| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49251698A= | CA2428551399 | FOXP3 | c.1007T= (p.Phe336=) c.1112T= (p.Phe371=) c.1181T= (p.Phe394=) c.1031T= (p.Phe344=) c.*27T= (n.*27T=) c.962T= (p.Phe321=) c.1331T= (p.Phe444=) c.1130T= (p.Phe377=) c.1367T= (p.Phe456=) c.1058T= (p.Phe353=) | |
| X | g.49251698A>C | CA255857 | FOXP3 | c.1007T>G (p.Phe336Cys) c.1112T>G (p.Phe371Cys) c.1181T>G (p.Phe394Cys) c.1031T>G (p.Phe344Cys) c.*27T>G (n.*27T>G) c.962T>G (p.Phe321Cys) c.1331T>G (p.Phe444Cys) c.1130T>G (p.Phe377Cys) c.1367T>G (p.Phe456Cys) c.1058T>G (p.Phe353Cys) | ClinVar dbSNP |
| X | g.49251698A>G | CA412948765 | FOXP3 | c.1007T>C (p.Phe336Ser) c.1112T>C (p.Phe371Ser) c.1181T>C (p.Phe394Ser) c.1031T>C (p.Phe344Ser) c.*27T>C (n.*27T>C) c.962T>C (p.Phe321Ser) c.1331T>C (p.Phe444Ser) c.1130T>C (p.Phe377Ser) c.1367T>C (p.Phe456Ser) c.1058T>C (p.Phe353Ser) | |
| X | g.49251698A>T | CA412948766 | FOXP3 | c.1007T>A (p.Phe336Tyr) c.1112T>A (p.Phe371Tyr) c.1181T>A (p.Phe394Tyr) c.1031T>A (p.Phe344Tyr) c.*27T>A (n.*27T>A) c.962T>A (p.Phe321Tyr) c.1331T>A (p.Phe444Tyr) c.1130T>A (p.Phe377Tyr) c.1367T>A (p.Phe456Tyr) c.1058T>A (p.Phe353Tyr) | |
| X | g.49251699A>C | CA412948770 | FOXP3 | c.1006T>G (p.Phe336Val) c.1111T>G (p.Phe371Val) c.1180T>G (p.Phe394Val) c.1030T>G (p.Phe344Val) c.*26T>G (n.*26T>G) c.961T>G (p.Phe321Val) c.1330T>G (p.Phe444Val) c.1129T>G (p.Phe377Val) c.1366T>G (p.Phe456Val) c.1057T>G (p.Phe353Val) | |
| X | g.49251699A>G | CA412948771 | FOXP3 | c.1006T>C (p.Phe336Leu) c.1111T>C (p.Phe371Leu) c.1180T>C (p.Phe394Leu) c.1030T>C (p.Phe344Leu) c.*26T>C (n.*26T>C) c.961T>C (p.Phe321Leu) c.1330T>C (p.Phe444Leu) c.1129T>C (p.Phe377Leu) c.1366T>C (p.Phe456Leu) c.1057T>C (p.Phe353Leu) | |
| X | g.49251699A>T | CA412948772 | FOXP3 | c.1006T>A (p.Phe336Ile) c.1111T>A (p.Phe371Ile) c.1180T>A (p.Phe394Ile) c.1030T>A (p.Phe344Ile) c.*26T>A (n.*26T>A) c.961T>A (p.Phe321Ile) c.1330T>A (p.Phe444Ile) c.1129T>A (p.Phe377Ile) c.1366T>A (p.Phe456Ile) c.1057T>A (p.Phe353Ile) | |
| X | g.49251700C>A | CA412948775 | FOXP3 | c.1005G>T (p.Met335Ile) c.1110G>T (p.Met370Ile) c.1179G>T (p.Met393Ile) c.1029G>T (p.Met343Ile) c.*25G>T (n.*25G>T) c.960G>T (p.Met320Ile) c.1329G>T (p.Met443Ile) c.1128G>T (p.Met376Ile) c.1365G>T (p.Met455Ile) c.1056G>T (p.Met352Ile) | |
