WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49251336_49251341delinsAGGGGC | CA2428551298 | FOXP3 | c.1184_1189delinsGCCCCT (p.Gly395=) c.1289_1294delinsGCCCCT (p.Gly430=) c.1358_1363delinsGCCCCT (p.Gly453=) c.1208_1213delinsGCCCCT (p.Gly403=) c.1364_1369delinsGCCCCT (p.Gly455=) c.*204_*209delinsGCCCCT (n.*204_*209delinsGCCCCT) c.1319_1324delinsGCCCCT (p.Gly440=) c.1688_1693delinsGCCCCT (p.Gly563=) c.1307_1312delinsGCCCCT (p.Gly436=) c.1544_1549delinsGCCCCT (p.Gly515=) c.1508_1513delinsGCCCCT (p.Gly503=) c.1415_1420delinsGCCCCT (p.Gly472=) | |
| X | g.49251337_49251341del | CA2428551299 | FOXP3 | c.1184_1188del (p.Gly395ValfsTer27) c.1289_1293del (p.Gly430ValfsTer27) c.1358_1362del (p.Gly453ValfsTer?) c.1208_1212del (p.Gly403ValfsTer?) c.1364_1368del (p.Gly455ValfsTer?) c.*204_*208del (n.*204_*208del) c.1319_1323del (p.Gly440ValfsTer?) c.1358_1362del (p.Gly453ValfsTer27) c.1184_1188del (p.Gly395ValfsTer?) c.1688_1692del (p.Gly563ValfsTer27) c.1307_1311del (p.Gly436ValfsTer27) c.1544_1548del (p.Gly515ValfsTer27) c.1508_1512del (p.Gly503ValfsTer27) c.1415_1419del (p.Gly472ValfsTer27) | dbSNP |
| X | g.49251341C>A | CA412946955 | FOXP3 | c.1184G>T (p.Gly395Val) c.1289G>T (p.Gly430Val) c.1358G>T (p.Gly453Val) c.1208G>T (p.Gly403Val) c.1364G>T (p.Gly455Val) c.*204G>T (n.*204G>T) c.1319G>T (p.Gly440Val) c.1688G>T (p.Gly563Val) c.1307G>T (p.Gly436Val) c.1544G>T (p.Gly515Val) c.1508G>T (p.Gly503Val) c.1415G>T (p.Gly472Val) | |
| X | g.49251341C>G | CA412946958 | FOXP3 | c.1184G>C (p.Gly395Ala) c.1289G>C (p.Gly430Ala) c.1358G>C (p.Gly453Ala) c.1208G>C (p.Gly403Ala) c.1364G>C (p.Gly455Ala) c.*204G>C (n.*204G>C) c.1319G>C (p.Gly440Ala) c.1688G>C (p.Gly563Ala) c.1307G>C (p.Gly436Ala) c.1544G>C (p.Gly515Ala) c.1508G>C (p.Gly503Ala) c.1415G>C (p.Gly472Ala) | |
| X | g.49251341C>T | CA412946961 | FOXP3 | c.1184G>A (p.Gly395Asp) c.1289G>A (p.Gly430Asp) c.1358G>A (p.Gly453Asp) c.1208G>A (p.Gly403Asp) c.1364G>A (p.Gly455Asp) c.*204G>A (n.*204G>A) c.1319G>A (p.Gly440Asp) c.1688G>A (p.Gly563Asp) c.1307G>A (p.Gly436Asp) c.1544G>A (p.Gly515Asp) c.1508G>A (p.Gly503Asp) c.1415G>A (p.Gly472Asp) | gnomAD v4 |
| X | g.49251342C>A | CA412946963 | FOXP3 | c.1183G>T (p.Gly395Cys) c.1288G>T (p.Gly430Cys) c.1357G>T (p.Gly453Cys) c.1207G>T (p.Gly403Cys) c.1363G>T (p.Gly455Cys) c.*203G>T (n.*203G>T) c.1318G>T (p.Gly440Cys) c.1687G>T (p.Gly563Cys) c.1306G>T (p.Gly436Cys) c.1543G>T (p.Gly515Cys) c.1507G>T (p.Gly503Cys) c.1414G>T (p.Gly472Cys) | |
