>C (n.1260-5150G>C)
c.1358G>C (p.Ser453Thr)
c.1250G>C (p.Ser417Thr)
c.1178G>C (p.Ser393Thr)
c.1334G>C (p.Ser445Thr)
c.1019G>C (p.Ser340Thr)
6g.73600364C>TCA364719950SLC17A5c.1337G>A (p.Ser446Asn)
c.1286G>A (p.Ser429Asn)
c.1139G>A (p.Ser380Asn)
c.1189G>A (p.Val397Ile)
c.1106G>A (p.Ser369Asn)
c.1260-5150G>A (n.1260-5150G>A)
c.1358G>A (p.Ser453Asn)
c.1250G>A (p.Ser417Asn)
c.1178G>A (p.Ser393Asn)
c.1334G>A (p.Ser445Asn)
c.1019G>A (p.Ser340Asn)
6g.73600364_73600365delinsCTCA1638223818SLC17A5c.1336_1337delinsAG (p.Ser446=)
c.1285_1286delinsAG (p.Ser429=)
c.1138_1139delinsAG (p.Ser380=)
c.1188_1189delinsAG (p.Lys396=)
c.1105_1106delinsAG (p.Ser369=)
c.1260-5151_1260-5150delinsAG (n.1260-5151_1260-5150delinsAG)
c.1357_1358delinsAG (p.Ser453=)
c.1249_1250delinsAG (p.Ser417=)
c.1177_1178delinsAG (p.Ser393=)
c.1333_1334delinsAG (p.Ser445=)
c.1018_1019delinsAG (p.Ser340=)
6g.73600365T>ACA364719951SLC17A5c.1336A>T (p.Ser446Cys)
c.1285A>T (p.Ser429Cys)
c.1138A>T (p.Ser380Cys)
c.1188A>T (p.Lys396Asn)
c.1105A>T (p.Ser369Cys)
c.1260-5151A>T (n.1260-5151A>T)
c.1357A>T (p.Ser453Cys)
c.1249A>T (p.Ser417Cys)
c.1177A>T (p.Ser393Cys)
c.1333A>T (p.Ser445Cys)
c.1018A>T (p.Ser340Cys)
6g.73600365T>CCA364719952SLC17A5c.1336A>G (p.Ser446Gly)
c.1285A>G (p.Ser429Gly)
c.1138A>G (p.Ser380Gly)
c.1188A>G (p.Lys396=)
c.1105A>G (p.Ser369Gly)
c.1260-5151A>G (n.1260-5151A>G)
c.1357A>G (p.Ser453Gly)
c.1249A>G (p.Ser417Gly)
c.1177A>G (p.Ser393Gly)
c.1333A>G (p.Ser445Gly)
c.1018A>G (p.Ser340Gly)
6g.73600365T>GCA364719953SLC17A5c.1336A>C (p.Ser446Arg)
c.1285A>C (p.Ser429Arg)
c.1138A>C (p.Ser380Arg)
c.1188A>C (p.Lys396Asn)
c.1105A>C (p.Ser369Arg)
c.1260-5151A>C (n.1260-5151A>C)
c.1357A>C (p.Ser453Arg)
c.1249A>C (p.Ser417Arg)
c.1177A>C (p.Ser393Arg)
c.1333A>C (p.Ser445Arg)
c.1018A>C (p.Ser340Arg)
6g.73600368delCA140972068SLC17A5c.1336del (p.Ser446ValfsTer2)
c.1285del (p.Ser429ValfsTer2)
c.1138del (p.Ser380ValfsTer2)
c.1188del (p.Val397SerfsTer4)
c.1105del (p.Ser369ValfsTer2)
c.1260-5151del (n.1260-5151del)
c.1357del (p.Ser453ValfsTer2)
c.1249del (p.Ser417ValfsTer2)
c.1177del (p.Ser393ValfsTer2)
c.1333del (p.Ser445ValfsTer2)
c.1018del (p.Ser340ValfsTer2)
 dbSNP
6g.73600366T>ACA364719954SLC17A5c.1335A>T (p.Lys445Asn)
c.1284A>T (p.Lys428Asn)
c.1137A>T (p.Lys379Asn)
c.1187A>T (p.Lys396Ile)
c.1104A>T (p.Lys368Asn)
c.1260-5152A>T (n.1260-5152A>T)
c.1356A>T (p.Lys452Asn)
c.1248A>T (p.Lys416Asn)
c.1176A>T (p.Lys392Asn)
c.1332A>T (p.Lys444Asn)
c.1017A>T (p.Lys339Asn)
6g.73600366T>CCA450912564SLC17A5c.1335A>G (p.Lys445=)
c.1284A>G (p.Lys428=)
c.1137A>G (p.Lys379=)
c.1187A>G (p.Lys396Arg)
c.1104A>G (p.Lys368=)
c.1260-5152A>G (n.1260-5152A>G)
c.1356A>G (p.Lys452=)
c.1248A>G (p.Lys416=)
c.1176A>G (p.Lys392=)
c.1332A>G (p.Lys444=)
c.1017A>G (p.Lys339=)
6g.73600366T>GCA364719955SLC17A5c.1335A>C (p.Lys445Asn)
c.1284A>C (p.Lys428Asn)
c.1137A>C (p.Lys379Asn)
c.1187A>C (p.Lys396Thr)
c.1104A>C (p.Lys368Asn)
c.1260-5152A>C (n.1260-5152A>C)
c.1356A>C (p.Lys452Asn)
c.1248A>C (p.Lys416Asn)
c.1176A>C (p.Lys392Asn)
c.1332A>C (p.Lys444Asn)
c.1017A>C (p.Lys339Asn)
6g.73600367T>ACA364719956SLC17A5c.1334A>T (p.Lys445Ile)
c.1283A>T (p.Lys428Ile)
c.1136A>T (p.Lys379Ile)
c.1186A>T (p.Lys396Ter)
c.1103A>T (p.Lys368Ile)
c.1260-5153A>T (n.1260-5153A>T)
c.1355A>T (p.Lys452Ile)
c.1247A>T (p.Lys416Ile)
c.1175A>T (p.Lys392Ile)
c.1331A>T (p.Lys444Ile)
c.1016A>T (p.Lys339Ile)
6g.73600367T>CCA364719957SLC17A5c.1334A>G (p.Lys445Arg)
c.1283A>G (p.Lys428Arg)
c.1136A>G (p.Lys379Arg)
c.1186A>G (p.Lys396Glu)
c.1103A>G (p.Lys368Arg)
c.1260-5153A>G (n.1260-5153A>G)
c.1355A>G (p.Lys452Arg)
c.1247A>G (p.Lys416Arg)
c.1175A>G (p.Lys392Arg)
c.1331A>G (p.Lys444Arg)
c.1016A>G (p.Lys339Arg)
6g.73600367T>GCA364719958SLC17A5c.1334A>C (p.Lys445Thr)
c.1283A>C (p.Lys428Thr)
c.1136A>C (p.Lys379Thr)
c.1186A>C (p.Lys396Gln)
c.1103A>C (p.Lys368Thr)
c.1260-5153A>C (n.1260-5153A>C)
c.1355A>C (p.Lys452Thr)
c.1247A>C (p.Lys416Thr)
c.1175A>C (p.Lys392Thr)
c.1331A>C (p.Lys444Thr)
c.1016A>C (p.Lys339Thr)
6g.73600368T>ACA364719960SLC17A5c.1333A>T (p.Lys445Ter)
c.1282A>T (p.Lys428Ter)
c.1135A>T (p.Lys379Ter)
c.1185A>T (p.Leu395=)
c.1102A>T (p.Lys368Ter)
c.1260-5154A>T (n.1260-5154A>T)
c.1354A>T (p.Lys452Ter)
c.1246A>T (p.Lys416Ter)
c.1174A>T (p.Lys392Ter)
c.1330A>T (p.Lys444Ter)
c.1015A>T (p.Lys339Ter)
6g.73600368T>CCA3890288SLC17A5c.1333A>G (p.Lys445Glu)
c.1282A>G (p.Lys428Glu)
c.1135A>G (p.Lys379Glu)
c.1185A>G (p.Leu395=)
c.1102A>G (p.Lys368Glu)
c.1260-5154A>G (n.1260-5154A>G)
c.1354A>G (p.Lys452Glu)
c.1246A>G (p.Lys416Glu)
c.1174A>G (p.Lys392Glu)
c.1330A>G (p.Lys444Glu)
c.1015A>G (p.Lys339Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600368T>GCA364719959SLC17A5c.1333A>C (p.Lys445Gln)
c.1282A>C (p.Lys428Gln)
c.1135A>C (p.Lys379Gln)
c.1185A>C (p.Leu395=)
c.1102A>C (p.Lys368Gln)
c.1260-5154A>C (n.1260-5154A>C)
c.1354A>C (p.Lys452Gln)
c.1246A>C (p.Lys416Gln)
c.1174A>C (p.Lys392Gln)
c.1330A>C (p.Lys444Gln)
c.1015A>C (p.Lys339Gln)
6g.73600368T=CA1638223822SLC17A5c.1333A= (p.Lys445=)
c.1282A= (p.Lys428=)
c.1135A= (p.Lys379=)
c.1185A= (p.Leu395=)
c.1102A= (p.Lys368=)
c.1260-5154A= (n.1260-5154A=)
c.1354A= (p.Lys452=)
c.1246A= (p.Lys416=)
c.1174A= (p.Lys392=)
c.1330A= (p.Lys444=)
c.1015A= (p.Lys339=)
6g.73600369A>CCA450912571SLC17A5c.1332T>G (p.Ala444=)
c.1281T>G (p.Ala427=)
c.1134T>G (p.Ala378=)
c.1184T>G (p.Leu395Arg)
c.1101T>G (p.Ala367=)
c.1260-5155T>G (n.1260-5155T>G)
c.1353T>G (p.Ala451=)
c.1245T>G (p.Ala415=)
c.1173T>G (p.Ala391=)
c.1329T>G (p.Ala443=)
c.1014T>G (p.Ala338=)
6g.73600369A>GCA450912573SLC17A5c.1332T>C (p.Ala444=)
c.1281T>C (p.Ala427=)
c.1134T>C (p.Ala378=)
c.1184T>C (p.Leu395Pro)
c.1101T>C (p.Ala367=)
c.1260-5155T>C (n.1260-5155T>C)
c.1353T>C (p.Ala451=)
c.1245T>C (p.Ala415=)
c.1173T>C (p.Ala391=)
c.1329T>C (p.Ala443=)
c.1014T>C (p.Ala338=)
6g.73600369A>TCA450912574SLC17A5c.1332T>A (p.Ala444=)
c.1281T>A (p.Ala427=)
c.1134T>A (p.Ala378=)
c.1184T>A (p.Leu395Gln)
c.1101T>A (p.Ala367=)
c.1260-5155T>A (n.1260-5155T>A)
c.1353T>A (p.Ala451=)
c.1245T>A (p.Ala415=)
c.1173T>A (p.Ala391=)
c.1329T>A (p.Ala443=)
c.1014T>A (p.Ala338=)
6g.73600370G>ACA364719961SLC17A5c.1331C>T (p.Ala444Val)
c.1280C>T (p.Ala427Val)
c.1133C>T (p.Ala378Val)
c.1183C>T (p.Leu395=)
c.1100C>T (p.Ala367Val)
c.1260-5156C>T (n.1260-5156C>T)
c.1352C>T (p.Ala451Val)
c.1244C>T (p.Ala415Val)
c.1172C>T (p.Ala391Val)
c.1328C>T (p.Ala443Val)
c.1013C>T (p.Ala338Val)
6g.73600370G>CCA364719962SLC17A5c.1331C>G (p.Ala444Gly)
c.1280C>G (p.Ala427Gly)
c.1133C>G (p.Ala378Gly)
c.1183C>G (p.Leu395Val)
c.1100C>G (p.Ala367Gly)
c.1260-5156C>G (n.1260-5156C>G)
c.1352C>G (p.Ala451Gly)
c.1244C>G (p.Ala415Gly)
c.1172C>G (p.Ala391Gly)
c.1328C>G (p.Ala443Gly)
c.1013C>G (p.Ala338Gly)
6g.73600370G=CA1638223825SLC17A5c.1331C= (p.Ala444=)
c.1280C= (p.Ala427=)
c.1133C= (p.Ala378=)
c.1183C= (p.Leu395=)
c.1100C= (p.Ala367=)
c.1260-5156C= (n.1260-5156C=)
c.1352C= (p.Ala451=)
c.1244C= (p.Ala415=)
c.1172C= (p.Ala391=)
c.1328C= (p.Ala443=)
c.1013C= (p.Ala338=)
6g.73600370G>TCA364719963SLC17A5c.1331C>A (p.Ala444Asp)
c.1280C>A (p.Ala427Asp)
c.1133C>A (p.Ala378Asp)
c.1183C>A (p.Leu395Ile)
c.1100C>A (p.Ala367Asp)
c.1260-5156C>A (n.1260-5156C>A)
c.1352C>A (p.Ala451Asp)
c.1244C>A (p.Ala415Asp)
c.1172C>A (p.Ala391Asp)
c.1328C>A (p.Ala443Asp)
c.1013C>A (p.Ala338Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.73600371C>ACA364719964SLC17A5c.1330G>T (p.Ala444Ser)
c.1279G>T (p.Ala427Ser)
c.1132G>T (p.Ala378Ser)
c.1182G>T (p.Leu394Phe)
c.1099G>T (p.Ala367Ser)
c.1260-5157G>T (n.1260-5157G>T)
c.1351G>T (p.Ala451Ser)
c.1243G>T (p.Ala415Ser)
c.1171G>T (p.Ala391Ser)
c.1327G>T (p.Ala443Ser)
c.1012G>T (p.Ala338Ser)
6g.73600371C>GCA364719965SLC17A5c.1330G>C (p.Ala444Pro)
c.1279G>C (p.Ala427Pro)
c.1132G>C (p.Ala378Pro)
c.1182G>C (p.Leu394Phe)
c.1099G>C (p.Ala367Pro)
c.1260-5157G>C (n.1260-5157G>C)
c.1351G>C (p.Ala451Pro)
c.1243G>C (p.Ala415Pro)
c.1171G>C (p.Ala391Pro)
c.1327G>C (p.Ala443Pro)
c.1012G>C (p.Ala338Pro)
6g.73600371C>TCA364719966SLC17A5c.1330G>A (p.Ala444Thr)
c.1279G>A (p.Ala427Thr)
c.1132G>A (p.Ala378Thr)
c.1182G>A (p.Leu394=)
c.1099G>A (p.Ala367Thr)
c.1260-5157G>A (n.1260-5157G>A)
c.1351G>A (p.Ala451Thr)
c.1243G>A (p.Ala415Thr)
c.1171G>A (p.Ala391Thr)
c.1327G>A (p.Ala443Thr)
c.1012G>A (p.Ala338Thr)
6g.73600372A>CCA364719967SLC17A5c.1329T>G (p.Ile443Met)
c.1278T>G (p.Ile426Met)
c.1131T>G (p.Ile377Met)
c.1181T>G (p.Leu394Trp)
c.1098T>G (p.Ile366Met)
c.1260-5158T>G (n.1260-5158T>G)
c.1350T>G (p.Ile450Met)
c.1242T>G (p.Ile414Met)
c.1170T>G (p.Ile390Met)
c.1326T>G (p.Ile442Met)
c.1011T>G (p.Ile337Met)
6g.73600372A>GCA450912582SLC17A5c.1329T>C (p.Ile443=)
c.1278T>C (p.Ile426=)
c.1131T>C (p.Ile377=)
c.1181T>C (p.Leu394Ser)
c.1098T>C (p.Ile366=)
c.1260-5158T>C (n.1260-5158T>C)
c.1350T>C (p.Ile450=)
c.1242T>C (p.Ile414=)
c.1170T>C (p.Ile390=)
c.1326T>C (p.Ile442=)
c.1011T>C (p.Ile337=)
6g.73600372A>TCA450912583SLC17A5c.1329T>A (p.Ile443=)
c.1278T>A (p.Ile426=)
c.1131T>A (p.Ile377=)
c.1181T>A (p.Leu394Ter)
c.1098T>A (p.Ile366=)
c.1260-5158T>A (n.1260-5158T>A)
c.1350T>A (p.Ile450=)
c.1242T>A (p.Ile414=)
c.1170T>A (p.Ile390=)
c.1326T>A (p.Ile442=)
c.1011T>A (p.Ile337=)
6g.73600373dupCA913111550SLC17A5c.1329dup (p.Ala444CysfsTer2)
c.1278dup (p.Ala427CysfsTer2)
c.1131dup (p.Ala378CysfsTer2)
c.1181dup (p.Leu394PhefsTer?)
c.1098dup (p.Ala367CysfsTer2)
c.1260-5158dup (n.1260-5158dup)
c.1350dup (p.Ala451CysfsTer2)
c.1242dup (p.Ala415CysfsTer2)
c.1170dup (p.Ala391CysfsTer2)
c.1326dup (p.Ala443CysfsTer2)
c.1011dup (p.Ala338CysfsTer2)
6g.73600373A=CA1638223827SLC17A5c.1328T= (p.Ile443=)
c.1277T= (p.Ile426=)
c.1130T= (p.Ile377=)
c.1180T= (p.Leu394=)
c.1097T= (p.Ile366=)
c.1260-5159T= (n.1260-5159T=)
c.1349T= (p.Ile450=)
c.1241T= (p.Ile414=)
c.1169T= (p.Ile390=)
c.1325T= (p.Ile442=)
c.1010T= (p.Ile337=)
6g.73600373A>CCA364719968SLC17A5c.1328T>G (p.Ile443Ser)
c.1277T>G (p.Ile426Ser)
c.1130T>G (p.Ile377Ser)
c.1180T>G (p.Leu394Val)
c.1097T>G (p.Ile366Ser)
c.1260-5159T>G (n.1260-5159T>G)
c.1349T>G (p.Ile450Ser)
c.1241T>G (p.Ile414Ser)
c.1169T>G (p.Ile390Ser)
c.1325T>G (p.Ile442Ser)
c.1010T>G (p.Ile337Ser)
6g.73600373A>GCA364719969SLC17A5c.1328T>C (p.Ile443Thr)
c.1277T>C (p.Ile426Thr)
c.1130T>C (p.Ile377Thr)
c.1180T>C (p.Leu394=)
c.1097T>C (p.Ile366Thr)
c.1260-5159T>C (n.1260-5159T>C)
c.1349T>C (p.Ile450Thr)
c.1241T>C (p.Ile414Thr)
c.1169T>C (p.Ile390Thr)
c.1325T>C (p.Ile442Thr)
c.1010T>C (p.Ile337Thr)
 gnomAD v4
6g.73600373A>TCA364719970SLC17A5c.1328T>A (p.Ile443Asn)
c.1277T>A (p.Ile426Asn)
c.1130T>A (p.Ile377Asn)
c.1180T>A (p.Leu394Met)
c.1097T>A (p.Ile366Asn)
c.1260-5159T>A (n.1260-5159T>A)
c.1349T>A (p.Ile450Asn)
c.1241T>A (p.Ile414Asn)
c.1169T>A (p.Ile390Asn)
c.1325T>A (p.Ile442Asn)
c.1010T>A (p.Ile337Asn)
6g.73600374T>ACA364719971SLC17A5c.1327A>T (p.Ile443Phe)
c.1276A>T (p.Ile426Phe)
c.1129A>T (p.Ile377Phe)
c.1179A>T (p.Ser393=)
c.1096A>T (p.Ile366Phe)
c.1260-5160A>T (n.1260-5160A>T)
c.1348A>T (p.Ile450Phe)
c.1240A>T (p.Ile414Phe)
c.1168A>T (p.Ile390Phe)
c.1324A>T (p.Ile442Phe)
c.1009A>T (p.Ile337Phe)
6g.73600374T>CCA364719972SLC17A5c.1327A>G (p.Ile443Val)
c.1276A>G (p.Ile426Val)
c.1129A>G (p.Ile377Val)
c.1179A>G (p.Ser393=)
c.1096A>G (p.Ile366Val)
c.1260-5160A>G (n.1260-5160A>G)
c.1348A>G (p.Ile450Val)
c.1240A>G (p.Ile414Val)
c.1168A>G (p.Ile390Val)
c.1324A>G (p.Ile442Val)
c.1009A>G (p.Ile337Val)
6g.73600374T>GCA364719973SLC17A5c.1327A>C (p.Ile443Leu)
c.1276A>C (p.Ile426Leu)
c.1129A>C (p.Ile377Leu)
c.1179A>C (p.Ser393=)
c.1096A>C (p.Ile366Leu)
c.1260-5160A>C (n.1260-5160A>C)
c.1348A>C (p.Ile450Leu)
c.1240A>C (p.Ile414Leu)
c.1168A>C (p.Ile390Leu)
c.1324A>C (p.Ile442Leu)
c.1009A>C (p.Ile337Leu)
6g.73600374dupCA658821770SLC17A5c.1327dup (p.Ile443AsnfsTer3)
c.1276dup (p.Ile426AsnfsTer3)
c.1129dup (p.Ile377AsnfsTer3)
c.1179dup (p.Leu394IlefsTer?)
