| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49253161G>A | CA16043255 | FOXP3 | c.904C>T (p.Arg302Ter) c.1009C>T (p.Arg337Ter) c.1078C>T (p.Arg360Ter) c.928C>T (p.Arg310Ter) c.967+756C>T (n.967+756C>T) c.859C>T (p.Arg287Ter) c.1228C>T (p.Arg410Ter) c.1027C>T (p.Arg343Ter) c.1264C>T (p.Arg422Ter) c.955C>T (p.Arg319Ter) | ClinVar dbSNP |
| X | g.49253161G>C | CA412950216 | FOXP3 | c.904C>G (p.Arg302Gly) c.1009C>G (p.Arg337Gly) c.1078C>G (p.Arg360Gly) c.928C>G (p.Arg310Gly) c.967+756C>G (n.967+756C>G) c.859C>G (p.Arg287Gly) c.1228C>G (p.Arg410Gly) c.1027C>G (p.Arg343Gly) c.1264C>G (p.Arg422Gly) c.955C>G (p.Arg319Gly) | |
| X | g.49253161G= | CA2428551796 | FOXP3 | c.904C= (p.Arg302=) c.1009C= (p.Arg337=) c.1078C= (p.Arg360=) c.928C= (p.Arg310=) c.967+756C= (n.967+756C=) c.859C= (p.Arg287=) c.1228C= (p.Arg410=) c.1027C= (p.Arg343=) c.1264C= (p.Arg422=) c.955C= (p.Arg319=) | |
| X | g.49253161G>T | CA516395778 | FOXP3 | c.904C>A (p.Arg302=) c.1009C>A (p.Arg337=) c.1078C>A (p.Arg360=) c.928C>A (p.Arg310=) c.967+756C>A (n.967+756C>A) c.859C>A (p.Arg287=) c.1228C>A (p.Arg410=) c.1027C>A (p.Arg343=) c.1264C>A (p.Arg422=) c.955C>A (p.Arg319=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.49253162C>A | CA412950218 | FOXP3 | c.903G>T (p.Met301Ile) c.1008G>T (p.Met336Ile) c.1077G>T (p.Met359Ile) c.927G>T (p.Met309Ile) c.967+755G>T (n.967+755G>T) c.858G>T (p.Met286Ile) c.1227G>T (p.Met409Ile) c.1026G>T (p.Met342Ile) c.1263G>T (p.Met421Ile) c.954G>T (p.Met318Ile) | |
| X | g.49253162C>G | CA412950220 | FOXP3 | c.903G>C (p.Met301Ile) c.1008G>C (p.Met336Ile) c.1077G>C (p.Met359Ile) c.927G>C (p.Met309Ile) c.967+755G>C (n.967+755G>C) c.858G>C (p.Met286Ile) c.1227G>C (p.Met409Ile) c.1026G>C (p.Met342Ile) c.1263G>C (p.Met421Ile) c.954G>C (p.Met318Ile) | |
| X | g.49253162C>T | CA412950222 | FOXP3 | c.903G>A (p.Met301Ile) c.1008G>A (p.Met336Ile) c.1077G>A (p.Met359Ile) c.927G>A (p.Met309Ile) c.967+755G>A (n.967+755G>A) c.858G>A (p.Met286Ile) c.1227G>A (p.Met409Ile) c.1026G>A (p.Met342Ile) c.1263G>A (p.Met421Ile) c.954G>A (p.Met318Ile) | |
| X | g.49253162_49253163insCGT | CA2521248915 | FOXP3 | c.902_903insACG (p.Met301delinsIleArg) c.1007_1008insACG (p.Met336delinsIleArg) c.1076_1077insACG (p.Met359delinsIleArg) c.926_927insACG (p.Met309delinsIleArg) c.967+754_967+755insACG (n.967+754_967+755insACG) c.857_858insACG (p.Met286delinsIleArg) c.1226_1227insACG (p.Met409delinsIleArg) c.1025_1026insACG (p.Met342delinsIleArg) c.1262_1263insACG (p.Met421delinsIleArg) c.953_954insACG (p.Met318delinsIleArg) | |
