Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.49251635C>A | CA412948489 | FOXP3 | c.1041+29G>T (n.1041+29G>T) c.1146+29G>T (n.1146+29G>T) c.1215+29G>T (n.1215+29G>T) c.1065+29G>T (n.1065+29G>T) c.1070G>T (p.Gly357Val) c.*61+29G>T (n.*61+29G>T) c.1025G>T (p.Gly342Val) c.1394G>T (p.Gly465Val) c.1164+29G>T (n.1164+29G>T) c.1401+29G>T (n.1401+29G>T) c.1365+29G>T (n.1365+29G>T) c.1121G>T (p.Gly374Val) | |
X | g.49251635C= | CA2428551380 | FOXP3 | c.1041+29G= (n.1041+29G=) c.1146+29G= (n.1146+29G=) c.1215+29G= (n.1215+29G=) c.1065+29G= (n.1065+29G=) c.1070G= (p.Gly357=) c.*61+29G= (n.*61+29G=) c.1025G= (p.Gly342=) c.1394G= (p.Gly465=) c.1164+29G= (n.1164+29G=) c.1401+29G= (n.1401+29G=) c.1365+29G= (n.1365+29G=) c.1121G= (p.Gly374=) | |
X | g.49251635C>G | CA412948491 | FOXP3 | c.1041+29G>C (n.1041+29G>C) c.1146+29G>C (n.1146+29G>C) c.1215+29G>C (n.1215+29G>C) c.1065+29G>C (n.1065+29G>C) c.1070G>C (p.Gly357Ala) c.*61+29G>C (n.*61+29G>C) c.1025G>C (p.Gly342Ala) c.1394G>C (p.Gly465Ala) c.1164+29G>C (n.1164+29G>C) c.1401+29G>C (n.1401+29G>C) c.1365+29G>C (n.1365+29G>C) c.1121G>C (p.Gly374Ala) | |
X | g.49251635C>T | CA412948493 | FOXP3 | c.1041+29G>A (n.1041+29G>A) c.1146+29G>A (n.1146+29G>A) c.1215+29G>A (n.1215+29G>A) c.1065+29G>A (n.1065+29G>A) c.1070G>A (p.Gly357Glu) c.*61+29G>A (n.*61+29G>A) c.1025G>A (p.Gly342Glu) c.1394G>A (p.Gly465Glu) c.1164+29G>A (n.1164+29G>A) c.1401+29G>A (n.1401+29G>A) c.1365+29G>A (n.1365+29G>A) c.1121G>A (p.Gly374Glu) | dbSNP gnomAD v4 |
X | g.49251636C>A | CA412948495 | FOXP3 | c.1041+28G>T (n.1041+28G>T) c.1146+28G>T (n.1146+28G>T) c.1215+28G>T (n.1215+28G>T) c.1065+28G>T (n.1065+28G>T) c.1069G>T (p.Gly357Trp) c.*61+28G>T (n.*61+28G>T) c.1024G>T (p.Gly342Trp) c.1393G>T (p.Gly465Trp) c.1164+28G>T (n.1164+28G>T) c.1401+28G>T (n.1401+28G>T) c.1365+28G>T (n.1365+28G>T) c.1120G>T (p.Gly374Trp) | |
X | g.49251636C>G | CA412948497 | FOXP3 | c.1041+28G>C (n.1041+28G>C) c.1146+28G>C (n.1146+28G>C) c.1215+28G>C (n.1215+28G>C) c.1065+28G>C (n.1065+28G>C) c.1069G>C (p.Gly357Arg) c.*61+28G>C (n.*61+28G>C) c.1024G>C (p.Gly342Arg) c.1393G>C (p.Gly465Arg) c.1164+28G>C (n.1164+28G>C) c.1401+28G>C (n.1401+28G>C) c.1365+28G>C (n.1365+28G>C) c.1120G>C (p.Gly374Arg) | |
X | g.49251636C>T | CA412948499 | FOXP3 | c.1041+28G>A (n.1041+28G>A) c.1146+28G>A (n.1146+28G>A) c.1215+28G>A (n.1215+28G>A) c.1065+28G>A (n.1065+28G>A) c.1069G>A (p.Gly357Arg) c.*61+28G>A (n.*61+28G>A) c.1024G>A (p.Gly342Arg) c.1393G>A (p.Gly465Arg) c.1164+28G>A (n.1164+28G>A) c.1401+28G>A (n.1401+28G>A) c.1365+28G>A (n.1365+28G>A) c.1120G>A (p.Gly374Arg) | |
X | g.49251638G>A | CA412948504 | FOXP3 | c.1041+26C>T (n.1041+26C>T) c.1146+26C>T (n.1146+26C>T) c.1215+26C>T (n.1215+26C>T) c.1065+26C>T (n.1065+26C>T) c.1067C>T (p.Thr356Ile) c.*61+26C>T (n.*61+26C>T) c.1022C>T (p.Thr341Ile) c.1391C>T (p.Thr464Ile) c.1164+26C>T (n.1164+26C>T) c.1401+26C>T (n.1401+26C>T) c.1365+26C>T (n.1365+26C>T) c.1118C>T (p.Thr373Ile) | |
X | g.49251638G>C | CA412948501 | FOXP3 | c.1041+26C>G (n.1041+26C>G) c.1146+26C>G (n.1146+26C>G) c.1215+26C>G (n.1215+26C>G) c.1065+26C>G (n.1065+26C>G) c.1067C>G (p.Thr356Ser) c.*61+26C>G (n.*61+26C>G) c.1022C>G (p.Thr341Ser) c.1391C>G (p.Thr464Ser) c.1164+26C>G (n.1164+26C>G) c.1401+26C>G (n.1401+26C>G) c.1365+26C>G (n.1365+26C>G) c.1118C>G (p.Thr373Ser) | |
X | g.49251638G>T | CA412948502 | FOXP3 | c.1041+26C>A (n.1041+26C>A) c.1146+26C>A (n.1146+26C>A) c.1215+26C>A (n.1215+26C>A) c.1065+26C>A (n.1065+26C>A) c.1067C>A (p.Thr356Asn) c.*61+26C>A (n.*61+26C>A) c.1022C>A (p.Thr341Asn) c.1391C>A (p.Thr464Asn) c.1164+26C>A (n.1164+26C>A) c.1401+26C>A (n.1401+26C>A) c.1365+26C>A (n.1365+26C>A) c.1118C>A (p.Thr373Asn) | |
X | g.49251639T>A | CA10411657 | FOXP3 | c.1041+25A>T (n.1041+25A>T) c.1146+25A>T (n.1146+25A>T) c.1215+25A>T (n.1215+25A>T) c.1065+25A>T (n.1065+25A>T) c.1066A>T (p.Thr356Ser) c.*61+25A>T (n.*61+25A>T) c.1021A>T (p.Thr341Ser) c.1390A>T (p.Thr464Ser) c.1164+25A>T (n.1164+25A>T) c.1401+25A>T (n.1401+25A>T) c.1365+25A>T (n.1365+25A>T) c.1117A>T (p.Thr373Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49251639T>C | CA412948507 | FOXP3 | c.1041+25A>G (n.1041+25A>G) c.1146+25A>G (n.1146+25A>G) c.1215+25A>G (n.1215+25A>G) c.1065+25A>G (n.1065+25A>G) c.1066A>G (p.Thr356Ala) c.*61+25A>G (n.*61+25A>G) c.1021A>G (p.Thr341Ala) c.1390A>G (p.Thr464Ala) c.1164+25A>G (n.1164+25A>G) c.1401+25A>G (n.1401+25A>G) c.1365+25A>G (n.1365+25A>G) c.1117A>G (p.Thr373Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49251639T>G | CA412948509 | FOXP3 | c.1041+25A>C (n.1041+25A>C) c.1146+25A>C (n.1146+25A>C) c.1215+25A>C (n.1215+25A>C) c.1065+25A>C (n.1065+25A>C) c.1066A>C (p.Thr356Pro) c.*61+25A>C (n.*61+25A>C) c.1021A>C (p.Thr341Pro) c.1390A>C (p.Thr464Pro) c.1164+25A>C (n.1164+25A>C) c.1401+25A>C (n.1401+25A>C) c.1365+25A>C (n.1365+25A>C) c.1117A>C (p.Thr373Pro) | |
X | g.49251639T= | CA2428551381 | FOXP3 | c.1041+25A= (n.1041+25A=) c.1146+25A= (n.1146+25A=) c.1215+25A= (n.1215+25A=) c.1065+25A= (n.1065+25A=) c.1066A= (p.Thr356=) c.*61+25A= (n.*61+25A=) c.1021A= (p.Thr341=) c.1390A= (p.Thr464=) c.1164+25A= (n.1164+25A=) c.1401+25A= (n.1401+25A=) c.1365+25A= (n.1365+25A=) c.1117A= (p.Thr373=) | |
X | g.49251640C= | CA2428551382 | FOXP3 | c.1041+24G= (n.1041+24G=) c.1146+24G= (n.1146+24G=) c.1215+24G= (n.1215+24G=) c.1065+24G= (n.1065+24G=) c.1065G= (p.Val355=) c.*61+24G= (n.*61+24G=) c.1020G= (p.Val340=) c.1389G= (p.Val463=) c.1164+24G= (n.1164+24G=) c.1401+24G= (n.1401+24G=) c.1365+24G= (n.1365+24G=) c.1116G= (p.Val372=) | |
X | g.49251640C>G | CA641903132 | FOXP3 | c.1041+24G>C (n.1041+24G>C) c.1146+24G>C (n.1146+24G>C) c.1215+24G>C (n.1215+24G>C) c.1065+24G>C (n.1065+24G>C) c.1065G>C (p.Val355=) c.*61+24G>C (n.*61+24G>C) c.1020G>C (p.Val340=) c.1389G>C (p.Val463=) c.1164+24G>C (n.1164+24G>C) c.1401+24G>C (n.1401+24G>C) c.1365+24G>C (n.1365+24G>C) c.1116G>C (p.Val372=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49251641A>C | CA412948512 | FOXP3 | c.1041+23T>G (n.1041+23T>G) c.1146+23T>G (n.1146+23T>G) c.1215+23T>G (n.1215+23T>G) c.1065+23T>G (n.1065+23T>G) c.1064T>G (p.Val355Gly) c.*61+23T>G (n.*61+23T>G) c.1019T>G (p.Val340Gly) c.1388T>G (p.Val463Gly) c.1164+23T>G (n.1164+23T>G) c.1401+23T>G (n.1401+23T>G) c.1365+23T>G (n.1365+23T>G) c.1115T>G (p.Val372Gly) | |
X | g.49251641A>G | CA412948513 | FOXP3 | c.1041+23T>C (n.1041+23T>C) c.1146+23T>C (n.1146+23T>C) c.1215+23T>C (n.1215+23T>C) c.1065+23T>C (n.1065+23T>C) c.1064T>C (p.Val355Ala) c.*61+23T>C (n.*61+23T>C) c.1019T>C (p.Val340Ala) c.1388T>C (p.Val463Ala) c.1164+23T>C (n.1164+23T>C) c.1401+23T>C (n.1401+23T>C) c.1365+23T>C (n.1365+23T>C) c.1115T>C (p.Val372Ala) | |
X | g.49251641A>T | CA412948515 | FOXP3 | c.1041+23T>A (n.1041+23T>A) c.1146+23T>A (n.1146+23T>A) c.1215+23T>A (n.1215+23T>A) c.1065+23T>A (n.1065+23T>A) c.1064T>A (p.Val355Glu) c.*61+23T>A (n.*61+23T>A) c.1019T>A (p.Val340Glu) c.1388T>A (p.Val463Glu) c.1164+23T>A (n.1164+23T>A) c.1401+23T>A (n.1401+23T>A) c.1365+23T>A (n.1365+23T>A) c.1115T>A (p.Val372Glu) | |
X | g.49251642C>A | CA412948517 | FOXP3 | c.1041+22G>T (n.1041+22G>T) c.1146+22G>T (n.1146+22G>T) c.1215+22G>T (n.1215+22G>T) c.1065+22G>T (n.1065+22G>T) c.1063G>T (p.Val355Leu) c.*61+22G>T (n.*61+22G>T) c.1018G>T (p.Val340Leu) c.1387G>T (p.Val463Leu) c.1164+22G>T (n.1164+22G>T) c.1401+22G>T (n.1401+22G>T) c.1365+22G>T (n.1365+22G>T) c.1114G>T (p.Val372Leu) | |
X | g.49251642C>G | CA412948519 | FOXP3 | c.1041+22G>C (n.1041+22G>C) c.1146+22G>C (n.1146+22G>C) c.1215+22G>C (n.1215+22G>C) c.1065+22G>C (n.1065+22G>C) c.1063G>C (p.Val355Leu) c.*61+22G>C (n.*61+22G>C) c.1018G>C (p.Val340Leu) c.1387G>C (p.Val463Leu) c.1164+22G>C (n.1164+22G>C) c.1401+22G>C (n.1401+22G>C) c.1365+22G>C (n.1365+22G>C) c.1114G>C (p.Val372Leu) | |
X | g.49251642C>T | CA412948521 | FOXP3 | c.1041+22G>A (n.1041+22G>A) c.1146+22G>A (n.1146+22G>A) c.1215+22G>A (n.1215+22G>A) c.1065+22G>A (n.1065+22G>A) c.1063G>A (p.Val355Met) c.*61+22G>A (n.*61+22G>A) c.1018G>A (p.Val340Met) c.1387G>A (p.Val463Met) c.1164+22G>A (n.1164+22G>A) c.1401+22G>A (n.1401+22G>A) c.1365+22G>A (n.1365+22G>A) c.1114G>A (p.Val372Met) | |
X | g.49251643C= | CA2428551383 | FOXP3 | c.1041+21G= (n.1041+21G=) c.1146+21G= (n.1146+21G=) c.1215+21G= (n.1215+21G=) c.1065+21G= (n.1065+21G=) c.1062G= (p.Ala354=) c.*61+21G= (n.*61+21G=) c.1017G= (p.Ala339=) c.1386G= (p.Ala462=) c.1164+21G= (n.1164+21G=) c.1401+21G= (n.1401+21G=) c.1365+21G= (n.1365+21G=) c.1113G= (p.Ala371=) | |
X | g.49251643C>T | CA10411658 | FOXP3 | c.1041+21G>A (n.1041+21G>A) c.1146+21G>A (n.1146+21G>A) c.1215+21G>A (n.1215+21G>A) c.1065+21G>A (n.1065+21G>A) c.1062G>A (p.Ala354=) c.*61+21G>A (n.*61+21G>A) c.1017G>A (p.Ala339=) c.1386G>A (p.Ala462=) c.1164+21G>A (n.1164+21G>A) c.1401+21G>A (n.1401+21G>A) c.1365+21G>A (n.1365+21G>A) c.1113G>A (p.Ala371=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49251644G>A | CA10411659 | FOXP3 | c.1041+20C>T (n.1041+20C>T) c.1146+20C>T (n.1146+20C>T) c.1215+20C>T (n.1215+20C>T) c.1065+20C>T (n.1065+20C>T) c.1061C>T (p.Ala354Val) c.*61+20C>T (n.*61+20C>T) c.1016C>T (p.Ala339Val) c.1385C>T (p.Ala462Val) c.1164+20C>T (n.1164+20C>T) c.1401+20C>T (n.1401+20C>T) c.1365+20C>T (n.1365+20C>T) c.1112C>T (p.Ala371Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.49251644G>C | CA412948526 | FOXP3 | c.1041+20C>G (n.1041+20C>G) c.1146+20C>G (n.1146+20C>G) c.1215+20C>G (n.1215+20C>G) c.1065+20C>G (n.1065+20C>G) c.1061C>G (p.Ala354Gly) c.*61+20C>G (n.*61+20C>G) c.1016C>G (p.Ala339Gly) c.1385C>G (p.Ala462Gly) c.1164+20C>G (n.1164+20C>G) c.1401+20C>G (n.1401+20C>G) c.1365+20C>G (n.1365+20C>G) c.1112C>G (p.Ala371Gly) | |
X | g.49251644G= | CA2428551384 | FOXP3 | c.1041+20C= (n.1041+20C=) c.1146+20C= (n.1146+20C=) c.1215+20C= (n.1215+20C=) c.1065+20C= (n.1065+20C=) c.1061C= (p.Ala354=) c.*61+20C= (n.*61+20C=) c.1016C= (p.Ala339=) c.1385C= (p.Ala462=) c.1164+20C= (n.1164+20C=) c.1401+20C= (n.1401+20C=) c.1365+20C= (n.1365+20C=) c.1112C= (p.Ala371=) | |