c.1096dup (p.Ile366AsnfsTer3)
c.1260-5160dup (n.1260-5160dup)
c.1348dup (p.Ile450AsnfsTer3)
c.1240dup (p.Ile414AsnfsTer3)
c.1168dup (p.Ile390AsnfsTer3)
c.1324dup (p.Ile442AsnfsTer3)
c.1009dup (p.Ile337AsnfsTer3)
 ClinVar dbSNP
6g.73600375G>ACA450912590SLC17A5c.1326C>T (p.Val442=)
c.1275C>T (p.Val425=)
c.1128C>T (p.Val376=)
c.1178C>T (p.Ser393Leu)
c.1095C>T (p.Val365=)
c.1260-5161C>T (n.1260-5161C>T)
c.1347C>T (p.Val449=)
c.1239C>T (p.Val413=)
c.1167C>T (p.Val389=)
c.1323C>T (p.Val441=)
c.1008C>T (p.Val336=)
 ClinVar
6g.73600375G>CCA450912591SLC17A5c.1326C>G (p.Val442=)
c.1275C>G (p.Val425=)
c.1128C>G (p.Val376=)
c.1178C>G (p.Ser393Ter)
c.1095C>G (p.Val365=)
c.1260-5161C>G (n.1260-5161C>G)
c.1347C>G (p.Val449=)
c.1239C>G (p.Val413=)
c.1167C>G (p.Val389=)
c.1323C>G (p.Val441=)
c.1008C>G (p.Val336=)
 dbSNP gnomAD v3 gnomAD v4
6g.73600375G=CA1638223838SLC17A5c.1326C= (p.Val442=)
c.1275C= (p.Val425=)
c.1128C= (p.Val376=)
c.1178C= (p.Ser393=)
c.1095C= (p.Val365=)
c.1260-5161C= (n.1260-5161C=)
c.1347C= (p.Val449=)
c.1239C= (p.Val413=)
c.1167C= (p.Val389=)
c.1323C= (p.Val441=)
c.1008C= (p.Val336=)
6g.73600375G>TCA450912593SLC17A5c.1326C>A (p.Val442=)
c.1275C>A (p.Val425=)
c.1128C>A (p.Val376=)
c.1178C>A (p.Ser393Ter)
c.1095C>A (p.Val365=)
c.1260-5161C>A (n.1260-5161C>A)
c.1347C>A (p.Val449=)
c.1239C>A (p.Val413=)
c.1167C>A (p.Val389=)
c.1323C>A (p.Val441=)
c.1008C>A (p.Val336=)
6g.73600376A=CA1638223844SLC17A5c.1325T= (p.Val442=)
c.1274T= (p.Val425=)
c.1127T= (p.Val376=)
c.1177T= (p.Ser393=)
c.1094T= (p.Val365=)
c.1260-5162T= (n.1260-5162T=)
c.1346T= (p.Val449=)
c.1238T= (p.Val413=)
c.1166T= (p.Val389=)
c.1322T= (p.Val441=)
c.1007T= (p.Val336=)
6g.73600376A>CCA364719975SLC17A5c.1325T>G (p.Val442Gly)
c.1274T>G (p.Val425Gly)
c.1127T>G (p.Val376Gly)
c.1177T>G (p.Ser393Ala)
c.1094T>G (p.Val365Gly)
c.1260-5162T>G (n.1260-5162T>G)
c.1346T>G (p.Val449Gly)
c.1238T>G (p.Val413Gly)
c.1166T>G (p.Val389Gly)
c.1322T>G (p.Val441Gly)
c.1007T>G (p.Val336Gly)
6g.73600376A>GCA3890289SLC17A5c.1325T>C (p.Val442Ala)
c.1274T>C (p.Val425Ala)
c.1127T>C (p.Val376Ala)
c.1177T>C (p.Ser393Pro)
c.1094T>C (p.Val365Ala)
c.1260-5162T>C (n.1260-5162T>C)
c.1346T>C (p.Val449Ala)
c.1238T>C (p.Val413Ala)
c.1166T>C (p.Val389Ala)
c.1322T>C (p.Val441Ala)
c.1007T>C (p.Val336Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600376A>TCA364719974SLC17A5c.1325T>A (p.Val442Asp)
c.1274T>A (p.Val425Asp)
c.1127T>A (p.Val376Asp)
c.1177T>A (p.Ser393Thr)
c.1094T>A (p.Val365Asp)
c.1260-5162T>A (n.1260-5162T>A)
c.1346T>A (p.Val449Asp)
c.1238T>A (p.Val413Asp)
c.1166T>A (p.Val389Asp)
c.1322T>A (p.Val441Asp)
c.1007T>A (p.Val336Asp)
6g.73600377C>ACA364719977SLC17A5c.1324G>T (p.Val442Phe)
c.1273G>T (p.Val425Phe)
c.1126G>T (p.Val376Phe)
c.1176G>T (p.Pro392=)
c.1093G>T (p.Val365Phe)
c.1260-5163G>T (n.1260-5163G>T)
c.1345G>T (p.Val449Phe)
c.1237G>T (p.Val413Phe)
c.1165G>T (p.Val389Phe)
c.1321G>T (p.Val441Phe)
c.1006G>T (p.Val336Phe)
6g.73600377C=CA1638223851SLC17A5c.1324G= (p.Val442=)
c.1273G= (p.Val425=)
c.1126G= (p.Val376=)
c.1176G= (p.Pro392=)
c.1093G= (p.Val365=)
c.1260-5163G= (n.1260-5163G=)
c.1345G= (p.Val449=)
c.1237G= (p.Val413=)
c.1165G= (p.Val389=)
c.1321G= (p.Val441=)
c.1006G= (p.Val336=)
6g.73600377C>GCA364719976SLC17A5c.1324G>C (p.Val442Leu)
c.1273G>C (p.Val425Leu)
c.1126G>C (p.Val376Leu)
c.1176G>C (p.Pro392=)
c.1093G>C (p.Val365Leu)
c.1260-5163G>C (n.1260-5163G>C)
c.1345G>C (p.Val449Leu)
c.1237G>C (p.Val413Leu)
c.1165G>C (p.Val389Leu)
c.1321G>C (p.Val441Leu)
c.1006G>C (p.Val336Leu)
6g.73600377C>TCA3890290SLC17A5c.1324G>A (p.Val442Ile)
c.1273G>A (p.Val425Ile)
c.1126G>A (p.Val376Ile)
c.1176G>A (p.Pro392=)
c.1093G>A (p.Val365Ile)
c.1260-5163G>A (n.1260-5163G>A)
c.1345G>A (p.Val449Ile)
c.1237G>A (p.Val413Ile)
c.1165G>A (p.Val389Ile)
c.1321G>A (p.Val441Ile)
c.1006G>A (p.Val336Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73600378G>ACA140972088SLC17A5c.1323C>T (p.Pro441=)
c.1272C>T (p.Pro424=)
c.1125C>T (p.Pro375=)
c.1175C>T (p.Pro392Leu)
c.1092C>T (p.Pro364=)
c.1260-5164C>T (n.1260-5164C>T)
c.1344C>T (p.Pro448=)
c.1236C>T (p.Pro412=)
c.1164C>T (p.Pro388=)
c.1320C>T (p.Pro440=)
c.1005C>T (p.Pro335=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.73600378G>CCA450912598SLC17A5c.1323C>G (p.Pro441=)
c.1272C>G (p.Pro424=)
c.1125C>G (p.Pro375=)
c.1175C>G (p.Pro392Arg)
c.1092C>G (p.Pro364=)
c.1260-5164C>G (n.1260-5164C>G)
c.1344C>G (p.Pro448=)
c.1236C>G (p.Pro412=)
c.1164C>G (p.Pro388=)
c.1320C>G (p.Pro440=)
c.1005C>G (p.Pro335=)
 gnomAD v4
6g.73600378G=CA1638223856SLC17A5c.1323C= (p.Pro441=)
c.1272C= (p.Pro424=)
c.1125C= (p.Pro375=)
c.1175C= (p.Pro392=)
c.1092C= (p.Pro364=)
c.1260-5164C= (n.1260-5164C=)
c.1344C= (p.Pro448=)
c.1236C= (p.Pro412=)
c.1164C= (p.Pro388=)
c.1320C= (p.Pro440=)
c.1005C= (p.Pro335=)
6g.73600378G>TCA450912600SLC17A5c.1323C>A (p.Pro441=)
c.1272C>A (p.Pro424=)
c.1125C>A (p.Pro375=)
c.1175C>A (p.Pro392Gln)
c.1092C>A (p.Pro364=)
c.1260-5164C>A (n.1260-5164C>A)
c.1344C>A (p.Pro448=)
c.1236C>A (p.Pro412=)
c.1164C>A (p.Pro388=)
c.1320C>A (p.Pro440=)
c.1005C>A (p.Pro335=)
6g.73600379G>ACA364719978SLC17A5c.1322C>T (p.Pro441Leu)
c.1271C>T (p.Pro424Leu)
c.1124C>T (p.Pro375Leu)
c.1174C>T (p.Pro392Ser)
c.1091C>T (p.Pro364Leu)
c.1260-5165C>T (n.1260-5165C>T)
c.1343C>T (p.Pro448Leu)
c.1235C>T (p.Pro412Leu)
c.1163C>T (p.Pro388Leu)
c.1319C>T (p.Pro440Leu)
c.1004C>T (p.Pro335Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73600379G>CCA364719979SLC17A5c.1322C>G (p.Pro441Arg)
c.1271C>G (p.Pro424Arg)
c.1124C>G (p.Pro375Arg)
c.1174C>G (p.Pro392Ala)
c.1091C>G (p.Pro364Arg)
c.1260-5165C>G (n.1260-5165C>G)
c.1343C>G (p.Pro448Arg)
c.1235C>G (p.Pro412Arg)
c.1163C>G (p.Pro388Arg)
c.1319C>G (p.Pro440Arg)
c.1004C>G (p.Pro335Arg)
6g.73600379G=CA1638223859SLC17A5c.1322C= (p.Pro441=)
c.1271C= (p.Pro424=)
c.1124C= (p.Pro375=)
c.1174C= (p.Pro392=)
c.1091C= (p.Pro364=)
c.1260-5165C= (n.1260-5165C=)
c.1343C= (p.Pro448=)
c.1235C= (p.Pro412=)
c.1163C= (p.Pro388=)
c.1319C= (p.Pro440=)
c.1004C= (p.Pro335=)
6g.73600379G>TCA364719980SLC17A5c.1322C>A (p.Pro441His)
c.1271C>A (p.Pro424His)
c.1124C>A (p.Pro375His)
c.1174C>A (p.Pro392Thr)
c.1091C>A (p.Pro364His)
c.1260-5165C>A (n.1260-5165C>A)
c.1343C>A (p.Pro448His)
c.1235C>A (p.Pro412His)
c.1163C>A (p.Pro388His)
c.1319C>A (p.Pro440His)
c.1004C>A (p.Pro335His)
6g.73600380G>ACA364719981SLC17A5c.1321C>T (p.Pro441Ser)
c.1270C>T (p.Pro424Ser)
c.1123C>T (p.Pro375Ser)
c.1173C>T (p.Gly391=)
c.1090C>T (p.Pro364Ser)
c.1260-5166C>T (n.1260-5166C>T)
c.1342C>T (p.Pro448Ser)
c.1234C>T (p.Pro412Ser)
c.1162C>T (p.Pro388Ser)
c.1318C>T (p.Pro440Ser)
c.1003C>T (p.Pro335Ser)
 dbSNP
6g.73600380G>CCA364719982SLC17A5c.1321C>G (p.Pro441Ala)
c.1270C>G (p.Pro424Ala)
c.1123C>G (p.Pro375Ala)
c.1173C>G (p.Gly391=)
c.1090C>G (p.Pro364Ala)
c.1260-5166C>G (n.1260-5166C>G)
c.1342C>G (p.Pro448Ala)
c.1234C>G (p.Pro412Ala)
c.1162C>G (p.Pro388Ala)
c.1318C>G (p.Pro440Ala)
c.1003C>G (p.Pro335Ala)
6g.73600380G=CA1638223865SLC17A5c.1321C= (p.Pro441=)
c.1270C= (p.Pro424=)
c.1123C= (p.Pro375=)
c.1173C= (p.Gly391=)
c.1090C= (p.Pro364=)
c.1260-5166C= (n.1260-5166C=)
c.1342C= (p.Pro448=)
c.1234C= (p.Pro412=)
c.1162C= (p.Pro388=)
c.1318C= (p.Pro440=)
c.1003C= (p.Pro335=)
6g.73600380G>TCA364719983SLC17A5c.1321C>A (p.Pro441Thr)
c.1270C>A (p.Pro424Thr)
c.1123C>A (p.Pro375Thr)
c.1173C>A (p.Gly391=)
c.1090C>A (p.Pro364Thr)
c.1260-5166C>A (n.1260-5166C>A)
c.1342C>A (p.Pro448Thr)
c.1234C>A (p.Pro412Thr)
c.1162C>A (p.Pro388Thr)
c.1318C>A (p.Pro440Thr)
c.1003C>A (p.Pro335Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.73600381C>ACA450912607SLC17A5c.1320G>T (p.Gly440=)
c.1269G>T (p.Gly423=)
c.1122G>T (p.Gly374=)
c.1172G>T (p.Gly391Val)
c.1089G>T (p.Gly363=)
c.1260-5167G>T (n.1260-5167G>T)
c.1341G>T (p.Gly447=)
c.1233G>T (p.Gly411=)
c.1161G>T (p.Gly387=)
c.1317G>T (p.Gly439=)
c.1002G>T (p.Gly334=)
6g.73600381C=CA1638223870SLC17A5c.1320G= (p.Gly440=)
c.1269G= (p.Gly423=)
c.1122G= (p.Gly374=)
c.1172G= (p.Gly391=)
c.1089G= (p.Gly363=)
c.1260-5167G= (n.1260-5167G=)
c.1341G= (p.Gly447=)
c.1233G= (p.Gly411=)
c.1161G= (p.Gly387=)
c.1317G= (p.Gly439=)
c.1002G= (p.Gly334=)
6g.73600381C>GCA450912608SLC17A5c.1320G>C (p.Gly440=)
c.1269G>C (p.Gly423=)
c.1122G>C (p.Gly374=)
c.1172G>C (p.Gly391Ala)
c.1089G>C (p.Gly363=)
c.1260-5167G>C (n.1260-5167G>C)
c.1341G>C (p.Gly447=)
c.1233G>C (p.Gly411=)
c.1161G>C (p.Gly387=)
c.1317G>C (p.Gly439=)
c.1002G>C (p.Gly334=)
 ClinVar dbSNP
6g.73600381C>TCA3890291SLC17A5c.1320G>A (p.Gly440=)
c.1269G>A (p.Gly423=)
c.1122G>A (p.Gly374=)
c.1172G>A (p.Gly391Asp)
c.1089G>A (p.Gly363=)
c.1260-5167G>A (n.1260-5167G>A)
c.1341G>A (p.Gly447=)
c.1233G>A (p.Gly411=)
c.1161G>A (p.Gly387=)
c.1317G>A (p.Gly439=)
c.1002G>A (p.Gly334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73600382C>ACA364719984SLC17A5c.1319G>T (p.Gly440Val)
c.1268G>T (p.Gly423Val)
c.1121G>T (p.Gly374Val)
c.1171G>T (p.Gly391Cys)
c.1088G>T (p.Gly363Val)
c.1260-5168G>T (n.1260-5168G>T)
c.1340G>T (p.Gly447Val)
c.1232G>T (p.Gly411Val)
c.1160G>T (p.Gly387Val)
c.1316G>T (p.Gly439Val)
c.1001G>T (p.Gly334Val)
6g.73600382C>GCA364719985SLC17A5c.1319G>C (p.Gly440Ala)
c.1268G>C (p.Gly423Ala)
c.1121G>C (p.Gly374Ala)
c.1171G>C (p.Gly391Arg)
c.1088G>C (p.Gly363Ala)
c.1260-5168G>C (n.1260-5168G>C)
c.1340G>C (p.Gly447Ala)
c.1232G>C (p.Gly411Ala)
c.1160G>C (p.Gly387Ala)
c.1316G>C (p.Gly439Ala)
c.1001G>C (p.Gly334Ala)
6g.73600382C>TCA364719986SLC17A5c.1319G>A (p.Gly440Glu)
c.1268G>A (p.Gly423Glu)
c.1121G>A (p.Gly374Glu)
c.1171G>A (p.Gly391Ser)
c.1088G>A (p.Gly363Glu)
c.1260-5168G>A (n.1260-5168G>A)
c.1340G>A (p.Gly447Glu)
c.1232G>A (p.Gly411Glu)
c.1160G>A (p.Gly387Glu)
c.1316G>A (p.Gly439Glu)
c.1001G>A (p.Gly334Glu)
6g.73600383C>ACA364719988SLC17A5c.1318G>T (p.Gly440Trp)
c.1267G>T (p.Gly423Trp)
c.1120G>T (p.Gly374Trp)
c.1170G>T (p.Leu390Phe)
c.1087G>T (p.Gly363Trp)
c.1260-5169G>T (n.1260-5169G>T)
c.1339G>T (p.Gly447Trp)
c.1231G>T (p.Gly411Trp)
c.1159G>T (p.Gly387Trp)
c.1315G>T (p.Gly439Trp)
c.1000G>T (p.Gly334Trp)
6g.73600383C=CA1638223874SLC17A5c.1318G= (p.Gly440=)
c.1267G= (p.Gly423=)
c.1120G= (p.Gly374=)
c.1170G= (p.Leu390=)
c.1087G= (p.Gly363=)
c.1260-5169G= (n.1260-5169G=)
c.1339G= (p.Gly447=)
c.1231G= (p.Gly411=)
c.1159G= (p.Gly387=)
c.1315G= (p.Gly439=)
c.1000G= (p.Gly334=)
6g.73600383C>GCA364719987SLC17A5c.1318G>C (p.Gly440Arg)
c.1267G>C (p.Gly423Arg)
c.1120G>C (p.Gly374Arg)
c.1170G>C (p.Leu390Phe)
c.1087G>C (p.Gly363Arg)
c.1260-5169G>C (n.1260-5169G>C)
c.1339G>C (p.Gly447Arg)
c.1231G>C (p.Gly411Arg)
c.1159G>C (p.Gly387Arg)
c.1315G>C (p.Gly439Arg)
c.1000G>C (p.Gly334Arg)
6g.73600383C>TCA3890292SLC17A5c.1318G>A (p.Gly440Arg)
c.1267G>A (p.Gly423Arg)
c.1120G>A (p.Gly374Arg)
c.1170G>A (p.Leu390=)
c.1087G>A (p.Gly363Arg)
c.1260-5169G>A (n.1260-5169G>A)
c.1339G>A (p.Gly447Arg)
c.1231G>A (p.Gly411Arg)
c.1159G>A (p.Gly387Arg)
c.1315G>A (p.Gly439Arg)
c.1000G>A (p.Gly334Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600384A>CCA450912615SLC17A5c.1317T>G (p.Val439=)
c.1266T>G (p.Val422=)
