Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.49253155G>A | CA412950195 | FOXP3 | c.910C>T (p.Pro304Ser) c.1015C>T (p.Pro339Ser) c.1084C>T (p.Pro362Ser) c.934C>T (p.Pro312Ser) c.967+762C>T (n.967+762C>T) c.865C>T (p.Pro289Ser) c.1234C>T (p.Pro412Ser) c.1033C>T (p.Pro345Ser) c.1270C>T (p.Pro424Ser) c.961C>T (p.Pro321Ser) | |
X | g.49253155G>C | CA10604059 | FOXP3 | c.910C>G (p.Pro304Ala) c.1015C>G (p.Pro339Ala) c.1084C>G (p.Pro362Ala) c.934C>G (p.Pro312Ala) c.967+762C>G (n.967+762C>G) c.865C>G (p.Pro289Ala) c.1234C>G (p.Pro412Ala) c.1033C>G (p.Pro345Ala) c.1270C>G (p.Pro424Ala) c.961C>G (p.Pro321Ala) | ClinVar dbSNP |
X | g.49253155G= | CA2428551774 | FOXP3 | c.910C= (p.Pro304=) c.1015C= (p.Pro339=) c.1084C= (p.Pro362=) c.934C= (p.Pro312=) c.967+762C= (n.967+762C=) c.865C= (p.Pro289=) c.1234C= (p.Pro412=) c.1033C= (p.Pro345=) c.1270C= (p.Pro424=) c.961C= (p.Pro321=) | |
X | g.49253155G>T | CA412950193 | FOXP3 | c.910C>A (p.Pro304Thr) c.1015C>A (p.Pro339Thr) c.1084C>A (p.Pro362Thr) c.934C>A (p.Pro312Thr) c.967+762C>A (n.967+762C>A) c.865C>A (p.Pro289Thr) c.1234C>A (p.Pro412Thr) c.1033C>A (p.Pro345Thr) c.1270C>A (p.Pro424Thr) c.961C>A (p.Pro321Thr) | |
X | g.49253156G>A | CA516395759 | FOXP3 | c.909C>T (p.Pro303=) c.1014C>T (p.Pro338=) c.1083C>T (p.Pro361=) c.933C>T (p.Pro311=) c.967+761C>T (n.967+761C>T) c.864C>T (p.Pro288=) c.1233C>T (p.Pro411=) c.1032C>T (p.Pro344=) c.1269C>T (p.Pro423=) c.960C>T (p.Pro320=) | |
X | g.49253156G>C | CA516395760 | FOXP3 | c.909C>G (p.Pro303=) c.1014C>G (p.Pro338=) c.1083C>G (p.Pro361=) c.933C>G (p.Pro311=) c.967+761C>G (n.967+761C>G) c.864C>G (p.Pro288=) c.1233C>G (p.Pro411=) c.1032C>G (p.Pro344=) c.1269C>G (p.Pro423=) c.960C>G (p.Pro320=) | |
X | g.49253156G>T | CA516395762 | FOXP3 | c.909C>A (p.Pro303=) c.1014C>A (p.Pro338=) c.1083C>A (p.Pro361=) c.933C>A (p.Pro311=) c.967+761C>A (n.967+761C>A) c.864C>A (p.Pro288=) c.1233C>A (p.Pro411=) c.1032C>A (p.Pro344=) c.1269C>A (p.Pro423=) c.960C>A (p.Pro320=) | gnomAD v4 |
X | g.49253157G>A | CA412950202 | FOXP3 | c.908C>T (p.Pro303Leu) c.1013C>T (p.Pro338Leu) c.1082C>T (p.Pro361Leu) c.932C>T (p.Pro311Leu) c.967+760C>T (n.967+760C>T) c.863C>T (p.Pro288Leu) c.1232C>T (p.Pro411Leu) c.1031C>T (p.Pro344Leu) c.1268C>T (p.Pro423Leu) c.959C>T (p.Pro320Leu) | |
X | g.49253157G>C | CA412950199 | FOXP3 | c.908C>G (p.Pro303Arg) c.1013C>G (p.Pro338Arg) c.1082C>G (p.Pro361Arg) c.932C>G (p.Pro311Arg) c.967+760C>G (n.967+760C>G) c.863C>G (p.Pro288Arg) c.1232C>G (p.Pro411Arg) c.1031C>G (p.Pro344Arg) c.1268C>G (p.Pro423Arg) c.959C>G (p.Pro320Arg) | |
X | g.49253157G>T | CA412950200 | FOXP3 | c.908C>A (p.Pro303His) c.1013C>A (p.Pro338His) c.1082C>A (p.Pro361His) c.932C>A (p.Pro311His) c.967+760C>A (n.967+760C>A) c.863C>A (p.Pro288His) c.1232C>A (p.Pro411His) c.1031C>A (p.Pro344His) c.1268C>A (p.Pro423His) c.959C>A (p.Pro320His) | |
X | g.49253158G>A | CA412950204 | FOXP3 | c.907C>T (p.Pro303Ser) c.1012C>T (p.Pro338Ser) c.1081C>T (p.Pro361Ser) c.931C>T (p.Pro311Ser) c.967+759C>T (n.967+759C>T) c.862C>T (p.Pro288Ser) c.1231C>T (p.Pro411Ser) c.1030C>T (p.Pro344Ser) c.1267C>T (p.Pro423Ser) c.958C>T (p.Pro320Ser) | |