| X | g.49253163A>C | CA412950224 | FOXP3 | c.902T>G (p.Met301Arg) c.1007T>G (p.Met336Arg) c.1076T>G (p.Met359Arg) c.926T>G (p.Met309Arg) c.967+754T>G (n.967+754T>G) c.857T>G (p.Met286Arg) c.1226T>G (p.Met409Arg) c.1025T>G (p.Met342Arg) c.1262T>G (p.Met421Arg) c.953T>G (p.Met318Arg) | |
| X | g.49253163A>G | CA412950228 | FOXP3 | c.902T>C (p.Met301Thr) c.1007T>C (p.Met336Thr) c.1076T>C (p.Met359Thr) c.926T>C (p.Met309Thr) c.967+754T>C (n.967+754T>C) c.857T>C (p.Met286Thr) c.1226T>C (p.Met409Thr) c.1025T>C (p.Met342Thr) c.1262T>C (p.Met421Thr) c.953T>C (p.Met318Thr) | gnomAD v4 |
| X | g.49253163A>T | CA412950226 | FOXP3 | c.902T>A (p.Met301Lys) c.1007T>A (p.Met336Lys) c.1076T>A (p.Met359Lys) c.926T>A (p.Met309Lys) c.967+754T>A (n.967+754T>A) c.857T>A (p.Met286Lys) c.1226T>A (p.Met409Lys) c.1025T>A (p.Met342Lys) c.1262T>A (p.Met421Lys) c.953T>A (p.Met318Lys) | |
| X | g.49253164T>A | CA412950229 | FOXP3 | c.901A>T (p.Met301Leu) c.1006A>T (p.Met336Leu) c.1075A>T (p.Met359Leu) c.925A>T (p.Met309Leu) c.967+753A>T (n.967+753A>T) c.856A>T (p.Met286Leu) c.1225A>T (p.Met409Leu) c.1024A>T (p.Met342Leu) c.1261A>T (p.Met421Leu) c.952A>T (p.Met318Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.49253164T>C | CA412950231 | FOXP3 | c.901A>G (p.Met301Val) c.1006A>G (p.Met336Val) c.1075A>G (p.Met359Val) c.925A>G (p.Met309Val) c.967+753A>G (n.967+753A>G) c.856A>G (p.Met286Val) c.1225A>G (p.Met409Val) c.1024A>G (p.Met342Val) c.1261A>G (p.Met421Val) c.952A>G (p.Met318Val) | |
| X | g.49253164T>G | CA412950233 | FOXP3 | c.901A>C (p.Met301Leu) c.1006A>C (p.Met336Leu) c.1075A>C (p.Met359Leu) c.925A>C (p.Met309Leu) c.967+753A>C (n.967+753A>C) c.856A>C (p.Met286Leu) c.1225A>C (p.Met409Leu) c.1024A>C (p.Met342Leu) c.1261A>C (p.Met421Leu) c.952A>C (p.Met318Leu) | |
| X | g.49253164T= | CA2428551802 | FOXP3 | c.901A= (p.Met301=) c.1006A= (p.Met336=) c.1075A= (p.Met359=) c.925A= (p.Met309=) c.967+753A= (n.967+753A=) c.856A= (p.Met286=) c.1225A= (p.Met409=) c.1024A= (p.Met342=) c.1261A= (p.Met421=) c.952A= (p.Met318=) | |
| X | g.49253165G>A | CA516395789 | FOXP3 | c.900C>T (p.Asn300=) c.1005C>T (p.Asn335=) c.1074C>T (p.Asn358=) c.924C>T (p.Asn308=) c.967+752C>T (n.967+752C>T) c.855C>T (p.Asn285=) c.1224C>T (p.Asn408=) c.1023C>T (p.Asn341=) c.1260C>T (p.Asn420=) c.951C>T (p.Asn317=) | |