X | g.49251644G>T | CA412948528 | FOXP3 | c.1041+20C>A (n.1041+20C>A) c.1146+20C>A (n.1146+20C>A) c.1215+20C>A (n.1215+20C>A) c.1065+20C>A (n.1065+20C>A) c.1061C>A (p.Ala354Glu) c.*61+20C>A (n.*61+20C>A) c.1016C>A (p.Ala339Glu) c.1385C>A (p.Ala462Glu) c.1164+20C>A (n.1164+20C>A) c.1401+20C>A (n.1401+20C>A) c.1365+20C>A (n.1365+20C>A) c.1112C>A (p.Ala371Glu) | |
X | g.49251645C>A | CA412948530 | FOXP3 | c.1041+19G>T (n.1041+19G>T) c.1146+19G>T (n.1146+19G>T) c.1215+19G>T (n.1215+19G>T) c.1065+19G>T (n.1065+19G>T) c.1060G>T (p.Ala354Ser) c.*61+19G>T (n.*61+19G>T) c.1015G>T (p.Ala339Ser) c.1384G>T (p.Ala462Ser) c.1164+19G>T (n.1164+19G>T) c.1401+19G>T (n.1401+19G>T) c.1365+19G>T (n.1365+19G>T) c.1111G>T (p.Ala371Ser) | dbSNP |
X | g.49251645C>G | CA412948532 | FOXP3 | c.1041+19G>C (n.1041+19G>C) c.1146+19G>C (n.1146+19G>C) c.1215+19G>C (n.1215+19G>C) c.1065+19G>C (n.1065+19G>C) c.1060G>C (p.Ala354Pro) c.*61+19G>C (n.*61+19G>C) c.1015G>C (p.Ala339Pro) c.1384G>C (p.Ala462Pro) c.1164+19G>C (n.1164+19G>C) c.1401+19G>C (n.1401+19G>C) c.1365+19G>C (n.1365+19G>C) c.1111G>C (p.Ala371Pro) | |
X | g.49251645C>T | CA412948531 | FOXP3 | c.1041+19G>A (n.1041+19G>A) c.1146+19G>A (n.1146+19G>A) c.1215+19G>A (n.1215+19G>A) c.1065+19G>A (n.1065+19G>A) c.1060G>A (p.Ala354Thr) c.*61+19G>A (n.*61+19G>A) c.1015G>A (p.Ala339Thr) c.1384G>A (p.Ala462Thr) c.1164+19G>A (n.1164+19G>A) c.1401+19G>A (n.1401+19G>A) c.1365+19G>A (n.1365+19G>A) c.1111G>A (p.Ala371Thr) | |
X | g.49251647A= | CA2428551385 | FOXP3 | c.1041+17T= (n.1041+17T=) c.1146+17T= (n.1146+17T=) c.1215+17T= (n.1215+17T=) c.1065+17T= (n.1065+17T=) c.1058T= (p.Val353=) c.*61+17T= (n.*61+17T=) c.1013T= (p.Val338=) c.1382T= (p.Val461=) c.1164+17T= (n.1164+17T=) c.1401+17T= (n.1401+17T=) c.1365+17T= (n.1365+17T=) c.1109T= (p.Val370=) | |
X | g.49251647A>C | CA412948534 | FOXP3 | c.1041+17T>G (n.1041+17T>G) c.1146+17T>G (n.1146+17T>G) c.1215+17T>G (n.1215+17T>G) c.1065+17T>G (n.1065+17T>G) c.1058T>G (p.Val353Gly) c.*61+17T>G (n.*61+17T>G) c.1013T>G (p.Val338Gly) c.1382T>G (p.Val461Gly) c.1164+17T>G (n.1164+17T>G) c.1401+17T>G (n.1401+17T>G) c.1365+17T>G (n.1365+17T>G) c.1109T>G (p.Val370Gly) | |
X | g.49251647A>G | CA10411660 | FOXP3 | c.1041+17T>C (n.1041+17T>C) c.1146+17T>C (n.1146+17T>C) c.1215+17T>C (n.1215+17T>C) c.1065+17T>C (n.1065+17T>C) c.1058T>C (p.Val353Ala) c.*61+17T>C (n.*61+17T>C) c.1013T>C (p.Val338Ala) c.1382T>C (p.Val461Ala) c.1164+17T>C (n.1164+17T>C) c.1401+17T>C (n.1401+17T>C) c.1365+17T>C (n.1365+17T>C) c.1109T>C (p.Val370Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49251647A>T | CA412948536 | FOXP3 | c.1041+17T>A (n.1041+17T>A) c.1146+17T>A (n.1146+17T>A) c.1215+17T>A (n.1215+17T>A) c.1065+17T>A (n.1065+17T>A) c.1058T>A (p.Val353Glu) c.*61+17T>A (n.*61+17T>A) c.1013T>A (p.Val338Glu) c.1382T>A (p.Val461Glu) c.1164+17T>A (n.1164+17T>A) c.1401+17T>A (n.1401+17T>A) c.1365+17T>A (n.1365+17T>A) c.1109T>A (p.Val370Glu) | |
X | g.49251648C>A | CA412948537 | FOXP3 | c.1041+16G>T (n.1041+16G>T) c.1146+16G>T (n.1146+16G>T) c.1215+16G>T (n.1215+16G>T) c.1065+16G>T (n.1065+16G>T) c.1057G>T (p.Val353Leu) c.*61+16G>T (n.*61+16G>T) c.1012G>T (p.Val338Leu) c.1381G>T (p.Val461Leu) c.1164+16G>T (n.1164+16G>T) c.1401+16G>T (n.1401+16G>T) c.1365+16G>T (n.1365+16G>T) c.1108G>T (p.Val370Leu) | |
X | g.49251648C= | CA2428551386 | FOXP3 | c.1041+16G= (n.1041+16G=) c.1146+16G= (n.1146+16G=) c.1215+16G= (n.1215+16G=) c.1065+16G= (n.1065+16G=) c.1057G= (p.Val353=) c.*61+16G= (n.*61+16G=) c.1012G= (p.Val338=) c.1381G= (p.Val461=) c.1164+16G= (n.1164+16G=) c.1401+16G= (n.1401+16G=) c.1365+16G= (n.1365+16G=) c.1108G= (p.Val370=) | |
X | g.49251648C>G | CA412948538 | FOXP3 | c.1041+16G>C (n.1041+16G>C) c.1146+16G>C (n.1146+16G>C) c.1215+16G>C (n.1215+16G>C) c.1065+16G>C (n.1065+16G>C) c.1057G>C (p.Val353Leu) c.*61+16G>C (n.*61+16G>C) c.1012G>C (p.Val338Leu) c.1381G>C (p.Val461Leu) c.1164+16G>C (n.1164+16G>C) c.1401+16G>C (n.1401+16G>C) c.1365+16G>C (n.1365+16G>C) c.1108G>C (p.Val370Leu) | ClinVar dbSNP |
X | g.49251648C>T | CA412948539 | FOXP3 | c.1041+16G>A (n.1041+16G>A) c.1146+16G>A (n.1146+16G>A) c.1215+16G>A (n.1215+16G>A) c.1065+16G>A (n.1065+16G>A) c.1057G>A (p.Val353Met) c.*61+16G>A (n.*61+16G>A) c.1012G>A (p.Val338Met) c.1381G>A (p.Val461Met) c.1164+16G>A (n.1164+16G>A) c.1401+16G>A (n.1401+16G>A) c.1365+16G>A (n.1365+16G>A) c.1108G>A (p.Val370Met) | |
X | g.49251649C>A | CA412948540 | FOXP3 | c.1041+15G>T (n.1041+15G>T) c.1146+15G>T (n.1146+15G>T) c.1215+15G>T (n.1215+15G>T) c.1065+15G>T (n.1065+15G>T) c.1056G>T (p.Glu352Asp) c.*61+15G>T (n.*61+15G>T) c.1011G>T (p.Glu337Asp) c.1380G>T (p.Glu460Asp) c.1164+15G>T (n.1164+15G>T) c.1401+15G>T (n.1401+15G>T) c.1365+15G>T (n.1365+15G>T) c.1107G>T (p.Glu369Asp) | |
X | g.49251649C>G | CA412948542 | FOXP3 | c.1041+15G>C (n.1041+15G>C) c.1146+15G>C (n.1146+15G>C) c.1215+15G>C (n.1215+15G>C) c.1065+15G>C (n.1065+15G>C) c.1056G>C (p.Glu352Asp) c.*61+15G>C (n.*61+15G>C) c.1011G>C (p.Glu337Asp) c.1380G>C (p.Glu460Asp) c.1164+15G>C (n.1164+15G>C) c.1401+15G>C (n.1401+15G>C) c.1365+15G>C (n.1365+15G>C) c.1107G>C (p.Glu369Asp) | |
X | g.49251650_49251651dup | CA875957397 | FOXP3 | c.1041+14_1041+15dup (n.1041+14_1041+15dup) c.1146+14_1146+15dup (n.1146+14_1146+15dup) c.1215+14_1215+15dup (n.1215+14_1215+15dup) c.1065+14_1065+15dup (n.1065+14_1065+15dup) c.1055_1056dup (p.Val353ArgfsTer4) c.*61+14_*61+15dup (n.*61+14_*61+15dup) c.1010_1011dup (p.Val338ArgfsTer4) c.1379_1380dup (p.Val461ArgfsTer4) c.1164+14_1164+15dup (n.1164+14_1164+15dup) c.1401+14_1401+15dup (n.1401+14_1401+15dup) c.1365+14_1365+15dup (n.1365+14_1365+15dup) c.1106_1107dup (p.Val370ArgfsTer4) | dbSNP |
X | g.49251650T>A | CA412948543 | FOXP3 | c.1041+14A>T (n.1041+14A>T) c.1146+14A>T (n.1146+14A>T) c.1215+14A>T (n.1215+14A>T) c.1065+14A>T (n.1065+14A>T) c.1055A>T (p.Glu352Val) c.*61+14A>T (n.*61+14A>T) c.1010A>T (p.Glu337Val) c.1379A>T (p.Glu460Val) c.1164+14A>T (n.1164+14A>T) c.1401+14A>T (n.1401+14A>T) c.1365+14A>T (n.1365+14A>T) c.1106A>T (p.Glu369Val) | |
X | g.49251650T>C | CA412948544 | FOXP3 | c.1041+14A>G (n.1041+14A>G) c.1146+14A>G (n.1146+14A>G) c.1215+14A>G (n.1215+14A>G) c.1065+14A>G (n.1065+14A>G) c.1055A>G (p.Glu352Gly) c.*61+14A>G (n.*61+14A>G) c.1010A>G (p.Glu337Gly) c.1379A>G (p.Glu460Gly) c.1164+14A>G (n.1164+14A>G) c.1401+14A>G (n.1401+14A>G) c.1365+14A>G (n.1365+14A>G) c.1106A>G (p.Glu369Gly) | |
X | g.49251650T>G | CA412948547 | FOXP3 | c.1041+14A>C (n.1041+14A>C) c.1146+14A>C (n.1146+14A>C) c.1215+14A>C (n.1215+14A>C) c.1065+14A>C (n.1065+14A>C) c.1055A>C (p.Glu352Ala) c.*61+14A>C (n.*61+14A>C) c.1010A>C (p.Glu337Ala) c.1379A>C (p.Glu460Ala) c.1164+14A>C (n.1164+14A>C) c.1401+14A>C (n.1401+14A>C) c.1365+14A>C (n.1365+14A>C) c.1106A>C (p.Glu369Ala) | |
X | g.49251651C>A | CA412948553 | FOXP3 | c.1041+13G>T (n.1041+13G>T) c.1146+13G>T (n.1146+13G>T) c.1215+13G>T (n.1215+13G>T) c.1065+13G>T (n.1065+13G>T) c.1054G>T (p.Glu352Ter) c.*61+13G>T (n.*61+13G>T) c.1009G>T (p.Glu337Ter) c.1378G>T (p.Glu460Ter) c.1164+13G>T (n.1164+13G>T) c.1401+13G>T (n.1401+13G>T) c.1365+13G>T (n.1365+13G>T) c.1105G>T (p.Glu369Ter) | |
X | g.49251651C>G | CA412948552 | FOXP3 | c.1041+13G>C (n.1041+13G>C) c.1146+13G>C (n.1146+13G>C) c.1215+13G>C (n.1215+13G>C) c.1065+13G>C (n.1065+13G>C) c.1054G>C (p.Glu352Gln) c.*61+13G>C (n.*61+13G>C) c.1009G>C (p.Glu337Gln) c.1378G>C (p.Glu460Gln) c.1164+13G>C (n.1164+13G>C) c.1401+13G>C (n.1401+13G>C) c.1365+13G>C (n.1365+13G>C) c.1105G>C (p.Glu369Gln) | |
X | g.49251651C>T | CA412948550 | FOXP3 | c.1041+13G>A (n.1041+13G>A) c.1146+13G>A (n.1146+13G>A) c.1215+13G>A (n.1215+13G>A) c.1065+13G>A (n.1065+13G>A) c.1054G>A (p.Glu352Lys) c.*61+13G>A (n.*61+13G>A) c.1009G>A (p.Glu337Lys) c.1378G>A (p.Glu460Lys) c.1164+13G>A (n.1164+13G>A) c.1401+13G>A (n.1401+13G>A) c.1365+13G>A (n.1365+13G>A) c.1105G>A (p.Glu369Lys) | |
X | g.49251652A>G | CA2693718096 | FOXP3 | c.1041+12T>C (n.1041+12T>C) c.1146+12T>C (n.1146+12T>C) c.1215+12T>C (n.1215+12T>C) c.1065+12T>C (n.1065+12T>C) c.1053T>C (p.Ser351=) c.*61+12T>C (n.*61+12T>C) c.1008T>C (p.Ser336=) c.1377T>C (p.Ser459=) c.1164+12T>C (n.1164+12T>C) c.1401+12T>C (n.1401+12T>C) c.1365+12T>C (n.1365+12T>C) c.1104T>C (p.Ser368=) | gnomAD v4 |
X | g.49251653G>A | CA412948555 | FOXP3 | c.1041+11C>T (n.1041+11C>T) c.1146+11C>T (n.1146+11C>T) c.1215+11C>T (n.1215+11C>T) c.1065+11C>T (n.1065+11C>T) c.1052C>T (p.Ser351Phe) c.*61+11C>T (n.*61+11C>T) c.1007C>T (p.Ser336Phe) c.1376C>T (p.Ser459Phe) c.1164+11C>T (n.1164+11C>T) c.1401+11C>T (n.1401+11C>T) c.1365+11C>T (n.1365+11C>T) c.1103C>T (p.Ser368Phe) | |
X | g.49251653G>C | CA412948557 | FOXP3 | c.1041+11C>G (n.1041+11C>G) c.1146+11C>G (n.1146+11C>G) c.1215+11C>G (n.1215+11C>G) c.1065+11C>G (n.1065+11C>G) c.1052C>G (p.Ser351Cys) c.*61+11C>G (n.*61+11C>G) c.1007C>G (p.Ser336Cys) c.1376C>G (p.Ser459Cys) c.1164+11C>G (n.1164+11C>G) c.1401+11C>G (n.1401+11C>G) c.1365+11C>G (n.1365+11C>G) c.1103C>G (p.Ser368Cys) | |
X | g.49251653G>T | CA412948559 | FOXP3 | c.1041+11C>A (n.1041+11C>A) c.1146+11C>A (n.1146+11C>A) c.1215+11C>A (n.1215+11C>A) c.1065+11C>A (n.1065+11C>A) c.1052C>A (p.Ser351Tyr) c.*61+11C>A (n.*61+11C>A) c.1007C>A (p.Ser336Tyr) c.1376C>A (p.Ser459Tyr) c.1164+11C>A (n.1164+11C>A) c.1401+11C>A (n.1401+11C>A) c.1365+11C>A (n.1365+11C>A) c.1103C>A (p.Ser368Tyr) | |
X | g.49251654A>C | CA412948560 | FOXP3 | c.1041+10T>G (n.1041+10T>G) c.1146+10T>G (n.1146+10T>G) c.1215+10T>G (n.1215+10T>G) c.1065+10T>G (n.1065+10T>G) c.1051T>G (p.Ser351Ala) c.*61+10T>G (n.*61+10T>G) c.1006T>G (p.Ser336Ala) c.1375T>G (p.Ser459Ala) c.1164+10T>G (n.1164+10T>G) c.1401+10T>G (n.1401+10T>G) c.1365+10T>G (n.1365+10T>G) c.1102T>G (p.Ser368Ala) | |