X | g.49253158G>C | CA412950206 | FOXP3 | c.907C>G (p.Pro303Ala) c.1012C>G (p.Pro338Ala) c.1081C>G (p.Pro361Ala) c.931C>G (p.Pro311Ala) c.967+759C>G (n.967+759C>G) c.862C>G (p.Pro288Ala) c.1231C>G (p.Pro411Ala) c.1030C>G (p.Pro344Ala) c.1267C>G (p.Pro423Ala) c.958C>G (p.Pro320Ala) | |
X | g.49253158G>T | CA412950208 | FOXP3 | c.907C>A (p.Pro303Thr) c.1012C>A (p.Pro338Thr) c.1081C>A (p.Pro361Thr) c.931C>A (p.Pro311Thr) c.967+759C>A (n.967+759C>A) c.862C>A (p.Pro288Thr) c.1231C>A (p.Pro411Thr) c.1030C>A (p.Pro344Thr) c.1267C>A (p.Pro423Thr) c.958C>A (p.Pro320Thr) | gnomAD v4 |
X | g.49253159T>A | CA516395770 | FOXP3 | c.906A>T (p.Arg302=) c.1011A>T (p.Arg337=) c.1080A>T (p.Arg360=) c.930A>T (p.Arg310=) c.967+758A>T (n.967+758A>T) c.861A>T (p.Arg287=) c.1230A>T (p.Arg410=) c.1029A>T (p.Arg343=) c.1266A>T (p.Arg422=) c.957A>T (p.Arg319=) | |
X | g.49253159T>C | CA516395773 | FOXP3 | c.906A>G (p.Arg302=) c.1011A>G (p.Arg337=) c.1080A>G (p.Arg360=) c.930A>G (p.Arg310=) c.967+758A>G (n.967+758A>G) c.861A>G (p.Arg287=) c.1230A>G (p.Arg410=) c.1029A>G (p.Arg343=) c.1266A>G (p.Arg422=) c.957A>G (p.Arg319=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49253159T>G | CA516395772 | FOXP3 | c.906A>C (p.Arg302=) c.1011A>C (p.Arg337=) c.1080A>C (p.Arg360=) c.930A>C (p.Arg310=) c.967+758A>C (n.967+758A>C) c.861A>C (p.Arg287=) c.1230A>C (p.Arg410=) c.1029A>C (p.Arg343=) c.1266A>C (p.Arg422=) c.957A>C (p.Arg319=) | |
X | g.49253159T= | CA2428551784 | FOXP3 | c.906A= (p.Arg302=) c.1011A= (p.Arg337=) c.1080A= (p.Arg360=) c.930A= (p.Arg310=) c.967+758A= (n.967+758A=) c.861A= (p.Arg287=) c.1230A= (p.Arg410=) c.1029A= (p.Arg343=) c.1266A= (p.Arg422=) c.957A= (p.Arg319=) | |
X | g.49253160C>A | CA412950210 | FOXP3 | c.905G>T (p.Arg302Leu) c.1010G>T (p.Arg337Leu) c.1079G>T (p.Arg360Leu) c.929G>T (p.Arg310Leu) c.967+757G>T (n.967+757G>T) c.860G>T (p.Arg287Leu) c.1229G>T (p.Arg410Leu) c.1028G>T (p.Arg343Leu) c.1265G>T (p.Arg422Leu) c.956G>T (p.Arg319Leu) | |
X | g.49253160C= | CA2428551790 | FOXP3 | c.905G= (p.Arg302=) c.1010G= (p.Arg337=) c.1079G= (p.Arg360=) c.929G= (p.Arg310=) c.967+757G= (n.967+757G=) c.860G= (p.Arg287=) c.1229G= (p.Arg410=) c.1028G= (p.Arg343=) c.1265G= (p.Arg422=) c.956G= (p.Arg319=) | |
X | g.49253160C>G | CA412950212 | FOXP3 | c.905G>C (p.Arg302Pro) c.1010G>C (p.Arg337Pro) c.1079G>C (p.Arg360Pro) c.929G>C (p.Arg310Pro) c.967+757G>C (n.967+757G>C) c.860G>C (p.Arg287Pro) c.1229G>C (p.Arg410Pro) c.1028G>C (p.Arg343Pro) c.1265G>C (p.Arg422Pro) c.956G>C (p.Arg319Pro) | |
X | g.49253160C>T | CA412950214 | FOXP3 | c.905G>A (p.Arg302Gln) c.1010G>A (p.Arg337Gln) c.1079G>A (p.Arg360Gln) c.929G>A (p.Arg310Gln) c.967+757G>A (n.967+757G>A) c.860G>A (p.Arg287Gln) c.1229G>A (p.Arg410Gln) c.1028G>A (p.Arg343Gln) c.1265G>A (p.Arg422Gln) c.956G>A (p.Arg319Gln) | ClinVar dbSNP COSMIC |
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) |