c.1119T>G (p.Val373=)
c.1169T>G (p.Leu390Trp)
c.1086T>G (p.Val362=)
c.1260-5170T>G (n.1260-5170T>G)
c.1338T>G (p.Val446=)
c.1230T>G (p.Val410=)
c.1158T>G (p.Val386=)
c.1314T>G (p.Val438=)
c.999T>G (p.Val333=)
6g.73600384A>GCA450912614SLC17A5c.1317T>C (p.Val439=)
c.1266T>C (p.Val422=)
c.1119T>C (p.Val373=)
c.1169T>C (p.Leu390Ser)
c.1086T>C (p.Val362=)
c.1260-5170T>C (n.1260-5170T>C)
c.1338T>C (p.Val446=)
c.1230T>C (p.Val410=)
c.1158T>C (p.Val386=)
c.1314T>C (p.Val438=)
c.999T>C (p.Val333=)
 ClinVar gnomAD v4
6g.73600384A>TCA450912613SLC17A5c.1317T>A (p.Val439=)
c.1266T>A (p.Val422=)
c.1119T>A (p.Val373=)
c.1169T>A (p.Leu390Ter)
c.1086T>A (p.Val362=)
c.1260-5170T>A (n.1260-5170T>A)
c.1338T>A (p.Val446=)
c.1230T>A (p.Val410=)
c.1158T>A (p.Val386=)
c.1314T>A (p.Val438=)
c.999T>A (p.Val333=)
6g.73600385A=CA1638223878SLC17A5c.1316T= (p.Val439=)
c.1265T= (p.Val422=)
c.1118T= (p.Val373=)
c.1168T= (p.Leu390=)
c.1085T= (p.Val362=)
c.1260-5171T= (n.1260-5171T=)
c.1337T= (p.Val446=)
c.1229T= (p.Val410=)
c.1157T= (p.Val386=)
c.1313T= (p.Val438=)
c.998T= (p.Val333=)
6g.73600385A>CCA364719989SLC17A5c.1316T>G (p.Val439Gly)
c.1265T>G (p.Val422Gly)
c.1118T>G (p.Val373Gly)
c.1168T>G (p.Leu390Val)
c.1085T>G (p.Val362Gly)
c.1260-5171T>G (n.1260-5171T>G)
c.1337T>G (p.Val446Gly)
c.1229T>G (p.Val410Gly)
c.1157T>G (p.Val386Gly)
c.1313T>G (p.Val438Gly)
c.998T>G (p.Val333Gly)
6g.73600385A>GCA3890293SLC17A5c.1316T>C (p.Val439Ala)
c.1265T>C (p.Val422Ala)
c.1118T>C (p.Val373Ala)
c.1168T>C (p.Leu390=)
c.1085T>C (p.Val362Ala)
c.1260-5171T>C (n.1260-5171T>C)
c.1337T>C (p.Val446Ala)
c.1229T>C (p.Val410Ala)
c.1157T>C (p.Val386Ala)
c.1313T>C (p.Val438Ala)
c.998T>C (p.Val333Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73600385A>TCA3890294SLC17A5c.1316T>A (p.Val439Asp)
c.1265T>A (p.Val422Asp)
c.1118T>A (p.Val373Asp)
c.1168T>A (p.Leu390Met)
c.1085T>A (p.Val362Asp)
c.1260-5171T>A (n.1260-5171T>A)
c.1337T>A (p.Val446Asp)
c.1229T>A (p.Val410Asp)
c.1157T>A (p.Val386Asp)
c.1313T>A (p.Val438Asp)
c.998T>A (p.Val333Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600386C>ACA364719990SLC17A5c.1315G>T (p.Val439Phe)
c.1264G>T (p.Val422Phe)
c.1117G>T (p.Val373Phe)
c.1167G>T (p.Trp389Cys)
c.1084G>T (p.Val362Phe)
c.1260-5172G>T (n.1260-5172G>T)
c.1336G>T (p.Val446Phe)
c.1228G>T (p.Val410Phe)
c.1156G>T (p.Val386Phe)
c.1312G>T (p.Val438Phe)
c.997G>T (p.Val333Phe)
6g.73600386C>GCA364719991SLC17A5c.1315G>C (p.Val439Leu)
c.1264G>C (p.Val422Leu)
c.1117G>C (p.Val373Leu)
c.1167G>C (p.Trp389Cys)
c.1084G>C (p.Val362Leu)
c.1260-5172G>C (n.1260-5172G>C)
c.1336G>C (p.Val446Leu)
c.1228G>C (p.Val410Leu)
c.1156G>C (p.Val386Leu)
c.1312G>C (p.Val438Leu)
c.997G>C (p.Val333Leu)
6g.73600386C>TCA364719992SLC17A5c.1315G>A (p.Val439Ile)
c.1264G>A (p.Val422Ile)
c.1117G>A (p.Val373Ile)
c.1167G>A (p.Trp389Ter)
c.1084G>A (p.Val362Ile)
c.1260-5172G>A (n.1260-5172G>A)
c.1336G>A (p.Val446Ile)
c.1228G>A (p.Val410Ile)
c.1156G>A (p.Val386Ile)
c.1312G>A (p.Val438Ile)
c.997G>A (p.Val333Ile)
 gnomAD v4
6g.73600387C>ACA364719993SLC17A5c.1314G>T (p.Met438Ile)
c.1263G>T (p.Met421Ile)
c.1116G>T (p.Met372Ile)
c.1166G>T (p.Trp389Leu)
c.1083G>T (p.Met361Ile)
c.1260-5173G>T (n.1260-5173G>T)
c.1335G>T (p.Met445Ile)
c.1227G>T (p.Met409Ile)
c.1155G>T (p.Met385Ile)
c.1311G>T (p.Met437Ile)
c.996G>T (p.Met332Ile)
6g.73600387C>GCA364719994SLC17A5c.1314G>C (p.Met438Ile)
c.1263G>C (p.Met421Ile)
c.1116G>C (p.Met372Ile)
c.1166G>C (p.Trp389Ser)
c.1083G>C (p.Met361Ile)
c.1260-5173G>C (n.1260-5173G>C)
c.1335G>C (p.Met445Ile)
c.1227G>C (p.Met409Ile)
c.1155G>C (p.Met385Ile)
c.1311G>C (p.Met437Ile)
c.996G>C (p.Met332Ile)
6g.73600387C>TCA364719995SLC17A5c.1314G>A (p.Met438Ile)
c.1263G>A (p.Met421Ile)
c.1116G>A (p.Met372Ile)
c.1166G>A (p.Trp389Ter)
c.1083G>A (p.Met361Ile)
c.1260-5173G>A (n.1260-5173G>A)
c.1335G>A (p.Met445Ile)
c.1227G>A (p.Met409Ile)
c.1155G>A (p.Met385Ile)
c.1311G>A (p.Met437Ile)
c.996G>A (p.Met332Ile)
6g.73600388A>CCA364719996SLC17A5c.1313T>G (p.Met438Arg)
c.1262T>G (p.Met421Arg)
c.1115T>G (p.Met372Arg)
c.1165T>G (p.Trp389Gly)
c.1082T>G (p.Met361Arg)
c.1260-5174T>G (n.1260-5174T>G)
c.1334T>G (p.Met445Arg)
c.1226T>G (p.Met409Arg)
c.1154T>G (p.Met385Arg)
c.1310T>G (p.Met437Arg)
c.995T>G (p.Met332Arg)
6g.73600388A>GCA364719997SLC17A5c.1313T>C (p.Met438Thr)
c.1262T>C (p.Met421Thr)
c.1115T>C (p.Met372Thr)
c.1165T>C (p.Trp389Arg)
c.1082T>C (p.Met361Thr)
c.1260-5174T>C (n.1260-5174T>C)
c.1334T>C (p.Met445Thr)
c.1226T>C (p.Met409Thr)
c.1154T>C (p.Met385Thr)
c.1310T>C (p.Met437Thr)
c.995T>C (p.Met332Thr)
 gnomAD v4
6g.73600388A>TCA364719998SLC17A5c.1313T>A (p.Met438Lys)
c.1262T>A (p.Met421Lys)
c.1115T>A (p.Met372Lys)
c.1165T>A (p.Trp389Arg)
c.1082T>A (p.Met361Lys)
c.1260-5174T>A (n.1260-5174T>A)
c.1334T>A (p.Met445Lys)
c.1226T>A (p.Met409Lys)
c.1154T>A (p.Met385Lys)
c.1310T>A (p.Met437Lys)
c.995T>A (p.Met332Lys)
6g.73600389T>ACA364720000SLC17A5c.1312A>T (p.Met438Leu)
c.1261A>T (p.Met421Leu)
c.1114A>T (p.Met372Leu)
c.1164A>T (p.Glu388Asp)
c.1081A>T (p.Met361Leu)
c.1260-5175A>T (n.1260-5175A>T)
c.1333A>T (p.Met445Leu)
c.1225A>T (p.Met409Leu)
c.1153A>T (p.Met385Leu)
c.1309A>T (p.Met437Leu)
c.994A>T (p.Met332Leu)
6g.73600389T>CCA364720001SLC17A5c.1312A>G (p.Met438Val)
c.1261A>G (p.Met421Val)
c.1114A>G (p.Met372Val)
c.1164A>G (p.Glu388=)
c.1081A>G (p.Met361Val)
c.1260-5175A>G (n.1260-5175A>G)
c.1333A>G (p.Met445Val)
c.1225A>G (p.Met409Val)
c.1153A>G (p.Met385Val)
c.1309A>G (p.Met437Val)
c.994A>G (p.Met332Val)
6g.73600389T>GCA364719999SLC17A5c.1312A>C (p.Met438Leu)
c.1261A>C (p.Met421Leu)
c.1114A>C (p.Met372Leu)
c.1164A>C (p.Glu388Asp)
c.1081A>C (p.Met361Leu)
c.1260-5175A>C (n.1260-5175A>C)
c.1333A>C (p.Met445Leu)
c.1225A>C (p.Met409Leu)
c.1153A>C (p.Met385Leu)
c.1309A>C (p.Met437Leu)
c.994A>C (p.Met332Leu)
6g.73600390T>ACA450912627SLC17A5c.1311A>T (p.Gly437=)
c.1260A>T (p.Gly420=)
c.1113A>T (p.Gly371=)
c.1163A>T (p.Glu388Val)
c.1080A>T (p.Gly360=)
c.1260-5176A>T (n.1260-5176A>T)
c.1332A>T (p.Gly444=)
c.1224A>T (p.Gly408=)
c.1152A>T (p.Gly384=)
c.1308A>T (p.Gly436=)
c.993A>T (p.Gly331=)
6g.73600390T>CCA450912630SLC17A5c.1311A>G (p.Gly437=)
c.1260A>G (p.Gly420=)
c.1113A>G (p.Gly371=)
c.1163A>G (p.Glu388Gly)
c.1080A>G (p.Gly360=)
c.1260-5176A>G (n.1260-5176A>G)
c.1332A>G (p.Gly444=)
c.1224A>G (p.Gly408=)
c.1152A>G (p.Gly384=)
c.1308A>G (p.Gly436=)
c.993A>G (p.Gly331=)
6g.73600390T>GCA450912629SLC17A5c.1311A>C (p.Gly437=)
c.1260A>C (p.Gly420=)
c.1113A>C (p.Gly371=)
c.1163A>C (p.Glu388Ala)
c.1080A>C (p.Gly360=)
c.1260-5176A>C (n.1260-5176A>C)
c.1332A>C (p.Gly444=)
c.1224A>C (p.Gly408=)
c.1152A>C (p.Gly384=)
c.1308A>C (p.Gly436=)
c.993A>C (p.Gly331=)
6g.73600391C>ACA364720002SLC17A5c.1310G>T (p.Gly437Val)
c.1259G>T (p.Gly420Val)
c.1112G>T (p.Gly371Val)
c.1162G>T (p.Glu388Ter)
c.1079G>T (p.Gly360Val)
c.1260-5177G>T (n.1260-5177G>T)
c.1331G>T (p.Gly444Val)
c.1223G>T (p.Gly408Val)
c.1151G>T (p.Gly384Val)
c.1307G>T (p.Gly436Val)
c.992G>T (p.Gly331Val)
6g.73600391C>GCA364720003SLC17A5c.1310G>C (p.Gly437Ala)
c.1259G>C (p.Gly420Ala)
c.1112G>C (p.Gly371Ala)
c.1162G>C (p.Glu388Gln)
c.1079G>C (p.Gly360Ala)
c.1260-5177G>C (n.1260-5177G>C)
c.1331G>C (p.Gly444Ala)
c.1223G>C (p.Gly408Ala)
c.1151G>C (p.Gly384Ala)
c.1307G>C (p.Gly436Ala)
c.992G>C (p.Gly331Ala)
6g.73600391C>TCA364720004SLC17A5c.1310G>A (p.Gly437Glu)
c.1259G>A (p.Gly420Glu)
c.1112G>A (p.Gly371Glu)
c.1162G>A (p.Glu388Lys)
c.1079G>A (p.Gly360Glu)
c.1260-5177G>A (n.1260-5177G>A)
c.1331G>A (p.Gly444Glu)
c.1223G>A (p.Gly408Glu)
c.1151G>A (p.Gly384Glu)
c.1307G>A (p.Gly436Glu)
c.992G>A (p.Gly331Glu)
6g.73600392C>ACA364720005SLC17A5c.1309G>T (p.Gly437Ter)
c.1258G>T (p.Gly420Ter)
c.1111G>T (p.Gly371Ter)
c.1161G>T (p.Gln387His)
c.1078G>T (p.Gly360Ter)
c.1260-5178G>T (n.1260-5178G>T)
c.1330G>T (p.Gly444Ter)
c.1222G>T (p.Gly408Ter)
c.1150G>T (p.Gly384Ter)
c.1306G>T (p.Gly436Ter)
c.991G>T (p.Gly331Ter)
6g.73600392C>GCA364720006SLC17A5c.1309G>C (p.Gly437Arg)
c.1258G>C (p.Gly420Arg)
c.1111G>C (p.Gly371Arg)
c.1161G>C (p.Gln387His)
c.1078G>C (p.Gly360Arg)
c.1260-5178G>C (n.1260-5178G>C)
c.1330G>C (p.Gly444Arg)
c.1222G>C (p.Gly408Arg)
c.1150G>C (p.Gly384Arg)
c.1306G>C (p.Gly436Arg)
c.991G>C (p.Gly331Arg)
6g.73600392C>TCA364720007SLC17A5c.1309G>A (p.Gly437Arg)
c.1258G>A (p.Gly420Arg)
c.1111G>A (p.Gly371Arg)
c.1161G>A (p.Gln387=)
c.1078G>A (p.Gly360Arg)
c.1260-5178G>A (n.1260-5178G>A)
c.1330G>A (p.Gly444Arg)
c.1222G>A (p.Gly408Arg)
c.1150G>A (p.Gly384Arg)
c.1306G>A (p.Gly436Arg)
c.991G>A (p.Gly331Arg)
6g.73600393T>ACA450912631SLC17A5c.1308A>T (p.Pro436=)
c.1257A>T (p.Pro419=)
c.1110A>T (p.Pro370=)
c.1160A>T (p.Gln387Leu)
c.1077A>T (p.Pro359=)
c.1260-5179A>T (n.1260-5179A>T)
c.1329A>T (p.Pro443=)
c.1221A>T (p.Pro407=)
c.1149A>T (p.Pro383=)
c.1305A>T (p.Pro435=)
c.990A>T (p.Pro330=)
6g.73600393T>CCA450912632SLC17A5c.1308A>G (p.Pro436=)
c.1257A>G (p.Pro419=)
c.1110A>G (p.Pro370=)
c.1160A>G (p.Gln387Arg)
c.1077A>G (p.Pro359=)
c.1260-5179A>G (n.1260-5179A>G)
c.1329A>G (p.Pro443=)
c.1221A>G (p.Pro407=)
c.1149A>G (p.Pro383=)
c.1305A>G (p.Pro435=)
c.990A>G (p.Pro330=)
6g.73600393T>GCA450912633SLC17A5c.1308A>C (p.Pro436=)
c.1257A>C (p.Pro419=)
c.1110A>C (p.Pro370=)
c.1160A>C (p.Gln387Pro)
c.1077A>C (p.Pro359=)
c.1260-5179A>C (n.1260-5179A>C)
c.1329A>C (p.Pro443=)
c.1221A>C (p.Pro407=)
c.1149A>C (p.Pro383=)
c.1305A>C (p.Pro435=)
c.990A>C (p.Pro330=)
6g.73600394G>ACA364720008SLC17A5c.1307C>T (p.Pro436Leu)
c.1256C>T (p.Pro419Leu)
c.1109C>T (p.Pro370Leu)
c.1159C>T (p.Gln387Ter)
c.1076C>T (p.Pro359Leu)
c.1260-5180C>T (n.1260-5180C>T)
c.1328C>T (p.Pro443Leu)
c.1220C>T (p.Pro407Leu)
c.1148C>T (p.Pro383Leu)
c.1304C>T (p.Pro435Leu)
c.989C>T (p.Pro330Leu)
6g.73600394G>CCA364720009SLC17A5c.1307C>G (p.Pro436Arg)
c.1256C>G (p.Pro419Arg)
c.1109C>G (p.Pro370Arg)
c.1159C>G (p.Gln387Glu)
c.1076C>G (p.Pro359Arg)
c.1260-5180C>G (n.1260-5180C>G)
c.1328C>G (p.Pro443Arg)
c.1220C>G (p.Pro407Arg)
c.1148C>G (p.Pro383Arg)
c.1304C>G (p.Pro435Arg)
c.989C>G (p.Pro330Arg)
 dbSNP
6g.73600394G=CA1638223881SLC17A5c.1307C= (p.Pro436=)
c.1256C= (p.Pro419=)
c.1109C= (p.Pro370=)
c.1159C= (p.Gln387=)
c.1076C= (p.Pro359=)
c.1260-5180C= (n.1260-5180C=)
c.1328C= (p.Pro443=)
c.1220C= (p.Pro407=)
c.1148C= (p.Pro383=)
c.1304C= (p.Pro435=)
c.989C= (p.Pro330=)
6g.73600394G>TCA364720010SLC17A5c.1307C>A (p.Pro436Gln)
c.1256C>A (p.Pro419Gln)
c.1109C>A (p.Pro370Gln)
c.1159C>A (p.Gln387Lys)
c.1076C>A (p.Pro359Gln)
c.1260-5180C>A (n.1260-5180C>A)
c.1328C>A (p.Pro443Gln)
c.1220C>A (p.Pro407Gln)
c.1148C>A (p.Pro383Gln)
c.1304C>A (p.Pro435Gln)
c.989C>A (p.Pro330Gln)
6g.73600395G>ACA364720011SLC17A5c.1306C>T (p.Pro436Ser)
c.1255C>T (p.Pro419Ser)
c.1108C>T (p.Pro370Ser)
c.1158C>T (p.Phe386=)
c.1075C>T (p.Pro359Ser)
c.1260-5181C>T (n.1260-5181C>T)
c.1327C>T (p.Pro443Ser)
c.1219C>T (p.Pro407Ser)
c.1147C>T (p.Pro383Ser)
c.1303C>T (p.Pro435Ser)
c.988C>T (p.Pro330Ser)
 gnomAD v4
6g.73600395G>CCA364720012SLC17A5c.1306C>G (p.Pro436Ala)
c.1255C>G (p.Pro419Ala)
c.1108C>G (p.Pro370Ala)
c.1158C>G (p.Phe386Leu)
c.1075C>G (p.Pro359Ala)