X | g.49251654A>G | CA412948562 | FOXP3 | c.1041+10T>C (n.1041+10T>C) c.1146+10T>C (n.1146+10T>C) c.1215+10T>C (n.1215+10T>C) c.1065+10T>C (n.1065+10T>C) c.1051T>C (p.Ser351Pro) c.*61+10T>C (n.*61+10T>C) c.1006T>C (p.Ser336Pro) c.1375T>C (p.Ser459Pro) c.1164+10T>C (n.1164+10T>C) c.1401+10T>C (n.1401+10T>C) c.1365+10T>C (n.1365+10T>C) c.1102T>C (p.Ser368Pro) | |
X | g.49251654A>T | CA412948564 | FOXP3 | c.1041+10T>A (n.1041+10T>A) c.1146+10T>A (n.1146+10T>A) c.1215+10T>A (n.1215+10T>A) c.1065+10T>A (n.1065+10T>A) c.1051T>A (p.Ser351Thr) c.*61+10T>A (n.*61+10T>A) c.1006T>A (p.Ser336Thr) c.1375T>A (p.Ser459Thr) c.1164+10T>A (n.1164+10T>A) c.1401+10T>A (n.1401+10T>A) c.1365+10T>A (n.1365+10T>A) c.1102T>A (p.Ser368Thr) | |
X | g.49251655G>C | CA10411661 | FOXP3 | c.1041+9C>G (n.1041+9C>G) c.1146+9C>G (n.1146+9C>G) c.1215+9C>G (n.1215+9C>G) c.1065+9C>G (n.1065+9C>G) c.1050C>G (p.Ser350=) c.*61+9C>G (n.*61+9C>G) c.1005C>G (p.Ser335=) c.1374C>G (p.Ser458=) c.1164+9C>G (n.1164+9C>G) c.1401+9C>G (n.1401+9C>G) c.1365+9C>G (n.1365+9C>G) c.1101C>G (p.Ser367=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49251655G= | CA2428551387 | FOXP3 | c.1041+9C= (n.1041+9C=) c.1146+9C= (n.1146+9C=) c.1215+9C= (n.1215+9C=) c.1065+9C= (n.1065+9C=) c.1050C= (p.Ser350=) c.*61+9C= (n.*61+9C=) c.1005C= (p.Ser335=) c.1374C= (p.Ser458=) c.1164+9C= (n.1164+9C=) c.1401+9C= (n.1401+9C=) c.1365+9C= (n.1365+9C=) c.1101C= (p.Ser367=) | |
X | g.49251656G>A | CA412948565 | FOXP3 | c.1041+8C>T (n.1041+8C>T) c.1146+8C>T (n.1146+8C>T) c.1215+8C>T (n.1215+8C>T) c.1065+8C>T (n.1065+8C>T) c.1049C>T (p.Ser350Phe) c.*61+8C>T (n.*61+8C>T) c.1004C>T (p.Ser335Phe) c.1373C>T (p.Ser458Phe) c.1164+8C>T (n.1164+8C>T) c.1401+8C>T (n.1401+8C>T) c.1365+8C>T (n.1365+8C>T) c.1100C>T (p.Ser367Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49251656G>C | CA412948566 | FOXP3 | c.1041+8C>G (n.1041+8C>G) c.1146+8C>G (n.1146+8C>G) c.1215+8C>G (n.1215+8C>G) c.1065+8C>G (n.1065+8C>G) c.1049C>G (p.Ser350Cys) c.*61+8C>G (n.*61+8C>G) c.1004C>G (p.Ser335Cys) c.1373C>G (p.Ser458Cys) c.1164+8C>G (n.1164+8C>G) c.1401+8C>G (n.1401+8C>G) c.1365+8C>G (n.1365+8C>G) c.1100C>G (p.Ser367Cys) | |
X | g.49251656G= | CA2428551388 | FOXP3 | c.1041+8C= (n.1041+8C=) c.1146+8C= (n.1146+8C=) c.1215+8C= (n.1215+8C=) c.1065+8C= (n.1065+8C=) c.1049C= (p.Ser350=) c.*61+8C= (n.*61+8C=) c.1004C= (p.Ser335=) c.1373C= (p.Ser458=) c.1164+8C= (n.1164+8C=) c.1401+8C= (n.1401+8C=) c.1365+8C= (n.1365+8C=) c.1100C= (p.Ser367=) | |
X | g.49251656G>T | CA412948569 | FOXP3 | c.1041+8C>A (n.1041+8C>A) c.1146+8C>A (n.1146+8C>A) c.1215+8C>A (n.1215+8C>A) c.1065+8C>A (n.1065+8C>A) c.1049C>A (p.Ser350Tyr) c.*61+8C>A (n.*61+8C>A) c.1004C>A (p.Ser335Tyr) c.1373C>A (p.Ser458Tyr) c.1164+8C>A (n.1164+8C>A) c.1401+8C>A (n.1401+8C>A) c.1365+8C>A (n.1365+8C>A) c.1100C>A (p.Ser367Tyr) | |
X | g.49251657A>C | CA412948570 | FOXP3 | c.1041+7T>G (n.1041+7T>G) c.1146+7T>G (n.1146+7T>G) c.1215+7T>G (n.1215+7T>G) c.1065+7T>G (n.1065+7T>G) c.1048T>G (p.Ser350Ala) c.*61+7T>G (n.*61+7T>G) c.1003T>G (p.Ser335Ala) c.1372T>G (p.Ser458Ala) c.1164+7T>G (n.1164+7T>G) c.1401+7T>G (n.1401+7T>G) c.1365+7T>G (n.1365+7T>G) c.1099T>G (p.Ser367Ala) | |
X | g.49251657A>G | CA412948572 | FOXP3 | c.1041+7T>C (n.1041+7T>C) c.1146+7T>C (n.1146+7T>C) c.1215+7T>C (n.1215+7T>C) c.1065+7T>C (n.1065+7T>C) c.1048T>C (p.Ser350Pro) c.*61+7T>C (n.*61+7T>C) c.1003T>C (p.Ser335Pro) c.1372T>C (p.Ser458Pro) c.1164+7T>C (n.1164+7T>C) c.1401+7T>C (n.1401+7T>C) c.1365+7T>C (n.1365+7T>C) c.1099T>C (p.Ser367Pro) | |
X | g.49251657A>T | CA412948574 | FOXP3 | c.1041+7T>A (n.1041+7T>A) c.1146+7T>A (n.1146+7T>A) c.1215+7T>A (n.1215+7T>A) c.1065+7T>A (n.1065+7T>A) c.1048T>A (p.Ser350Thr) c.*61+7T>A (n.*61+7T>A) c.1003T>A (p.Ser335Thr) c.1372T>A (p.Ser458Thr) c.1164+7T>A (n.1164+7T>A) c.1401+7T>A (n.1401+7T>A) c.1365+7T>A (n.1365+7T>A) c.1099T>A (p.Ser367Thr) | |
X | g.49251658G>C | CA412948577 | FOXP3 | c.1041+6C>G (n.1041+6C>G) c.1146+6C>G (n.1146+6C>G) c.1215+6C>G (n.1215+6C>G) c.1065+6C>G (n.1065+6C>G) c.1047C>G (p.Ser349Arg) c.*61+6C>G (n.*61+6C>G) c.1002C>G (p.Ser334Arg) c.1371C>G (p.Ser457Arg) c.1164+6C>G (n.1164+6C>G) c.1401+6C>G (n.1401+6C>G) c.1365+6C>G (n.1365+6C>G) c.1098C>G (p.Ser366Arg) | |
X | g.49251658G>T | CA412948576 | FOXP3 | c.1041+6C>A (n.1041+6C>A) c.1146+6C>A (n.1146+6C>A) c.1215+6C>A (n.1215+6C>A) c.1065+6C>A (n.1065+6C>A) c.1047C>A (p.Ser349Arg) c.*61+6C>A (n.*61+6C>A) c.1002C>A (p.Ser334Arg) c.1371C>A (p.Ser457Arg) c.1164+6C>A (n.1164+6C>A) c.1401+6C>A (n.1401+6C>A) c.1365+6C>A (n.1365+6C>A) c.1098C>A (p.Ser366Arg) | gnomAD v4 |
X | g.49251659C>A | CA412948580 | FOXP3 | c.1041+5G>T (n.1041+5G>T) c.1146+5G>T (n.1146+5G>T) c.1215+5G>T (n.1215+5G>T) c.1065+5G>T (n.1065+5G>T) c.1046G>T (p.Ser349Ile) c.*61+5G>T (n.*61+5G>T) c.1001G>T (p.Ser334Ile) c.1370G>T (p.Ser457Ile) c.1164+5G>T (n.1164+5G>T) c.1401+5G>T (n.1401+5G>T) c.1365+5G>T (n.1365+5G>T) c.1097G>T (p.Ser366Ile) | |
X | g.49251659C>G | CA412948583 | FOXP3 | c.1041+5G>C (n.1041+5G>C) c.1146+5G>C (n.1146+5G>C) c.1215+5G>C (n.1215+5G>C) c.1065+5G>C (n.1065+5G>C) c.1046G>C (p.Ser349Thr) c.*61+5G>C (n.*61+5G>C) c.1001G>C (p.Ser334Thr) c.1370G>C (p.Ser457Thr) c.1164+5G>C (n.1164+5G>C) c.1401+5G>C (n.1401+5G>C) c.1365+5G>C (n.1365+5G>C) c.1097G>C (p.Ser366Thr) | |
X | g.49251659C>T | CA412948581 | FOXP3 | c.1041+5G>A (n.1041+5G>A) c.1146+5G>A (n.1146+5G>A) c.1215+5G>A (n.1215+5G>A) c.1065+5G>A (n.1065+5G>A) c.1046G>A (p.Ser349Asn) c.*61+5G>A (n.*61+5G>A) c.1001G>A (p.Ser334Asn) c.1370G>A (p.Ser457Asn) c.1164+5G>A (n.1164+5G>A) c.1401+5G>A (n.1401+5G>A) c.1365+5G>A (n.1365+5G>A) c.1097G>A (p.Ser366Asn) | |
X | g.49251660T>A | CA412948586 | FOXP3 | c.1041+4A>T (n.1041+4A>T) c.1146+4A>T (n.1146+4A>T) c.1215+4A>T (n.1215+4A>T) c.1065+4A>T (n.1065+4A>T) c.1045A>T (p.Ser349Cys) c.*61+4A>T (n.*61+4A>T) c.1000A>T (p.Ser334Cys) c.1369A>T (p.Ser457Cys) c.1164+4A>T (n.1164+4A>T) c.1401+4A>T (n.1401+4A>T) c.1365+4A>T (n.1365+4A>T) c.1096A>T (p.Ser366Cys) | |
X | g.49251660T>C | CA412948588 | FOXP3 | c.1041+4A>G (n.1041+4A>G) c.1146+4A>G (n.1146+4A>G) c.1215+4A>G (n.1215+4A>G) c.1065+4A>G (n.1065+4A>G) c.1045A>G (p.Ser349Gly) c.*61+4A>G (n.*61+4A>G) c.1000A>G (p.Ser334Gly) c.1369A>G (p.Ser457Gly) c.1164+4A>G (n.1164+4A>G) c.1401+4A>G (n.1401+4A>G) c.1365+4A>G (n.1365+4A>G) c.1096A>G (p.Ser366Gly) | gnomAD v4 |
X | g.49251660T>G | CA412948589 | FOXP3 | c.1041+4A>C (n.1041+4A>C) c.1146+4A>C (n.1146+4A>C) c.1215+4A>C (n.1215+4A>C) c.1065+4A>C (n.1065+4A>C) c.1045A>C (p.Ser349Arg) c.*61+4A>C (n.*61+4A>C) c.1000A>C (p.Ser334Arg) c.1369A>C (p.Ser457Arg) c.1164+4A>C (n.1164+4A>C) c.1401+4A>C (n.1401+4A>C) c.1365+4A>C (n.1365+4A>C) c.1096A>C (p.Ser366Arg) | |
X | g.49251661C>A | CA2693718109 | FOXP3 | c.1041+3G>T (n.1041+3G>T) c.1146+3G>T (n.1146+3G>T) c.1215+3G>T (n.1215+3G>T) c.1065+3G>T (n.1065+3G>T) c.1044G>T (p.Val348=) c.*61+3G>T (n.*61+3G>T) c.999G>T (p.Val333=) c.1368G>T (p.Val456=) c.1164+3G>T (n.1164+3G>T) c.1401+3G>T (n.1401+3G>T) c.1365+3G>T (n.1365+3G>T) c.1095G>T (p.Val365=) | gnomAD v4 |
X | g.49251661C>T | CA2693718110 | FOXP3 | c.1041+3G>A (n.1041+3G>A) c.1146+3G>A (n.1146+3G>A) c.1215+3G>A (n.1215+3G>A) c.1065+3G>A (n.1065+3G>A) c.1044G>A (p.Val348=) c.*61+3G>A (n.*61+3G>A) c.999G>A (p.Val333=) c.1368G>A (p.Val456=) c.1164+3G>A (n.1164+3G>A) c.1401+3G>A (n.1401+3G>A) c.1365+3G>A (n.1365+3G>A) c.1095G>A (p.Val365=) | gnomAD v4 |
X | g.49251662A>C | CA412948592 | FOXP3 | c.1041+2T>G (n.1041+2T>G) c.1146+2T>G (n.1146+2T>G) c.1215+2T>G (n.1215+2T>G) c.1065+2T>G (n.1065+2T>G) c.1043T>G (p.Val348Gly) c.*61+2T>G (n.*61+2T>G) c.998T>G (p.Val333Gly) c.1367T>G (p.Val456Gly) c.1164+2T>G (n.1164+2T>G) c.1401+2T>G (n.1401+2T>G) c.1365+2T>G (n.1365+2T>G) c.1094T>G (p.Val365Gly) | gnomAD v4 |
X | g.49251662A>G | CA412948594 | FOXP3 | c.1041+2T>C (n.1041+2T>C) c.1146+2T>C (n.1146+2T>C) c.1215+2T>C (n.1215+2T>C) c.1065+2T>C (n.1065+2T>C) c.1043T>C (p.Val348Ala) c.*61+2T>C (n.*61+2T>C) c.998T>C (p.Val333Ala) c.1367T>C (p.Val456Ala) c.1164+2T>C (n.1164+2T>C) c.1401+2T>C (n.1401+2T>C) c.1365+2T>C (n.1365+2T>C) c.1094T>C (p.Val365Ala) | |
X | g.49251662A>T | CA412948595 | FOXP3 | c.1041+2T>A (n.1041+2T>A) c.1146+2T>A (n.1146+2T>A) c.1215+2T>A (n.1215+2T>A) c.1065+2T>A (n.1065+2T>A) c.1043T>A (p.Val348Glu) c.*61+2T>A (n.*61+2T>A) c.998T>A (p.Val333Glu) c.1367T>A (p.Val456Glu) c.1164+2T>A (n.1164+2T>A) c.1401+2T>A (n.1401+2T>A) c.1365+2T>A (n.1365+2T>A) c.1094T>A (p.Val365Glu) | |
X | g.49251663C>A | CA412948597 | FOXP3 | c.1041+1G>T (n.1041+1G>T) c.1146+1G>T (n.1146+1G>T) c.1215+1G>T (n.1215+1G>T) c.1065+1G>T (n.1065+1G>T) c.1042G>T (p.Val348Leu) c.*61+1G>T (n.*61+1G>T) c.997G>T (p.Val333Leu) c.1366G>T (p.Val456Leu) c.1164+1G>T (n.1164+1G>T) c.1401+1G>T (n.1401+1G>T) c.1365+1G>T (n.1365+1G>T) c.1093G>T (p.Val365Leu) | |
X | g.49251663C>G | CA412948599 | FOXP3 | c.1041+1G>C (n.1041+1G>C) c.1146+1G>C (n.1146+1G>C) c.1215+1G>C (n.1215+1G>C) c.1065+1G>C (n.1065+1G>C) c.1042G>C (p.Val348Leu) c.*61+1G>C (n.*61+1G>C) c.997G>C (p.Val333Leu) c.1366G>C (p.Val456Leu) c.1164+1G>C (n.1164+1G>C) c.1401+1G>C (n.1401+1G>C) c.1365+1G>C (n.1365+1G>C) c.1093G>C (p.Val365Leu) | |
X | g.49251663C>T | CA412948601 | FOXP3 | c.1041+1G>A (n.1041+1G>A) c.1146+1G>A (n.1146+1G>A) c.1215+1G>A (n.1215+1G>A) c.1065+1G>A (n.1065+1G>A) c.1042G>A (p.Val348Met) c.*61+1G>A (n.*61+1G>A) c.997G>A (p.Val333Met) c.1366G>A (p.Val456Met) c.1164+1G>A (n.1164+1G>A) c.1401+1G>A (n.1401+1G>A) c.1365+1G>A (n.1365+1G>A) c.1093G>A (p.Val365Met) | |
X | g.49251664C>A | CA412948603 | FOXP3 | c.1041G>T (p.Lys347Asn) c.1146G>T (p.Lys382Asn) c.1215G>T (p.Lys405Asn) c.1065G>T (p.Lys355Asn) c.*61G>T (n.*61G>T) c.996G>T (p.Lys332Asn) c.1365G>T (p.Lys455Asn) c.1164G>T (p.Lys388Asn) c.1401G>T (p.Lys467Asn) c.1092G>T (p.Lys364Asn) | |