| X | g.49251700C>G | CA412948779 | FOXP3 | c.1005G>C (p.Met335Ile) c.1110G>C (p.Met370Ile) c.1179G>C (p.Met393Ile) c.1029G>C (p.Met343Ile) c.*25G>C (n.*25G>C) c.960G>C (p.Met320Ile) c.1329G>C (p.Met443Ile) c.1128G>C (p.Met376Ile) c.1365G>C (p.Met455Ile) c.1056G>C (p.Met352Ile) | |
| X | g.49251700C>T | CA412948777 | FOXP3 | c.1005G>A (p.Met335Ile) c.1110G>A (p.Met370Ile) c.1179G>A (p.Met393Ile) c.1029G>A (p.Met343Ile) c.*25G>A (n.*25G>A) c.960G>A (p.Met320Ile) c.1329G>A (p.Met443Ile) c.1128G>A (p.Met376Ile) c.1365G>A (p.Met455Ile) c.1056G>A (p.Met352Ile) | ClinVar |
| X | g.49251701A>C | CA412948781 | FOXP3 | c.1004T>G (p.Met335Arg) c.1109T>G (p.Met370Arg) c.1178T>G (p.Met393Arg) c.1028T>G (p.Met343Arg) c.*24T>G (n.*24T>G) c.959T>G (p.Met320Arg) c.1328T>G (p.Met443Arg) c.1127T>G (p.Met376Arg) c.1364T>G (p.Met455Arg) c.1055T>G (p.Met352Arg) | |
| X | g.49251701A>G | CA412948783 | FOXP3 | c.1004T>C (p.Met335Thr) c.1109T>C (p.Met370Thr) c.1178T>C (p.Met393Thr) c.1028T>C (p.Met343Thr) c.*24T>C (n.*24T>C) c.959T>C (p.Met320Thr) c.1328T>C (p.Met443Thr) c.1127T>C (p.Met376Thr) c.1364T>C (p.Met455Thr) c.1055T>C (p.Met352Thr) | |
| X | g.49251701A>T | CA412948784 | FOXP3 | c.1004T>A (p.Met335Lys) c.1109T>A (p.Met370Lys) c.1178T>A (p.Met393Lys) c.1028T>A (p.Met343Lys) c.*24T>A (n.*24T>A) c.959T>A (p.Met320Lys) c.1328T>A (p.Met443Lys) c.1127T>A (p.Met376Lys) c.1364T>A (p.Met455Lys) c.1055T>A (p.Met352Lys) | |
| X | g.49251702T>A | CA412948788 | FOXP3 | c.1003A>T (p.Met335Leu) c.1108A>T (p.Met370Leu) c.1177A>T (p.Met393Leu) c.1027A>T (p.Met343Leu) c.*23A>T (n.*23A>T) c.958A>T (p.Met320Leu) c.1327A>T (p.Met443Leu) c.1126A>T (p.Met376Leu) c.1363A>T (p.Met455Leu) c.1054A>T (p.Met352Leu) | |
| X | g.49251702T>C | CA16043289 | FOXP3 | c.1003A>G (p.Met335Val) c.1108A>G (p.Met370Val) c.1177A>G (p.Met393Val) c.1027A>G (p.Met343Val) c.*23A>G (n.*23A>G) c.958A>G (p.Met320Val) c.1327A>G (p.Met443Val) c.1126A>G (p.Met376Val) c.1363A>G (p.Met455Val) c.1054A>G (p.Met352Val) | ClinVar dbSNP |
| X | g.49251702T>G | CA412948790 | FOXP3 | c.1003A>C (p.Met335Leu) c.1108A>C (p.Met370Leu) c.1177A>C (p.Met393Leu) c.1027A>C (p.Met343Leu) c.*23A>C (n.*23A>C) c.958A>C (p.Met320Leu) c.1327A>C (p.Met443Leu) c.1126A>C (p.Met376Leu) c.1363A>C (p.Met455Leu) c.1054A>C (p.Met352Leu) | |