| X | g.49251342C>G | CA412946966 | FOXP3 | c.1183G>C (p.Gly395Arg) c.1288G>C (p.Gly430Arg) c.1357G>C (p.Gly453Arg) c.1207G>C (p.Gly403Arg) c.1363G>C (p.Gly455Arg) c.*203G>C (n.*203G>C) c.1318G>C (p.Gly440Arg) c.1687G>C (p.Gly563Arg) c.1306G>C (p.Gly436Arg) c.1543G>C (p.Gly515Arg) c.1507G>C (p.Gly503Arg) c.1414G>C (p.Gly472Arg) | |
| X | g.49251342C>T | CA412946969 | FOXP3 | c.1183G>A (p.Gly395Ser) c.1288G>A (p.Gly430Ser) c.1357G>A (p.Gly453Ser) c.1207G>A (p.Gly403Ser) c.1363G>A (p.Gly455Ser) c.*203G>A (n.*203G>A) c.1318G>A (p.Gly440Ser) c.1687G>A (p.Gly563Ser) c.1306G>A (p.Gly436Ser) c.1543G>A (p.Gly515Ser) c.1507G>A (p.Gly503Ser) c.1414G>A (p.Gly472Ser) | |
| X | g.49251343A>C | CA516569745 | FOXP3 | c.1182T>G (p.Pro394=) c.1287T>G (p.Pro429=) c.1356T>G (p.Pro452=) c.1206T>G (p.Pro402=) c.1362T>G (p.Pro454=) c.*202T>G (n.*202T>G) c.1317T>G (p.Pro439=) c.1686T>G (p.Pro562=) c.1305T>G (p.Pro435=) c.1542T>G (p.Pro514=) c.1506T>G (p.Pro502=) c.1413T>G (p.Pro471=) | |
| X | g.49251343A>G | CA516569747 | FOXP3 | c.1182T>C (p.Pro394=) c.1287T>C (p.Pro429=) c.1356T>C (p.Pro452=) c.1206T>C (p.Pro402=) c.1362T>C (p.Pro454=) c.*202T>C (n.*202T>C) c.1317T>C (p.Pro439=) c.1686T>C (p.Pro562=) c.1305T>C (p.Pro435=) c.1542T>C (p.Pro514=) c.1506T>C (p.Pro502=) c.1413T>C (p.Pro471=) | |
| X | g.49251343A>T | CA516569749 | FOXP3 | c.1182T>A (p.Pro394=) c.1287T>A (p.Pro429=) c.1356T>A (p.Pro452=) c.1206T>A (p.Pro402=) c.1362T>A (p.Pro454=) c.*202T>A (n.*202T>A) c.1317T>A (p.Pro439=) c.1686T>A (p.Pro562=) c.1305T>A (p.Pro435=) c.1542T>A (p.Pro514=) c.1506T>A (p.Pro502=) c.1413T>A (p.Pro471=) | |
| X | g.49251344G>A | CA412946972 | FOXP3 | c.1181C>T (p.Pro394Leu) c.1286C>T (p.Pro429Leu) c.1355C>T (p.Pro452Leu) c.1205C>T (p.Pro402Leu) c.1361C>T (p.Pro454Leu) c.*201C>T (n.*201C>T) c.1316C>T (p.Pro439Leu) c.1685C>T (p.Pro562Leu) c.1304C>T (p.Pro435Leu) c.1541C>T (p.Pro514Leu) c.1505C>T (p.Pro502Leu) c.1412C>T (p.Pro471Leu) | COSMIC |
| X | g.49251344G>C | CA412946973 | FOXP3 | c.1181C>G (p.Pro394Arg) c.1286C>G (p.Pro429Arg) c.1355C>G (p.Pro452Arg) c.1205C>G (p.Pro402Arg) c.1361C>G (p.Pro454Arg) c.*201C>G (n.*201C>G) c.1316C>G (p.Pro439Arg) c.1685C>G (p.Pro562Arg) c.1304C>G (p.Pro435Arg) c.1541C>G (p.Pro514Arg) c.1505C>G (p.Pro502Arg) c.1412C>G (p.Pro471Arg) | gnomAD v4 |