X | g.49251664C>G | CA412948604 | FOXP3 | c.1041G>C (p.Lys347Asn) c.1146G>C (p.Lys382Asn) c.1215G>C (p.Lys405Asn) c.1065G>C (p.Lys355Asn) c.*61G>C (n.*61G>C) c.996G>C (p.Lys332Asn) c.1365G>C (p.Lys455Asn) c.1164G>C (p.Lys388Asn) c.1401G>C (p.Lys467Asn) c.1092G>C (p.Lys364Asn) | |
X | g.49251664C>T | CA516569847 | FOXP3 | c.1041G>A (p.Lys347=) c.1146G>A (p.Lys382=) c.1215G>A (p.Lys405=) c.1065G>A (p.Lys355=) c.*61G>A (n.*61G>A) c.996G>A (p.Lys332=) c.1365G>A (p.Lys455=) c.1164G>A (p.Lys388=) c.1401G>A (p.Lys467=) c.1092G>A (p.Lys364=) | gnomAD v4 |
X | g.49251665T>A | CA412948611 | FOXP3 | c.1040A>T (p.Lys347Met) c.1145A>T (p.Lys382Met) c.1214A>T (p.Lys405Met) c.1064A>T (p.Lys355Met) c.*60A>T (n.*60A>T) c.995A>T (p.Lys332Met) c.1364A>T (p.Lys455Met) c.1163A>T (p.Lys388Met) c.1400A>T (p.Lys467Met) c.1091A>T (p.Lys364Met) | |
X | g.49251665T>C | CA412948609 | FOXP3 | c.1040A>G (p.Lys347Arg) c.1145A>G (p.Lys382Arg) c.1214A>G (p.Lys405Arg) c.1064A>G (p.Lys355Arg) c.*60A>G (n.*60A>G) c.995A>G (p.Lys332Arg) c.1364A>G (p.Lys455Arg) c.1163A>G (p.Lys388Arg) c.1400A>G (p.Lys467Arg) c.1091A>G (p.Lys364Arg) | |
X | g.49251665T>G | CA412948607 | FOXP3 | c.1040A>C (p.Lys347Thr) c.1145A>C (p.Lys382Thr) c.1214A>C (p.Lys405Thr) c.1064A>C (p.Lys355Thr) c.*60A>C (n.*60A>C) c.995A>C (p.Lys332Thr) c.1364A>C (p.Lys455Thr) c.1163A>C (p.Lys388Thr) c.1400A>C (p.Lys467Thr) c.1091A>C (p.Lys364Thr) | |
X | g.49251666T>A | CA412948613 | FOXP3 | c.1039A>T (p.Lys347Ter) c.1144A>T (p.Lys382Ter) c.1213A>T (p.Lys405Ter) c.1063A>T (p.Lys355Ter) c.*59A>T (n.*59A>T) c.994A>T (p.Lys332Ter) c.1363A>T (p.Lys455Ter) c.1162A>T (p.Lys388Ter) c.1399A>T (p.Lys467Ter) c.1090A>T (p.Lys364Ter) | |
X | g.49251666T>C | CA412948614 | FOXP3 | c.1039A>G (p.Lys347Glu) c.1144A>G (p.Lys382Glu) c.1213A>G (p.Lys405Glu) c.1063A>G (p.Lys355Glu) c.*59A>G (n.*59A>G) c.994A>G (p.Lys332Glu) c.1363A>G (p.Lys455Glu) c.1162A>G (p.Lys388Glu) c.1399A>G (p.Lys467Glu) c.1090A>G (p.Lys364Glu) | |
X | g.49251666T>G | CA412948616 | FOXP3 | c.1039A>C (p.Lys347Gln) c.1144A>C (p.Lys382Gln) c.1213A>C (p.Lys405Gln) c.1063A>C (p.Lys355Gln) c.*59A>C (n.*59A>C) c.994A>C (p.Lys332Gln) c.1363A>C (p.Lys455Gln) c.1162A>C (p.Lys388Gln) c.1399A>C (p.Lys467Gln) c.1090A>C (p.Lys364Gln) | |
X | g.49251667C>A | CA412948618 | FOXP3 | c.1038G>T (p.Trp346Cys) c.1143G>T (p.Trp381Cys) c.1212G>T (p.Trp404Cys) c.1062G>T (p.Trp354Cys) c.*58G>T (n.*58G>T) c.993G>T (p.Trp331Cys) c.1362G>T (p.Trp454Cys) c.1161G>T (p.Trp387Cys) c.1398G>T (p.Trp466Cys) c.1089G>T (p.Trp363Cys) | |
X | g.49251667C>G | CA412948620 | FOXP3 | c.1038G>C (p.Trp346Cys) c.1143G>C (p.Trp381Cys) c.1212G>C (p.Trp404Cys) c.1062G>C (p.Trp354Cys) c.*58G>C (n.*58G>C) c.993G>C (p.Trp331Cys) c.1362G>C (p.Trp454Cys) c.1161G>C (p.Trp387Cys) c.1398G>C (p.Trp466Cys) c.1089G>C (p.Trp363Cys) | |
X | g.49251667C>T | CA412948622 | FOXP3 | c.1038G>A (p.Trp346Ter) c.1143G>A (p.Trp381Ter) c.1212G>A (p.Trp404Ter) c.1062G>A (p.Trp354Ter) c.*58G>A (n.*58G>A) c.993G>A (p.Trp331Ter) c.1362G>A (p.Trp454Ter) c.1161G>A (p.Trp387Ter) c.1398G>A (p.Trp466Ter) c.1089G>A (p.Trp363Ter) | |
X | g.49251668C>A | CA412948623 | FOXP3 | c.1037G>T (p.Trp346Leu) c.1142G>T (p.Trp381Leu) c.1211G>T (p.Trp404Leu) c.1061G>T (p.Trp354Leu) c.*57G>T (n.*57G>T) c.992G>T (p.Trp331Leu) c.1361G>T (p.Trp454Leu) c.1160G>T (p.Trp387Leu) c.1397G>T (p.Trp466Leu) c.1088G>T (p.Trp363Leu) | |
X | g.49251668C= | CA2428551389 | FOXP3 | c.1037G= (p.Trp346=) c.1142G= (p.Trp381=) c.1211G= (p.Trp404=) c.1061G= (p.Trp354=) c.*57G= (n.*57G=) c.992G= (p.Trp331=) c.1361G= (p.Trp454=) c.1160G= (p.Trp387=) c.1397G= (p.Trp466=) c.1088G= (p.Trp363=) | |
X | g.49251668C>G | CA412948625 | FOXP3 | c.1037G>C (p.Trp346Ser) c.1142G>C (p.Trp381Ser) c.1211G>C (p.Trp404Ser) c.1061G>C (p.Trp354Ser) c.*57G>C (n.*57G>C) c.992G>C (p.Trp331Ser) c.1361G>C (p.Trp454Ser) c.1160G>C (p.Trp387Ser) c.1397G>C (p.Trp466Ser) c.1088G>C (p.Trp363Ser) | |
X | g.49251668C>T | CA412948627 | FOXP3 | c.1037G>A (p.Trp346Ter) c.1142G>A (p.Trp381Ter) c.1211G>A (p.Trp404Ter) c.1061G>A (p.Trp354Ter) c.*57G>A (n.*57G>A) c.992G>A (p.Trp331Ter) c.1361G>A (p.Trp454Ter) c.1160G>A (p.Trp387Ter) c.1397G>A (p.Trp466Ter) c.1088G>A (p.Trp363Ter) | dbSNP gnomAD v2 |
X | g.49251669A>C | CA412948629 | FOXP3 | c.1036T>G (p.Trp346Gly) c.1141T>G (p.Trp381Gly) c.1210T>G (p.Trp404Gly) c.1060T>G (p.Trp354Gly) c.*56T>G (n.*56T>G) c.991T>G (p.Trp331Gly) c.1360T>G (p.Trp454Gly) c.1159T>G (p.Trp387Gly) c.1396T>G (p.Trp466Gly) c.1087T>G (p.Trp363Gly) | |
X | g.49251669A>G | CA412948631 | FOXP3 | c.1036T>C (p.Trp346Arg) c.1141T>C (p.Trp381Arg) c.1210T>C (p.Trp404Arg) c.1060T>C (p.Trp354Arg) c.*56T>C (n.*56T>C) c.991T>C (p.Trp331Arg) c.1360T>C (p.Trp454Arg) c.1159T>C (p.Trp387Arg) c.1396T>C (p.Trp466Arg) c.1087T>C (p.Trp363Arg) | |
X | g.49251669A>T | CA412948633 | FOXP3 | c.1036T>A (p.Trp346Arg) c.1141T>A (p.Trp381Arg) c.1210T>A (p.Trp404Arg) c.1060T>A (p.Trp354Arg) c.*56T>A (n.*56T>A) c.991T>A (p.Trp331Arg) c.1360T>A (p.Trp454Arg) c.1159T>A (p.Trp387Arg) c.1396T>A (p.Trp466Arg) c.1087T>A (p.Trp363Arg) | |
X | g.49251670G>A | CA516569848 | FOXP3 | c.1035C>T (p.Thr345=) c.1140C>T (p.Thr380=) c.1209C>T (p.Thr403=) c.1059C>T (p.Thr353=) c.*55C>T (n.*55C>T) c.990C>T (p.Thr330=) c.1359C>T (p.Thr453=) c.1158C>T (p.Thr386=) c.1395C>T (p.Thr465=) c.1086C>T (p.Thr362=) | |
X | g.49251670G>C | CA516569849 | FOXP3 | c.1035C>G (p.Thr345=) c.1140C>G (p.Thr380=) c.1209C>G (p.Thr403=) c.1059C>G (p.Thr353=) c.*55C>G (n.*55C>G) c.990C>G (p.Thr330=) c.1359C>G (p.Thr453=) c.1158C>G (p.Thr386=) c.1395C>G (p.Thr465=) c.1086C>G (p.Thr362=) | |
X | g.49251670G>T | CA516569850 | FOXP3 | c.1035C>A (p.Thr345=) c.1140C>A (p.Thr380=) c.1209C>A (p.Thr403=) c.1059C>A (p.Thr353=) c.*55C>A (n.*55C>A) c.990C>A (p.Thr330=) c.1359C>A (p.Thr453=) c.1158C>A (p.Thr386=) c.1395C>A (p.Thr465=) c.1086C>A (p.Thr362=) | |
X | g.49251671G>A | CA412948637 | FOXP3 | c.1034C>T (p.Thr345Ile) c.1139C>T (p.Thr380Ile) c.1208C>T (p.Thr403Ile) c.1058C>T (p.Thr353Ile) c.*54C>T (n.*54C>T) c.989C>T (p.Thr330Ile) c.1358C>T (p.Thr453Ile) c.1157C>T (p.Thr386Ile) c.1394C>T (p.Thr465Ile) c.1085C>T (p.Thr362Ile) | |
X | g.49251671G>C | CA412948639 | FOXP3 | c.1034C>G (p.Thr345Ser) c.1139C>G (p.Thr380Ser) c.1208C>G (p.Thr403Ser) c.1058C>G (p.Thr353Ser) c.*54C>G (n.*54C>G) c.989C>G (p.Thr330Ser) c.1358C>G (p.Thr453Ser) c.1157C>G (p.Thr386Ser) c.1394C>G (p.Thr465Ser) c.1085C>G (p.Thr362Ser) | |
X | g.49251671G>T | CA412948635 | FOXP3 | c.1034C>A (p.Thr345Asn) c.1139C>A (p.Thr380Asn) c.1208C>A (p.Thr403Asn) c.1058C>A (p.Thr353Asn) c.*54C>A (n.*54C>A) c.989C>A (p.Thr330Asn) c.1358C>A (p.Thr453Asn) c.1157C>A (p.Thr386Asn) c.1394C>A (p.Thr465Asn) c.1085C>A (p.Thr362Asn) | |
X | g.49251672T>A | CA412948641 | FOXP3 | c.1033A>T (p.Thr345Ser) c.1138A>T (p.Thr380Ser) c.1207A>T (p.Thr403Ser) c.1057A>T (p.Thr353Ser) c.*53A>T (n.*53A>T) c.988A>T (p.Thr330Ser) c.1357A>T (p.Thr453Ser) c.1156A>T (p.Thr386Ser) c.1393A>T (p.Thr465Ser) c.1084A>T (p.Thr362Ser) | gnomAD v4 |
X | g.49251672T>C | CA412948644 | FOXP3 | c.1033A>G (p.Thr345Ala) c.1138A>G (p.Thr380Ala) c.1207A>G (p.Thr403Ala) c.1057A>G (p.Thr353Ala) c.*53A>G (n.*53A>G) c.988A>G (p.Thr330Ala) c.1357A>G (p.Thr453Ala) c.1156A>G (p.Thr386Ala) c.1393A>G (p.Thr465Ala) c.1084A>G (p.Thr362Ala) | |
X | g.49251672T>G | CA412948646 | FOXP3 | c.1033A>C (p.Thr345Pro) c.1138A>C (p.Thr380Pro) c.1207A>C (p.Thr403Pro) c.1057A>C (p.Thr353Pro) c.*53A>C (n.*53A>C) c.988A>C (p.Thr330Pro) c.1357A>C (p.Thr453Pro) c.1156A>C (p.Thr386Pro) c.1393A>C (p.Thr465Pro) c.1084A>C (p.Thr362Pro) | |
X | g.49251673G>A | CA516569851 | FOXP3 | c.1032C>T (p.Ala344=) c.1137C>T (p.Ala379=) c.1206C>T (p.Ala402=) c.1056C>T (p.Ala352=) c.*52C>T (n.*52C>T) c.987C>T (p.Ala329=) c.1356C>T (p.Ala452=) c.1155C>T (p.Ala385=) c.1392C>T (p.Ala464=) c.1083C>T (p.Ala361=) | |
X | g.49251673G>C | CA516569852 | FOXP3 | c.1032C>G (p.Ala344=) c.1137C>G (p.Ala379=) c.1206C>G (p.Ala402=) c.1056C>G (p.Ala352=) c.*52C>G (n.*52C>G) c.987C>G (p.Ala329=) c.1356C>G (p.Ala452=) c.1155C>G (p.Ala385=) c.1392C>G (p.Ala464=) c.1083C>G (p.Ala361=) | |
X | g.49251673G>T | CA516569853 | FOXP3 | c.1032C>A (p.Ala344=) c.1137C>A (p.Ala379=) c.1206C>A (p.Ala402=) c.1056C>A (p.Ala352=) c.*52C>A (n.*52C>A) c.987C>A (p.Ala329=) c.1356C>A (p.Ala452=) c.1155C>A (p.Ala385=) c.1392C>A (p.Ala464=) c.1083C>A (p.Ala361=) | gnomAD v4 |
X | g.49251674G>A | CA412948648 | FOXP3 | c.1031C>T (p.Ala344Val) c.1136C>T (p.Ala379Val) c.1205C>T (p.Ala402Val) c.1055C>T (p.Ala352Val) c.*51C>T (n.*51C>T) c.986C>T (p.Ala329Val) c.1355C>T (p.Ala452Val) c.1154C>T (p.Ala385Val) c.1391C>T (p.Ala464Val) c.1082C>T (p.Ala361Val) | |
X | g.49251674G>C | CA412948649 | FOXP3 | c.1031C>G (p.Ala344Gly) c.1136C>G (p.Ala379Gly) c.1205C>G (p.Ala402Gly) c.1055C>G (p.Ala352Gly) c.*51C>G (n.*51C>G) c.986C>G (p.Ala329Gly) c.1355C>G (p.Ala452Gly) c.1154C>G (p.Ala385Gly) c.1391C>G (p.Ala464Gly) c.1082C>G (p.Ala361Gly) | gnomAD v4 |
X | g.49251674G>T | CA412948651 | FOXP3 | c.1031C>A (p.Ala344Asp) c.1136C>A (p.Ala379Asp) c.1205C>A (p.Ala402Asp) c.1055C>A (p.Ala352Asp) c.*51C>A (n.*51C>A) c.986C>A (p.Ala329Asp) c.1355C>A (p.Ala452Asp) c.1154C>A (p.Ala385Asp) c.1391C>A (p.Ala464Asp) c.1082C>A (p.Ala361Asp) | dbSNP |
X | g.49251675C>A | CA412948654 | FOXP3 | c.1030G>T (p.Ala344Ser) c.1135G>T (p.Ala379Ser) c.1204G>T (p.Ala402Ser) c.1054G>T (p.Ala352Ser) c.*50G>T (n.*50G>T) c.985G>T (p.Ala329Ser) c.1354G>T (p.Ala452Ser) c.1153G>T (p.Ala385Ser) c.1390G>T (p.Ala464Ser) c.1081G>T (p.Ala361Ser) | |
X | g.49251675C= | CA2428551390 | FOXP3 | c.1030G= (p.Ala344=) c.1135G= (p.Ala379=) c.1204G= (p.Ala402=) c.1054G= (p.Ala352=) c.*50G= (n.*50G=) c.985G= (p.Ala329=) c.1354G= (p.Ala452=) c.1153G= (p.Ala385=) c.1390G= (p.Ala464=) c.1081G= (p.Ala361=) | |
X | g.49251675C>G | CA412948656 | FOXP3 | c.1030G>C (p.Ala344Pro) c.1135G>C (p.Ala379Pro) c.1204G>C (p.Ala402Pro) c.1054G>C (p.Ala352Pro) c.*50G>C (n.*50G>C) c.985G>C (p.Ala329Pro) c.1354G>C (p.Ala452Pro) c.1153G>C (p.Ala385Pro) c.1390G>C (p.Ala464Pro) c.1081G>C (p.Ala361Pro) | |