| X | g.49251702T= | CA2428551400 | FOXP3 | c.1003A= (p.Met335=) c.1108A= (p.Met370=) c.1177A= (p.Met393=) c.1027A= (p.Met343=) c.*23A= (n.*23A=) c.958A= (p.Met320=) c.1327A= (p.Met443=) c.1126A= (p.Met376=) c.1363A= (p.Met455=) c.1054A= (p.Met352=) | |
| X | g.49251703G>A | CA516569867 | FOXP3 | c.1002C>T (p.Arg334=) c.1107C>T (p.Arg369=) c.1176C>T (p.Arg392=) c.1026C>T (p.Arg342=) c.*22C>T (n.*22C>T) c.957C>T (p.Arg319=) c.1326C>T (p.Arg442=) c.1125C>T (p.Arg375=) c.1362C>T (p.Arg454=) c.1053C>T (p.Arg351=) | |
| X | g.49251703G>C | CA516569868 | FOXP3 | c.1002C>G (p.Arg334=) c.1107C>G (p.Arg369=) c.1176C>G (p.Arg392=) c.1026C>G (p.Arg342=) c.*22C>G (n.*22C>G) c.957C>G (p.Arg319=) c.1326C>G (p.Arg442=) c.1125C>G (p.Arg375=) c.1362C>G (p.Arg454=) c.1053C>G (p.Arg351=) | |
| X | g.49251703G>T | CA516569869 | FOXP3 | c.1002C>A (p.Arg334=) c.1107C>A (p.Arg369=) c.1176C>A (p.Arg392=) c.1026C>A (p.Arg342=) c.*22C>A (n.*22C>A) c.957C>A (p.Arg319=) c.1326C>A (p.Arg442=) c.1125C>A (p.Arg375=) c.1362C>A (p.Arg454=) c.1053C>A (p.Arg351=) | |
| X | g.49251704C>A | CA412948792 | FOXP3 | c.1001G>T (p.Arg334Leu) c.1106G>T (p.Arg369Leu) c.1175G>T (p.Arg392Leu) c.1025G>T (p.Arg342Leu) c.*21G>T (n.*21G>T) c.956G>T (p.Arg319Leu) c.1325G>T (p.Arg442Leu) c.1124G>T (p.Arg375Leu) c.1361G>T (p.Arg454Leu) c.1052G>T (p.Arg351Leu) | |
| X | g.49251704C= | CA2428551401 | FOXP3 | c.1001G= (p.Arg334=) c.1106G= (p.Arg369=) c.1175G= (p.Arg392=) c.1025G= (p.Arg342=) c.*21G= (n.*21G=) c.956G= (p.Arg319=) c.1325G= (p.Arg442=) c.1124G= (p.Arg375=) c.1361G= (p.Arg454=) c.1052G= (p.Arg351=) | |
| X | g.49251704C>G | CA412948795 | FOXP3 | c.1001G>C (p.Arg334Pro) c.1106G>C (p.Arg369Pro) c.1175G>C (p.Arg392Pro) c.1025G>C (p.Arg342Pro) c.*21G>C (n.*21G>C) c.956G>C (p.Arg319Pro) c.1325G>C (p.Arg442Pro) c.1124G>C (p.Arg375Pro) c.1361G>C (p.Arg454Pro) c.1052G>C (p.Arg351Pro) | gnomAD v4 |
| X | g.49251704C>T | CA10411663 | FOXP3 | c.1001G>A (p.Arg334His) c.1106G>A (p.Arg369His) c.1175G>A (p.Arg392His) c.1025G>A (p.Arg342His) c.*21G>A (n.*21G>A) c.956G>A (p.Arg319His) c.1325G>A (p.Arg442His) c.1124G>A (p.Arg375His) c.1361G>A (p.Arg454His) c.1052G>A (p.Arg351His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.49251705G>A | CA412948797 | FOXP3 | c.1000C>T (p.Arg334Cys) c.1105C>T (p.Arg369Cys) c.1174C>T (p.Arg392Cys) c.1024C>T (p.Arg342Cys) c.*20C>T (n.