c.1260-5181C>G (n.1260-5181C>G)
c.1327C>G (p.Pro443Ala)
c.1219C>G (p.Pro407Ala)
c.1147C>G (p.Pro383Ala)
c.1303C>G (p.Pro435Ala)
c.988C>G (p.Pro330Ala)
 dbSNP
6g.73600395G=CA1638223886SLC17A5c.1306C= (p.Pro436=)
c.1255C= (p.Pro419=)
c.1108C= (p.Pro370=)
c.1158C= (p.Phe386=)
c.1075C= (p.Pro359=)
c.1260-5181C= (n.1260-5181C=)
c.1327C= (p.Pro443=)
c.1219C= (p.Pro407=)
c.1147C= (p.Pro383=)
c.1303C= (p.Pro435=)
c.988C= (p.Pro330=)
6g.73600395G>TCA364720013SLC17A5c.1306C>A (p.Pro436Thr)
c.1255C>A (p.Pro419Thr)
c.1108C>A (p.Pro370Thr)
c.1158C>A (p.Phe386Leu)
c.1075C>A (p.Pro359Thr)
c.1260-5181C>A (n.1260-5181C>A)
c.1327C>A (p.Pro443Thr)
c.1219C>A (p.Pro407Thr)
c.1147C>A (p.Pro383Thr)
c.1303C>A (p.Pro435Thr)
c.988C>A (p.Pro330Thr)
6g.73600396A>CCA364720014SLC17A5c.1305T>G (p.Ile435Met)
c.1254T>G (p.Ile418Met)
c.1107T>G (p.Ile369Met)
c.1157T>G (p.Phe386Cys)
c.1074T>G (p.Ile358Met)
c.1260-5182T>G (n.1260-5182T>G)
c.1326T>G (p.Ile442Met)
c.1218T>G (p.Ile406Met)
c.1146T>G (p.Ile382Met)
c.1302T>G (p.Ile434Met)
c.987T>G (p.Ile329Met)
6g.73600396A>GCA450912636SLC17A5c.1305T>C (p.Ile435=)
c.1254T>C (p.Ile418=)
c.1107T>C (p.Ile369=)
c.1157T>C (p.Phe386Ser)
c.1074T>C (p.Ile358=)
c.1260-5182T>C (n.1260-5182T>C)
c.1326T>C (p.Ile442=)
c.1218T>C (p.Ile406=)
c.1146T>C (p.Ile382=)
c.1302T>C (p.Ile434=)
c.987T>C (p.Ile329=)
6g.73600396A>TCA450912637SLC17A5c.1305T>A (p.Ile435=)
c.1254T>A (p.Ile418=)
c.1107T>A (p.Ile369=)
c.1157T>A (p.Phe386Tyr)
c.1074T>A (p.Ile358=)
c.1260-5182T>A (n.1260-5182T>A)
c.1326T>A (p.Ile442=)
c.1218T>A (p.Ile406=)
c.1146T>A (p.Ile382=)
c.1302T>A (p.Ile434=)
c.987T>A (p.Ile329=)
 dbSNP
6g.73600397A>CCA364720016SLC17A5c.1304T>G (p.Ile435Ser)
c.1253T>G (p.Ile418Ser)
c.1106T>G (p.Ile369Ser)
c.1156T>G (p.Phe386Val)
c.1073T>G (p.Ile358Ser)
c.1260-5183T>G (n.1260-5183T>G)
c.1325T>G (p.Ile442Ser)
c.1217T>G (p.Ile406Ser)
c.1145T>G (p.Ile382Ser)
c.1301T>G (p.Ile434Ser)
c.986T>G (p.Ile329Ser)
6g.73600397A>GCA364720017SLC17A5c.1304T>C (p.Ile435Thr)
c.1253T>C (p.Ile418Thr)
c.1106T>C (p.Ile369Thr)
c.1156T>C (p.Phe386Leu)
c.1073T>C (p.Ile358Thr)
c.1260-5183T>C (n.1260-5183T>C)
c.1325T>C (p.Ile442Thr)
c.1217T>C (p.Ile406Thr)
c.1145T>C (p.Ile382Thr)
c.1301T>C (p.Ile434Thr)
c.986T>C (p.Ile329Thr)
6g.73600397A>TCA364720015SLC17A5c.1304T>A (p.Ile435Asn)
c.1253T>A (p.Ile418Asn)
c.1106T>A (p.Ile369Asn)
c.1156T>A (p.Phe386Ile)
c.1073T>A (p.Ile358Asn)
c.1260-5183T>A (n.1260-5183T>A)
c.1325T>A (p.Ile442Asn)
c.1217T>A (p.Ile406Asn)
c.1145T>A (p.Ile382Asn)
c.1301T>A (p.Ile434Asn)
c.986T>A (p.Ile329Asn)
6g.73600398T>ACA364720018SLC17A5c.1303A>T (p.Ile435Phe)
c.1252A>T (p.Ile418Phe)
c.1105A>T (p.Ile369Phe)
c.1155A>T (p.Leu385=)
c.1072A>T (p.Ile358Phe)
c.1260-5184A>T (n.1260-5184A>T)
c.1324A>T (p.Ile442Phe)
c.1216A>T (p.Ile406Phe)
c.1144A>T (p.Ile382Phe)
c.1300A>T (p.Ile434Phe)
c.985A>T (p.Ile329Phe)
6g.73600398T>CCA364720019SLC17A5c.1303A>G (p.Ile435Val)
c.1252A>G (p.Ile418Val)
c.1105A>G (p.Ile369Val)
c.1155A>G (p.Leu385=)
c.1072A>G (p.Ile358Val)
c.1260-5184A>G (n.1260-5184A>G)
c.1324A>G (p.Ile442Val)
c.1216A>G (p.Ile406Val)
c.1144A>G (p.Ile382Val)
c.1300A>G (p.Ile434Val)
c.985A>G (p.Ile329Val)
6g.73600398T>GCA364720020SLC17A5c.1303A>C (p.Ile435Leu)
c.1252A>C (p.Ile418Leu)
c.1105A>C (p.Ile369Leu)
c.1155A>C (p.Leu385=)
c.1072A>C (p.Ile358Leu)
c.1260-5184A>C (n.1260-5184A>C)
c.1324A>C (p.Ile442Leu)
c.1216A>C (p.Ile406Leu)
c.1144A>C (p.Ile382Leu)
c.1300A>C (p.Ile434Leu)
c.985A>C (p.Ile329Leu)
6g.73600399A>CCA450912645SLC17A5c.1302T>G (p.Thr434=)
c.1251T>G (p.Thr417=)
c.1104T>G (p.Thr368=)
c.1154T>G (p.Leu385Arg)
c.1071T>G (p.Thr357=)
c.1260-5185T>G (n.1260-5185T>G)
c.1323T>G (p.Thr441=)
c.1215T>G (p.Thr405=)
c.1143T>G (p.Thr381=)
c.1299T>G (p.Thr433=)
c.984T>G (p.Thr328=)
 ClinVar
6g.73600399A>GCA450912646SLC17A5c.1302T>C (p.Thr434=)
c.1251T>C (p.Thr417=)
c.1104T>C (p.Thr368=)
c.1154T>C (p.Leu385Pro)
c.1071T>C (p.Thr357=)
c.1260-5185T>C (n.1260-5185T>C)
c.1323T>C (p.Thr441=)
c.1215T>C (p.Thr405=)
c.1143T>C (p.Thr381=)
c.1299T>C (p.Thr433=)
c.984T>C (p.Thr328=)
6g.73600399A>TCA450912648SLC17A5c.1302T>A (p.Thr434=)
c.1251T>A (p.Thr417=)
c.1104T>A (p.Thr368=)
c.1154T>A (p.Leu385Gln)
c.1071T>A (p.Thr357=)
c.1260-5185T>A (n.1260-5185T>A)
c.1323T>A (p.Thr441=)
c.1215T>A (p.Thr405=)
c.1143T>A (p.Thr381=)
c.1299T>A (p.Thr433=)
c.984T>A (p.Thr328=)
6g.73600400G>ACA364720021SLC17A5c.1301C>T (p.Thr434Ile)
c.1250C>T (p.Thr417Ile)
c.1103C>T (p.Thr368Ile)
c.1153C>T (p.Leu385=)
c.1070C>T (p.Thr357Ile)
c.1260-5186C>T (n.1260-5186C>T)
c.1322C>T (p.Thr441Ile)
c.1214C>T (p.Thr405Ile)
c.1142C>T (p.Thr381Ile)
c.1298C>T (p.Thr433Ile)
c.983C>T (p.Thr328Ile)
6g.73600400G>CCA364720022SLC17A5c.1301C>G (p.Thr434Ser)
c.1250C>G (p.Thr417Ser)
c.1103C>G (p.Thr368Ser)
c.1153C>G (p.Leu385Val)
c.1070C>G (p.Thr357Ser)
c.1260-5186C>G (n.1260-5186C>G)
c.1322C>G (p.Thr441Ser)
c.1214C>G (p.Thr405Ser)
c.1142C>G (p.Thr381Ser)
c.1298C>G (p.Thr433Ser)
c.983C>G (p.Thr328Ser)
6g.73600400G>TCA364720023SLC17A5c.1301C>A (p.Thr434Asn)
c.1250C>A (p.Thr417Asn)
c.1103C>A (p.Thr368Asn)
c.1153C>A (p.Leu385Ile)
c.1070C>A (p.Thr357Asn)
c.1260-5186C>A (n.1260-5186C>A)
c.1322C>A (p.Thr441Asn)
c.1214C>A (p.Thr405Asn)
c.1142C>A (p.Thr381Asn)
c.1298C>A (p.Thr433Asn)
c.983C>A (p.Thr328Asn)
6g.73600401T>ACA3890295SLC17A5c.1300A>T (p.Thr434Ser)
c.1249A>T (p.Thr417Ser)
c.1102A>T (p.Thr368Ser)
c.1152A>T (p.Pro384=)
c.1069A>T (p.Thr357Ser)
c.1260-5187A>T (n.1260-5187A>T)
c.1321A>T (p.Thr441Ser)
c.1213A>T (p.Thr405Ser)
c.1141A>T (p.Thr381Ser)
c.1297A>T (p.Thr433Ser)
c.982A>T (p.Thr328Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600401T>CCA364720024SLC17A5c.1300A>G (p.Thr434Ala)
c.1249A>G (p.Thr417Ala)
c.1102A>G (p.Thr368Ala)
c.1152A>G (p.Pro384=)
c.1069A>G (p.Thr357Ala)
c.1260-5187A>G (n.1260-5187A>G)
c.1321A>G (p.Thr441Ala)
c.1213A>G (p.Thr405Ala)
c.1141A>G (p.Thr381Ala)
c.1297A>G (p.Thr433Ala)
c.982A>G (p.Thr328Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.73600401T>GCA364720025SLC17A5c.1300A>C (p.Thr434Pro)
c.1249A>C (p.Thr417Pro)
c.1102A>C (p.Thr368Pro)
c.1152A>C (p.Pro384=)
c.1069A>C (p.Thr357Pro)
c.1260-5187A>C (n.1260-5187A>C)
c.1321A>C (p.Thr441Pro)
c.1213A>C (p.Thr405Pro)
c.1141A>C (p.Thr381Pro)
c.1297A>C (p.Thr433Pro)
c.982A>C (p.Thr328Pro)
6g.73600401T=CA1638223888SLC17A5c.1300A= (p.Thr434=)
c.1249A= (p.Thr417=)
c.1102A= (p.Thr368=)
c.1152A= (p.Pro384=)
c.1069A= (p.Thr357=)
c.1260-5187A= (n.1260-5187A=)
c.1321A= (p.Thr441=)
c.1213A= (p.Thr405=)
c.1141A= (p.Thr381=)
c.1297A= (p.Thr433=)
c.982A= (p.Thr328=)
6g.73600402G>ACA450912655SLC17A5c.1299C>T (p.Ala433=)
c.1248C>T (p.Ala416=)
c.1101C>T (p.Ala367=)
c.1151C>T (p.Pro384Leu)
c.1068C>T (p.Ala356=)
c.1260-5188C>T (n.1260-5188C>T)
c.1320C>T (p.Ala440=)
c.1212C>T (p.Ala404=)
c.1140C>T (p.Ala380=)
c.1296C>T (p.Ala432=)
c.981C>T (p.Ala327=)
6g.73600402G>CCA450912657SLC17A5c.1299C>G (p.Ala433=)
c.1248C>G (p.Ala416=)
c.1101C>G (p.Ala367=)
c.1151C>G (p.Pro384Arg)
c.1068C>G (p.Ala356=)
c.1260-5188C>G (n.1260-5188C>G)
c.1320C>G (p.Ala440=)
c.1212C>G (p.Ala404=)
c.1140C>G (p.Ala380=)
c.1296C>G (p.Ala432=)
c.981C>G (p.Ala327=)
6g.73600402G>TCA450912658SLC17A5c.1299C>A (p.Ala433=)
c.1248C>A (p.Ala416=)
c.1101C>A (p.Ala367=)
c.1151C>A (p.Pro384Gln)
c.1068C>A (p.Ala356=)
c.1260-5188C>A (n.1260-5188C>A)
c.1320C>A (p.Ala440=)
c.1212C>A (p.Ala404=)
c.1140C>A (p.Ala380=)
c.1296C>A (p.Ala432=)
c.981C>A (p.Ala327=)
 dbSNP
6g.73600403G>ACA364720026SLC17A5c.1298C>T (p.Ala433Val)
c.1247C>T (p.Ala416Val)
c.1100C>T (p.Ala367Val)
c.1150C>T (p.Pro384Ser)
c.1067C>T (p.Ala356Val)
c.1260-5189C>T (n.1260-5189C>T)
c.1319C>T (p.Ala440Val)
c.1211C>T (p.Ala404Val)
c.1139C>T (p.Ala380Val)
c.1295C>T (p.Ala432Val)
c.980C>T (p.Ala327Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73600403G>CCA364720027SLC17A5c.1298C>G (p.Ala433Gly)
c.1247C>G (p.Ala416Gly)
c.1100C>G (p.Ala367Gly)
c.1150C>G (p.Pro384Ala)
c.1067C>G (p.Ala356Gly)
c.1260-5189C>G (n.1260-5189C>G)
c.1319C>G (p.Ala440Gly)
c.1211C>G (p.Ala404Gly)
c.1139C>G (p.Ala380Gly)
c.1295C>G (p.Ala432Gly)
c.980C>G (p.Ala327Gly)
6g.73600403G=CA1638223893SLC17A5c.1298C= (p.Ala433=)
c.1247C= (p.Ala416=)
c.1100C= (p.Ala367=)
c.1150C= (p.Pro384=)
c.1067C= (p.Ala356=)
c.1260-5189C= (n.1260-5189C=)
c.1319C= (p.Ala440=)
c.1211C= (p.Ala404=)
c.1139C= (p.Ala380=)
c.1295C= (p.Ala432=)
c.980C= (p.Ala327=)
6g.73600403G>TCA364720028SLC17A5c.1298C>A (p.Ala433Asp)
c.1247C>A (p.Ala416Asp)
c.1100C>A (p.Ala367Asp)
c.1150C>A (p.Pro384Thr)
c.1067C>A (p.Ala356Asp)
c.1260-5189C>A (n.1260-5189C>A)
c.1319C>A (p.Ala440Asp)
c.1211C>A (p.Ala404Asp)
c.1139C>A (p.Ala380Asp)
c.1295C>A (p.Ala432Asp)
c.980C>A (p.Ala327Asp)
6g.73600404C>ACA364720029SLC17A5c.1297G>T (p.Ala433Ser)
c.1246G>T (p.Ala416Ser)
c.1099G>T (p.Ala367Ser)
c.1149G>T (p.Leu383Phe)
c.1066G>T (p.Ala356Ser)
c.1260-5190G>T (n.1260-5190G>T)
c.1318G>T (p.Ala440Ser)
c.1210G>T (p.Ala404Ser)
c.1138G>T (p.Ala380Ser)
c.1294G>T (p.Ala432Ser)
c.979G>T (p.Ala327Ser)
6g.73600404C>GCA364720030SLC17A5c.1297G>C (p.Ala433Pro)
c.1246G>C (p.Ala416Pro)
c.1099G>C (p.Ala367Pro)
c.1149G>C (p.Leu383Phe)
c.1066G>C (p.Ala356Pro)
c.1260-5190G>C (n.1260-5190G>C)
c.1318G>C (p.Ala440Pro)
c.1210G>C (p.Ala404Pro)
c.1138G>C (p.Ala380Pro)
c.1294G>C (p.Ala432Pro)
c.979G>C (p.Ala327Pro)
6g.73600404C>TCA364720031SLC17A5c.1297G>A (p.Ala433Thr)
c.1246G>A (p.Ala416Thr)
c.1099G>A (p.Ala367Thr)
c.1149G>A (p.Leu383=)
c.1066G>A (p.Ala356Thr)
c.1260-5190G>A (n.1260-5190G>A)
c.1318G>A (p.Ala440Thr)
c.1210G>A (p.Ala404Thr)
c.1138G>A (p.Ala380Thr)
c.1294G>A (p.Ala432Thr)
c.979G>A (p.Ala327Thr)
6g.73600405A>CCA364720033SLC17A5c.1296T>G (p.Phe432Leu)
c.1245T>G (p.Phe415Leu)
c.1098T>G (p.Phe366Leu)
c.1148T>G (p.Leu383Trp)
c.1065T>G (p.Phe355Leu)
c.1260-5191T>G (n.1260-5191T>G)
c.1317T>G (p.Phe439Leu)
c.1209T>G (p.Phe403Leu)
c.1137T>G (p.Phe379Leu)
c.1293T>G (p.Phe431Leu)
c.978T>G (p.Phe326Leu)
6g.73600405A>GCA450912664SLC17A5c.1296T>C (p.Phe432=)
c.1245T>C (p.Phe415=)
c.1098T>C (p.Phe366=)
c.1148T>C (p.Leu383Ser)
c.1065T>C (p.Phe355=)
c.1260-5191T>C (n.1260-5191T>C)
c.1317T>C (p.Phe439=)
c.1209T>C (p.Phe403=)
c.1137T>C (p.Phe379=)
c.1293T>C (p.Phe431=)
c.978T>C (p.Phe326=)
6g.73600405A>TCA364720032SLC17A5c.1296T>A (p.Phe432Leu)
c.1245T>A (p.Phe415Leu)
c.1098T>A (p.Phe366Leu)
c.1148T>A (p.Leu383Ter)
c.1065T>A (p.Phe355Leu)
c.1260-5191T>A (n.1260-5191T>A)
c.1317T>A (p.Phe439Leu)
c.1209T>A (p.Phe403Leu)
c.1137T>A (p.Phe379Leu)
c.1293T>A (p.Phe431Leu)
c.978T>A (p.Phe326Leu)
6g.73600407delCA2695206670SLC17A5c.1296del (p.Phe432LeufsTer16)
c.1245del (p.Phe415LeufsTer16)
c.1098del (p.Phe366LeufsTer16)
c.1148del (p.Leu383CysfsTer13)
c.1065del (p.Phe355LeufsTer16)
c.1260-5191del (n.1260-5191del)
c.1317del (p.Phe439LeufsTer16)
c.1209del (p.Phe403LeufsTer16)
c.1137del (p.Phe379LeufsTer16)
c.1293del (p.Phe431LeufsTer16)
c.978del (p.Phe326LeufsTer16)
6g.73600406A=CA1638223896SLC17A5c.1295T= (p.Phe432=)
c.1244T= (p.Phe415=)
c.1097T= (p.Phe366=)
c.1147T= (p.Leu383=)
c.1064T= (p.Phe355=)
c.1260-5192T= (n.1260-5192T=)
c.1316T= (p.Phe439=)