| X | g.49253165G>C | CA412950235 | FOXP3 | c.900C>G (p.Asn300Lys) c.1005C>G (p.Asn335Lys) c.1074C>G (p.Asn358Lys) c.924C>G (p.Asn308Lys) c.967+752C>G (n.967+752C>G) c.855C>G (p.Asn285Lys) c.1224C>G (p.Asn408Lys) c.1023C>G (p.Asn341Lys) c.1260C>G (p.Asn420Lys) c.951C>G (p.Asn317Lys) | |
| X | g.49253165G>T | CA412950237 | FOXP3 | c.900C>A (p.Asn300Lys) c.1005C>A (p.Asn335Lys) c.1074C>A (p.Asn358Lys) c.924C>A (p.Asn308Lys) c.967+752C>A (n.967+752C>A) c.855C>A (p.Asn285Lys) c.1224C>A (p.Asn408Lys) c.1023C>A (p.Asn341Lys) c.1260C>A (p.Asn420Lys) c.951C>A (p.Asn317Lys) | |
| X | g.49253165_49253173del | CA2514943595 | FOXP3 | c.892_900del (p.Phe298_Asn300del) c.997_1005del (p.Phe333_Asn335del) c.1066_1074del (p.Phe356_Asn358del) c.916_924del (p.Phe306_Asn308del) c.967+744_967+752del (n.967+744_967+752del) c.847_855del (p.Phe283_Asn285del) c.1216_1224del (p.Phe406_Asn408del) c.1015_1023del (p.Phe339_Asn341del) c.1252_1260del (p.Phe418_Asn420del) c.943_951del (p.Phe315_Asn317del) | |
| X | g.49253166T>A | CA412950239 | FOXP3 | c.899A>T (p.Asn300Ile) c.1004A>T (p.Asn335Ile) c.1073A>T (p.Asn358Ile) c.923A>T (p.Asn308Ile) c.967+751A>T (n.967+751A>T) c.854A>T (p.Asn285Ile) c.1223A>T (p.Asn408Ile) c.1022A>T (p.Asn341Ile) c.1259A>T (p.Asn420Ile) c.950A>T (p.Asn317Ile) | |
| X | g.49253166T>C | CA412950241 | FOXP3 | c.899A>G (p.Asn300Ser) c.1004A>G (p.Asn335Ser) c.1073A>G (p.Asn358Ser) c.923A>G (p.Asn308Ser) c.967+751A>G (n.967+751A>G) c.854A>G (p.Asn285Ser) c.1223A>G (p.Asn408Ser) c.1022A>G (p.Asn341Ser) c.1259A>G (p.Asn420Ser) c.950A>G (p.Asn317Ser) | |
| X | g.49253166T>G | CA412950243 | FOXP3 | c.899A>C (p.Asn300Thr) c.1004A>C (p.Asn335Thr) c.1073A>C (p.Asn358Thr) c.923A>C (p.Asn308Thr) c.967+751A>C (n.967+751A>C) c.854A>C (p.Asn285Thr) c.1223A>C (p.Asn408Thr) c.1022A>C (p.Asn341Thr) c.1259A>C (p.Asn420Thr) c.950A>C (p.Asn317Thr) | |
| X | g.49253167T>A | CA412950245 | FOXP3 | c.898A>T (p.Asn300Tyr) c.1003A>T (p.Asn335Tyr) c.1072A>T (p.Asn358Tyr) c.922A>T (p.Asn308Tyr) c.967+750A>T (n.967+750A>T) c.853A>T (p.Asn285Tyr) c.1222A>T (p.Asn408Tyr) c.1021A>T (p.Asn341Tyr) c.1258A>T (p.Asn420Tyr) c.949A>T (p.Asn317Tyr) | |
| X | g.49253167T>C | CA412950247 | FOXP3 | c.898A>G (p.Asn300Asp) c.1003A>G (p.Asn335Asp) c.1072A>G (p.Asn358Asp) c.922A>G (p.Asn308Asp) c.967+750A>G (n.967+750A>G) c.853A>G (p.Asn285Asp) c.1222A>G (p.Asn408Asp) c.1021A>G (p.Asn341Asp) c.1258A>G (p.Asn420Asp) c.949A>G (p.Asn317Asp) | |