*20C>T) c.955C>T (p.Arg319Cys) c.1324C>T (p.Arg442Cys) c.1123C>T (p.Arg375Cys) c.1360C>T (p.Arg454Cys) c.1051C>T (p.Arg351Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.49251705G>C | CA412948799 | FOXP3 | c.1000C>G (p.Arg334Gly) c.1105C>G (p.Arg369Gly) c.1174C>G (p.Arg392Gly) c.1024C>G (p.Arg342Gly) c.*20C>G (n.*20C>G) c.955C>G (p.Arg319Gly) c.1324C>G (p.Arg442Gly) c.1123C>G (p.Arg375Gly) c.1360C>G (p.Arg454Gly) c.1051C>G (p.Arg351Gly) | |
| X | g.49251705G= | CA2428551402 | FOXP3 | c.1000C= (p.Arg334=) c.1105C= (p.Arg369=) c.1174C= (p.Arg392=) c.1024C= (p.Arg342=) c.*20C= (n.*20C=) c.955C= (p.Arg319=) c.1324C= (p.Arg442=) c.1123C= (p.Arg375=) c.1360C= (p.Arg454=) c.1051C= (p.Arg351=) | |
| X | g.49251705G>T | CA412948802 | FOXP3 | c.1000C>A (p.Arg334Ser) c.1105C>A (p.Arg369Ser) c.1174C>A (p.Arg392Ser) c.1024C>A (p.Arg342Ser) c.*20C>A (n.*20C>A) c.955C>A (p.Arg319Ser) c.1324C>A (p.Arg442Ser) c.1123C>A (p.Arg375Ser) c.1360C>A (p.Arg454Ser) c.1051C>A (p.Arg351Ser) | gnomAD v4 |
| X | g.49251706T>A | CA516569870 | FOXP3 | c.999A>T (p.Thr333=) c.1104A>T (p.Thr368=) c.1173A>T (p.Thr391=) c.1023A>T (p.Thr341=) c.*19A>T (n.*19A>T) c.954A>T (p.Thr318=) c.1323A>T (p.Thr441=) c.1122A>T (p.Thr374=) c.1359A>T (p.Thr453=) c.1050A>T (p.Thr350=) | |
| X | g.49251706T>C | CA516569871 | FOXP3 | c.999A>G (p.Thr333=) c.1104A>G (p.Thr368=) c.1173A>G (p.Thr391=) c.1023A>G (p.Thr341=) c.*19A>G (n.*19A>G) c.954A>G (p.Thr318=) c.1323A>G (p.Thr441=) c.1122A>G (p.Thr374=) c.1359A>G (p.Thr453=) c.1050A>G (p.Thr350=) | |
| X | g.49251706T>G | CA516569872 | FOXP3 | c.999A>C (p.Thr333=) c.1104A>C (p.Thr368=) c.1173A>C (p.Thr391=) c.1023A>C (p.Thr341=) c.*19A>C (n.*19A>C) c.954A>C (p.Thr318=) c.1323A>C (p.Thr441=) c.1122A>C (p.Thr374=) c.1359A>C (p.Thr453=) c.1050A>C (p.Thr350=) | |
| X | g.49251707G>A | CA412948807 | FOXP3 | c.998C>T (p.Thr333Ile) c.1103C>T (p.Thr368Ile) c.1172C>T (p.Thr391Ile) c.1022C>T (p.Thr341Ile) c.*18C>T (n.*18C>T) c.953C>T (p.Thr318Ile) c.1322C>T (p.Thr441Ile) c.1121C>T (p.Thr374Ile) c.1358C>T (p.Thr453Ile) c.1049C>T (p.Thr350Ile) | |
| X | g.49251707G>C | CA412948803 | FOXP3 | c.998C>G (p.Thr333Arg) c.1103C>G (p.Thr368Arg) c.1172C>G (p.Thr391Arg) c.1022C>G (p.Thr341Arg) c.*18C>G (n.*18C>G) c.953C>G (p.Thr318Arg) c.1322C>G (p.Thr441Arg) c.1121C>G (p.Thr374Arg) c.1358C>G (p.Thr453Arg) c.1049C>G (p.Thr350Arg) | |