| X | g.49251344G>T | CA412946978 | FOXP3 | c.1181C>A (p.Pro394His) c.1286C>A (p.Pro429His) c.1355C>A (p.Pro452His) c.1205C>A (p.Pro402His) c.1361C>A (p.Pro454His) c.*201C>A (n.*201C>A) c.1316C>A (p.Pro439His) c.1685C>A (p.Pro562His) c.1304C>A (p.Pro435His) c.1541C>A (p.Pro514His) c.1505C>A (p.Pro502His) c.1412C>A (p.Pro471His) | |
| X | g.49251346_49251356del | CA2695233605 | FOXP3 | c.1171_1181del (p.Asn391TrpfsTer29) c.1276_1286del (p.Asn426TrpfsTer29) c.1345_1355del (p.Asn449TrpfsTer?) c.1195_1205del (p.Asn399TrpfsTer?) c.1351_1361del (p.Asn451TrpfsTer?) c.*191_*201del (n.*191_*201del) c.1306_1316del (p.Asn436TrpfsTer?) c.1345_1355del (p.Asn449TrpfsTer29) c.1171_1181del (p.Asn391TrpfsTer?) c.1675_1685del (p.Asn559TrpfsTer29) c.1294_1304del (p.Asn432TrpfsTer29) c.1531_1541del (p.Asn511TrpfsTer29) c.1495_1505del (p.Asn499TrpfsTer29) c.1402_1412del (p.Asn468TrpfsTer29) | |
| X | g.49251345G>A | CA10411631 | FOXP3 | c.1180C>T (p.Pro394Ser) c.1285C>T (p.Pro429Ser) c.1354C>T (p.Pro452Ser) c.1204C>T (p.Pro402Ser) c.1360C>T (p.Pro454Ser) c.*200C>T (n.*200C>T) c.1315C>T (p.Pro439Ser) c.1684C>T (p.Pro562Ser) c.1303C>T (p.Pro435Ser) c.1540C>T (p.Pro514Ser) c.1504C>T (p.Pro502Ser) c.1411C>T (p.Pro471Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.49251345G>C | CA412946982 | FOXP3 | c.1180C>G (p.Pro394Ala) c.1285C>G (p.Pro429Ala) c.1354C>G (p.Pro452Ala) c.1204C>G (p.Pro402Ala) c.1360C>G (p.Pro454Ala) c.*200C>G (n.*200C>G) c.1315C>G (p.Pro439Ala) c.1684C>G (p.Pro562Ala) c.1303C>G (p.Pro435Ala) c.1540C>G (p.Pro514Ala) c.1504C>G (p.Pro502Ala) c.1411C>G (p.Pro471Ala) | |
| X | g.49251345G= | CA2428551301 | FOXP3 | c.1180C= (p.Pro394=) c.1285C= (p.Pro429=) c.1354C= (p.Pro452=) c.1204C= (p.Pro402=) c.1360C= (p.Pro454=) c.*200C= (n.*200C=) c.1315C= (p.Pro439=) c.1684C= (p.Pro562=) c.1303C= (p.Pro435=) c.1540C= (p.Pro514=) c.1504C= (p.Pro502=) c.1411C= (p.Pro471=) | |
| X | g.49251345G>T | CA412946985 | FOXP3 | c.1180C>A (p.Pro394Thr) c.1285C>A (p.Pro429Thr) c.1354C>A (p.Pro452Thr) c.1204C>A (p.Pro402Thr) c.1360C>A (p.Pro454Thr) c.*200C>A (n.*200C>A) c.1315C>A (p.Pro439Thr) c.1684C>A (p.Pro562Thr) c.1303C>A (p.Pro435Thr) c.1540C>A (p.Pro514Thr) c.1504C>A (p.Pro502Thr) c.1411C>A (p.Pro471Thr) | |
| X | g.49251346T>A | CA516569753 | FOXP3 | c.1179A>T (p.Thr393=) c.1284A>T (p.Thr428=) c.1353A>T (p.Thr451=) c.1203A>T (p.Thr401=) c.1359A>T (p.Thr453=) c.*199A>T (n.*199A>T) c.1314A>T (p.Thr438=) c.1683A>T (p.Thr561=) c.1302A>T (p.Thr434=) c.1539A>T (p.Thr513=) c.1503A>T (p.Thr501=) c.1410A>T (p.Thr470=) | |