c.1208T= (p.Phe403=)
c.1136T= (p.Phe379=)
c.1292T= (p.Phe431=)
c.977T= (p.Phe326=)
6g.73600406A>CCA364720034SLC17A5c.1295T>G (p.Phe432Cys)
c.1244T>G (p.Phe415Cys)
c.1097T>G (p.Phe366Cys)
c.1147T>G (p.Leu383Val)
c.1064T>G (p.Phe355Cys)
c.1260-5192T>G (n.1260-5192T>G)
c.1316T>G (p.Phe439Cys)
c.1208T>G (p.Phe403Cys)
c.1136T>G (p.Phe379Cys)
c.1292T>G (p.Phe431Cys)
c.977T>G (p.Phe326Cys)
6g.73600406A>GCA3890296SLC17A5c.1295T>C (p.Phe432Ser)
c.1244T>C (p.Phe415Ser)
c.1097T>C (p.Phe366Ser)
c.1147T>C (p.Leu383=)
c.1064T>C (p.Phe355Ser)
c.1260-5192T>C (n.1260-5192T>C)
c.1316T>C (p.Phe439Ser)
c.1208T>C (p.Phe403Ser)
c.1136T>C (p.Phe379Ser)
c.1292T>C (p.Phe431Ser)
c.977T>C (p.Phe326Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73600406A>TCA364720035SLC17A5c.1295T>A (p.Phe432Tyr)
c.1244T>A (p.Phe415Tyr)
c.1097T>A (p.Phe366Tyr)
c.1147T>A (p.Leu383Met)
c.1064T>A (p.Phe355Tyr)
c.1260-5192T>A (n.1260-5192T>A)
c.1316T>A (p.Phe439Tyr)
c.1208T>A (p.Phe403Tyr)
c.1136T>A (p.Phe379Tyr)
c.1292T>A (p.Phe431Tyr)
c.977T>A (p.Phe326Tyr)
6g.73600407A>CCA364720036SLC17A5c.1294T>G (p.Phe432Val)
c.1243T>G (p.Phe415Val)
c.1096T>G (p.Phe366Val)
c.1146T>G (p.His382Gln)
c.1063T>G (p.Phe355Val)
c.1260-5193T>G (n.1260-5193T>G)
c.1315T>G (p.Phe439Val)
c.1207T>G (p.Phe403Val)
c.1135T>G (p.Phe379Val)
c.1291T>G (p.Phe431Val)
c.976T>G (p.Phe326Val)
 gnomAD v4
6g.73600407A>GCA364720037SLC17A5c.1294T>C (p.Phe432Leu)
c.1243T>C (p.Phe415Leu)
c.1096T>C (p.Phe366Leu)
c.1146T>C (p.His382=)
c.1063T>C (p.Phe355Leu)
c.1260-5193T>C (n.1260-5193T>C)
c.1315T>C (p.Phe439Leu)
c.1207T>C (p.Phe403Leu)
c.1135T>C (p.Phe379Leu)
c.1291T>C (p.Phe431Leu)
c.976T>C (p.Phe326Leu)
6g.73600407A>TCA364720038SLC17A5c.1294T>A (p.Phe432Ile)
c.1243T>A (p.Phe415Ile)
c.1096T>A (p.Phe366Ile)
c.1146T>A (p.His382Gln)
c.1063T>A (p.Phe355Ile)
c.1260-5193T>A (n.1260-5193T>A)
c.1315T>A (p.Phe439Ile)
c.1207T>A (p.Phe403Ile)
c.1135T>A (p.Phe379Ile)
c.1291T>A (p.Phe431Ile)
c.976T>A (p.Phe326Ile)
6g.73600408T>ACA450912671SLC17A5c.1293A>T (p.Thr431=)
c.1242A>T (p.Thr414=)
c.1095A>T (p.Thr365=)
c.1145A>T (p.His382Leu)
c.1062A>T (p.Thr354=)
c.1260-5194A>T (n.1260-5194A>T)
c.1314A>T (p.Thr438=)
c.1206A>T (p.Thr402=)
c.1134A>T (p.Thr378=)
c.1290A>T (p.Thr430=)
c.975A>T (p.Thr325=)
6g.73600408T>CCA450912673SLC17A5c.1293A>G (p.Thr431=)
c.1242A>G (p.Thr414=)
c.1095A>G (p.Thr365=)
c.1145A>G (p.His382Arg)
c.1062A>G (p.Thr354=)
c.1260-5194A>G (n.1260-5194A>G)
c.1314A>G (p.Thr438=)
c.1206A>G (p.Thr402=)
c.1134A>G (p.Thr378=)
c.1290A>G (p.Thr430=)
c.975A>G (p.Thr325=)
 ClinVar
6g.73600408T>GCA450912674SLC17A5c.1293A>C (p.Thr431=)
c.1242A>C (p.Thr414=)
c.1095A>C (p.Thr365=)
c.1145A>C (p.His382Pro)
c.1062A>C (p.Thr354=)
c.1260-5194A>C (n.1260-5194A>C)
c.1314A>C (p.Thr438=)
c.1206A>C (p.Thr402=)
c.1134A>C (p.Thr378=)
c.1290A>C (p.Thr430=)
c.975A>C (p.Thr325=)
6g.73600409G>ACA364720039SLC17A5c.1292C>T (p.Thr431Ile)
c.1241C>T (p.Thr414Ile)
c.1094C>T (p.Thr365Ile)
c.1144C>T (p.His382Tyr)
c.1061C>T (p.Thr354Ile)
c.1260-5195C>T (n.1260-5195C>T)
c.1313C>T (p.Thr438Ile)
c.1205C>T (p.Thr402Ile)
c.1133C>T (p.Thr378Ile)
c.1289C>T (p.Thr430Ile)
c.974C>T (p.Thr325Ile)
6g.73600409G>CCA364720040SLC17A5c.1292C>G (p.Thr431Arg)
c.1241C>G (p.Thr414Arg)
c.1094C>G (p.Thr365Arg)
c.1144C>G (p.His382Asp)
c.1061C>G (p.Thr354Arg)
c.1260-5195C>G (n.1260-5195C>G)
c.1313C>G (p.Thr438Arg)
c.1205C>G (p.Thr402Arg)
c.1133C>G (p.Thr378Arg)
c.1289C>G (p.Thr430Arg)
c.974C>G (p.Thr325Arg)
6g.73600409G>TCA364720041SLC17A5c.1292C>A (p.Thr431Lys)
c.1241C>A (p.Thr414Lys)
c.1094C>A (p.Thr365Lys)
c.1144C>A (p.His382Asn)
c.1061C>A (p.Thr354Lys)
c.1260-5195C>A (n.1260-5195C>A)
c.1313C>A (p.Thr438Lys)
c.1205C>A (p.Thr402Lys)
c.1133C>A (p.Thr378Lys)
c.1289C>A (p.Thr430Lys)
c.974C>A (p.Thr325Lys)
6g.73600410T>ACA364720044SLC17A5c.1291A>T (p.Thr431Ser)
c.1240A>T (p.Thr414Ser)
c.1093A>T (p.Thr365Ser)
c.1143A>T (p.Ile381=)
c.1060A>T (p.Thr354Ser)
c.1260-5196A>T (n.1260-5196A>T)
c.1312A>T (p.Thr438Ser)
c.1204A>T (p.Thr402Ser)
c.1132A>T (p.Thr378Ser)
c.1288A>T (p.Thr430Ser)
c.973A>T (p.Thr325Ser)
6g.73600410T>CCA364720042SLC17A5c.1291A>G (p.Thr431Ala)
c.1240A>G (p.Thr414Ala)
c.1093A>G (p.Thr365Ala)
c.1143A>G (p.Ile381Met)
c.1060A>G (p.Thr354Ala)
c.1260-5196A>G (n.1260-5196A>G)
c.1312A>G (p.Thr438Ala)
c.1204A>G (p.Thr402Ala)
c.1132A>G (p.Thr378Ala)
c.1288A>G (p.Thr430Ala)
c.973A>G (p.Thr325Ala)
 dbSNP gnomAD v4
6g.73600410T>GCA364720043SLC17A5c.1291A>C (p.Thr431Pro)
c.1240A>C (p.Thr414Pro)
c.1093A>C (p.Thr365Pro)
c.1143A>C (p.Ile381=)
c.1060A>C (p.Thr354Pro)
c.1260-5196A>C (n.1260-5196A>C)
c.1312A>C (p.Thr438Pro)
c.1204A>C (p.Thr402Pro)
c.1132A>C (p.Thr378Pro)
c.1288A>C (p.Thr430Pro)
c.973A>C (p.Thr325Pro)
6g.73600410T=CA1638223902SLC17A5c.1291A= (p.Thr431=)
c.1240A= (p.Thr414=)
c.1093A= (p.Thr365=)
c.1143A= (p.Ile381=)
c.1060A= (p.Thr354=)
c.1260-5196A= (n.1260-5196A=)
c.1312A= (p.Thr438=)
c.1204A= (p.Thr402=)
c.1132A= (p.Thr378=)
c.1288A= (p.Thr430=)
c.973A= (p.Thr325=)
6g.73600411A>CCA364720045SLC17A5c.1290T>G (p.Asn430Lys)
c.1239T>G (p.Asn413Lys)
c.1092T>G (p.Asn364Lys)
c.1142T>G (p.Ile381Arg)
c.1059T>G (p.Asn353Lys)
c.1260-5197T>G (n.1260-5197T>G)
c.1311T>G (p.Asn437Lys)
c.1203T>G (p.Asn401Lys)
c.1131T>G (p.Asn377Lys)
c.1287T>G (p.Asn429Lys)
c.972T>G (p.Asn324Lys)
6g.73600411A>GCA450912681SLC17A5c.1290T>C (p.Asn430=)
c.1239T>C (p.Asn413=)
c.1092T>C (p.Asn364=)
c.1142T>C (p.Ile381Thr)
c.1059T>C (p.Asn353=)
c.1260-5197T>C (n.1260-5197T>C)
c.1311T>C (p.Asn437=)
c.1203T>C (p.Asn401=)
c.1131T>C (p.Asn377=)
c.1287T>C (p.Asn429=)
c.972T>C (p.Asn324=)
6g.73600411A>TCA364720046SLC17A5c.1290T>A (p.Asn430Lys)
c.1239T>A (p.Asn413Lys)
c.1092T>A (p.Asn364Lys)
c.1142T>A (p.Ile381Lys)
c.1059T>A (p.Asn353Lys)
c.1260-5197T>A (n.1260-5197T>A)
c.1311T>A (p.Asn437Lys)
c.1203T>A (p.Asn401Lys)
c.1131T>A (p.Asn377Lys)
c.1287T>A (p.Asn429Lys)
c.972T>A (p.Asn324Lys)
6g.73600412T>ACA364720047SLC17A5c.1289A>T (p.Asn430Ile)
c.1238A>T (p.Asn413Ile)
c.1091A>T (p.Asn364Ile)
c.1141A>T (p.Ile381Leu)
c.1058A>T (p.Asn353Ile)
c.1260-5198A>T (n.1260-5198A>T)
c.1310A>T (p.Asn437Ile)
c.1202A>T (p.Asn401Ile)
c.1130A>T (p.Asn377Ile)
c.1286A>T (p.Asn429Ile)
c.971A>T (p.Asn324Ile)
6g.73600412T>CCA364720048SLC17A5c.1289A>G (p.Asn430Ser)
c.1238A>G (p.Asn413Ser)
c.1091A>G (p.Asn364Ser)
c.1141A>G (p.Ile381Val)
c.1058A>G (p.Asn353Ser)
c.1260-5198A>G (n.1260-5198A>G)
c.1310A>G (p.Asn437Ser)
c.1202A>G (p.Asn401Ser)
c.1130A>G (p.Asn377Ser)
c.1286A>G (p.Asn429Ser)
c.971A>G (p.Asn324Ser)
6g.73600412T>GCA364720049SLC17A5c.1289A>C (p.Asn430Thr)
c.1238A>C (p.Asn413Thr)
c.1091A>C (p.Asn364Thr)
c.1141A>C (p.Ile381Leu)
c.1058A>C (p.Asn353Thr)
c.1260-5198A>C (n.1260-5198A>C)
c.1310A>C (p.Asn437Thr)
c.1202A>C (p.Asn401Thr)
c.1130A>C (p.Asn377Thr)
c.1286A>C (p.Asn429Thr)
c.971A>C (p.Asn324Thr)
6g.73600413T>ACA364720052SLC17A5c.1288A>T (p.Asn430Tyr)
c.1237A>T (p.Asn413Tyr)
c.1090A>T (p.Asn364Tyr)
c.1140A>T (p.Gln380His)
c.1057A>T (p.Asn353Tyr)
c.1260-5199A>T (n.1260-5199A>T)
c.1309A>T (p.Asn437Tyr)
c.1201A>T (p.Asn401Tyr)
c.1129A>T (p.Asn377Tyr)
c.1285A>T (p.Asn429Tyr)
c.970A>T (p.Asn324Tyr)
6g.73600413T>CCA364720050SLC17A5c.1288A>G (p.Asn430Asp)
c.1237A>G (p.Asn413Asp)
c.1090A>G (p.Asn364Asp)
c.1140A>G (p.Gln380=)
c.1057A>G (p.Asn353Asp)
c.1260-5199A>G (n.1260-5199A>G)
c.1309A>G (p.Asn437Asp)
c.1201A>G (p.Asn401Asp)
c.1129A>G (p.Asn377Asp)
c.1285A>G (p.Asn429Asp)
c.970A>G (p.Asn324Asp)
 gnomAD v4
6g.73600413T>GCA364720051SLC17A5c.1288A>C (p.Asn430His)
c.1237A>C (p.Asn413His)
c.1090A>C (p.Asn364His)
c.1140A>C (p.Gln380His)
c.1057A>C (p.Asn353His)
c.1260-5199A>C (n.1260-5199A>C)
c.1309A>C (p.Asn437His)
c.1201A>C (p.Asn401His)
c.1129A>C (p.Asn377His)
c.1285A>C (p.Asn429His)
c.970A>C (p.Asn324His)
 dbSNP gnomAD v2
6g.73600413T=CA1638223908SLC17A5c.1288A= (p.Asn430=)
c.1237A= (p.Asn413=)
c.1090A= (p.Asn364=)
c.1140A= (p.Gln380=)
c.1057A= (p.Asn353=)
c.1260-5199A= (n.1260-5199A=)
c.1309A= (p.Asn437=)
c.1201A= (p.Asn401=)
c.1129A= (p.Asn377=)
c.1285A= (p.Asn429=)
c.970A= (p.Asn324=)
6g.73600414T>ACA450912688SLC17A5c.1287A>T (p.Thr429=)
c.1236A>T (p.Thr412=)
c.1089A>T (p.Thr363=)
c.1139A>T (p.Gln380Leu)
c.1056A>T (p.Thr352=)
c.1260-5200A>T (n.1260-5200A>T)
c.1308A>T (p.Thr436=)
c.1200A>T (p.Thr400=)
c.1128A>T (p.Thr376=)
c.1284A>T (p.Thr428=)
c.969A>T (p.Thr323=)
6g.73600414T>CCA450912690SLC17A5c.1287A>G (p.Thr429=)
c.1236A>G (p.Thr412=)
c.1089A>G (p.Thr363=)
c.1139A>G (p.Gln380Arg)
c.1056A>G (p.Thr352=)
c.1260-5200A>G (n.1260-5200A>G)
c.1308A>G (p.Thr436=)
c.1200A>G (p.Thr400=)
c.1128A>G (p.Thr376=)
c.1284A>G (p.Thr428=)
c.969A>G (p.Thr323=)
 ClinVar gnomAD v4
6g.73600414T>GCA450912691SLC17A5c.1287A>C (p.Thr429=)
c.1236A>C (p.Thr412=)
c.1089A>C (p.Thr363=)
c.1139A>C (p.Gln380Pro)
c.1056A>C (p.Thr352=)
c.1260-5200A>C (n.1260-5200A>C)
c.1308A>C (p.Thr436=)
c.1200A>C (p.Thr400=)
c.1128A>C (p.Thr376=)
c.1284A>C (p.Thr428=)
c.969A>C (p.Thr323=)
6g.73600415G>ACA364720053SLC17A5c.1286C>T (p.Thr429Ile)
c.1235C>T (p.Thr412Ile)
c.1088C>T (p.Thr363Ile)
c.1138C>T (p.Gln380Ter)
c.1055C>T (p.Thr352Ile)
c.1260-5201C>T (n.1260-5201C>T)
c.1307C>T (p.Thr436Ile)
c.1199C>T (p.Thr400Ile)
c.1127C>T (p.Thr376Ile)
c.1283C>T (p.Thr428Ile)
c.968C>T (p.Thr323Ile)
 dbSNP
6g.73600415G>CCA364720054SLC17A5c.1286C>G (p.Thr429Arg)
c.1235C>G (p.Thr412Arg)
c.1088C>G (p.Thr363Arg)
c.1138C>G (p.Gln380Glu)
c.1055C>G (p.Thr352Arg)
c.1260-5201C>G (n.1260-5201C>G)
c.1307C>G (p.Thr436Arg)
c.1199C>G (p.Thr400Arg)
c.1127C>G (p.Thr376Arg)
c.1283C>G (p.Thr428Arg)
c.968C>G (p.Thr323Arg)
6g.73600415G=CA1638223911SLC17A5c.1286C= (p.Thr429=)
c.1235C= (p.Thr412=)
c.1088C= (p.Thr363=)
c.1138C= (p.Gln380=)
c.1055C= (p.Thr352=)
c.1260-5201C= (n.1260-5201C=)
c.1307C= (p.Thr436=)
c.1199C= (p.Thr400=)
c.1127C= (p.Thr376=)
c.1283C= (p.Thr428=)
c.968C= (p.Thr323=)
6g.73600415G>TCA364720055SLC17A5c.1286C>A (p.Thr429Lys)
c.1235C>A (p.Thr412Lys)
c.1088C>A (p.Thr363Lys)
c.1138C>A (p.Gln380Lys)
c.1055C>A (p.Thr352Lys)
c.1260-5201C>A (n.1260-5201C>A)
c.1307C>A (p.Thr436Lys)
c.1199C>A (p.Thr400Lys)
c.1127C>A (p.Thr376Lys)
c.1283C>A (p.Thr428Lys)
c.968C>A (p.Thr323Lys)
6g.73600416T>ACA364720056SLC17A5c.1285A>T (p.Thr429Ser)
c.1234A>T (p.Thr412Ser)
c.1087A>T (p.Thr363Ser)
c.1137A>T (p.Ser379=)
c.1054A>T (p.Thr352Ser)
c.1260-5202A>T (n.1260-5202A>T)
c.1306A>T (p.Thr436Ser)
c.1198A>T (p.Thr400Ser)
c.1126A>T (p.Thr376Ser)
c.1282A>T (p.Thr428Ser)
c.967A>T (p.Thr323Ser)
6g.73600416T>CCA364720057SLC17A5c.1285A>G (p.Thr429Ala)
c.1234A>G (p.Thr412Ala)
c.1087A>G (p.Thr363Ala)
c.1137A>G (p.Ser379=)
c.1054A>G (p.Thr352Ala)
c.1260-5202A>G (n.1260-5202A>G)
c.1306A>G (p.Thr436Ala)
c.1198A>G (p.Thr400Ala)
c.1126A>G (p.Thr376Ala)
c.1282A>G (p.Thr428Ala)
c.967A>G (p.Thr323Ala)
6g.73600416T>GCA364720058SLC17A5c.1285A>C (p.Thr429Pro)
c.1234A>C (p.Thr412Pro)
c.1087A>C (p.Thr363Pro)
c.1137A>C (p.Ser379=)
c.1054A>C (p.Thr352Pro)
c.1260-5202A>C (n.1260-5202A>C)
c.1306A>C (p.Thr436Pro)
c.1198A>C (p.Thr400Pro)
c.1126A>C (p.Thr376Pro)
c.1282A>C (p.Thr428Pro)
c.967A>C (p.Thr323Pro)