X | g.49251675C>T | CA412948657 | FOXP3 | c.1030G>A (p.Ala344Thr) c.1135G>A (p.Ala379Thr) c.1204G>A (p.Ala402Thr) c.1054G>A (p.Ala352Thr) c.*50G>A (n.*50G>A) c.985G>A (p.Ala329Thr) c.1354G>A (p.Ala452Thr) c.1153G>A (p.Ala385Thr) c.1390G>A (p.Ala464Thr) c.1081G>A (p.Ala361Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.49251676A>C | CA516569854 | FOXP3 | c.1029T>G (p.Pro343=) c.1134T>G (p.Pro378=) c.1203T>G (p.Pro401=) c.1053T>G (p.Pro351=) c.*49T>G (n.*49T>G) c.984T>G (p.Pro328=) c.1353T>G (p.Pro451=) c.1152T>G (p.Pro384=) c.1389T>G (p.Pro463=) c.1080T>G (p.Pro360=) | |
X | g.49251676A>G | CA516569855 | FOXP3 | c.1029T>C (p.Pro343=) c.1134T>C (p.Pro378=) c.1203T>C (p.Pro401=) c.1053T>C (p.Pro351=) c.*49T>C (n.*49T>C) c.984T>C (p.Pro328=) c.1353T>C (p.Pro451=) c.1152T>C (p.Pro384=) c.1389T>C (p.Pro463=) c.1080T>C (p.Pro360=) | |
X | g.49251676A>T | CA516569856 | FOXP3 | c.1029T>A (p.Pro343=) c.1134T>A (p.Pro378=) c.1203T>A (p.Pro401=) c.1053T>A (p.Pro351=) c.*49T>A (n.*49T>A) c.984T>A (p.Pro328=) c.1353T>A (p.Pro451=) c.1152T>A (p.Pro384=) c.1389T>A (p.Pro463=) c.1080T>A (p.Pro360=) | |
X | g.49251677G>A | CA412948661 | FOXP3 | c.1028C>T (p.Pro343Leu) c.1133C>T (p.Pro378Leu) c.1202C>T (p.Pro401Leu) c.1052C>T (p.Pro351Leu) c.*48C>T (n.*48C>T) c.983C>T (p.Pro328Leu) c.1352C>T (p.Pro451Leu) c.1151C>T (p.Pro384Leu) c.1388C>T (p.Pro463Leu) c.1079C>T (p.Pro360Leu) | |
X | g.49251677G>C | CA412948663 | FOXP3 | c.1028C>G (p.Pro343Arg) c.1133C>G (p.Pro378Arg) c.1202C>G (p.Pro401Arg) c.1052C>G (p.Pro351Arg) c.*48C>G (n.*48C>G) c.983C>G (p.Pro328Arg) c.1352C>G (p.Pro451Arg) c.1151C>G (p.Pro384Arg) c.1388C>G (p.Pro463Arg) c.1079C>G (p.Pro360Arg) | |
X | g.49251677G>T | CA412948665 | FOXP3 | c.1028C>A (p.Pro343His) c.1133C>A (p.Pro378His) c.1202C>A (p.Pro401His) c.1052C>A (p.Pro351His) c.*48C>A (n.*48C>A) c.983C>A (p.Pro328His) c.1352C>A (p.Pro451His) c.1151C>A (p.Pro384His) c.1388C>A (p.Pro463His) c.1079C>A (p.Pro360His) | |
X | g.49251678G>A | CA412948667 | FOXP3 | c.1027C>T (p.Pro343Ser) c.1132C>T (p.Pro378Ser) c.1201C>T (p.Pro401Ser) c.1051C>T (p.Pro351Ser) c.*47C>T (n.*47C>T) c.982C>T (p.Pro328Ser) c.1351C>T (p.Pro451Ser) c.1150C>T (p.Pro384Ser) c.1387C>T (p.Pro463Ser) c.1078C>T (p.Pro360Ser) | |
X | g.49251678G>C | CA412948669 | FOXP3 | c.1027C>G (p.Pro343Ala) c.1132C>G (p.Pro378Ala) c.1201C>G (p.Pro401Ala) c.1051C>G (p.Pro351Ala) c.*47C>G (n.*47C>G) c.982C>G (p.Pro328Ala) c.1351C>G (p.Pro451Ala) c.1150C>G (p.Pro384Ala) c.1387C>G (p.Pro463Ala) c.1078C>G (p.Pro360Ala) | |
X | g.49251678G>T | CA412948670 | FOXP3 | c.1027C>A (p.Pro343Thr) c.1132C>A (p.Pro378Thr) c.1201C>A (p.Pro401Thr) c.1051C>A (p.Pro351Thr) c.*47C>A (n.*47C>A) c.982C>A (p.Pro328Thr) c.1351C>A (p.Pro451Thr) c.1150C>A (p.Pro384Thr) c.1387C>A (p.Pro463Thr) c.1078C>A (p.Pro360Thr) | |
X | g.49251679A>C | CA412948672 | FOXP3 | c.1026T>G (p.His342Gln) c.1131T>G (p.His377Gln) c.1200T>G (p.His400Gln) c.1050T>G (p.His350Gln) c.*46T>G (n.*46T>G) c.981T>G (p.His327Gln) c.1350T>G (p.His450Gln) c.1149T>G (p.His383Gln) c.1386T>G (p.His462Gln) c.1077T>G (p.His359Gln) | |
X | g.49251679A>G | CA516569857 | FOXP3 | c.1026T>C (p.His342=) c.1131T>C (p.His377=) c.1200T>C (p.His400=) c.1050T>C (p.His350=) c.*46T>C (n.*46T>C) c.981T>C (p.His327=) c.1350T>C (p.His450=) c.1149T>C (p.His383=) c.1386T>C (p.His462=) c.1077T>C (p.His359=) | |
X | g.49251679A>T | CA412948675 | FOXP3 | c.1026T>A (p.His342Gln) c.1131T>A (p.His377Gln) c.1200T>A (p.His400Gln) c.1050T>A (p.His350Gln) c.*46T>A (n.*46T>A) c.981T>A (p.His327Gln) c.1350T>A (p.His450Gln) c.1149T>A (p.His383Gln) c.1386T>A (p.His462Gln) c.1077T>A (p.His359Gln) | |
X | g.49251680T>A | CA412948677 | FOXP3 | c.1025A>T (p.His342Leu) c.1130A>T (p.His377Leu) c.1199A>T (p.His400Leu) c.1049A>T (p.His350Leu) c.*45A>T (n.*45A>T) c.980A>T (p.His327Leu) c.1349A>T (p.His450Leu) c.1148A>T (p.His383Leu) c.1385A>T (p.His462Leu) c.1076A>T (p.His359Leu) | |
X | g.49251680T>C | CA412948679 | FOXP3 | c.1025A>G (p.His342Arg) c.1130A>G (p.His377Arg) c.1199A>G (p.His400Arg) c.1049A>G (p.His350Arg) c.*45A>G (n.*45A>G) c.980A>G (p.His327Arg) c.1349A>G (p.His450Arg) c.1148A>G (p.His383Arg) c.1385A>G (p.His462Arg) c.1076A>G (p.His359Arg) | dbSNP |
X | g.49251680T>G | CA412948681 | FOXP3 | c.1025A>C (p.His342Pro) c.1130A>C (p.His377Pro) c.1199A>C (p.His400Pro) c.1049A>C (p.His350Pro) c.*45A>C (n.*45A>C) c.980A>C (p.His327Pro) c.1349A>C (p.His450Pro) c.1148A>C (p.His383Pro) c.1385A>C (p.His462Pro) c.1076A>C (p.His359Pro) | |
X | g.49251680T= | CA2428551391 | FOXP3 | c.1025A= (p.His342=) c.1130A= (p.His377=) c.1199A= (p.His400=) c.1049A= (p.His350=) c.*45A= (n.*45A=) c.980A= (p.His327=) c.1349A= (p.His450=) c.1148A= (p.His383=) c.1385A= (p.His462=) c.1076A= (p.His359=) | |
X | g.49251681G>A | CA412948684 | FOXP3 | c.1024C>T (p.His342Tyr) c.1129C>T (p.His377Tyr) c.1198C>T (p.His400Tyr) c.1048C>T (p.His350Tyr) c.*44C>T (n.*44C>T) c.979C>T (p.His327Tyr) c.1348C>T (p.His450Tyr) c.1147C>T (p.His383Tyr) c.1384C>T (p.His462Tyr) c.1075C>T (p.His359Tyr) | |
X | g.49251681G>C | CA412948685 | FOXP3 | c.1024C>G (p.His342Asp) c.1129C>G (p.His377Asp) c.1198C>G (p.His400Asp) c.1048C>G (p.His350Asp) c.*44C>G (n.*44C>G) c.979C>G (p.His327Asp) c.1348C>G (p.His450Asp) c.1147C>G (p.His383Asp) c.1384C>G (p.His462Asp) c.1075C>G (p.His359Asp) | ClinVar dbSNP |
X | g.49251681G= | CA2428551392 | FOXP3 | c.1024C= (p.His342=) c.1129C= (p.His377=) c.1198C= (p.His400=) c.1048C= (p.His350=) c.*44C= (n.*44C=) c.979C= (p.His327=) c.1348C= (p.His450=) c.1147C= (p.His383=) c.1384C= (p.His462=) c.1075C= (p.His359=) | |
X | g.49251681G>T | CA412948686 | FOXP3 | c.1024C>A (p.His342Asn) c.1129C>A (p.His377Asn) c.1198C>A (p.His400Asn) c.1048C>A (p.His350Asn) c.*44C>A (n.*44C>A) c.979C>A (p.His327Asn) c.1348C>A (p.His450Asn) c.1147C>A (p.His383Asn) c.1384C>A (p.His462Asn) c.1075C>A (p.His359Asn) | gnomAD v4 |
X | g.49251682G>A | CA516569858 | FOXP3 | c.1023C>T (p.Asn341=) c.1128C>T (p.Asn376=) c.1197C>T (p.Asn399=) c.1047C>T (p.Asn349=) c.*43C>T (n.*43C>T) c.978C>T (p.Asn326=) c.1347C>T (p.Asn449=) c.1146C>T (p.Asn382=) c.1383C>T (p.Asn461=) c.1074C>T (p.Asn358=) | |
X | g.49251682G>C | CA412948688 | FOXP3 | c.1023C>G (p.Asn341Lys) c.1128C>G (p.Asn376Lys) c.1197C>G (p.Asn399Lys) c.1047C>G (p.Asn349Lys) c.*43C>G (n.*43C>G) c.978C>G (p.Asn326Lys) c.1347C>G (p.Asn449Lys) c.1146C>G (p.Asn382Lys) c.1383C>G (p.Asn461Lys) c.1074C>G (p.Asn358Lys) | |
X | g.49251682G>T | CA412948690 | FOXP3 | c.1023C>A (p.Asn341Lys) c.1128C>A (p.Asn376Lys) c.1197C>A (p.Asn399Lys) c.1047C>A (p.Asn349Lys) c.*43C>A (n.*43C>A) c.978C>A (p.Asn326Lys) c.1347C>A (p.Asn449Lys) c.1146C>A (p.Asn382Lys) c.1383C>A (p.Asn461Lys) c.1074C>A (p.Asn358Lys) | |
X | g.49251683T>A | CA412948692 | FOXP3 | c.1022A>T (p.Asn341Ile) c.1127A>T (p.Asn376Ile) c.1196A>T (p.Asn399Ile) c.1046A>T (p.Asn349Ile) c.*42A>T (n.*42A>T) c.977A>T (p.Asn326Ile) c.1346A>T (p.Asn449Ile) c.1145A>T (p.Asn382Ile) c.1382A>T (p.Asn461Ile) c.1073A>T (p.Asn358Ile) | |
X | g.49251683T>C | CA412948694 | FOXP3 | c.1022A>G (p.Asn341Ser) c.1127A>G (p.Asn376Ser) c.1196A>G (p.Asn399Ser) c.1046A>G (p.Asn349Ser) c.*42A>G (n.*42A>G) c.977A>G (p.Asn326Ser) c.1346A>G (p.Asn449Ser) c.1145A>G (p.Asn382Ser) c.1382A>G (p.Asn461Ser) c.1073A>G (p.Asn358Ser) | |
X | g.49251683T>G | CA412948696 | FOXP3 | c.1022A>C (p.Asn341Thr) c.1127A>C (p.Asn376Thr) c.1196A>C (p.Asn399Thr) c.1046A>C (p.Asn349Thr) c.*42A>C (n.*42A>C) c.977A>C (p.Asn326Thr) c.1346A>C (p.Asn449Thr) c.1145A>C (p.Asn382Thr) c.1382A>C (p.Asn461Thr) c.1073A>C (p.Asn358Thr) | |
X | g.49251684T>A | CA412948699 | FOXP3 | c.1021A>T (p.Asn341Tyr) c.1126A>T (p.Asn376Tyr) c.1195A>T (p.Asn399Tyr) c.1045A>T (p.Asn349Tyr) c.*41A>T (n.*41A>T) c.976A>T (p.Asn326Tyr) c.1345A>T (p.Asn449Tyr) c.1144A>T (p.Asn382Tyr) c.1381A>T (p.Asn461Tyr) c.1072A>T (p.Asn358Tyr) | |
X | g.49251684T>C | CA412948701 | FOXP3 | c.1021A>G (p.Asn341Asp) c.1126A>G (p.Asn376Asp) c.1195A>G (p.Asn399Asp) c.1045A>G (p.Asn349Asp) c.*41A>G (n.*41A>G) c.976A>G (p.Asn326Asp) c.1345A>G (p.Asn449Asp) c.1144A>G (p.Asn382Asp) c.1381A>G (p.Asn461Asp) c.1072A>G (p.Asn358Asp) | |
X | g.49251684T>G | CA412948703 | FOXP3 | c.1021A>C (p.Asn341His) c.1126A>C (p.Asn376His) c.1195A>C (p.Asn399His) c.1045A>C (p.Asn349His) c.*41A>C (n.*41A>C) c.976A>C (p.Asn326His) c.1345A>C (p.Asn449His) c.1144A>C (p.Asn382His) c.1381A>C (p.Asn461His) c.1072A>C (p.Asn358His) | |
X | g.49251685T>A | CA412948704 | FOXP3 | c.1020A>T (p.Arg340Ser) c.1125A>T (p.Arg375Ser) c.1194A>T (p.Arg398Ser) c.1044A>T (p.Arg348Ser) c.*40A>T (n.*40A>T) c.975A>T (p.Arg325Ser) c.1344A>T (p.Arg448Ser) c.1143A>T (p.Arg381Ser) c.1380A>T (p.Arg460Ser) c.1071A>T (p.Arg357Ser) | |
X | g.49251685T>C | CA516569859 | FOXP3 | c.1020A>G (p.Arg340=) c.1125A>G (p.Arg375=) c.1194A>G (p.Arg398=) c.1044A>G (p.Arg348=) c.*40A>G (n.*40A>G) c.975A>G (p.Arg325=) c.1344A>G (p.Arg448=) c.1143A>G (p.Arg381=) c.1380A>G (p.Arg460=) c.1071A>G (p.Arg357=) | |
X | g.49251685T>G | CA412948705 | FOXP3 | c.1020A>C (p.Arg340Ser) c.1125A>C (p.Arg375Ser) c.1194A>C (p.Arg398Ser) c.1044A>C (p.Arg348Ser) c.*40A>C (n.*40A>C) c.975A>C (p.Arg325Ser) c.1344A>C (p.Arg448Ser) c.1143A>C (p.Arg381Ser) c.1380A>C (p.Arg460Ser) c.1071A>C (p.Arg357Ser) | |
X | g.49251686C>A | CA412948708 | FOXP3 | c.1019G>T (p.Arg340Ile) c.1124G>T (p.Arg375Ile) c.1193G>T (p.Arg398Ile) c.1043G>T (p.Arg348Ile) c.*39G>T (n.*39G>T) c.974G>T (p.Arg325Ile) c.1343G>T (p.Arg448Ile) c.1142G>T (p.Arg381Ile) c.1379G>T (p.Arg460Ile) c.1070G>T (p.Arg357Ile) | |
X | g.49251686C= | CA2428551393 | FOXP3 | c.1019G= (p.Arg340=) c.1124G= (p.Arg375=) c.1193G= (p.Arg398=) c.1043G= (p.Arg348=) c.*39G= (n.*39G=) c.974G= (p.Arg325=) c.1343G= (p.Arg448=) c.1142G= (p.Arg381=) c.1379G= (p.Arg460=) c.1070G= (p.Arg357=) | |