| X | g.49251346T>C | CA516569751 | FOXP3 | c.1179A>G (p.Thr393=) c.1284A>G (p.Thr428=) c.1353A>G (p.Thr451=) c.1203A>G (p.Thr401=) c.1359A>G (p.Thr453=) c.*199A>G (n.*199A>G) c.1314A>G (p.Thr438=) c.1683A>G (p.Thr561=) c.1302A>G (p.Thr434=) c.1539A>G (p.Thr513=) c.1503A>G (p.Thr501=) c.1410A>G (p.Thr470=) | |
| X | g.49251346T>G | CA516569752 | FOXP3 | c.1179A>C (p.Thr393=) c.1284A>C (p.Thr428=) c.1353A>C (p.Thr451=) c.1203A>C (p.Thr401=) c.1359A>C (p.Thr453=) c.*199A>C (n.*199A>C) c.1314A>C (p.Thr438=) c.1683A>C (p.Thr561=) c.1302A>C (p.Thr434=) c.1539A>C (p.Thr513=) c.1503A>C (p.Thr501=) c.1410A>C (p.Thr470=) | |
| X | g.49251347G>A | CA412946993 | FOXP3 | c.1178C>T (p.Thr393Ile) c.1283C>T (p.Thr428Ile) c.1352C>T (p.Thr451Ile) c.1202C>T (p.Thr401Ile) c.1358C>T (p.Thr453Ile) c.*198C>T (n.*198C>T) c.1313C>T (p.Thr438Ile) c.1682C>T (p.Thr561Ile) c.1301C>T (p.Thr434Ile) c.1538C>T (p.Thr513Ile) c.1502C>T (p.Thr501Ile) c.1409C>T (p.Thr470Ile) | dbSNP |
| X | g.49251347G>C | CA412946990 | FOXP3 | c.1178C>G (p.Thr393Arg) c.1283C>G (p.Thr428Arg) c.1352C>G (p.Thr451Arg) c.1202C>G (p.Thr401Arg) c.1358C>G (p.Thr453Arg) c.*198C>G (n.*198C>G) c.1313C>G (p.Thr438Arg) c.1682C>G (p.Thr561Arg) c.1301C>G (p.Thr434Arg) c.1538C>G (p.Thr513Arg) c.1502C>G (p.Thr501Arg) c.1409C>G (p.Thr470Arg) | |
| X | g.49251347G= | CA2428551302 | FOXP3 | c.1178C= (p.Thr393=) c.1283C= (p.Thr428=) c.1352C= (p.Thr451=) c.1202C= (p.Thr401=) c.1358C= (p.Thr453=) c.*198C= (n.*198C=) c.1313C= (p.Thr438=) c.1682C= (p.Thr561=) c.1301C= (p.Thr434=) c.1538C= (p.Thr513=) c.1502C= (p.Thr501=) c.1409C= (p.Thr470=) | |
| X | g.49251347G>T | CA412946987 | FOXP3 | c.1178C>A (p.Thr393Lys) c.1283C>A (p.Thr428Lys) c.1352C>A (p.Thr451Lys) c.1202C>A (p.Thr401Lys) c.1358C>A (p.Thr453Lys) c.*198C>A (n.*198C>A) c.1313C>A (p.Thr438Lys) c.1682C>A (p.Thr561Lys) c.1301C>A (p.Thr434Lys) c.1538C>A (p.Thr513Lys) c.1502C>A (p.Thr501Lys) c.1409C>A (p.Thr470Lys) | |
| X | g.49251348T>A | CA412946995 | FOXP3 | c.1177A>T (p.Thr393Ser) c.1282A>T (p.Thr428Ser) c.1351A>T (p.Thr451Ser) c.1201A>T (p.Thr401Ser) c.1357A>T (p.Thr453Ser) c.*197A>T (n.*197A>T) c.1312A>T (p.Thr438Ser) c.1681A>T (p.Thr561Ser) c.1300A>T (p.Thr434Ser) c.1537A>T (p.Thr513Ser) c.1501A>T (p.Thr501Ser) c.1408A>T (p.Thr470Ser) | |
| X | g.49251348T>C | CA412946998 | FOXP3 | c.1177A>G (p.Thr393Ala) c.1282A>G (p.Thr428Ala) c.1351A>G (p.Thr451Ala) c.1201A>G (p.Thr401Ala) c.1357A>G (p.Thr453Ala) c.*197A>G (n.*197A>G) c.1312A>G (p.Thr438Ala) c.1681A>G (p.Thr561Ala) c.1300A>G (p.Thr434Ala) c.1537A>G (p.Thr513Ala) c.1501A>G (p.Thr501Ala) c.1408A>G (p.Thr470Ala) | |