| X | g.49253167T>G | CA412950249 | FOXP3 | c.898A>C (p.Asn300His) c.1003A>C (p.Asn335His) c.1072A>C (p.Asn358His) c.922A>C (p.Asn308His) c.967+750A>C (n.967+750A>C) c.853A>C (p.Asn285His) c.1222A>C (p.Asn408His) c.1021A>C (p.Asn341His) c.1258A>C (p.Asn420His) c.949A>C (p.Asn317His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.49253167T= | CA2428551805 | FOXP3 | c.898A= (p.Asn300=) c.1003A= (p.Asn335=) c.1072A= (p.Asn358=) c.922A= (p.Asn308=) c.967+750A= (n.967+750A=) c.853A= (p.Asn285=) c.1222A= (p.Asn408=) c.1021A= (p.Asn341=) c.1258A= (p.Asn420=) c.949A= (p.Asn317=) | |
| X | g.49253168G>A | CA516395803 | FOXP3 | c.897C>T (p.His299=) c.1002C>T (p.His334=) c.1071C>T (p.His357=) c.921C>T (p.His307=) c.967+749C>T (n.967+749C>T) c.852C>T (p.His284=) c.1221C>T (p.His407=) c.1020C>T (p.His340=) c.1257C>T (p.His419=) c.948C>T (p.His316=) | |
| X | g.49253168G>C | CA412950253 | FOXP3 | c.897C>G (p.His299Gln) c.1002C>G (p.His334Gln) c.1071C>G (p.His357Gln) c.921C>G (p.His307Gln) c.967+749C>G (n.967+749C>G) c.852C>G (p.His284Gln) c.1221C>G (p.His407Gln) c.1020C>G (p.His340Gln) c.1257C>G (p.His419Gln) c.948C>G (p.His316Gln) | |
| X | g.49253168G>T | CA412950251 | FOXP3 | c.897C>A (p.His299Gln) c.1002C>A (p.His334Gln) c.1071C>A (p.His357Gln) c.921C>A (p.His307Gln) c.967+749C>A (n.967+749C>A) c.852C>A (p.His284Gln) c.1221C>A (p.His407Gln) c.1020C>A (p.His340Gln) c.1257C>A (p.His419Gln) c.948C>A (p.His316Gln) | |
| X | g.49253169T>A | CA412950256 | FOXP3 | c.896A>T (p.His299Leu) c.1001A>T (p.His334Leu) c.1070A>T (p.His357Leu) c.920A>T (p.His307Leu) c.967+748A>T (n.967+748A>T) c.851A>T (p.His284Leu) c.1220A>T (p.His407Leu) c.1019A>T (p.His340Leu) c.1256A>T (p.His419Leu) c.947A>T (p.His316Leu) | |
| X | g.49253169T>C | CA412950257 | FOXP3 | c.896A>G (p.His299Arg) c.1001A>G (p.His334Arg) c.1070A>G (p.His357Arg) c.920A>G (p.His307Arg) c.967+748A>G (n.967+748A>G) c.851A>G (p.His284Arg) c.1220A>G (p.His407Arg) c.1019A>G (p.His340Arg) c.1256A>G (p.His419Arg) c.947A>G (p.His316Arg) | |
| X | g.49253169T>G | CA412950259 | FOXP3 | c.896A>C (p.His299Pro) c.1001A>C (p.His334Pro) c.1070A>C (p.His357Pro) c.920A>C (p.His307Pro) c.967+748A>C (n.967+748A>C) c.851A>C (p.His284Pro) c.1220A>C (p.His407Pro) c.1019A>C (p.His340Pro) c.1256A>C (p.His419Pro) c.947A>C (p.His316Pro) | |
| X | g.49253170G>A | CA412950262 | FOXP3 | c.895C>T (p.His299Tyr) c.1000C>T (p.His334Tyr) c.1069C>T (p.His357Tyr) c.919C>T (p.His307Tyr) c.967+747C>T (n.967+747C>T) c.850C>T (p.His284Tyr) c.1219C>T (p.His407Tyr) c.1018C>T (p.His340Tyr) c.1255C>T (p.His419Tyr) c.946C>T (p.His316Tyr) | |