X | g.49251686C>G | CA412948711 | FOXP3 | c.1019G>C (p.Arg340Thr) c.1124G>C (p.Arg375Thr) c.1193G>C (p.Arg398Thr) c.1043G>C (p.Arg348Thr) c.*39G>C (n.*39G>C) c.974G>C (p.Arg325Thr) c.1343G>C (p.Arg448Thr) c.1142G>C (p.Arg381Thr) c.1379G>C (p.Arg460Thr) c.1070G>C (p.Arg357Thr) | |
X | g.49251686C>T | CA10411662 | FOXP3 | c.1019G>A (p.Arg340Lys) c.1124G>A (p.Arg375Lys) c.1193G>A (p.Arg398Lys) c.1043G>A (p.Arg348Lys) c.*39G>A (n.*39G>A) c.974G>A (p.Arg325Lys) c.1343G>A (p.Arg448Lys) c.1142G>A (p.Arg381Lys) c.1379G>A (p.Arg460Lys) c.1070G>A (p.Arg357Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49251687T>A | CA412948713 | FOXP3 | c.1018A>T (p.Arg340Ter) c.1123A>T (p.Arg375Ter) c.1192A>T (p.Arg398Ter) c.1042A>T (p.Arg348Ter) c.*38A>T (n.*38A>T) c.973A>T (p.Arg325Ter) c.1342A>T (p.Arg448Ter) c.1141A>T (p.Arg381Ter) c.1378A>T (p.Arg460Ter) c.1069A>T (p.Arg357Ter) | |
X | g.49251687T>C | CA412948714 | FOXP3 | c.1018A>G (p.Arg340Gly) c.1123A>G (p.Arg375Gly) c.1192A>G (p.Arg398Gly) c.1042A>G (p.Arg348Gly) c.*38A>G (n.*38A>G) c.973A>G (p.Arg325Gly) c.1342A>G (p.Arg448Gly) c.1141A>G (p.Arg381Gly) c.1378A>G (p.Arg460Gly) c.1069A>G (p.Arg357Gly) | |
X | g.49251687T>G | CA516569860 | FOXP3 | c.1018A>C (p.Arg340=) c.1123A>C (p.Arg375=) c.1192A>C (p.Arg398=) c.1042A>C (p.Arg348=) c.*38A>C (n.*38A>C) c.973A>C (p.Arg325=) c.1342A>C (p.Arg448=) c.1141A>C (p.Arg381=) c.1378A>C (p.Arg460=) c.1069A>C (p.Arg357=) | |
X | g.49251687_49251690delinsTGAA | CA2428551394 | FOXP3 | c.1015_1018delinsTTCA (p.Phe339=) c.1120_1123delinsTTCA (p.Phe374=) c.1189_1192delinsTTCA (p.Phe397=) c.1039_1042delinsTTCA (p.Phe347=) c.*35_*38delinsTTCA (n.*35_*38delinsTTCA) c.970_973delinsTTCA (p.Phe324=) c.1339_1342delinsTTCA (p.Phe447=) c.1138_1141delinsTTCA (p.Phe380=) c.1375_1378delinsTTCA (p.Phe459=) c.1066_1069delinsTTCA (p.Phe356=) | |
X | g.49251688G>A | CA516569861 | FOXP3 | c.1017C>T (p.Phe339=) c.1122C>T (p.Phe374=) c.1191C>T (p.Phe397=) c.1041C>T (p.Phe347=) c.*37C>T (n.*37C>T) c.972C>T (p.Phe324=) c.1341C>T (p.Phe447=) c.1140C>T (p.Phe380=) c.1377C>T (p.Phe459=) c.1068C>T (p.Phe356=) | |
X | g.49251688G>C | CA412948716 | FOXP3 | c.1017C>G (p.Phe339Leu) c.1122C>G (p.Phe374Leu) c.1191C>G (p.Phe397Leu) c.1041C>G (p.Phe347Leu) c.*37C>G (n.*37C>G) c.972C>G (p.Phe324Leu) c.1341C>G (p.Phe447Leu) c.1140C>G (p.Phe380Leu) c.1377C>G (p.Phe459Leu) c.1068C>G (p.Phe356Leu) | |
X | g.49251688G>T | CA412948718 | FOXP3 | c.1017C>A (p.Phe339Leu) c.1122C>A (p.Phe374Leu) c.1191C>A (p.Phe397Leu) c.1041C>A (p.Phe347Leu) c.*37C>A (n.*37C>A) c.972C>A (p.Phe324Leu) c.1341C>A (p.Phe447Leu) c.1140C>A (p.Phe380Leu) c.1377C>A (p.Phe459Leu) c.1068C>A (p.Phe356Leu) | |
X | g.49251692_49251694del | CA2428551395 | FOXP3 | c.1015_1017del (p.Phe339del) c.1120_1122del (p.Phe374del) c.1189_1191del (p.Phe397del) c.1039_1041del (p.Phe347del) c.*35_*37del (n.*35_*37del) c.970_972del (p.Phe324del) c.1339_1341del (p.Phe447del) c.1138_1140del (p.Phe380del) c.1375_1377del (p.Phe459del) c.1066_1068del (p.Phe356del) | ClinVar dbSNP |
X | g.49251689A>C | CA412948721 | FOXP3 | c.1016T>G (p.Phe339Cys) c.1121T>G (p.Phe374Cys) c.1190T>G (p.Phe397Cys) c.1040T>G (p.Phe347Cys) c.*36T>G (n.*36T>G) c.971T>G (p.Phe324Cys) c.1340T>G (p.Phe447Cys) c.1139T>G (p.Phe380Cys) c.1376T>G (p.Phe459Cys) c.1067T>G (p.Phe356Cys) | |
X | g.49251689A>G | CA412948723 | FOXP3 | c.1016T>C (p.Phe339Ser) c.1121T>C (p.Phe374Ser) c.1190T>C (p.Phe397Ser) c.1040T>C (p.Phe347Ser) c.*36T>C (n.*36T>C) c.971T>C (p.Phe324Ser) c.1340T>C (p.Phe447Ser) c.1139T>C (p.Phe380Ser) c.1376T>C (p.Phe459Ser) c.1067T>C (p.Phe356Ser) | |
X | g.49251689A>T | CA412948724 | FOXP3 | c.1016T>A (p.Phe339Tyr) c.1121T>A (p.Phe374Tyr) c.1190T>A (p.Phe397Tyr) c.1040T>A (p.Phe347Tyr) c.*36T>A (n.*36T>A) c.971T>A (p.Phe324Tyr) c.1340T>A (p.Phe447Tyr) c.1139T>A (p.Phe380Tyr) c.1376T>A (p.Phe459Tyr) c.1067T>A (p.Phe356Tyr) | COSMIC |
X | g.49251690A>C | CA412948726 | FOXP3 | c.1015T>G (p.Phe339Val) c.1120T>G (p.Phe374Val) c.1189T>G (p.Phe397Val) c.1039T>G (p.Phe347Val) c.*35T>G (n.*35T>G) c.970T>G (p.Phe324Val) c.1339T>G (p.Phe447Val) c.1138T>G (p.Phe380Val) c.1375T>G (p.Phe459Val) c.1066T>G (p.Phe356Val) | |
X | g.49251690A>G | CA412948728 | FOXP3 | c.1015T>C (p.Phe339Leu) c.1120T>C (p.Phe374Leu) c.1189T>C (p.Phe397Leu) c.1039T>C (p.Phe347Leu) c.*35T>C (n.*35T>C) c.970T>C (p.Phe324Leu) c.1339T>C (p.Phe447Leu) c.1138T>C (p.Phe380Leu) c.1375T>C (p.Phe459Leu) c.1066T>C (p.Phe356Leu) | |
X | g.49251690A>T | CA412948729 | FOXP3 | c.1015T>A (p.Phe339Ile) c.1120T>A (p.Phe374Ile) c.1189T>A (p.Phe397Ile) c.1039T>A (p.Phe347Ile) c.*35T>A (n.*35T>A) c.970T>A (p.Phe324Ile) c.1339T>A (p.Phe447Ile) c.1138T>A (p.Phe380Ile) c.1375T>A (p.Phe459Ile) c.1066T>A (p.Phe356Ile) | |
X | g.49251691G>A | CA516569862 | FOXP3 | c.1014C>T (p.Phe338=) c.1119C>T (p.Phe373=) c.1188C>T (p.Phe396=) c.1038C>T (p.Phe346=) c.*34C>T (n.*34C>T) c.969C>T (p.Phe323=) c.1338C>T (p.Phe446=) c.1137C>T (p.Phe379=) c.1374C>T (p.Phe458=) c.1065C>T (p.Phe355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.49251691G>C | CA412948732 | FOXP3 | c.1014C>G (p.Phe338Leu) c.1119C>G (p.Phe373Leu) c.1188C>G (p.Phe396Leu) c.1038C>G (p.Phe346Leu) c.*34C>G (n.*34C>G) c.969C>G (p.Phe323Leu) c.1338C>G (p.Phe446Leu) c.1137C>G (p.Phe379Leu) c.1374C>G (p.Phe458Leu) c.1065C>G (p.Phe355Leu) | |
X | g.49251691G= | CA2428551396 | FOXP3 | c.1014C= (p.Phe338=) c.1119C= (p.Phe373=) c.1188C= (p.Phe396=) c.1038C= (p.Phe346=) c.*34C= (n.*34C=) c.969C= (p.Phe323=) c.1338C= (p.Phe446=) c.1137C= (p.Phe379=) c.1374C= (p.Phe458=) c.1065C= (p.Phe355=) | |
X | g.49251691G>T | CA412948734 | FOXP3 | c.1014C>A (p.Phe338Leu) c.1119C>A (p.Phe373Leu) c.1188C>A (p.Phe396Leu) c.1038C>A (p.Phe346Leu) c.*34C>A (n.*34C>A) c.969C>A (p.Phe323Leu) c.1338C>A (p.Phe446Leu) c.1137C>A (p.Phe379Leu) c.1374C>A (p.Phe458Leu) c.1065C>A (p.Phe355Leu) | gnomAD v4 |
X | g.49251692A>C | CA412948736 | FOXP3 | c.1013T>G (p.Phe338Cys) c.1118T>G (p.Phe373Cys) c.1187T>G (p.Phe396Cys) c.1037T>G (p.Phe346Cys) c.*33T>G (n.*33T>G) c.968T>G (p.Phe323Cys) c.1337T>G (p.Phe446Cys) c.1136T>G (p.Phe379Cys) c.1373T>G (p.Phe458Cys) c.1064T>G (p.Phe355Cys) | |
X | g.49251692A>G | CA412948741 | FOXP3 | c.1013T>C (p.Phe338Ser) c.1118T>C (p.Phe373Ser) c.1187T>C (p.Phe396Ser) c.1037T>C (p.Phe346Ser) c.*33T>C (n.*33T>C) c.968T>C (p.Phe323Ser) c.1337T>C (p.Phe446Ser) c.1136T>C (p.Phe379Ser) c.1373T>C (p.Phe458Ser) c.1064T>C (p.Phe355Ser) | |
X | g.49251692A>T | CA412948739 | FOXP3 | c.1013T>A (p.Phe338Tyr) c.1118T>A (p.Phe373Tyr) c.1187T>A (p.Phe396Tyr) c.1037T>A (p.Phe346Tyr) c.*33T>A (n.*33T>A) c.968T>A (p.Phe323Tyr) c.1337T>A (p.Phe446Tyr) c.1136T>A (p.Phe379Tyr) c.1373T>A (p.Phe458Tyr) c.1064T>A (p.Phe355Tyr) | |
X | g.49251692_49251693delinsAA | CA2428551397 | FOXP3 | c.1012_1013delinsTT (p.Phe338=) c.1117_1118delinsTT (p.Phe373=) c.1186_1187delinsTT (p.Phe396=) c.1036_1037delinsTT (p.Phe346=) c.*32_*33delinsTT (n.*32_*33delinsTT) c.967_968delinsTT (p.Phe323=) c.1336_1337delinsTT (p.Phe446=) c.1135_1136delinsTT (p.Phe379=) c.1372_1373delinsTT (p.Phe458=) c.1063_1064delinsTT (p.Phe355=) | |
X | g.49251692_49251693delinsGC | CA255865 | FOXP3 | c.1012_1013delinsGC (p.Phe338Ala) c.1117_1118delinsGC (p.Phe373Ala) c.1186_1187delinsGC (p.Phe396Ala) c.1036_1037delinsGC (p.Phe346Ala) c.*32_*33delinsGC (n.*32_*33delinsGC) c.967_968delinsGC (p.Phe323Ala) c.1336_1337delinsGC (p.Phe446Ala) c.1135_1136delinsGC (p.Phe379Ala) c.1372_1373delinsGC (p.Phe458Ala) c.1063_1064delinsGC (p.Phe355Ala) | ClinVar dbSNP |
X | g.49251693A>C | CA412948743 | FOXP3 | c.1012T>G (p.Phe338Val) c.1117T>G (p.Phe373Val) c.1186T>G (p.Phe396Val) c.1036T>G (p.Phe346Val) c.*32T>G (n.*32T>G) c.967T>G (p.Phe323Val) c.1336T>G (p.Phe446Val) c.1135T>G (p.Phe379Val) c.1372T>G (p.Phe458Val) c.1063T>G (p.Phe355Val) | |
X | g.49251693A>G | CA412948744 | FOXP3 | c.1012T>C (p.Phe338Leu) c.1117T>C (p.Phe373Leu) c.1186T>C (p.Phe396Leu) c.1036T>C (p.Phe346Leu) c.*32T>C (n.*32T>C) c.967T>C (p.Phe323Leu) c.1336T>C (p.Phe446Leu) c.1135T>C (p.Phe379Leu) c.1372T>C (p.Phe458Leu) c.1063T>C (p.Phe355Leu) | |
X | g.49251693A>T | CA412948746 | FOXP3 | c.1012T>A (p.Phe338Ile) c.1117T>A (p.Phe373Ile) c.1186T>A (p.Phe396Ile) c.1036T>A (p.Phe346Ile) c.*32T>A (n.*32T>A) c.967T>A (p.Phe323Ile) c.1336T>A (p.Phe446Ile) c.1135T>A (p.Phe379Ile) c.1372T>A (p.Phe458Ile) c.1063T>A (p.Phe355Ile) | |
X | g.49251694G>A | CA516569863 | FOXP3 | c.1011C>T (p.Ala337=) c.1116C>T (p.Ala372=) c.1185C>T (p.Ala395=) c.1035C>T (p.Ala345=) c.*31C>T (n.*31C>T) c.966C>T (p.Ala322=) c.1335C>T (p.Ala445=) c.1134C>T (p.Ala378=) c.1371C>T (p.Ala457=) c.1062C>T (p.Ala354=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49251694G>C | CA516569864 | FOXP3 | c.1011C>G (p.Ala337=) c.1116C>G (p.Ala372=) c.1185C>G (p.Ala395=) c.1035C>G (p.Ala345=) c.*31C>G (n.*31C>G) c.966C>G (p.Ala322=) c.1335C>G (p.Ala445=) c.1134C>G (p.Ala378=) c.1371C>G (p.Ala457=) c.1062C>G (p.Ala354=) | |
X | g.49251694G= | CA2428551398 | FOXP3 | c.1011C= (p.Ala337=) c.1116C= (p.Ala372=) c.1185C= (p.Ala395=) c.1035C= (p.Ala345=) c.*31C= (n.*31C=) c.966C= (p.Ala322=) c.1335C= (p.Ala445=) c.1134C= (p.Ala378=) c.1371C= (p.Ala457=) c.1062C= (p.Ala354=) | |
X | g.49251694G>T | CA516569865 | FOXP3 | c.1011C>A (p.Ala337=) c.1116C>A (p.Ala372=) c.1185C>A (p.Ala395=) c.1035C>A (p.Ala345=) c.*31C>A (n.*31C>A) c.966C>A (p.Ala322=) c.1335C>A (p.Ala445=) c.1134C>A (p.Ala378=) c.1371C>A (p.Ala457=) c.1062C>A (p.Ala354=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.49251695G>A | CA412948749 | FOXP3 | c.1010C>T (p.Ala337Val) c.1115C>T (p.Ala372Val) c.1184C>T (p.Ala395Val) c.1034C>T (p.Ala345Val) c.*30C>T (n.*30C>T) c.965C>T (p.Ala322Val) c.1334C>T (p.Ala445Val) c.1133C>T (p.Ala378Val) c.1370C>T (p.Ala457Val) c.1061C>T (p.Ala354Val) | COSMIC |