| X | g.49251348T>G | CA412947001 | FOXP3 | c.1177A>C (p.Thr393Pro) c.1282A>C (p.Thr428Pro) c.1351A>C (p.Thr451Pro) c.1201A>C (p.Thr401Pro) c.1357A>C (p.Thr453Pro) c.*197A>C (n.*197A>C) c.1312A>C (p.Thr438Pro) c.1681A>C (p.Thr561Pro) c.1300A>C (p.Thr434Pro) c.1537A>C (p.Thr513Pro) c.1501A>C (p.Thr501Pro) c.1408A>C (p.Thr470Pro) | |
| X | g.49251348dup | CA2695233606 | FOXP3 | c.1177dup (p.Thr393AsnfsTer?) c.1282dup (p.Thr428AsnfsTer?) c.1351dup (p.Thr451AsnfsTer?) c.1201dup (p.Thr401AsnfsTer?) c.1357dup (p.Thr453AsnfsTer?) c.*197dup (n.*197dup) c.1312dup (p.Thr438AsnfsTer?) c.1681dup (p.Thr561AsnfsTer?) c.1300dup (p.Thr434AsnfsTer?) c.1537dup (p.Thr513AsnfsTer?) c.1501dup (p.Thr501AsnfsTer?) c.1408dup (p.Thr470AsnfsTer?) | |
| X | g.49251349A>C | CA516569756 | FOXP3 | c.1176T>G (p.Pro392=) c.1281T>G (p.Pro427=) c.1350T>G (p.Pro450=) c.1200T>G (p.Pro400=) c.1356T>G (p.Pro452=) c.*196T>G (n.*196T>G) c.1311T>G (p.Pro437=) c.1680T>G (p.Pro560=) c.1299T>G (p.Pro433=) c.1536T>G (p.Pro512=) c.1500T>G (p.Pro500=) c.1407T>G (p.Pro469=) | |
| X | g.49251349A>G | CA516569757 | FOXP3 | c.1176T>C (p.Pro392=) c.1281T>C (p.Pro427=) c.1350T>C (p.Pro450=) c.1200T>C (p.Pro400=) c.1356T>C (p.Pro452=) c.*196T>C (n.*196T>C) c.1311T>C (p.Pro437=) c.1680T>C (p.Pro560=) c.1299T>C (p.Pro433=) c.1536T>C (p.Pro512=) c.1500T>C (p.Pro500=) c.1407T>C (p.Pro469=) | |
| X | g.49251349A>T | CA516569758 | FOXP3 | c.1176T>A (p.Pro392=) c.1281T>A (p.Pro427=) c.1350T>A (p.Pro450=) c.1200T>A (p.Pro400=) c.1356T>A (p.Pro452=) c.*196T>A (n.*196T>A) c.1311T>A (p.Pro437=) c.1680T>A (p.Pro560=) c.1299T>A (p.Pro433=) c.1536T>A (p.Pro512=) c.1500T>A (p.Pro500=) c.1407T>A (p.Pro469=) | |
| X | g.49251350G>A | CA412947004 | FOXP3 | c.1175C>T (p.Pro392Leu) c.1280C>T (p.Pro427Leu) c.1349C>T (p.Pro450Leu) c.1199C>T (p.Pro400Leu) c.1355C>T (p.Pro452Leu) c.*195C>T (n.*195C>T) c.1310C>T (p.Pro437Leu) c.1679C>T (p.Pro560Leu) c.1298C>T (p.Pro433Leu) c.1535C>T (p.Pro512Leu) c.1499C>T (p.Pro500Leu) c.1406C>T (p.Pro469Leu) | |
| X | g.49251350G>C | CA412947007 | FOXP3 | c.1175C>G (p.Pro392Arg) c.1280C>G (p.Pro427Arg) c.1349C>G (p.Pro450Arg) c.1199C>G (p.Pro400Arg) c.1355C>G (p.Pro452Arg) c.*195C>G (n.*195C>G) c.1310C>G (p.Pro437Arg) c.1679C>G (p.Pro560Arg) c.1298C>G (p.Pro433Arg) c.1535C>G (p.Pro512Arg) c.1499C>G (p.Pro500Arg) c.1406C>G (p.Pro469Arg) | ClinVar dbSNP |