| X | g.49253170G>C | CA412950263 | FOXP3 | c.895C>G (p.His299Asp) c.1000C>G (p.His334Asp) c.1069C>G (p.His357Asp) c.919C>G (p.His307Asp) c.967+747C>G (n.967+747C>G) c.850C>G (p.His284Asp) c.1219C>G (p.His407Asp) c.1018C>G (p.His340Asp) c.1255C>G (p.His419Asp) c.946C>G (p.His316Asp) | |
| X | g.49253170G>T | CA412950264 | FOXP3 | c.895C>A (p.His299Asn) c.1000C>A (p.His334Asn) c.1069C>A (p.His357Asn) c.919C>A (p.His307Asn) c.967+747C>A (n.967+747C>A) c.850C>A (p.His284Asn) c.1219C>A (p.His407Asn) c.1018C>A (p.His340Asn) c.1255C>A (p.His419Asn) c.946C>A (p.His316Asn) | gnomAD v4 |
| X | g.49253171del | CA2579609006 | FOXP3 | c.895del (p.His299ThrfsTer?) c.1000del (p.His334ThrfsTer?) c.1069del (p.His357ThrfsTer?) c.919del (p.His307ThrfsTer?) c.967+747del (n.967+747del) c.850del (p.His284ThrfsTer?) c.1219del (p.His407ThrfsTer?) c.1018del (p.His340ThrfsTer?) c.1255del (p.His419ThrfsTer?) c.946del (p.His316ThrfsTer?) | |
| X | g.49253171G>A | CA516395817 | FOXP3 | c.894C>T (p.Phe298=) c.999C>T (p.Phe333=) c.1068C>T (p.Phe356=) c.918C>T (p.Phe306=) c.967+746C>T (n.967+746C>T) c.849C>T (p.Phe283=) c.1218C>T (p.Phe406=) c.1017C>T (p.Phe339=) c.1254C>T (p.Phe418=) c.945C>T (p.Phe315=) | |
| X | g.49253171G>C | CA412950266 | FOXP3 | c.894C>G (p.Phe298Leu) c.999C>G (p.Phe333Leu) c.1068C>G (p.Phe356Leu) c.918C>G (p.Phe306Leu) c.967+746C>G (n.967+746C>G) c.849C>G (p.Phe283Leu) c.1218C>G (p.Phe406Leu) c.1017C>G (p.Phe339Leu) c.1254C>G (p.Phe418Leu) c.945C>G (p.Phe315Leu) | |
| X | g.49253171G>T | CA412950268 | FOXP3 | c.894C>A (p.Phe298Leu) c.999C>A (p.Phe333Leu) c.1068C>A (p.Phe356Leu) c.918C>A (p.Phe306Leu) c.967+746C>A (n.967+746C>A) c.849C>A (p.Phe283Leu) c.1218C>A (p.Phe406Leu) c.1017C>A (p.Phe339Leu) c.1254C>A (p.Phe418Leu) c.945C>A (p.Phe315Leu) | |
| X | g.49253172A>C | CA412950270 | FOXP3 | c.893T>G (p.Phe298Cys) c.998T>G (p.Phe333Cys) c.1067T>G (p.Phe356Cys) c.917T>G (p.Phe306Cys) c.967+745T>G (n.967+745T>G) c.848T>G (p.Phe283Cys) c.1217T>G (p.Phe406Cys) c.1016T>G (p.Phe339Cys) c.1253T>G (p.Phe418Cys) c.944T>G (p.Phe315Cys) | |
| X | g.49253172A>G | CA412950272 | FOXP3 | c.893T>C (p.Phe298Ser) c.998T>C (p.Phe333Ser) c.1067T>C (p.Phe356Ser) c.917T>C (p.Phe306Ser) c.967+745T>C (n.967+745T>C) c.848T>C (p.Phe283Ser) c.1217T>C (p.Phe406Ser) c.1016T>C (p.Phe339Ser) c.1253T>C (p.Phe418Ser) c.944T>C (p.Phe315Ser) | |