X | g.49251695G>C | CA412948752 | FOXP3 | c.1010C>G (p.Ala337Gly) c.1115C>G (p.Ala372Gly) c.1184C>G (p.Ala395Gly) c.1034C>G (p.Ala345Gly) c.*30C>G (n.*30C>G) c.965C>G (p.Ala322Gly) c.1334C>G (p.Ala445Gly) c.1133C>G (p.Ala378Gly) c.1370C>G (p.Ala457Gly) c.1061C>G (p.Ala354Gly) | |
X | g.49251695G>T | CA412948751 | FOXP3 | c.1010C>A (p.Ala337Asp) c.1115C>A (p.Ala372Asp) c.1184C>A (p.Ala395Asp) c.1034C>A (p.Ala345Asp) c.*30C>A (n.*30C>A) c.965C>A (p.Ala322Asp) c.1334C>A (p.Ala445Asp) c.1133C>A (p.Ala378Asp) c.1370C>A (p.Ala457Asp) c.1061C>A (p.Ala354Asp) | gnomAD v4 |
X | g.49251696C>A | CA412948754 | FOXP3 | c.1009G>T (p.Ala337Ser) c.1114G>T (p.Ala372Ser) c.1183G>T (p.Ala395Ser) c.1033G>T (p.Ala345Ser) c.*29G>T (n.*29G>T) c.964G>T (p.Ala322Ser) c.1333G>T (p.Ala445Ser) c.1132G>T (p.Ala378Ser) c.1369G>T (p.Ala457Ser) c.1060G>T (p.Ala354Ser) | |
X | g.49251696C>G | CA412948755 | FOXP3 | c.1009G>C (p.Ala337Pro) c.1114G>C (p.Ala372Pro) c.1183G>C (p.Ala395Pro) c.1033G>C (p.Ala345Pro) c.*29G>C (n.*29G>C) c.964G>C (p.Ala322Pro) c.1333G>C (p.Ala445Pro) c.1132G>C (p.Ala378Pro) c.1369G>C (p.Ala457Pro) c.1060G>C (p.Ala354Pro) | |
X | g.49251696C>T | CA412948757 | FOXP3 | c.1009G>A (p.Ala337Thr) c.1114G>A (p.Ala372Thr) c.1183G>A (p.Ala395Thr) c.1033G>A (p.Ala345Thr) c.*29G>A (n.*29G>A) c.964G>A (p.Ala322Thr) c.1333G>A (p.Ala445Thr) c.1132G>A (p.Ala378Thr) c.1369G>A (p.Ala457Thr) c.1060G>A (p.Ala354Thr) | |
X | g.49251697A>C | CA412948760 | FOXP3 | c.1008T>G (p.Phe336Leu) c.1113T>G (p.Phe371Leu) c.1182T>G (p.Phe394Leu) c.1032T>G (p.Phe344Leu) c.*28T>G (n.*28T>G) c.963T>G (p.Phe321Leu) c.1332T>G (p.Phe444Leu) c.1131T>G (p.Phe377Leu) c.1368T>G (p.Phe456Leu) c.1059T>G (p.Phe353Leu) | |
X | g.49251697A>G | CA516569866 | FOXP3 | c.1008T>C (p.Phe336=) c.1113T>C (p.Phe371=) c.1182T>C (p.Phe394=) c.1032T>C (p.Phe344=) c.*28T>C (n.*28T>C) c.963T>C (p.Phe321=) c.1332T>C (p.Phe444=) c.1131T>C (p.Phe377=) c.1368T>C (p.Phe456=) c.1059T>C (p.Phe353=) | gnomAD v4 |
X | g.49251697A>T | CA412948761 | FOXP3 | c.1008T>A (p.Phe336Leu) c.1113T>A (p.Phe371Leu) c.1182T>A (p.Phe394Leu) c.1032T>A (p.Phe344Leu) c.*28T>A (n.*28T>A) c.963T>A (p.Phe321Leu) c.1332T>A (p.Phe444Leu) c.1131T>A (p.Phe377Leu) c.1368T>A (p.Phe456Leu) c.1059T>A (p.Phe353Leu) | |
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) | |
X | g.49251712C>T | CA412948831 | FOXP3 | c.993G>A (p.Trp331Ter) c.1098G>A (p.Trp366Ter) c.1167G>A (p.Trp389Ter) c.1017G>A (p.Trp339Ter) c.*13G>A (n.*13G>A) c.948G>A (p.Trp316Ter) c.1317G>A (p.Trp439Ter) c.1116G>A (p.Trp372Ter) c.1353G>A (p.Trp451Ter) c.1044G>A (p.Trp348Ter) | |
X | g.49251713C>A | CA412948836 | FOXP3 | c.992G>T (p.Trp331Leu) c.1097G>T (p.Trp366Leu) c.1166G>T (p.Trp389Leu) c.1016G>T (p.Trp339Leu) c.*12G>T (n.*12G>T) c.947G>T (p.Trp316Leu) c.1316G>T (p.Trp439Leu) c.1115G>T (p.Trp372Leu) c.1352G>T (p.Trp451Leu) c.1043G>T (p.Trp348Leu) | |
X | g.49251713C>G | CA412948840 | FOXP3 | c.992G>C (p.Trp331Ser) c.1097G>C (p.Trp366Ser) c.1166G>C (p.Trp389Ser) c.1016G>C (p.Trp339Ser) c.*12G>C (n.*12G>C) c.947G>C (p.Trp316Ser) c.1316G>C (p.Trp439Ser) c.1115G>C (p.Trp372Ser) c.1352G>C (p.Trp451Ser) c.1043G>C (p.Trp348Ser) | |
X | g.49251713C>T | CA412948838 | FOXP3 | c.992G>A (p.Trp331Ter) c.1097G>A (p.Trp366Ter) c.1166G>A (p.Trp389Ter) c.1016G>A (p.Trp339Ter) c.*12G>A (n.*12G>A) c.947G>A (p.Trp316Ter) c.1316G>A (p.Trp439Ter) c.1115G>A (p.Trp372Ter) c.1352G>A (p.Trp451Ter) c.1043G>A (p.Trp348Ter) | |
X | g.49251714A>C | CA412948843 | FOXP3 | c.991T>G (p.Trp331Gly) c.1096T>G (p.Trp366Gly) c.1165T>G (p.Trp389Gly) c.1015T>G (p.Trp339Gly) c.*11T>G (n.*11T>G) c.946T>G (p.Trp316Gly) c.1315T>G (p.Trp439Gly) c.1114T>G (p.Trp372Gly) c.1351T>G (p.Trp451Gly) c.1042T>G (p.Trp348Gly) | |
X | g.49251714A>G | CA412948844 | FOXP3 | c.991T>C (p.Trp331Arg) c.1096T>C (p.Trp366Arg) c.1165T>C (p.Trp389Arg) c.1015T>C (p.Trp339Arg) c.*11T>C (n.*11T>C) c.946T>C (p.Trp316Arg) c.1315T>C (p.Trp439Arg) c.1114T>C (p.Trp372Arg) c.1351T>C (p.Trp451Arg) c.1042T>C (p.Trp348Arg) | |
X | g.49251714A>T | CA412948846 | FOXP3 | c.991T>A (p.Trp331Arg) c.1096T>A (p.Trp366Arg) c.1165T>A (p.Trp389Arg) c.1015T>A (p.Trp339Arg) c.*11T>A (n.*11T>A) c.946T>A (p.Trp316Arg) c.1315T>A (p.Trp439Arg) c.1114T>A (p.Trp372Arg) c.1351T>A (p.Trp451Arg) c.1042T>A (p.Trp348Arg) | |
X | g.49251715G>A | CA516569874 | FOXP3 | c.990C>T (p.His330=) c.1095C>T (p.His365=) c.1164C>T (p.His388=) c.1014C>T (p.His338=) c.*10C>T (n.*10C>T) c.945C>T (p.His315=) c.1314C>T (p.His438=) c.1113C>T (p.His371=) c.1350C>T (p.His450=) c.1041C>T (p.His347=) | |
X | g.49251715G>C | CA412948848 | FOXP3 | c.990C>G (p.His330Gln) c.1095C>G (p.His365Gln) c.1164C>G (p.His388Gln) c.1014C>G (p.His338Gln) c.*10C>G (n.*10C>G) c.945C>G (p.His315Gln) c.1314C>G (p.His438Gln) c.1113C>G (p.His371Gln) c.1350C>G (p.His450Gln) c.1041C>G (p.His347Gln) | |
X | g.49251715G>T | CA412948850 | FOXP3 | c.990C>A (p.His330Gln) c.1095C>A (p.His365Gln) c.1164C>A (p.His388Gln) c.1014C>A (p.His338Gln) c.*10C>A (n.*10C>A) c.945C>A (p.His315Gln) c.1314C>A (p.His438Gln) c.1113C>A (p.His371Gln) c.1350C>A (p.His450Gln) c.1041C>A (p.His347Gln) | |
X | g.49251716T>A | CA412948852 | FOXP3 | c.989A>T (p.His330Leu) c.1094A>T (p.His365Leu) c.1163A>T (p.His388Leu) c.1013A>T (p.His338Leu) c.*9A>T (n.*9A>T) c.944A>T (p.His315Leu) c.1313A>T (p.His438Leu) c.1112A>T (p.His371Leu) c.1349A>T (p.His450Leu) c.1040A>T (p.His347Leu) | |
X | g.49251716T>C | CA412948854 | FOXP3 | c.989A>G (p.His330Arg) c.1094A>G (p.His365Arg) c.1163A>G (p.His388Arg) c.1013A>G (p.His338Arg) c.*9A>G (n.*9A>G) c.944A>G (p.His315Arg) c.1313A>G (p.His438Arg) c.1112A>G (p.His371Arg) c.1349A>G (p.His450Arg) c.1040A>G (p.His347Arg) | |
X | g.49251716T>G | CA412948856 | FOXP3 | c.989A>C (p.His330Pro) c.1094A>C (p.His365Pro) c.1163A>C (p.His388Pro) c.1013A>C (p.His338Pro) c.*9A>C (n.*9A>C) c.944A>C (p.His315Pro) c.1313A>C (p.His438Pro) c.1112A>C (p.His371Pro) c.1349A>C (p.His450Pro) c.1040A>C (p.His347Pro) | |
X | g.49251717G>A | CA412948858 | FOXP3 | c.988C>T (p.His330Tyr) c.1093C>T (p.His365Tyr) c.1162C>T (p.His388Tyr) c.1012C>T (p.His338Tyr) c.*8C>T (n.*8C>T) c.943C>T (p.His315Tyr) c.1312C>T (p.His438Tyr) c.1111C>T (p.His371Tyr) c.1348C>T (p.His450Tyr) c.1039C>T (p.His347Tyr) | |
X | g.49251717G>C | CA412948860 | FOXP3 | c.988C>G (p.His330Asp) c.1093C>G (p.His365Asp) c.1162C>G (p.His388Asp) c.1012C>G (p.His338Asp) c.*8C>G (n.*8C>G) c.943C>G (p.His315Asp) c.1312C>G (p.His438Asp) c.1111C>G (p.His371Asp) c.1348C>G (p.His450Asp) c.1039C>G (p.His347Asp) | |
X | g.49251717G>T | CA412948862 | FOXP3 | c.988C>A (p.His330Asn) c.1093C>A (p.His365Asn) c.1162C>A (p.His388Asn) c.1012C>A (p.His338Asn) c.*8C>A (n.*8C>A) c.943C>A (p.His315Asn) c.1312C>A (p.His438Asn) c.1111C>A (p.His371Asn) c.1348C>A (p.His450Asn) c.1039C>A (p.His347Asn) | |
X | g.49251718del | CA2569527957 | FOXP3 | c.988del (p.His330ThrfsTer25) c.1093del (p.His365ThrfsTer25) c.1162del (p.His388ThrfsTer25) c.1012del (p.His338ThrfsTer25) c.988del (p.His330ThrfsTer19) c.*8del (n.*8del) c.943del (p.His315ThrfsTer19) c.1312del (p.His438ThrfsTer19) c.1111del (p.His371ThrfsTer25) c.1348del (p.His450ThrfsTer25) c.1312del (p.His438ThrfsTer25) c.1039del (p.His347ThrfsTer19) | |
X | g.49251718G>A | CA516569875 | FOXP3 | c.987C>T (p.Tyr329=) c.1092C>T (p.Tyr364=) c.1161C>T (p.Tyr387=) c.1011C>T (p.Tyr337=) c.*7C>T (n.*7C>T) c.942C>T (p.Tyr314=) c.1311C>T (p.Tyr437=) c.1110C>T (p.Tyr370=) c.1347C>T (p.Tyr449=) c.1038C>T (p.Tyr346=) | gnomAD v4 |
X | g.49251718G>C | CA412948864 | FOXP3 | c.987C>G (p.Tyr329Ter) c.1092C>G (p.Tyr364Ter) c.1161C>G (p.Tyr387Ter) c.1011C>G (p.Tyr337Ter) c.*7C>G (n.*7C>G) c.942C>G (p.Tyr314Ter) c.1311C>G (p.Tyr437Ter) c.1110C>G (p.Tyr370Ter) c.1347C>G (p.Tyr449Ter) c.1038C>G (p.Tyr346Ter) | |
X | g.49251718G>T | CA412948866 | FOXP3 | c.987C>A (p.Tyr329Ter) c.1092C>A (p.Tyr364Ter) c.1161C>A (p.Tyr387Ter) c.1011C>A (p.Tyr337Ter) c.*7C>A (n.*7C>A) c.942C>A (p.Tyr314Ter) c.1311C>A (p.Tyr437Ter) c.1110C>A (p.Tyr370Ter) c.1347C>A (p.Tyr449Ter) c.1038C>A (p.Tyr346Ter) | |
X | g.49251719T>A | CA412948868 | FOXP3 | c.986A>T (p.Tyr329Phe) c.1091A>T (p.Tyr364Phe) c.1160A>T (p.Tyr387Phe) c.1010A>T (p.Tyr337Phe) c.*6A>T (n.*6A>T) c.941A>T (p.Tyr314Phe) c.1310A>T (p.Tyr437Phe) c.1109A>T (p.Tyr370Phe) c.1346A>T (p.Tyr449Phe) c.1037A>T (p.Tyr346Phe) | |
X | g.49251719T>C | CA412948872 | FOXP3 | c.986A>G (p.Tyr329Cys) c.1091A>G (p.Tyr364Cys) c.1160A>G (p.Tyr387Cys) c.1010A>G (p.Tyr337Cys) c.*6A>G (n.*6A>G) c.941A>G (p.Tyr314Cys) c.1310A>G (p.Tyr437Cys) c.1109A>G (p.Tyr370Cys) c.1346A>G (p.Tyr449Cys) c.1037A>G (p.Tyr346Cys) | ClinVar |
X | g.49251719T>G | CA412948870 | FOXP3 | c.986A>C (p.Tyr329Ser) c.1091A>C (p.Tyr364Ser) c.1160A>C (p.Tyr387Ser) c.1010A>C (p.Tyr337Ser) c.*6A>C (n.*6A>C) c.941A>C (p.Tyr314Ser) c.1310A>C (p.Tyr437Ser) c.1109A>C (p.Tyr370Ser) c.1346A>C (p.Tyr449Ser) c.1037A>C (p.Tyr346Ser) | |
X | g.49251720A>C | CA412948874 | FOXP3 | c.985T>G (p.Tyr329Asp) c.1090T>G (p.Tyr364Asp) c.1159T>G (p.Tyr387Asp) c.1009T>G (p.Tyr337Asp) c.*5T>G (n.*5T>G) c.940T>G (p.Tyr314Asp) c.1309T>G (p.Tyr437Asp) c.1108T>G (p.Tyr370Asp) c.1345T>G (p.Tyr449Asp) c.1036T>G (p.Tyr346Asp) | |
X | g.49251720A>G | CA412948876 | FOXP3 | c.985T>C (p.Tyr329His) c.1090T>C (p.Tyr364His) c.1159T>C (p.Tyr387His) c.1009T>C (p.Tyr337His) c.*5T>C (n.*5T>C) c.940T>C (p.Tyr314His) c.1309T>C (p.Tyr437His) c.1108T>C (p.Tyr370His) c.1345T>C (p.Tyr449His) c.1036T>C (p.Tyr346His) | |
X | g.49251720A>T | CA412948877 | FOXP3 | c.985T>A (p.Tyr329Asn) c.1090T>A (p.Tyr364Asn) c.1159T>A (p.Tyr387Asn) c.1009T>A (p.Tyr337Asn) c.*5T>A (n.*5T>A) c.940T>A (p.Tyr314Asn) c.1309T>A (p.Tyr437Asn) c.1108T>A (p.Tyr370Asn) c.1345T>A (p.Tyr449Asn) c.1036T>A (p.Tyr346Asn) | |
X | g.49251721G>A | CA516569877 | FOXP3 | c.984C>T (p.Ile328=) c.1089C>T (p.Ile363=) c.1158C>T (p.Ile386=) c.1008C>T (p.Ile336=) c.*4C>T (n.*4C>T) c.939C>T (p.Ile313=) c.1308C>T (p.Ile436=) c.1107C>T (p.Ile369=) c.1344C>T (p.Ile448=) c.1035C>T (p.Ile345=) | |