| X | g.49251350G= | CA2428551303 | FOXP3 | c.1175C= (p.Pro392=) c.1280C= (p.Pro427=) c.1349C= (p.Pro450=) c.1199C= (p.Pro400=) c.1355C= (p.Pro452=) c.*195C= (n.*195C=) c.1310C= (p.Pro437=) c.1679C= (p.Pro560=) c.1298C= (p.Pro433=) c.1535C= (p.Pro512=) c.1499C= (p.Pro500=) c.1406C= (p.Pro469=) | |
| X | g.49251350G>T | CA412947010 | FOXP3 | c.1175C>A (p.Pro392His) c.1280C>A (p.Pro427His) c.1349C>A (p.Pro450His) c.1199C>A (p.Pro400His) c.1355C>A (p.Pro452His) c.*195C>A (n.*195C>A) c.1310C>A (p.Pro437His) c.1679C>A (p.Pro560His) c.1298C>A (p.Pro433His) c.1535C>A (p.Pro512His) c.1499C>A (p.Pro500His) c.1406C>A (p.Pro469His) | |
| X | g.49251351G>A | CA412947020 | FOXP3 | c.1174C>T (p.Pro392Ser) c.1279C>T (p.Pro427Ser) c.1348C>T (p.Pro450Ser) c.1198C>T (p.Pro400Ser) c.1354C>T (p.Pro452Ser) c.*194C>T (n.*194C>T) c.1309C>T (p.Pro437Ser) c.1678C>T (p.Pro560Ser) c.1297C>T (p.Pro433Ser) c.1534C>T (p.Pro512Ser) c.1498C>T (p.Pro500Ser) c.1405C>T (p.Pro469Ser) | |
| X | g.49251351G>C | CA412947014 | FOXP3 | c.1174C>G (p.Pro392Ala) c.1279C>G (p.Pro427Ala) c.1348C>G (p.Pro450Ala) c.1198C>G (p.Pro400Ala) c.1354C>G (p.Pro452Ala) c.*194C>G (n.*194C>G) c.1309C>G (p.Pro437Ala) c.1678C>G (p.Pro560Ala) c.1297C>G (p.Pro433Ala) c.1534C>G (p.Pro512Ala) c.1498C>G (p.Pro500Ala) c.1405C>G (p.Pro469Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.49251351G= | CA2428551304 | FOXP3 | c.1174C= (p.Pro392=) c.1279C= (p.Pro427=) c.1348C= (p.Pro450=) c.1198C= (p.Pro400=) c.1354C= (p.Pro452=) c.*194C= (n.*194C=) c.1309C= (p.Pro437=) c.1678C= (p.Pro560=) c.1297C= (p.Pro433=) c.1534C= (p.Pro512=) c.1498C= (p.Pro500=) c.1405C= (p.Pro469=) | |
| X | g.49251351G>T | CA412947016 | FOXP3 | c.1174C>A (p.Pro392Thr) c.1279C>A (p.Pro427Thr) c.1348C>A (p.Pro450Thr) c.1198C>A (p.Pro400Thr) c.1354C>A (p.Pro452Thr) c.*194C>A (n.*194C>A) c.1309C>A (p.Pro437Thr) c.1678C>A (p.Pro560Thr) c.1297C>A (p.Pro433Thr) c.1534C>A (p.Pro512Thr) c.1498C>A (p.Pro500Thr) c.1405C>A (p.Pro469Thr) | |
| X | g.49251352G>A | CA516569759 | FOXP3 | c.1173C>T (p.Asn391=) c.1278C>T (p.Asn426=) c.1347C>T (p.Asn449=) c.1197C>T (p.Asn399=) c.1353C>T (p.Asn451=) c.*193C>T (n.*193C>T) c.1308C>T (p.Asn436=) c.1677C>T (p.Asn559=) c.1296C>T (p.Asn432=) c.1533C>T (p.Asn511=) c.1497C>T (p.Asn499=) c.1404C>T (p.Asn468=) | |
| X | g.49251352G>C | CA412947024 | FOXP3 | c.1173C>G (p.Asn391Lys) c.1278C>G (p.Asn426Lys) c.1347C>G (p.Asn449Lys) c.1197C>G (p.Asn399Lys) c.1353C>G (p.Asn451Lys) c.*193C>G (n.*193C>G) c.1308C>G (p.Asn436Lys) c.1677C>G (p.Asn559Lys) c.1296C>G (p.Asn432Lys) c.1533C>G (p.Asn511Lys) c.1497C>G (p.Asn499Lys) c.1404C>G (p.Asn468Lys) | |