| X | g.49253172A>T | CA412950274 | FOXP3 | c.893T>A (p.Phe298Tyr) c.998T>A (p.Phe333Tyr) c.1067T>A (p.Phe356Tyr) c.917T>A (p.Phe306Tyr) c.967+745T>A (n.967+745T>A) c.848T>A (p.Phe283Tyr) c.1217T>A (p.Phe406Tyr) c.1016T>A (p.Phe339Tyr) c.1253T>A (p.Phe418Tyr) c.944T>A (p.Phe315Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.49253173A>C | CA412950276 | FOXP3 | c.892T>G (p.Phe298Val) c.997T>G (p.Phe333Val) c.1066T>G (p.Phe356Val) c.916T>G (p.Phe306Val) c.967+744T>G (n.967+744T>G) c.847T>G (p.Phe283Val) c.1216T>G (p.Phe406Val) c.1015T>G (p.Phe339Val) c.1252T>G (p.Phe418Val) c.943T>G (p.Phe315Val) | |
| X | g.49253173A>G | CA412950278 | FOXP3 | c.892T>C (p.Phe298Leu) c.997T>C (p.Phe333Leu) c.1066T>C (p.Phe356Leu) c.916T>C (p.Phe306Leu) c.967+744T>C (n.967+744T>C) c.847T>C (p.Phe283Leu) c.1216T>C (p.Phe406Leu) c.1015T>C (p.Phe339Leu) c.1252T>C (p.Phe418Leu) c.943T>C (p.Phe315Leu) | |
| X | g.49253173A>T | CA412950280 | FOXP3 | c.892T>A (p.Phe298Ile) c.997T>A (p.Phe333Ile) c.1066T>A (p.Phe356Ile) c.916T>A (p.Phe306Ile) c.967+744T>A (n.967+744T>A) c.847T>A (p.Phe283Ile) c.1216T>A (p.Phe406Ile) c.1015T>A (p.Phe339Ile) c.1252T>A (p.Phe418Ile) c.943T>A (p.Phe315Ile) | |
| X | g.49253174C>A | CA412950284 | FOXP3 | c.891G>T (p.Lys297Asn) c.996G>T (p.Lys332Asn) c.1065G>T (p.Lys355Asn) c.915G>T (p.Lys305Asn) c.967+743G>T (n.967+743G>T) c.846G>T (p.Lys282Asn) c.1215G>T (p.Lys405Asn) c.1014G>T (p.Lys338Asn) c.1251G>T (p.Lys417Asn) c.942G>T (p.Lys314Asn) | |
| X | g.49253174C>G | CA412950282 | FOXP3 | c.891G>C (p.Lys297Asn) c.996G>C (p.Lys332Asn) c.1065G>C (p.Lys355Asn) c.915G>C (p.Lys305Asn) c.967+743G>C (n.967+743G>C) c.846G>C (p.Lys282Asn) c.1215G>C (p.Lys405Asn) c.1014G>C (p.Lys338Asn) c.1251G>C (p.Lys417Asn) c.942G>C (p.Lys314Asn) | |
| X | g.49253174C>T | CA516395827 | FOXP3 | c.891G>A (p.Lys297=) c.996G>A (p.Lys332=) c.1065G>A (p.Lys355=) c.915G>A (p.Lys305=) c.967+743G>A (n.967+743G>A) c.846G>A (p.Lys282=) c.1215G>A (p.Lys405=) c.1014G>A (p.Lys338=) c.1251G>A (p.Lys417=) c.942G>A (p.Lys314=) | |
| X | g.49253174_49253175insA | CA2515603302 | FOXP3 | c.890_891insT (p.Lys297AsnfsTer31) c.995_996insT (p.Lys332AsnfsTer31) c.1064_1065insT (p.Lys355AsnfsTer31) c.914_915insT (p.Lys305AsnfsTer31) c.967+742_967+743insT (n.967+742_967+743insT) c.845_846insT (p.Lys282AsnfsTer31) c.1214_1215insT (p.Lys405AsnfsTer31) c.1013_1014insT (p.Lys338AsnfsTer31) c.1250_1251insT (p.Lys417AsnfsTer31) c.941_942insT (p.Lys314AsnfsTer31) | |
| X | g.49253175T>A | CA412950286 | FOXP3 | c.890A>T (p.Lys297Met) c.995A>T (p.Lys332Met) c.1064A>T (p.Lys355Met) c.914A>T (p.Lys305Met) c.967+742A>T (n.967+742A>T) c.845A>T (p.Lys282Met) c.1214A>T (p.Lys405Met) c.1013A>T (p.Lys338Met) c.1250A>T (p.Lys417Met) c.941A>T (p.Lys314Met) |