6g.73600417G>ACA450912697SLC17A5c.1284C>T (p.Ile428=)
c.1233C>T (p.Ile411=)
c.1086C>T (p.Ile362=)
c.1136C>T (p.Ser379Leu)
c.1053C>T (p.Ile351=)
c.1260-5203C>T (n.1260-5203C>T)
c.1305C>T (p.Ile435=)
c.1197C>T (p.Ile399=)
c.1125C>T (p.Ile375=)
c.1281C>T (p.Ile427=)
c.966C>T (p.Ile322=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73600417G>CCA364720059SLC17A5c.1284C>G (p.Ile428Met)
c.1233C>G (p.Ile411Met)
c.1086C>G (p.Ile362Met)
c.1136C>G (p.Ser379Ter)
c.1053C>G (p.Ile351Met)
c.1260-5203C>G (n.1260-5203C>G)
c.1305C>G (p.Ile435Met)
c.1197C>G (p.Ile399Met)
c.1125C>G (p.Ile375Met)
c.1281C>G (p.Ile427Met)
c.966C>G (p.Ile322Met)
6g.73600417G=CA1638223913SLC17A5c.1284C= (p.Ile428=)
c.1233C= (p.Ile411=)
c.1086C= (p.Ile362=)
c.1136C= (p.Ser379=)
c.1053C= (p.Ile351=)
c.1260-5203C= (n.1260-5203C=)
c.1305C= (p.Ile435=)
c.1197C= (p.Ile399=)
c.1125C= (p.Ile375=)
c.1281C= (p.Ile427=)
c.966C= (p.Ile322=)
6g.73600417G>TCA450912698SLC17A5c.1284C>A (p.Ile428=)
c.1233C>A (p.Ile411=)
c.1086C>A (p.Ile362=)
c.1136C>A (p.Ser379Ter)
c.1053C>A (p.Ile351=)
c.1260-5203C>A (n.1260-5203C>A)
c.1305C>A (p.Ile435=)
c.1197C>A (p.Ile399=)
c.1125C>A (p.Ile375=)
c.1281C>A (p.Ile427=)
c.966C>A (p.Ile322=)
6g.73600418A>CCA364720060SLC17A5c.1283T>G (p.Ile428Ser)
c.1232T>G (p.Ile411Ser)
c.1085T>G (p.Ile362Ser)
c.1135T>G (p.Ser379Ala)
c.1052T>G (p.Ile351Ser)
c.1260-5204T>G (n.1260-5204T>G)
c.1304T>G (p.Ile435Ser)
c.1196T>G (p.Ile399Ser)
c.1124T>G (p.Ile375Ser)
c.1280T>G (p.Ile427Ser)
c.965T>G (p.Ile322Ser)
6g.73600418A>GCA364720061SLC17A5c.1283T>C (p.Ile428Thr)
c.1232T>C (p.Ile411Thr)
c.1085T>C (p.Ile362Thr)
c.1135T>C (p.Ser379Pro)
c.1052T>C (p.Ile351Thr)
c.1260-5204T>C (n.1260-5204T>C)
c.1304T>C (p.Ile435Thr)
c.1196T>C (p.Ile399Thr)
c.1124T>C (p.Ile375Thr)
c.1280T>C (p.Ile427Thr)
c.965T>C (p.Ile322Thr)
6g.73600418A>TCA364720062SLC17A5c.1283T>A (p.Ile428Asn)
c.1232T>A (p.Ile411Asn)
c.1085T>A (p.Ile362Asn)
c.1135T>A (p.Ser379Thr)
c.1052T>A (p.Ile351Asn)
c.1260-5204T>A (n.1260-5204T>A)
c.1304T>A (p.Ile435Asn)
c.1196T>A (p.Ile399Asn)
c.1124T>A (p.Ile375Asn)
c.1280T>A (p.Ile427Asn)
c.965T>A (p.Ile322Asn)
6g.73600419T>ACA364720063SLC17A5c.1282A>T (p.Ile428Phe)
c.1231A>T (p.Ile411Phe)
c.1084A>T (p.Ile362Phe)
c.1134A>T (p.Ala378=)
c.1051A>T (p.Ile351Phe)
c.1260-5205A>T (n.1260-5205A>T)
c.1303A>T (p.Ile435Phe)
c.1195A>T (p.Ile399Phe)
c.1123A>T (p.Ile375Phe)
c.1279A>T (p.Ile427Phe)
c.964A>T (p.Ile322Phe)
6g.73600419T>CCA364720064SLC17A5c.1282A>G (p.Ile428Val)
c.1231A>G (p.Ile411Val)
c.1084A>G (p.Ile362Val)
c.1134A>G (p.Ala378=)
c.1051A>G (p.Ile351Val)
c.1260-5205A>G (n.1260-5205A>G)
c.1303A>G (p.Ile435Val)
c.1195A>G (p.Ile399Val)
c.1123A>G (p.Ile375Val)
c.1279A>G (p.Ile427Val)
c.964A>G (p.Ile322Val)
6g.73600419T>GCA364720065SLC17A5c.1282A>C (p.Ile428Leu)
c.1231A>C (p.Ile411Leu)
c.1084A>C (p.Ile362Leu)
c.1134A>C (p.Ala378=)
c.1051A>C (p.Ile351Leu)
c.1260-5205A>C (n.1260-5205A>C)
c.1303A>C (p.Ile435Leu)
c.1195A>C (p.Ile399Leu)
c.1123A>C (p.Ile375Leu)
c.1279A>C (p.Ile427Leu)
c.964A>C (p.Ile322Leu)
6g.73600420G>ACA450912703SLC17A5c.1281C>T (p.Gly427=)
c.1230C>T (p.Gly410=)
c.1083C>T (p.Gly361=)
c.1133C>T (p.Ala378Val)
c.1050C>T (p.Gly350=)
c.1260-5206C>T (n.1260-5206C>T)
c.1302C>T (p.Gly434=)
c.1194C>T (p.Gly398=)
c.1122C>T (p.Gly374=)
c.1278C>T (p.Gly426=)
c.963C>T (p.Gly321=)
 gnomAD v4
6g.73600420G>CCA450912704SLC17A5c.1281C>G (p.Gly427=)
c.1230C>G (p.Gly410=)
c.1083C>G (p.Gly361=)
c.1133C>G (p.Ala378Gly)
c.1050C>G (p.Gly350=)
c.1260-5206C>G (n.1260-5206C>G)
c.1302C>G (p.Gly434=)
c.1194C>G (p.Gly398=)
c.1122C>G (p.Gly374=)
c.1278C>G (p.Gly426=)
c.963C>G (p.Gly321=)
6g.73600420G>TCA450912705SLC17A5c.1281C>A (p.Gly427=)
c.1230C>A (p.Gly410=)
c.1083C>A (p.Gly361=)
c.1133C>A (p.Ala378Glu)
c.1050C>A (p.Gly350=)
c.1260-5206C>A (n.1260-5206C>A)
c.1302C>A (p.Gly434=)
c.1194C>A (p.Gly398=)
c.1122C>A (p.Gly374=)
c.1278C>A (p.Gly426=)
c.963C>A (p.Gly321=)
6g.73600421C>ACA364720068SLC17A5c.1280G>T (p.Gly427Val)
c.1229G>T (p.Gly410Val)
c.1082G>T (p.Gly361Val)
c.1132G>T (p.Ala378Ser)
c.1049G>T (p.Gly350Val)
c.1260-5207G>T (n.1260-5207G>T)
c.1301G>T (p.Gly434Val)
c.1193G>T (p.Gly398Val)
c.1121G>T (p.Gly374Val)
c.1277G>T (p.Gly426Val)
c.962G>T (p.Gly321Val)
6g.73600421C>GCA364720066SLC17A5c.1280G>C (p.Gly427Ala)
c.1229G>C (p.Gly410Ala)
c.1082G>C (p.Gly361Ala)
c.1132G>C (p.Ala378Pro)
c.1049G>C (p.Gly350Ala)
c.1260-5207G>C (n.1260-5207G>C)
c.1301G>C (p.Gly434Ala)
c.1193G>C (p.Gly398Ala)
c.1121G>C (p.Gly374Ala)
c.1277G>C (p.Gly426Ala)
c.962G>C (p.Gly321Ala)
6g.73600421C>TCA364720067SLC17A5c.1280G>A (p.Gly427Asp)
c.1229G>A (p.Gly410Asp)
c.1082G>A (p.Gly361Asp)
c.1132G>A (p.Ala378Thr)
c.1049G>A (p.Gly350Asp)
c.1260-5207G>A (n.1260-5207G>A)
c.1301G>A (p.Gly434Asp)
c.1193G>A (p.Gly398Asp)
c.1121G>A (p.Gly374Asp)
c.1277G>A (p.Gly426Asp)
c.962G>A (p.Gly321Asp)
6g.73600422C>ACA364720069SLC17A5c.1279G>T (p.Gly427Cys)
c.1228G>T (p.Gly410Cys)
c.1081G>T (p.Gly361Cys)
c.1131G>T (p.Trp377Cys)
c.1048G>T (p.Gly350Cys)
c.1260-5208G>T (n.1260-5208G>T)
c.1300G>T (p.Gly434Cys)
c.1192G>T (p.Gly398Cys)
c.1120G>T (p.Gly374Cys)
c.1276G>T (p.Gly426Cys)
c.961G>T (p.Gly321Cys)
6g.73600422C>GCA364720070SLC17A5c.1279G>C (p.Gly427Arg)
c.1228G>C (p.Gly410Arg)
c.1081G>C (p.Gly361Arg)
c.1131G>C (p.Trp377Cys)
c.1048G>C (p.Gly350Arg)
c.1260-5208G>C (n.1260-5208G>C)
c.1300G>C (p.Gly434Arg)
c.1192G>C (p.Gly398Arg)
c.1120G>C (p.Gly374Arg)
c.1276G>C (p.Gly426Arg)
c.961G>C (p.Gly321Arg)
6g.73600422C>TCA364720071SLC17A5c.1279G>A (p.Gly427Ser)
c.1228G>A (p.Gly410Ser)
c.1081G>A (p.Gly361Ser)
c.1131G>A (p.Trp377Ter)
c.1048G>A (p.Gly350Ser)
c.1260-5208G>A (n.1260-5208G>A)
c.1300G>A (p.Gly434Ser)
c.1192G>A (p.Gly398Ser)
c.1120G>A (p.Gly374Ser)
c.1276G>A (p.Gly426Ser)
c.961G>A (p.Gly321Ser)
6g.73600423C>ACA450912707SLC17A5c.1278G>T (p.Leu426=)
c.1227G>T (p.Leu409=)
c.1080G>T (p.Leu360=)
c.1130G>T (p.Trp377Leu)
c.1047G>T (p.Leu349=)
c.1260-5209G>T (n.1260-5209G>T)
c.1299G>T (p.Leu433=)
c.1191G>T (p.Leu397=)
c.1119G>T (p.Leu373=)
c.1275G>T (p.Leu425=)
c.960G>T (p.Leu320=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73600423C=CA1638223916SLC17A5c.1278G= (p.Leu426=)
c.1227G= (p.Leu409=)
c.1080G= (p.Leu360=)
c.1130G= (p.Trp377=)
c.1047G= (p.Leu349=)
c.1260-5209G= (n.1260-5209G=)
c.1299G= (p.Leu433=)
c.1191G= (p.Leu397=)
c.1119G= (p.Leu373=)
c.1275G= (p.Leu425=)
c.960G= (p.Leu320=)
6g.73600423C>GCA450912708SLC17A5c.1278G>C (p.Leu426=)
c.1227G>C (p.Leu409=)
c.1080G>C (p.Leu360=)
c.1130G>C (p.Trp377Ser)
c.1047G>C (p.Leu349=)
c.1260-5209G>C (n.1260-5209G>C)
c.1299G>C (p.Leu433=)
c.1191G>C (p.Leu397=)
c.1119G>C (p.Leu373=)
c.1275G>C (p.Leu425=)
c.960G>C (p.Leu320=)
6g.73600423C>TCA450912709SLC17A5c.1278G>A (p.Leu426=)
c.1227G>A (p.Leu409=)
c.1080G>A (p.Leu360=)
c.1130G>A (p.Trp377Ter)
c.1047G>A (p.Leu349=)
c.1260-5209G>A (n.1260-5209G>A)
c.1299G>A (p.Leu433=)
c.1191G>A (p.Leu397=)
c.1119G>A (p.Leu373=)
c.1275G>A (p.Leu425=)
c.960G>A (p.Leu320=)
 dbSNP gnomAD v2 gnomAD v4
6g.73600424delCA2679403315SLC17A5c.1277del (p.Leu426ArgfsTer22)
c.1226del (p.Leu409ArgfsTer22)
c.1079del (p.Leu360ArgfsTer22)
c.1129del (p.Trp377GlyfsTer19)
c.1046del (p.Leu349ArgfsTer22)
c.1260-5210del (n.1260-5210del)
c.1298del (p.Leu433ArgfsTer22)
c.1190del (p.Leu397ArgfsTer22)
c.1118del (p.Leu373ArgfsTer22)
c.1274del (p.Leu425ArgfsTer22)
c.959del (p.Leu320ArgfsTer22)
 gnomAD v4
6g.73600424A>CCA364720072SLC17A5c.1277T>G (p.Leu426Arg)
c.1226T>G (p.Leu409Arg)
c.1079T>G (p.Leu360Arg)
c.1129T>G (p.Trp377Gly)
c.1046T>G (p.Leu349Arg)
c.1260-5210T>G (n.1260-5210T>G)
c.1298T>G (p.Leu433Arg)
c.1190T>G (p.Leu397Arg)
c.1118T>G (p.Leu373Arg)
c.1274T>G (p.Leu425Arg)
c.959T>G (p.Leu320Arg)
6g.73600424A>GCA364720073SLC17A5c.1277T>C (p.Leu426Pro)
c.1226T>C (p.Leu409Pro)
c.1079T>C (p.Leu360Pro)
c.1129T>C (p.Trp377Arg)
c.1046T>C (p.Leu349Pro)
c.1260-5210T>C (n.1260-5210T>C)
c.1298T>C (p.Leu433Pro)
c.1190T>C (p.Leu397Pro)
c.1118T>C (p.Leu373Pro)
c.1274T>C (p.Leu425Pro)
c.959T>C (p.Leu320Pro)
 gnomAD v4
6g.73600424A>TCA364720074SLC17A5c.1277T>A (p.Leu426Gln)
c.1226T>A (p.Leu409Gln)
c.1079T>A (p.Leu360Gln)
c.1129T>A (p.Trp377Arg)
c.1046T>A (p.Leu349Gln)
c.1260-5210T>A (n.1260-5210T>A)
c.1298T>A (p.Leu433Gln)
c.1190T>A (p.Leu397Gln)
c.1118T>A (p.Leu373Gln)
c.1274T>A (p.Leu425Gln)
c.959T>A (p.Leu320Gln)
6g.73600425G>ACA450912717SLC17A5c.1276C>T (p.Leu426=)
c.1225C>T (p.Leu409=)
c.1078C>T (p.Leu360=)
c.1128C>T (p.Ser376=)
c.1045C>T (p.Leu349=)
c.1260-5211C>T (n.1260-5211C>T)
c.1297C>T (p.Leu433=)
c.1189C>T (p.Leu397=)
c.1117C>T (p.Leu373=)
c.1273C>T (p.Leu425=)
c.958C>T (p.Leu320=)
 gnomAD v4
6g.73600425G>CCA364720075SLC17A5c.1276C>G (p.Leu426Val)
c.1225C>G (p.Leu409Val)
c.1078C>G (p.Leu360Val)
c.1128C>G (p.Ser376=)
c.1045C>G (p.Leu349Val)
c.1260-5211C>G (n.1260-5211C>G)
c.1297C>G (p.Leu433Val)
c.1189C>G (p.Leu397Val)
c.1117C>G (p.Leu373Val)
c.1273C>G (p.Leu425Val)
c.958C>G (p.Leu320Val)
6g.73600425G>TCA364720076SLC17A5c.1276C>A (p.Leu426Met)
c.1225C>A (p.Leu409Met)
c.1078C>A (p.Leu360Met)
c.1128C>A (p.Ser376=)
c.1045C>A (p.Leu349Met)
c.1260-5211C>A (n.1260-5211C>A)
c.1297C>A (p.Leu433Met)
c.1189C>A (p.Leu397Met)
c.1117C>A (p.Leu373Met)
c.1273C>A (p.Leu425Met)
c.958C>A (p.Leu320Met)
6g.73600426G>ACA450912718SLC17A5c.1275C>T (p.Leu425=)
c.1224C>T (p.Leu408=)
c.1077C>T (p.Leu359=)
c.1127C>T (p.Ser376Phe)
c.1044C>T (p.Leu348=)
c.1260-5212C>T (n.1260-5212C>T)
c.1296C>T (p.Leu432=)
c.1188C>T (p.Leu396=)
c.1116C>T (p.Leu372=)
c.1272C>T (p.Leu424=)
c.957C>T (p.Leu319=)
 ClinVar gnomAD v4
6g.73600426G>CCA450912720SLC17A5c.1275C>G (p.Leu425=)
c.1224C>G (p.Leu408=)
c.1077C>G (p.Leu359=)
c.1127C>G (p.Ser376Cys)
c.1044C>G (p.Leu348=)
c.1260-5212C>G (n.1260-5212C>G)
c.1296C>G (p.Leu432=)
c.1188C>G (p.Leu396=)
c.1116C>G (p.Leu372=)
c.1272C>G (p.Leu424=)
c.957C>G (p.Leu319=)
6g.73600426G>TCA450912721SLC17A5c.1275C>A (p.Leu425=)
c.1224C>A (p.Leu408=)
c.1077C>A (p.Leu359=)
c.1127C>A (p.Ser376Tyr)
c.1044C>A (p.Leu348=)
c.1260-5212C>A (n.1260-5212C>A)
c.1296C>A (p.Leu432=)
c.1188C>A (p.Leu396=)
c.1116C>A (p.Leu372=)
c.1272C>A (p.Leu424=)
c.957C>A (p.Leu319=)
6g.73600427delCA2578669520SLC17A5c.1274del (p.Leu425ProfsTer23)
c.1223del (p.Leu408ProfsTer23)
c.1076del (p.Leu359ProfsTer23)
c.1126del (p.Ser376ProfsTer20)
c.1043del (p.Leu348ProfsTer23)
c.1260-5213del (n.1260-5213del)
c.1295del (p.Leu432ProfsTer23)
c.1187del (p.Leu396ProfsTer23)
c.1115del (p.Leu372ProfsTer23)
c.1271del (p.Leu424ProfsTer23)
c.956del (p.Leu319ProfsTer23)
6g.73600427A>CCA364720077SLC17A5c.1274T>G (p.Leu425Arg)
c.1223T>G (p.Leu408Arg)
c.1076T>G (p.Leu359Arg)
c.1126T>G (p.Ser376Ala)
c.1043T>G (p.Leu348Arg)
c.1260-5213T>G (n.1260-5213T>G)
c.1295T>G (p.Leu432Arg)
c.1187T>G (p.Leu396Arg)
c.1115T>G (p.Leu372Arg)
c.1271T>G (p.Leu424Arg)
c.956T>G (p.Leu319Arg)
6g.73600427A>GCA364720078SLC17A5c.1274T>C (p.Leu425Pro)
c.1223T>C (p.Leu408Pro)
c.1076T>C (p.Leu359Pro)
c.1126T>C (p.Ser376Pro)
c.1043T>C (p.Leu348Pro)
c.1260-5213T>C (n.1260-5213T>C)
c.1295T>C (p.Leu432Pro)
c.1187T>C (p.Leu396Pro)
c.1115T>C (p.Leu372Pro)
c.1271T>C (p.Leu424Pro)