| X | g.49251352G= | CA2428551305 | FOXP3 | c.1173C= (p.Asn391=) c.1278C= (p.Asn426=) c.1347C= (p.Asn449=) c.1197C= (p.Asn399=) c.1353C= (p.Asn451=) c.*193C= (n.*193C=) c.1308C= (p.Asn436=) c.1677C= (p.Asn559=) c.1296C= (p.Asn432=) c.1533C= (p.Asn511=) c.1497C= (p.Asn499=) c.1404C= (p.Asn468=) | |
| X | g.49251352G>T | CA10411632 | FOXP3 | c.1173C>A (p.Asn391Lys) c.1278C>A (p.Asn426Lys) c.1347C>A (p.Asn449Lys) c.1197C>A (p.Asn399Lys) c.1353C>A (p.Asn451Lys) c.*193C>A (n.*193C>A) c.1308C>A (p.Asn436Lys) c.1677C>A (p.Asn559Lys) c.1296C>A (p.Asn432Lys) c.1533C>A (p.Asn511Lys) c.1497C>A (p.Asn499Lys) c.1404C>A (p.Asn468Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49251353T>A | CA412947029 | FOXP3 | c.1172A>T (p.Asn391Ile) c.1277A>T (p.Asn426Ile) c.1346A>T (p.Asn449Ile) c.1196A>T (p.Asn399Ile) c.1352A>T (p.Asn451Ile) c.*192A>T (n.*192A>T) c.1307A>T (p.Asn436Ile) c.1676A>T (p.Asn559Ile) c.1295A>T (p.Asn432Ile) c.1532A>T (p.Asn511Ile) c.1496A>T (p.Asn499Ile) c.1403A>T (p.Asn468Ile) | |
| X | g.49251353T>C | CA412947031 | FOXP3 | c.1172A>G (p.Asn391Ser) c.1277A>G (p.Asn426Ser) c.1346A>G (p.Asn449Ser) c.1196A>G (p.Asn399Ser) c.1352A>G (p.Asn451Ser) c.*192A>G (n.*192A>G) c.1307A>G (p.Asn436Ser) c.1676A>G (p.Asn559Ser) c.1295A>G (p.Asn432Ser) c.1532A>G (p.Asn511Ser) c.1496A>G (p.Asn499Ser) c.1403A>G (p.Asn468Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.49251353T>G | CA412947034 | FOXP3 | c.1172A>C (p.Asn391Thr) c.1277A>C (p.Asn426Thr) c.1346A>C (p.Asn449Thr) c.1196A>C (p.Asn399Thr) c.1352A>C (p.Asn451Thr) c.*192A>C (n.*192A>C) c.1307A>C (p.Asn436Thr) c.1676A>C (p.Asn559Thr) c.1295A>C (p.Asn432Thr) c.1532A>C (p.Asn511Thr) c.1496A>C (p.Asn499Thr) c.1403A>C (p.Asn468Thr) | |
| X | g.49251353T= | CA2428551306 | FOXP3 | c.1172A= (p.Asn391=) c.1277A= (p.Asn426=) c.1346A= (p.Asn449=) c.1196A= (p.Asn399=) c.1352A= (p.Asn451=) c.*192A= (n.*192A=) c.1307A= (p.Asn436=) c.1676A= (p.Asn559=) c.1295A= (p.Asn432=) c.1532A= (p.Asn511=) c.1496A= (p.Asn499=) c.1403A= (p.Asn468=) | |
| X | g.49251354T>A | CA412947040 | FOXP3 | c.1171A>T (p.Asn391Tyr) c.1276A>T (p.Asn426Tyr) c.1345A>T (p.Asn449Tyr) c.1195A>T (p.Asn399Tyr) c.1351A>T (p.Asn451Tyr) c.*191A>T (n.*191A>T) c.1306A>T (p.Asn436Tyr) c.1675A>T (p.Asn559Tyr) c.1294A>T (p.Asn432Tyr) c.1531A>T (p.Asn511Tyr) c.1495A>T (p.Asn499Tyr) c.1402A>T (p.Asn468Tyr) |