| X | g.49251707G>T | CA412948805 | FOXP3 | c.998C>A (p.Thr333Lys) c.1103C>A (p.Thr368Lys) c.1172C>A (p.Thr391Lys) c.1022C>A (p.Thr341Lys) c.*18C>A (n.*18C>A) c.953C>A (p.Thr318Lys) c.1322C>A (p.Thr441Lys) c.1121C>A (p.Thr374Lys) c.1358C>A (p.Thr453Lys) c.1049C>A (p.Thr350Lys) | |
| X | g.49251708T>A | CA412948810 | FOXP3 | c.997A>T (p.Thr333Ser) c.1102A>T (p.Thr368Ser) c.1171A>T (p.Thr391Ser) c.1021A>T (p.Thr341Ser) c.*17A>T (n.*17A>T) c.952A>T (p.Thr318Ser) c.1321A>T (p.Thr441Ser) c.1120A>T (p.Thr374Ser) c.1357A>T (p.Thr453Ser) c.1048A>T (p.Thr350Ser) | |
| X | g.49251708T>C | CA412948811 | FOXP3 | c.997A>G (p.Thr333Ala) c.1102A>G (p.Thr368Ala) c.1171A>G (p.Thr391Ala) c.1021A>G (p.Thr341Ala) c.*17A>G (n.*17A>G) c.952A>G (p.Thr318Ala) c.1321A>G (p.Thr441Ala) c.1120A>G (p.Thr374Ala) c.1357A>G (p.Thr453Ala) c.1048A>G (p.Thr350Ala) | |
| X | g.49251708T>G | CA412948813 | FOXP3 | c.997A>C (p.Thr333Pro) c.1102A>C (p.Thr368Pro) c.1171A>C (p.Thr391Pro) c.1021A>C (p.Thr341Pro) c.*17A>C (n.*17A>C) c.952A>C (p.Thr318Pro) c.1321A>C (p.Thr441Pro) c.1120A>C (p.Thr374Pro) c.1357A>C (p.Thr453Pro) c.1048A>C (p.Thr350Pro) | |
| X | g.49251709G>A | CA516569873 | FOXP3 | c.996C>T (p.Phe332=) c.1101C>T (p.Phe367=) c.1170C>T (p.Phe390=) c.1020C>T (p.Phe340=) c.*16C>T (n.*16C>T) c.951C>T (p.Phe317=) c.1320C>T (p.Phe440=) c.1119C>T (p.Phe373=) c.1356C>T (p.Phe452=) c.1047C>T (p.Phe349=) | |
| X | g.49251709G>C | CA329133742 | FOXP3 | c.996C>G (p.Phe332Leu) c.1101C>G (p.Phe367Leu) c.1170C>G (p.Phe390Leu) c.1020C>G (p.Phe340Leu) c.*16C>G (n.*16C>G) c.951C>G (p.Phe317Leu) c.1320C>G (p.Phe440Leu) c.1119C>G (p.Phe373Leu) c.1356C>G (p.Phe452Leu) c.1047C>G (p.Phe349Leu) | dbSNP |
| X | g.49251709G= | CA2428551403 | FOXP3 | c.996C= (p.Phe332=) c.1101C= (p.Phe367=) c.1170C= (p.Phe390=) c.1020C= (p.Phe340=) c.*16C= (n.*16C=) c.951C= (p.Phe317=) c.1320C= (p.Phe440=) c.1119C= (p.Phe373=) c.1356C= (p.Phe452=) c.1047C= (p.Phe349=) | |
| X | g.49251709G>T | CA412948816 | FOXP3 | c.996C>A (p.Phe332Leu) c.1101C>A (p.Phe367Leu) c.1170C>A (p.Phe390Leu) c.1020C>A (p.Phe340Leu) c.*16C>A (n.*16C>A) c.951C>A (p.Phe317Leu) c.1320C>A (p.Phe440Leu) c.1119C>A (p.Phe373Leu) c.1356C>A (p.Phe452Leu) c.1047C>A (p.Phe349Leu) | |
| X | g.49251710A>C | CA412948820 | FOXP3 | c.995T>G (p.Phe332Cys) c.1100T>G (p.Phe367Cys) c.1169T>G (p.Phe390Cys) c.1019T>G (p.Phe340Cys) c.*15T>G (n.*15T>G) c.950T>G (p.Phe317Cys) c.1319T>G (p.Phe440Cys) c.1118T>G (p.Phe373Cys) c.1355T>G (p.Phe452Cys) c.1046T>G (p.Phe349Cys) | |