c.956T>C (p.Leu319Pro)
6g.73600427A>TCA364720079SLC17A5c.1274T>A (p.Leu425His)
c.1223T>A (p.Leu408His)
c.1076T>A (p.Leu359His)
c.1126T>A (p.Ser376Thr)
c.1043T>A (p.Leu348His)
c.1260-5213T>A (n.1260-5213T>A)
c.1295T>A (p.Leu432His)
c.1187T>A (p.Leu396His)
c.1115T>A (p.Leu372His)
c.1271T>A (p.Leu424His)
c.956T>A (p.Leu319His)
6g.73600428G>ACA364720080SLC17A5c.1273C>T (p.Leu425Phe)
c.1222C>T (p.Leu408Phe)
c.1075C>T (p.Leu359Phe)
c.1125C>T (p.Ser375=)
c.1042C>T (p.Leu348Phe)
c.1260-5214C>T (n.1260-5214C>T)
c.1294C>T (p.Leu432Phe)
c.1186C>T (p.Leu396Phe)
c.1114C>T (p.Leu372Phe)
c.1270C>T (p.Leu424Phe)
c.955C>T (p.Leu319Phe)
 gnomAD v4
6g.73600428G>CCA364720081SLC17A5c.1273C>G (p.Leu425Val)
c.1222C>G (p.Leu408Val)
c.1075C>G (p.Leu359Val)
c.1125C>G (p.Ser375=)
c.1042C>G (p.Leu348Val)
c.1260-5214C>G (n.1260-5214C>G)
c.1294C>G (p.Leu432Val)
c.1186C>G (p.Leu396Val)
c.1114C>G (p.Leu372Val)
c.1270C>G (p.Leu424Val)
c.955C>G (p.Leu319Val)
6g.73600428G>TCA364720082SLC17A5c.1273C>A (p.Leu425Ile)
c.1222C>A (p.Leu408Ile)
c.1075C>A (p.Leu359Ile)
c.1125C>A (p.Ser375=)
c.1042C>A (p.Leu348Ile)
c.1260-5214C>A (n.1260-5214C>A)
c.1294C>A (p.Leu432Ile)
c.1186C>A (p.Leu396Ile)
c.1114C>A (p.Leu372Ile)
c.1270C>A (p.Leu424Ile)
c.955C>A (p.Leu319Ile)
6g.73600429G>ACA450912725SLC17A5c.1272C>T (p.Ile424=)
c.1221C>T (p.Ile407=)
c.1074C>T (p.Ile358=)
c.1124C>T (p.Ser375Phe)
c.1041C>T (p.Ile347=)
c.1260-5215C>T (n.1260-5215C>T)
c.1293C>T (p.Ile431=)
c.1185C>T (p.Ile395=)
c.1113C>T (p.Ile371=)
c.1269C>T (p.Ile423=)
c.954C>T (p.Ile318=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73600429G>CCA364720083SLC17A5c.1272C>G (p.Ile424Met)
c.1221C>G (p.Ile407Met)
c.1074C>G (p.Ile358Met)
c.1124C>G (p.Ser375Cys)
c.1041C>G (p.Ile347Met)
c.1260-5215C>G (n.1260-5215C>G)
c.1293C>G (p.Ile431Met)
c.1185C>G (p.Ile395Met)
c.1113C>G (p.Ile371Met)
c.1269C>G (p.Ile423Met)
c.954C>G (p.Ile318Met)
6g.73600429G=CA1638223924SLC17A5c.1272C= (p.Ile424=)
c.1221C= (p.Ile407=)
c.1074C= (p.Ile358=)
c.1124C= (p.Ser375=)
c.1041C= (p.Ile347=)
c.1260-5215C= (n.1260-5215C=)
c.1293C= (p.Ile431=)
c.1185C= (p.Ile395=)
c.1113C= (p.Ile371=)
c.1269C= (p.Ile423=)
c.954C= (p.Ile318=)
6g.73600429G>TCA3890297SLC17A5c.1272C>A (p.Ile424=)
c.1221C>A (p.Ile407=)
c.1074C>A (p.Ile358=)
c.1124C>A (p.Ser375Tyr)
c.1041C>A (p.Ile347=)
c.1260-5215C>A (n.1260-5215C>A)
c.1293C>A (p.Ile431=)
c.1185C>A (p.Ile395=)
c.1113C>A (p.Ile371=)
c.1269C>A (p.Ile423=)
c.954C>A (p.Ile318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73600430A>CCA364720084SLC17A5c.1271T>G (p.Ile424Ser)
c.1220T>G (p.Ile407Ser)
c.1073T>G (p.Ile358Ser)
c.1123T>G (p.Ser375Ala)
c.1040T>G (p.Ile347Ser)
c.1260-5216T>G (n.1260-5216T>G)
c.1292T>G (p.Ile431Ser)
c.1184T>G (p.Ile395Ser)
c.1112T>G (p.Ile371Ser)
c.1268T>G (p.Ile423Ser)
c.953T>G (p.Ile318Ser)
6g.73600430A>GCA364720085SLC17A5c.1271T>C (p.Ile424Thr)
c.1220T>C (p.Ile407Thr)
c.1073T>C (p.Ile358Thr)
c.1123T>C (p.Ser375Pro)
c.1040T>C (p.Ile347Thr)
c.1260-5216T>C (n.1260-5216T>C)
c.1292T>C (p.Ile431Thr)
c.1184T>C (p.Ile395Thr)
c.1112T>C (p.Ile371Thr)
c.1268T>C (p.Ile423Thr)
c.953T>C (p.Ile318Thr)
6g.73600430A>TCA364720086SLC17A5c.1271T>A (p.Ile424Asn)
c.1220T>A (p.Ile407Asn)
c.1073T>A (p.Ile358Asn)
c.1123T>A (p.Ser375Thr)
c.1040T>A (p.Ile347Asn)
c.1260-5216T>A (n.1260-5216T>A)
c.1292T>A (p.Ile431Asn)
c.1184T>A (p.Ile395Asn)
c.1112T>A (p.Ile371Asn)
c.1268T>A (p.Ile423Asn)
c.953T>A (p.Ile318Asn)
6g.73600431T>ACA364720087SLC17A5c.1270A>T (p.Ile424Phe)
c.1219A>T (p.Ile407Phe)
c.1072A>T (p.Ile358Phe)
c.1122A>T (p.Val374=)
c.1039A>T (p.Ile347Phe)
c.1260-5217A>T (n.1260-5217A>T)
c.1291A>T (p.Ile431Phe)
c.1183A>T (p.Ile395Phe)
c.1111A>T (p.Ile371Phe)
c.1267A>T (p.Ile423Phe)
c.952A>T (p.Ile318Phe)
6g.73600431T>CCA364720088SLC17A5c.1270A>G (p.Ile424Val)
c.1219A>G (p.Ile407Val)
c.1072A>G (p.Ile358Val)
c.1122A>G (p.Val374=)
c.1039A>G (p.Ile347Val)
c.1260-5217A>G (n.1260-5217A>G)
c.1291A>G (p.Ile431Val)
c.1183A>G (p.Ile395Val)
c.1111A>G (p.Ile371Val)
c.1267A>G (p.Ile423Val)
c.952A>G (p.Ile318Val)
6g.73600431T>GCA364720089SLC17A5c.1270A>C (p.Ile424Leu)
c.1219A>C (p.Ile407Leu)
c.1072A>C (p.Ile358Leu)
c.1122A>C (p.Val374=)
c.1039A>C (p.Ile347Leu)
c.1260-5217A>C (n.1260-5217A>C)
c.1291A>C (p.Ile431Leu)
c.1183A>C (p.Ile395Leu)
c.1111A>C (p.Ile371Leu)
c.1267A>C (p.Ile423Leu)
c.952A>C (p.Ile318Leu)
6g.73600432A>CCA450912730SLC17A5c.1269T>G (p.Gly423=)
c.1218T>G (p.Gly406=)
c.1071T>G (p.Gly357=)
c.1121T>G (p.Val374Gly)
c.1038T>G (p.Gly346=)
c.1260-5218T>G (n.1260-5218T>G)
c.1290T>G (p.Gly430=)
c.1182T>G (p.Gly394=)
c.1110T>G (p.Gly370=)
c.1266T>G (p.Gly422=)
c.951T>G (p.Gly317=)
6g.73600432A>GCA450912732SLC17A5c.1269T>C (p.Gly423=)
c.1218T>C (p.Gly406=)
c.1071T>C (p.Gly357=)
c.1121T>C (p.Val374Ala)
c.1038T>C (p.Gly346=)
c.1260-5218T>C (n.1260-5218T>C)
c.1290T>C (p.Gly430=)
c.1182T>C (p.Gly394=)
c.1110T>C (p.Gly370=)
c.1266T>C (p.Gly422=)
c.951T>C (p.Gly317=)
6g.73600432A>TCA450912734SLC17A5c.1269T>A (p.Gly423=)
c.1218T>A (p.Gly406=)
c.1071T>A (p.Gly357=)
c.1121T>A (p.Val374Glu)
c.1038T>A (p.Gly346=)
c.1260-5218T>A (n.1260-5218T>A)
c.1290T>A (p.Gly430=)
c.1182T>A (p.Gly394=)
c.1110T>A (p.Gly370=)
c.1266T>A (p.Gly422=)
c.951T>A (p.Gly317=)
6g.73600433C>ACA364720090SLC17A5c.1268G>T (p.Gly423Val)
c.1217G>T (p.Gly406Val)
c.1070G>T (p.Gly357Val)
c.1120G>T (p.Val374Leu)
c.1037G>T (p.Gly346Val)
c.1260-5219G>T (n.1260-5219G>T)
c.1289G>T (p.Gly430Val)
c.1181G>T (p.Gly394Val)
c.1109G>T (p.Gly370Val)
c.1265G>T (p.Gly422Val)
c.950G>T (p.Gly317Val)
 gnomAD v4
6g.73600433C=CA1638223931SLC17A5c.1268G= (p.Gly423=)
c.1217G= (p.Gly406=)
c.1070G= (p.Gly357=)
c.1120G= (p.Val374=)
c.1037G= (p.Gly346=)
c.1260-5219G= (n.1260-5219G=)
c.1289G= (p.Gly430=)
c.1181G= (p.Gly394=)
c.1109G= (p.Gly370=)
c.1265G= (p.Gly422=)
c.950G= (p.Gly317=)
6g.73600433C>GCA364720091SLC17A5c.1268G>C (p.Gly423Ala)
c.1217G>C (p.Gly406Ala)
c.1070G>C (p.Gly357Ala)
c.1120G>C (p.Val374Leu)
c.1037G>C (p.Gly346Ala)
c.1260-5219G>C (n.1260-5219G>C)
c.1289G>C (p.Gly430Ala)
c.1181G>C (p.Gly394Ala)
c.1109G>C (p.Gly370Ala)
c.1265G>C (p.Gly422Ala)
c.950G>C (p.Gly317Ala)
6g.73600433C>TCA364720092SLC17A5c.1268G>A (p.Gly423Asp)
c.1217G>A (p.Gly406Asp)
c.1070G>A (p.Gly357Asp)
c.1120G>A (p.Val374Ile)
c.1037G>A (p.Gly346Asp)
c.1260-5219G>A (n.1260-5219G>A)
c.1289G>A (p.Gly430Asp)
c.1181G>A (p.Gly394Asp)
c.1109G>A (p.Gly370Asp)
c.1265G>A (p.Gly422Asp)
c.950G>A (p.Gly317Asp)
 dbSNP COSMIC
6g.73600434C>ACA364720093SLC17A5c.1267G>T (p.Gly423Cys)
c.1216G>T (p.Gly406Cys)
c.1069G>T (p.Gly357Cys)
c.1119G>T (p.Leu373=)
c.1036G>T (p.Gly346Cys)
c.1260-5220G>T (n.1260-5220G>T)
c.1288G>T (p.Gly430Cys)
c.1180G>T (p.Gly394Cys)
c.1108G>T (p.Gly370Cys)
c.1264G>T (p.Gly422Cys)
c.949G>T (p.Gly317Cys)
6g.73600434C>GCA364720094SLC17A5c.1267G>C (p.Gly423Arg)
c.1216G>C (p.Gly406Arg)
c.1069G>C (p.Gly357Arg)
c.1119G>C (p.Leu373=)
c.1036G>C (p.Gly346Arg)
c.1260-5220G>C (n.1260-5220G>C)
c.1288G>C (p.Gly430Arg)
c.1180G>C (p.Gly394Arg)
c.1108G>C (p.Gly370Arg)
c.1264G>C (p.Gly422Arg)
c.949G>C (p.Gly317Arg)
6g.73600434C>TCA364720095SLC17A5c.1267G>A (p.Gly423Ser)
c.1216G>A (p.Gly406Ser)
c.1069G>A (p.Gly357Ser)
c.1119G>A (p.Leu373=)
c.1036G>A (p.Gly346Ser)
c.1260-5220G>A (n.1260-5220G>A)
c.1288G>A (p.Gly430Ser)
c.1180G>A (p.Gly394Ser)
c.1108G>A (p.Gly370Ser)
c.1264G>A (p.Gly422Ser)
c.949G>A (p.Gly317Ser)
 gnomAD v4
6g.73600435A>CCA450912741SLC17A5c.1266T>G (p.Ala422=)
c.1215T>G (p.Ala405=)
c.1068T>G (p.Ala356=)
c.1118T>G (p.Leu373Arg)
c.1035T>G (p.Ala345=)
c.1260-5221T>G (n.1260-5221T>G)
c.1287T>G (p.Ala429=)
c.1179T>G (p.Ala393=)
c.1107T>G (p.Ala369=)
c.1263T>G (p.Ala421=)
c.948T>G (p.Ala316=)
6g.73600435A>GCA450912742SLC17A5c.1266T>C (p.Ala422=)
c.1215T>C (p.Ala405=)
c.1068T>C (p.Ala356=)
c.1118T>C (p.Leu373Pro)
c.1035T>C (p.Ala345=)
c.1260-5221T>C (n.1260-5221T>C)
c.1287T>C (p.Ala429=)
c.1179T>C (p.Ala393=)
c.1107T>C (p.Ala369=)
c.1263T>C (p.Ala421=)
c.948T>C (p.Ala316=)
6g.73600435A>TCA450912744SLC17A5c.1266T>A (p.Ala422=)
c.1215T>A (p.Ala405=)
c.1068T>A (p.Ala356=)
c.1118T>A (p.Leu373Gln)
c.1035T>A (p.Ala345=)
c.1260-5221T>A (n.1260-5221T>A)
c.1287T>A (p.Ala429=)
c.1179T>A (p.Ala393=)
c.1107T>A (p.Ala369=)
c.1263T>A (p.Ala421=)
c.948T>A (p.Ala316=)
6g.73600436G>ACA364720096SLC17A5c.1265C>T (p.Ala422Val)
c.1214C>T (p.Ala405Val)
c.1067C>T (p.Ala356Val)
c.1117C>T (p.Leu373=)
c.1034C>T (p.Ala345Val)
c.1260-5222C>T (n.1260-5222C>T)
c.1286C>T (p.Ala429Val)
c.1178C>T (p.Ala393Val)
c.1106C>T (p.Ala369Val)
c.1262C>T (p.Ala421Val)
c.947C>T (p.Ala316Val)
6g.73600436G>CCA364720098SLC17A5c.1265C>G (p.Ala422Gly)
c.1214C>G (p.Ala405Gly)
c.1067C>G (p.Ala356Gly)
c.1117C>G (p.Leu373Val)
c.1034C>G (p.Ala345Gly)
c.1260-5222C>G (n.1260-5222C>G)
c.1286C>G (p.Ala429Gly)
c.1178C>G (p.Ala393Gly)
c.1106C>G (p.Ala369Gly)
c.1262C>G (p.Ala421Gly)
c.947C>G (p.Ala316Gly)
6g.73600436G>TCA364720097SLC17A5c.1265C>A (p.Ala422Asp)
c.1214C>A (p.Ala405Asp)
c.1067C>A (p.Ala356Asp)
c.1117C>A (p.Leu373Met)
c.1034C>A (p.Ala345Asp)
c.1260-5222C>A (n.1260-5222C>A)
c.1286C>A (p.Ala429Asp)
c.1178C>A (p.Ala393Asp)
c.1106C>A (p.Ala369Asp)
c.1262C>A (p.Ala421Asp)
c.947C>A (p.Ala316Asp)
 gnomAD v4
6g.73600437C>ACA364720099SLC17A5c.1264G>T (p.Ala422Ser)
c.1213G>T (p.Ala405Ser)
c.1066G>T (p.Ala356Ser)
c.1116G>T (p.Met372Ile)
c.1033G>T (p.Ala345Ser)
c.1260-5223G>T (n.1260-5223G>T)
c.1285G>T (p.Ala429Ser)
c.1177G>T (p.Ala393Ser)
c.1105G>T (p.Ala369Ser)
c.1261G>T (p.Ala421Ser)
c.946G>T (p.Ala316Ser)
6g.73600437C>GCA364720101SLC17A5c.1264G>C (p.Ala422Pro)
c.1213G>C (p.Ala405Pro)
c.1066G>C (p.Ala356Pro)
c.1116G>C (p.Met372Ile)
c.1033G>C (p.Ala345Pro)
c.1260-5223G>C (n.1260-5223G>C)
c.1285G>C (p.Ala429Pro)
c.1177G>C (p.Ala393Pro)
c.1105G>C (p.Ala369Pro)
c.1261G>C (p.Ala421Pro)
c.946G>C (p.Ala316Pro)
6g.73600437C>TCA364720100SLC17A5c.1264G>A (p.Ala422Thr)
c.1213G>A (p.Ala405Thr)
c.1066G>A (p.Ala356Thr)
c.1116G>A (p.Met372Ile)
c.1033G>A (p.Ala345Thr)
c.1260-5223G>A (n.1260-5223G>A)
c.1285G>A (p.Ala429Thr)
c.1177G>A (p.Ala393Thr)
c.1105G>A (p.Ala369Thr)
c.1261G>A (p.Ala421Thr)
c.946G>A (p.Ala316Thr)
 gnomAD v4
6g.73600438A=CA1638223936SLC17A5c.1263T= (p.Tyr421=)
c.1212T= (p.Tyr404=)
c.1065T= (p.Tyr355=)
c.1115T= (p.Met372=)
c.1032T= (p.Tyr344=)
c.1260-5224T= (n.1260-5224T=)
c.1284T= (p.Tyr428=)
c.1176T= (p.Tyr392=)
c.1104T= (p.Tyr368=)
c.1260T= (p.Tyr420=)
c.945T= (p.Tyr315=)
6g.73600438A>CCA364720102SLC17A5c.1263T>G (p.Tyr421Ter)
c.1212T>G (p.Tyr404Ter)
c.1065T>G (p.Tyr355Ter)
c.1115T>G (p.Met372Arg)
c.1032T>G (p.Tyr344Ter)
c.1260-5224T>G (n.1260-5224T>G)
c.1284T>G (p.Tyr428Ter)
c.1176T>G (p.Tyr392Ter)
c.1104T>G (p.Tyr368Ter)
c.1260T>G (p.Tyr420Ter)
c.945T>G (p.Tyr315Ter)
6g.73600438A>GCA3890298SLC17A5c.1263T>C (p.Tyr421=)
c.1212T>C (p.Tyr404=)
c.1065T>C (p.Tyr355=)
c.1115T>C (p.Met372Thr)
c.1032T>C (p.Tyr344=)
c.1260-5224T>C (n.1260-5224T>C)
c.1284T>C (p.Tyr428=)
c.1176T>C (p.Tyr392=)
c.1104T>C (p.Tyr368=)
c.1260T>C (p.Tyr420=)
c.945T>C (p.Tyr315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600438A>TCA364720103SLC17A5c.1263T>A (p.Tyr421Ter)