| X | g.49251710A>G | CA412948821 | FOXP3 | c.995T>C (p.Phe332Ser) c.1100T>C (p.Phe367Ser) c.1169T>C (p.Phe390Ser) c.1019T>C (p.Phe340Ser) c.*15T>C (n.*15T>C) c.950T>C (p.Phe317Ser) c.1319T>C (p.Phe440Ser) c.1118T>C (p.Phe373Ser) c.1355T>C (p.Phe452Ser) c.1046T>C (p.Phe349Ser) | |
| X | g.49251710A>T | CA412948823 | FOXP3 | c.995T>A (p.Phe332Tyr) c.1100T>A (p.Phe367Tyr) c.1169T>A (p.Phe390Tyr) c.1019T>A (p.Phe340Tyr) c.*15T>A (n.*15T>A) c.950T>A (p.Phe317Tyr) c.1319T>A (p.Phe440Tyr) c.1118T>A (p.Phe373Tyr) c.1355T>A (p.Phe452Tyr) c.1046T>A (p.Phe349Tyr) | |
| X | g.49251711A= | CA2428551404 | FOXP3 | c.994T= (p.Phe332=) c.1099T= (p.Phe367=) c.1168T= (p.Phe390=) c.1018T= (p.Phe340=) c.*14T= (n.*14T=) c.949T= (p.Phe317=) c.1318T= (p.Phe440=) c.1117T= (p.Phe373=) c.1354T= (p.Phe452=) c.1045T= (p.Phe349=) | |
| X | g.49251711A>C | CA412948826 | FOXP3 | c.994T>G (p.Phe332Val) c.1099T>G (p.Phe367Val) c.1168T>G (p.Phe390Val) c.1018T>G (p.Phe340Val) c.*14T>G (n.*14T>G) c.949T>G (p.Phe317Val) c.1318T>G (p.Phe440Val) c.1117T>G (p.Phe373Val) c.1354T>G (p.Phe452Val) c.1045T>G (p.Phe349Val) | |
| X | g.49251711A>G | CA255875 | FOXP3 | c.994T>C (p.Phe332Leu) c.1099T>C (p.Phe367Leu) c.1168T>C (p.Phe390Leu) c.1018T>C (p.Phe340Leu) c.*14T>C (n.*14T>C) c.949T>C (p.Phe317Leu) c.1318T>C (p.Phe440Leu) c.1117T>C (p.Phe373Leu) c.1354T>C (p.Phe452Leu) c.1045T>C (p.Phe349Leu) | ClinVar dbSNP |
| X | g.49251711A>T | CA412948829 | FOXP3 | c.994T>A (p.Phe332Ile) c.1099T>A (p.Phe367Ile) c.1168T>A (p.Phe390Ile) c.1018T>A (p.Phe340Ile) c.*14T>A (n.*14T>A) c.949T>A (p.Phe317Ile) c.1318T>A (p.Phe440Ile) c.1117T>A (p.Phe373Ile) c.1354T>A (p.Phe452Ile) c.1045T>A (p.Phe349Ile) | |
| X | g.49251712C>A | CA412948834 | FOXP3 | c.993G>T (p.Trp331Cys) c.1098G>T (p.Trp366Cys) c.1167G>T (p.Trp389Cys) c.1017G>T (p.Trp339Cys) c.*13G>T (n.*13G>T) c.948G>T (p.Trp316Cys) c.1317G>T (p.Trp439Cys) c.1116G>T (p.Trp372Cys) c.1353G>T (p.Trp451Cys) c.1044G>T (p.Trp348Cys) | |
| X | g.49251712C>G | CA412948833 | FOXP3 | c.993G>C (p.Trp331Cys) c.1098G>C (p.Trp366Cys) c.1167G>C (p.Trp389Cys) c.1017G>C (p.Trp339Cys) c.*13G>C (n.*13G>C) c.948G>C (p.Trp316Cys) c.1317G>C (p.Trp439Cys) c.1116G>C (p.Trp372Cys) c.1353G>C (p.Trp451Cys) c.1044G>C (p.Trp348Cys) |