c.1212T>A (p.Tyr404Ter)
c.1065T>A (p.Tyr355Ter)
c.1115T>A (p.Met372Lys)
c.1032T>A (p.Tyr344Ter)
c.1260-5224T>A (n.1260-5224T>A)
c.1284T>A (p.Tyr428Ter)
c.1176T>A (p.Tyr392Ter)
c.1104T>A (p.Tyr368Ter)
c.1260T>A (p.Tyr420Ter)
c.945T>A (p.Tyr315Ter)
6g.73600439T>ACA364720104SLC17A5c.1262A>T (p.Tyr421Phe)
c.1211A>T (p.Tyr404Phe)
c.1064A>T (p.Tyr355Phe)
c.1114A>T (p.Met372Leu)
c.1031A>T (p.Tyr344Phe)
c.1260-5225A>T (n.1260-5225A>T)
c.1283A>T (p.Tyr428Phe)
c.1175A>T (p.Tyr392Phe)
c.1103A>T (p.Tyr368Phe)
c.1259A>T (p.Tyr420Phe)
c.944A>T (p.Tyr315Phe)
6g.73600439T>CCA364720105SLC17A5c.1262A>G (p.Tyr421Cys)
c.1211A>G (p.Tyr404Cys)
c.1064A>G (p.Tyr355Cys)
c.1114A>G (p.Met372Val)
c.1031A>G (p.Tyr344Cys)
c.1260-5225A>G (n.1260-5225A>G)
c.1283A>G (p.Tyr428Cys)
c.1175A>G (p.Tyr392Cys)
c.1103A>G (p.Tyr368Cys)
c.1259A>G (p.Tyr420Cys)
c.944A>G (p.Tyr315Cys)
6g.73600439T>GCA364720106SLC17A5c.1262A>C (p.Tyr421Ser)
c.1211A>C (p.Tyr404Ser)
c.1064A>C (p.Tyr355Ser)
c.1114A>C (p.Met372Leu)
c.1031A>C (p.Tyr344Ser)
c.1260-5225A>C (n.1260-5225A>C)
c.1283A>C (p.Tyr428Ser)
c.1175A>C (p.Tyr392Ser)
c.1103A>C (p.Tyr368Ser)
c.1259A>C (p.Tyr420Ser)
c.944A>C (p.Tyr315Ser)
6g.73600440A=CA1638223939SLC17A5c.1261T= (p.Tyr421=)
c.1210T= (p.Tyr404=)
c.1063T= (p.Tyr355=)
c.1113T= (p.Gly371=)
c.1030T= (p.Tyr344=)
c.1260-5226T= (n.1260-5226T=)
c.1282T= (p.Tyr428=)
c.1174T= (p.Tyr392=)
c.1102T= (p.Tyr368=)
c.1258T= (p.Tyr420=)
c.943T= (p.Tyr315=)
6g.73600440A>CCA364720107SLC17A5c.1261T>G (p.Tyr421Asp)
c.1210T>G (p.Tyr404Asp)
c.1063T>G (p.Tyr355Asp)
c.1113T>G (p.Gly371=)
c.1030T>G (p.Tyr344Asp)
c.1260-5226T>G (n.1260-5226T>G)
c.1282T>G (p.Tyr428Asp)
c.1174T>G (p.Tyr392Asp)
c.1102T>G (p.Tyr368Asp)
c.1258T>G (p.Tyr420Asp)
c.943T>G (p.Tyr315Asp)
6g.73600440A>GCA364720108SLC17A5c.1261T>C (p.Tyr421His)
c.1210T>C (p.Tyr404His)
c.1063T>C (p.Tyr355His)
c.1113T>C (p.Gly371=)
c.1030T>C (p.Tyr344His)
c.1260-5226T>C (n.1260-5226T>C)
c.1282T>C (p.Tyr428His)
c.1174T>C (p.Tyr392His)
c.1102T>C (p.Tyr368His)
c.1258T>C (p.Tyr420His)
c.943T>C (p.Tyr315His)
6g.73600440A>TCA3890299SLC17A5c.1261T>A (p.Tyr421Asn)
c.1210T>A (p.Tyr404Asn)
c.1063T>A (p.Tyr355Asn)
c.1113T>A (p.Gly371=)
c.1030T>A (p.Tyr344Asn)
c.1260-5226T>A (n.1260-5226T>A)
c.1282T>A (p.Tyr428Asn)
c.1174T>A (p.Tyr392Asn)
c.1102T>A (p.Tyr368Asn)
c.1258T>A (p.Tyr420Asn)
c.943T>A (p.Tyr315Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73600441C>ACA450912756SLC17A5c.1260G>T (p.Ser420=)
c.1209G>T (p.Ser403=)
c.1062G>T (p.Ser354=)
c.1112G>T (p.Gly371Val)
c.1029G>T (p.Ser343=)
c.1260-5227G>T (n.1260-5227G>T)
c.1281G>T (p.Ser427=)
c.1173G>T (p.Ser391=)
c.1101G>T (p.Ser367=)
c.1257G>T (p.Ser419=)
c.942G>T (p.Ser314=)
6g.73600441C=CA1638223945SLC17A5c.1260G= (p.Ser420=)
c.1209G= (p.Ser403=)
c.1062G= (p.Ser354=)
c.1112G= (p.Gly371=)
c.1029G= (p.Ser343=)
c.1260-5227G= (n.1260-5227G=)
c.1281G= (p.Ser427=)
c.1173G= (p.Ser391=)
c.1101G= (p.Ser367=)
c.1257G= (p.Ser419=)
c.942G= (p.Ser314=)
6g.73600441C>GCA3890300SLC17A5c.1260G>C (p.Ser420=)
c.1209G>C (p.Ser403=)
c.1062G>C (p.Ser354=)
c.1112G>C (p.Gly371Ala)
c.1029G>C (p.Ser343=)
c.1260-5227G>C (n.1260-5227G>C)
c.1281G>C (p.Ser427=)
c.1173G>C (p.Ser391=)
c.1101G>C (p.Ser367=)
c.1257G>C (p.Ser419=)
c.942G>C (p.Ser314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600441C>TCA450912758SLC17A5c.1260G>A (p.Ser420=)
c.1209G>A (p.Ser403=)
c.1062G>A (p.Ser354=)
c.1112G>A (p.Gly371Asp)
c.1029G>A (p.Ser343=)
c.1260-5227G>A (n.1260-5227G>A)
c.1281G>A (p.Ser427=)
c.1173G>A (p.Ser391=)
c.1101G>A (p.Ser367=)
c.1257G>A (p.Ser419=)
c.942G>A (p.Ser314=)
6g.73600442C>ACA364720109SLC17A5c.1260-1G>T (n.1260-1G>T)
c.1209-1G>T (n.1209-1G>T)
c.1062-1G>T (n.1062-1G>T)
c.1112-1G>T (n.1112-1G>T)
c.1029-1G>T (n.1029-1G>T)
c.1260-5228G>T (n.1260-5228G>T)
c.1281-1G>T (n.1281-1G>T)
c.1173-1G>T (n.1173-1G>T)
c.1101-1G>T (n.1101-1G>T)
c.1257-1G>T (n.1257-1G>T)
c.942-1G>T (n.942-1G>T)
6g.73600442C>GCA364720110SLC17A5c.1260-1G>C (n.1260-1G>C)
c.1209-1G>C (n.1209-1G>C)
c.1062-1G>C (n.1062-1G>C)
c.1112-1G>C (n.1112-1G>C)
c.1029-1G>C (n.1029-1G>C)
c.1260-5228G>C (n.1260-5228G>C)
c.1281-1G>C (n.1281-1G>C)
c.1173-1G>C (n.1173-1G>C)
c.1101-1G>C (n.1101-1G>C)
c.1257-1G>C (n.1257-1G>C)
c.942-1G>C (n.942-1G>C)
6g.73600442C>TCA364720111SLC17A5c.1260-1G>A (n.1260-1G>A)
c.1209-1G>A (n.1209-1G>A)
c.1062-1G>A (n.1062-1G>A)
c.1112-1G>A (n.1112-1G>A)
c.1029-1G>A (n.1029-1G>A)
c.1260-5228G>A (n.1260-5228G>A)
c.1281-1G>A (n.1281-1G>A)
c.1173-1G>A (n.1173-1G>A)
c.1101-1G>A (n.1101-1G>A)
c.1257-1G>A (n.1257-1G>A)
c.942-1G>A (n.942-1G>A)
6g.73600443T>ACA364720112SLC17A5c.1260-2A>T (n.1260-2A>T)
c.1209-2A>T (n.1209-2A>T)
c.1062-2A>T (n.1062-2A>T)
c.1112-2A>T (n.1112-2A>T)
c.1029-2A>T (n.1029-2A>T)
c.1260-5229A>T (n.1260-5229A>T)
c.1281-2A>T (n.1281-2A>T)
c.1173-2A>T (n.1173-2A>T)
c.1101-2A>T (n.1101-2A>T)
c.1257-2A>T (n.1257-2A>T)
c.942-2A>T (n.942-2A>T)
6g.73600443T>CCA364720113SLC17A5c.1260-2A>G (n.1260-2A>G)
c.1209-2A>G (n.1209-2A>G)
c.1062-2A>G (n.1062-2A>G)
c.1112-2A>G (n.1112-2A>G)
c.1029-2A>G (n.1029-2A>G)
c.1260-5229A>G (n.1260-5229A>G)
c.1281-2A>G (n.1281-2A>G)
c.1173-2A>G (n.1173-2A>G)
c.1101-2A>G (n.1101-2A>G)
c.1257-2A>G (n.1257-2A>G)
c.942-2A>G (n.942-2A>G)
6g.73600443T>GCA140972190SLC17A5c.1260-2A>C (n.1260-2A>C)
c.1209-2A>C (n.1209-2A>C)
c.1062-2A>C (n.1062-2A>C)
c.1112-2A>C (n.1112-2A>C)
c.1029-2A>C (n.1029-2A>C)
c.1260-5229A>C (n.1260-5229A>C)
c.1281-2A>C (n.1281-2A>C)
c.1173-2A>C (n.1173-2A>C)
c.1101-2A>C (n.1101-2A>C)
c.1257-2A>C (n.1257-2A>C)
c.942-2A>C (n.942-2A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73600443T=CA1638223954SLC17A5c.1260-2A= (n.1260-2A=)
c.1209-2A= (n.1209-2A=)
c.1062-2A= (n.1062-2A=)
c.1112-2A= (n.1112-2A=)
c.1029-2A= (n.1029-2A=)
c.1260-5229A= (n.1260-5229A=)
c.1281-2A= (n.1281-2A=)
c.1173-2A= (n.1173-2A=)
c.1101-2A= (n.1101-2A=)
c.1257-2A= (n.1257-2A=)
c.942-2A= (n.942-2A=)
6g.73600444G>ACA827949400SLC17A5c.1260-3C>T (n.1260-3C>T)
c.1209-3C>T (n.1209-3C>T)
c.1062-3C>T (n.1062-3C>T)
c.1112-3C>T (n.1112-3C>T)
c.1029-3C>T (n.1029-3C>T)
c.1260-5230C>T (n.1260-5230C>T)
c.1281-3C>T (n.1281-3C>T)
c.1173-3C>T (n.1173-3C>T)
c.1101-3C>T (n.1101-3C>T)
c.1257-3C>T (n.1257-3C>T)
c.942-3C>T (n.942-3C>T)
 dbSNP gnomAD v4
6g.73600444G=CA1638223957SLC17A5c.1260-3C= (n.1260-3C=)
c.1209-3C= (n.1209-3C=)
c.1062-3C= (n.1062-3C=)
c.1112-3C= (n.1112-3C=)
c.1029-3C= (n.1029-3C=)
c.1260-5230C= (n.1260-5230C=)
c.1281-3C= (n.1281-3C=)
c.1173-3C= (n.1173-3C=)
c.1101-3C= (n.1101-3C=)
c.1257-3C= (n.1257-3C=)
c.942-3C= (n.942-3C=)
6g.73600444G>TCA2679403316SLC17A5c.1260-3C>A (n.1260-3C>A)
c.1209-3C>A (n.1209-3C>A)
c.1062-3C>A (n.1062-3C>A)
c.1112-3C>A (n.1112-3C>A)
c.1029-3C>A (n.1029-3C>A)
c.1260-5230C>A (n.1260-5230C>A)
c.1281-3C>A (n.1281-3C>A)
c.1173-3C>A (n.1173-3C>A)
c.1101-3C>A (n.1101-3C>A)
c.1257-3C>A (n.1257-3C>A)
c.942-3C>A (n.942-3C>A)
 gnomAD v4
6g.73600445T>CCA3890301SLC17A5c.1260-4A>G (n.1260-4A>G)
c.1209-4A>G (n.1209-4A>G)
c.1062-4A>G (n.1062-4A>G)
c.1112-4A>G (n.1112-4A>G)
c.1029-4A>G (n.1029-4A>G)
c.1260-5231A>G (n.1260-5231A>G)
c.1281-4A>G (n.1281-4A>G)
c.1173-4A>G (n.1173-4A>G)
c.1101-4A>G (n.1101-4A>G)
c.1257-4A>G (n.1257-4A>G)
c.942-4A>G (n.942-4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600445T=CA1638223959SLC17A5c.1260-4A= (n.1260-4A=)
c.1209-4A= (n.1209-4A=)
c.1062-4A= (n.1062-4A=)
c.1112-4A= (n.1112-4A=)
c.1029-4A= (n.1029-4A=)
c.1260-5231A= (n.1260-5231A=)
c.1281-4A= (n.1281-4A=)
c.1173-4A= (n.1173-4A=)
c.1101-4A= (n.1101-4A=)
c.1257-4A= (n.1257-4A=)
c.942-4A= (n.942-4A=)
6g.73600446A=CA1638223960SLC17A5c.1260-5T= (n.1260-5T=)
c.1209-5T= (n.1209-5T=)
c.1062-5T= (n.1062-5T=)
c.1112-5T= (n.1112-5T=)
c.1029-5T= (n.1029-5T=)
c.1260-5232T= (n.1260-5232T=)
c.1281-5T= (n.1281-5T=)
c.1173-5T= (n.1173-5T=)
c.1101-5T= (n.1101-5T=)
c.1257-5T= (n.1257-5T=)
c.942-5T= (n.942-5T=)
6g.73600446A>GCA1638223962SLC17A5c.1260-5T>C (n.1260-5T>C)
c.1209-5T>C (n.1209-5T>C)
c.1062-5T>C (n.1062-5T>C)
c.1112-5T>C (n.1112-5T>C)
c.1029-5T>C (n.1029-5T>C)
c.1260-5232T>C (n.1260-5232T>C)
c.1281-5T>C (n.1281-5T>C)
c.1173-5T>C (n.1173-5T>C)
c.1101-5T>C (n.1101-5T>C)
c.1257-5T>C (n.1257-5T>C)
c.942-5T>C (n.942-5T>C)
 dbSNP gnomAD v4
6g.73600446A>TCA2697553541SLC17A5c.1260-5T>A (n.1260-5T>A)
c.1209-5T>A (n.1209-5T>A)
c.1062-5T>A (n.1062-5T>A)
c.1112-5T>A (n.1112-5T>A)
c.1029-5T>A (n.1029-5T>A)
c.1260-5232T>A (n.1260-5232T>A)
c.1281-5T>A (n.1281-5T>A)
c.1173-5T>A (n.1173-5T>A)
c.1101-5T>A (n.1101-5T>A)
c.1257-5T>A (n.1257-5T>A)
c.942-5T>A (n.942-5T>A)
 ClinVar
6g.73600447G>ACA2499218523SLC17A5c.1260-6C>T (n.1260-6C>T)
c.1209-6C>T (n.1209-6C>T)
c.1062-6C>T (n.1062-6C>T)
c.1112-6C>T (n.1112-6C>T)
c.1029-6C>T (n.1029-6C>T)
c.1260-5233C>T (n.1260-5233C>T)
c.1281-6C>T (n.1281-6C>T)
c.1173-6C>T (n.1173-6C>T)
c.1101-6C>T (n.1101-6C>T)
c.1257-6C>T (n.1257-6C>T)
c.942-6C>T (n.942-6C>T)
 ClinVar dbSNP
6g.73600447G>CCA2679403317SLC17A5c.1260-6C>G (n.1260-6C>G)
c.1209-6C>G (n.1209-6C>G)
c.1062-6C>G (n.1062-6C>G)
c.1112-6C>G (n.1112-6C>G)
c.1029-6C>G (n.1029-6C>G)
c.1260-5233C>G (n.1260-5233C>G)
c.1281-6C>G (n.1281-6C>G)
c.1173-6C>G (n.1173-6C>G)
c.1101-6C>G (n.1101-6C>G)
c.1257-6C>G (n.1257-6C>G)
c.942-6C>G (n.942-6C>G)
 gnomAD v4
6g.73600448A>GCA2679403318SLC17A5c.1260-7T>C (n.1260-7T>C)
c.1209-7T>C (n.1209-7T>C)
c.1062-7T>C (n.1062-7T>C)
c.1112-7T>C (n.1112-7T>C)
c.1029-7T>C (n.1029-7T>C)
c.1260-5234T>C (n.1260-5234T>C)
c.1281-7T>C (n.1281-7T>C)
c.1173-7T>C (n.1173-7T>C)
c.1101-7T>C (n.1101-7T>C)
c.1257-7T>C (n.1257-7T>C)
c.942-7T>C (n.942-7T>C)
 gnomAD v4
6g.73600451C>TCA2679403319SLC17A5c.1260-10G>A (n.1260-10G>A)
c.1209-10G>A (n.1209-10G>A)
c.1062-10G>A (n.1062-10G>A)
c.1112-10G>A (n.1112-10G>A)
c.1029-10G>A (n.1029-10G>A)
c.1260-5237G>A (n.1260-5237G>A)
c.1281-10G>A (n.1281-10G>A)
c.1173-10G>A (n.1173-10G>A)
c.1101-10G>A (n.1101-10G>A)
c.1257-10G>A (n.1257-10G>A)
c.942-10G>A (n.942-10G>A)
 gnomAD v4
6g.73600452A=CA1638223964SLC17A5c.1260-11T= (n.1260-11T=)
c.1209-11T= (n.1209-11T=)
c.1062-11T= (n.1062-11T=)
c.1112-11T= (n.1112-11T=)
c.1029-11T= (n.1029-11T=)
c.1260-5238T= (n.1260-5238T=)
c.1281-11T= (n.1281-11T=)
c.1173-11T= (n.1173-11T=)
c.1101-11T= (n.1101-11T=)
c.1257-11T= (n.1257-11T=)
c.942-11T= (n.942-11T=)
6g.73600452A>GCA3890302SLC17A5c.1260-11T>C (n.1260-11T>C)
c.1209-11T>C (n.1209-11T>C)
c.1062-11T>C (n.1062-11T>C)
c.1112-11T>C (n.1112-11T>C)
c.1029-11T>C (n.1029-11T>C)
c.1260-5238T>C (n.1260-5238T>C)
c.1281-11T>C (n.1281-11T>C)
c.1173-11T>C (n.1173-11T>C)
c.1101-11T>C (n.1101-11T>C)
c.1257-11T>C (n.1257-11T>C)
c.942-11T>C (n.942-11T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73600456dupCA2679403320SLC17A5c.1260-12dup (n.1260-12dup)
c.1209-12dup (n.1209-12dup)
c.1062-12dup (n.1062-12dup)
c.1112-12dup (n.1112-12dup)
c.1029-12dup (n.1029-12dup)
c.1260-5239dup (n.1260-5239dup)
c.1281-12dup (n.1281-12dup)
c.1173-12dup (n.1173-12dup)
c.1101-12dup (n.1101-12dup)
c.1257-12dup (n.1257-12dup)
c.942-12dup (n.942-12dup)
 gnomAD v4

Number of alleles fetched