X | g.49251721G>C | CA412948881 | FOXP3 | c.984C>G (p.Ile328Met) c.1089C>G (p.Ile363Met) c.1158C>G (p.Ile386Met) c.1008C>G (p.Ile336Met) c.*4C>G (n.*4C>G) c.939C>G (p.Ile313Met) c.1308C>G (p.Ile436Met) c.1107C>G (p.Ile369Met) c.1344C>G (p.Ile448Met) c.1035C>G (p.Ile345Met) | |
X | g.49251721G>T | CA516569876 | FOXP3 | c.984C>A (p.Ile328=) c.1089C>A (p.Ile363=) c.1158C>A (p.Ile386=) c.1008C>A (p.Ile336=) c.*4C>A (n.*4C>A) c.939C>A (p.Ile313=) c.1308C>A (p.Ile436=) c.1107C>A (p.Ile369=) c.1344C>A (p.Ile448=) c.1035C>A (p.Ile345=) | |
X | g.49251722A>C | CA412948883 | FOXP3 | c.983T>G (p.Ile328Ser) c.1088T>G (p.Ile363Ser) c.1157T>G (p.Ile386Ser) c.1007T>G (p.Ile336Ser) c.*3T>G (n.*3T>G) c.938T>G (p.Ile313Ser) c.1307T>G (p.Ile436Ser) c.1106T>G (p.Ile369Ser) c.1343T>G (p.Ile448Ser) c.1034T>G (p.Ile345Ser) | |
X | g.49251722A>G | CA412948885 | FOXP3 | c.983T>C (p.Ile328Thr) c.1088T>C (p.Ile363Thr) c.1157T>C (p.Ile386Thr) c.1007T>C (p.Ile336Thr) c.*3T>C (n.*3T>C) c.938T>C (p.Ile313Thr) c.1307T>C (p.Ile436Thr) c.1106T>C (p.Ile369Thr) c.1343T>C (p.Ile448Thr) c.1034T>C (p.Ile345Thr) | |
X | g.49251722A>T | CA412948887 | FOXP3 | c.983T>A (p.Ile328Asn) c.1088T>A (p.Ile363Asn) c.1157T>A (p.Ile386Asn) c.1007T>A (p.Ile336Asn) c.*3T>A (n.*3T>A) c.938T>A (p.Ile313Asn) c.1307T>A (p.Ile436Asn) c.1106T>A (p.Ile369Asn) c.1343T>A (p.Ile448Asn) c.1034T>A (p.Ile345Asn) | |
X | g.49251723T>A | CA412948889 | FOXP3 | c.982A>T (p.Ile328Phe) c.1087A>T (p.Ile363Phe) c.1156A>T (p.Ile386Phe) c.1006A>T (p.Ile336Phe) c.*2A>T (n.*2A>T) c.937A>T (p.Ile313Phe) c.1306A>T (p.Ile436Phe) c.1105A>T (p.Ile369Phe) c.1342A>T (p.Ile448Phe) c.1033A>T (p.Ile345Phe) | |
X | g.49251723T>C | CA412948891 | FOXP3 | c.982A>G (p.Ile328Val) c.1087A>G (p.Ile363Val) c.1156A>G (p.Ile386Val) c.1006A>G (p.Ile336Val) c.*2A>G (n.*2A>G) c.937A>G (p.Ile313Val) c.1306A>G (p.Ile436Val) c.1105A>G (p.Ile369Val) c.1342A>G (p.Ile448Val) c.1033A>G (p.Ile345Val) | ClinVar dbSNP |
X | g.49251723T>G | CA412948893 | FOXP3 | c.982A>C (p.Ile328Leu) c.1087A>C (p.Ile363Leu) c.1156A>C (p.Ile386Leu) c.1006A>C (p.Ile336Leu) c.*2A>C (n.*2A>C) c.937A>C (p.Ile313Leu) c.1306A>C (p.Ile436Leu) c.1105A>C (p.Ile369Leu) c.1342A>C (p.Ile448Leu) c.1033A>C (p.Ile345Leu) | |
X | g.49251724C>A | CA412948897 | FOXP3 | c.981G>T (p.Glu327Asp) c.1086G>T (p.Glu362Asp) c.1155G>T (p.Glu385Asp) c.1005G>T (p.Glu335Asp) c.*1G>T (n.*1G>T) c.936G>T (p.Glu312Asp) c.1305G>T (p.Glu435Asp) c.1104G>T (p.Glu368Asp) c.1341G>T (p.Glu447Asp) c.1032G>T (p.Glu344Asp) | |
X | g.49251724C>G | CA412948895 | FOXP3 | c.981G>C (p.Glu327Asp) c.1086G>C (p.Glu362Asp) c.1155G>C (p.Glu385Asp) c.1005G>C (p.Glu335Asp) c.*1G>C (n.*1G>C) c.936G>C (p.Glu312Asp) c.1305G>C (p.Glu435Asp) c.1104G>C (p.Glu368Asp) c.1341G>C (p.Glu447Asp) c.1032G>C (p.Glu344Asp) | |
X | g.49251724C>T | CA516569878 | FOXP3 | c.981G>A (p.Glu327=) c.1086G>A (p.Glu362=) c.1155G>A (p.Glu385=) c.1005G>A (p.Glu335=) c.*1G>A (n.*1G>A) c.936G>A (p.Glu312=) c.1305G>A (p.Glu435=) c.1104G>A (p.Glu368=) c.1341G>A (p.Glu447=) c.1032G>A (p.Glu344=) | |
X | g.49251725T>A | CA412948900 | FOXP3 | c.980A>T (p.Glu327Val) c.1085A>T (p.Glu362Val) c.1154A>T (p.Glu385Val) c.1004A>T (p.Glu335Val) c.1008A>T (p.Ter336Cys) c.935A>T (p.Glu312Val) c.1304A>T (p.Glu435Val) c.1103A>T (p.Glu368Val) c.1340A>T (p.Glu447Val) c.1031A>T (p.Glu344Val) | |
X | g.49251725T>C | CA412948902 | FOXP3 | c.980A>G (p.Glu327Gly) c.1085A>G (p.Glu362Gly) c.1154A>G (p.Glu385Gly) c.1004A>G (p.Glu335Gly) c.1008A>G (p.Ter336Trp) c.935A>G (p.Glu312Gly) c.1304A>G (p.Glu435Gly) c.1103A>G (p.Glu368Gly) c.1340A>G (p.Glu447Gly) c.1031A>G (p.Glu344Gly) | |
X | g.49251725T>G | CA412948904 | FOXP3 | c.980A>C (p.Glu327Ala) c.1085A>C (p.Glu362Ala) c.1154A>C (p.Glu385Ala) c.1004A>C (p.Glu335Ala) c.1008A>C (p.Ter336Cys) c.935A>C (p.Glu312Ala) c.1304A>C (p.Glu435Ala) c.1103A>C (p.Glu368Ala) c.1340A>C (p.Glu447Ala) c.1031A>C (p.Glu344Ala) | |
X | g.49251726C>A | CA412948906 | FOXP3 | c.979G>T (p.Glu327Ter) c.1084G>T (p.Glu362Ter) c.1153G>T (p.Glu385Ter) c.1003G>T (p.Glu335Ter) c.1007G>T (p.Ter336Leu) c.934G>T (p.Glu312Ter) c.1303G>T (p.Glu435Ter) c.1102G>T (p.Glu368Ter) c.1339G>T (p.Glu447Ter) c.1030G>T (p.Glu344Ter) | |
X | g.49251726C>G | CA412948908 | FOXP3 | c.979G>C (p.Glu327Gln) c.1084G>C (p.Glu362Gln) c.1153G>C (p.Glu385Gln) c.1003G>C (p.Glu335Gln) c.1007G>C (p.Ter336Ser) c.934G>C (p.Glu312Gln) c.1303G>C (p.Glu435Gln) c.1102G>C (p.Glu368Gln) c.1339G>C (p.Glu447Gln) c.1030G>C (p.Glu344Gln) | |
X | g.49251726C>T | CA412948910 | FOXP3 | c.979G>A (p.Glu327Lys) c.1084G>A (p.Glu362Lys) c.1153G>A (p.Glu385Lys) c.1003G>A (p.Glu335Lys) c.1007G>A (p.Ter336=) c.934G>A (p.Glu312Lys) c.1303G>A (p.Glu435Lys) c.1102G>A (p.Glu368Lys) c.1339G>A (p.Glu447Lys) c.1030G>A (p.Glu344Lys) | |
X | g.49251727A= | CA2428551405 | FOXP3 | c.978T= (p.Asn326=) c.1083T= (p.Asn361=) c.1152T= (p.Asn384=) c.1002T= (p.Asn334=) c.1006T= (p.Ter336=) c.933T= (p.Asn311=) c.1302T= (p.Asn434=) c.1101T= (p.Asn367=) c.1338T= (p.Asn446=) c.1029T= (p.Asn343=) | |
X | g.49251727A>C | CA412948914 | FOXP3 | c.978T>G (p.Asn326Lys) c.1083T>G (p.Asn361Lys) c.1152T>G (p.Asn384Lys) c.1002T>G (p.Asn334Lys) c.1006T>G (p.Ter336Gly) c.933T>G (p.Asn311Lys) c.1302T>G (p.Asn434Lys) c.1101T>G (p.Asn367Lys) c.1338T>G (p.Asn446Lys) c.1029T>G (p.Asn343Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49251727A>G | CA516569879 | FOXP3 | c.978T>C (p.Asn326=) c.1083T>C (p.Asn361=) c.1152T>C (p.Asn384=) c.1002T>C (p.Asn334=) c.1006T>C (p.Ter336Arg) c.933T>C (p.Asn311=) c.1302T>C (p.Asn434=) c.1101T>C (p.Asn367=) c.1338T>C (p.Asn446=) c.1029T>C (p.Asn343=) | |
X | g.49251727A>T | CA412948912 | FOXP3 | c.978T>A (p.Asn326Lys) c.1083T>A (p.Asn361Lys) c.1152T>A (p.Asn384Lys) c.1002T>A (p.Asn334Lys) c.1006T>A (p.Ter336Arg) c.933T>A (p.Asn311Lys) c.1302T>A (p.Asn434Lys) c.1101T>A (p.Asn367Lys) c.1338T>A (p.Asn446Lys) c.1029T>A (p.Asn343Lys) | |
X | g.49251728T>A | CA412948916 | FOXP3 | c.977A>T (p.Asn326Ile) c.1082A>T (p.Asn361Ile) c.1151A>T (p.Asn384Ile) c.1001A>T (p.Asn334Ile) c.1005A>T (p.Gln335His) c.932A>T (p.Asn311Ile) c.1301A>T (p.Asn434Ile) c.1100A>T (p.Asn367Ile) c.1337A>T (p.Asn446Ile) c.1028A>T (p.Asn343Ile) | |
X | g.49251728T>C | CA412948919 | FOXP3 | c.977A>G (p.Asn326Ser) c.1082A>G (p.Asn361Ser) c.1151A>G (p.Asn384Ser) c.1001A>G (p.Asn334Ser) c.1005A>G (p.Gln335=) c.932A>G (p.Asn311Ser) c.1301A>G (p.Asn434Ser) c.1100A>G (p.Asn367Ser) c.1337A>G (p.Asn446Ser) c.1028A>G (p.Asn343Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49251728T>G | CA412948921 | FOXP3 | c.977A>C (p.Asn326Thr) c.1082A>C (p.Asn361Thr) c.1151A>C (p.Asn384Thr) c.1001A>C (p.Asn334Thr) c.1005A>C (p.Gln335His) c.932A>C (p.Asn311Thr) c.1301A>C (p.Asn434Thr) c.1100A>C (p.Asn367Thr) c.1337A>C (p.Asn446Thr) c.1028A>C (p.Asn343Thr) | |
X | g.49251728T= | CA2428551406 | FOXP3 | c.977A= (p.Asn326=) c.1082A= (p.Asn361=) c.1151A= (p.Asn384=) c.1001A= (p.Asn334=) c.1005A= (p.Gln335=) c.932A= (p.Asn311=) c.1301A= (p.Asn434=) c.1100A= (p.Asn367=) c.1337A= (p.Asn446=) c.1028A= (p.Asn343=) | |
X | g.49251729dup | CA2695233610 | FOXP3 | c.977dup (p.Asn326LysfsTer2) c.1082dup (p.Asn361LysfsTer2) c.1151dup (p.Asn384LysfsTer2) c.1001dup (p.Asn334LysfsTer2) c.1005dup (p.Ter336MetextTer29) c.932dup (p.Asn311LysfsTer2) c.1301dup (p.Asn434LysfsTer2) c.1100dup (p.Asn367LysfsTer2) c.1337dup (p.Asn446LysfsTer2) c.1028dup (p.Asn343LysfsTer2) | |
X | g.49251729T>A | CA412948924 | FOXP3 | c.976A>T (p.Asn326Tyr) c.1081A>T (p.Asn361Tyr) c.1150A>T (p.Asn384Tyr) c.1000A>T (p.Asn334Tyr) c.1004A>T (p.Gln335Leu) c.931A>T (p.Asn311Tyr) c.1300A>T (p.Asn434Tyr) c.1099A>T (p.Asn367Tyr) c.1336A>T (p.Asn446Tyr) c.1027A>T (p.Asn343Tyr) | |
X | g.49251729T>C | CA412948925 | FOXP3 | c.976A>G (p.Asn326Asp) c.1081A>G (p.Asn361Asp) c.1150A>G (p.Asn384Asp) c.1000A>G (p.Asn334Asp) c.1004A>G (p.Gln335Arg) c.931A>G (p.Asn311Asp) c.1300A>G (p.Asn434Asp) c.1099A>G (p.Asn367Asp) c.1336A>G (p.Asn446Asp) c.1027A>G (p.Asn343Asp) | |
X | g.49251729T>G | CA412948927 | FOXP3 | c.976A>C (p.Asn326His) c.1081A>C (p.Asn361His) c.1150A>C (p.Asn384His) c.1000A>C (p.Asn334His) c.1004A>C (p.Gln335Pro) c.931A>C (p.Asn311His) c.1300A>C (p.Asn434His) c.1099A>C (p.Asn367His) c.1336A>C (p.Asn446His) c.1027A>C (p.Asn343His) | |
X | g.49251730G>A | CA516569880 | FOXP3 | c.975C>T (p.Leu325=) c.1080C>T (p.Leu360=) c.1149C>T (p.Leu383=) c.999C>T (p.Leu333=) c.1003C>T (p.Gln335Ter) c.930C>T (p.Leu310=) c.1299C>T (p.Leu433=) c.1098C>T (p.Leu366=) c.1335C>T (p.Leu445=) c.1026C>T (p.Leu342=) | |
X | g.49251730G>C | CA516569881 | FOXP3 | c.975C>G (p.Leu325=) c.1080C>G (p.Leu360=) c.1149C>G (p.Leu383=) c.999C>G (p.Leu333=) c.1003C>G (p.Gln335Glu) c.930C>G (p.Leu310=) c.1299C>G (p.Leu433=) c.1098C>G (p.Leu366=) c.1335C>G (p.Leu445=) c.1026C>G (p.Leu342=) | ClinVar dbSNP |
X | g.49251730G>T | CA516569882 | FOXP3 | c.975C>A (p.Leu325=) c.1080C>A (p.Leu360=) c.1149C>A (p.Leu383=) c.999C>A (p.Leu333=) c.1003C>A (p.Gln335Lys) c.930C>A (p.Leu310=) c.1299C>A (p.Leu433=) c.1098C>A (p.Leu366=) c.1335C>A (p.Leu445=) c.1026C>A (p.Leu342=) | gnomAD v4 |
X | g.49251731A= | CA2428551407 | FOXP3 | c.974T= (p.Leu325=) c.1079T= (p.Leu360=) c.1148T= (p.Leu383=) c.998T= (p.Leu333=) c.1002T= (p.Thr334=) c.929T= (p.Leu310=) c.1298T= (p.Leu433=) c.1097T= (p.Leu366=) c.1334T= (p.Leu445=) c.1025T= (p.Leu342=) | |
X | g.49251731A>C | CA412948930 | FOXP3 | c.974T>G (p.Leu325Arg) c.1079T>G (p.Leu360Arg) c.1148T>G (p.Leu383Arg) c.998T>G (p.Leu333Arg) c.1002T>G (p.Thr334=) c.929T>G (p.Leu310Arg) c.1298T>G (p.Leu433Arg) c.1097T>G (p.Leu366Arg) c.1334T>G (p.Leu445Arg) c.1025T>G (p.Leu342Arg) | |
X | g.49251731A>G | CA412948932 | FOXP3 | c.974T>C (p.Leu325Pro) c.1079T>C (p.Leu360Pro) c.1148T>C (p.Leu383Pro) c.998T>C (p.Leu333Pro) c.1002T>C (p.Thr334=) c.929T>C (p.Leu310Pro) c.1298T>C (p.Leu433Pro) c.1097T>C (p.Leu366Pro) c.1334T>C (p.Leu445Pro) c.1025T>C (p.Leu342Pro) | ClinVar dbSNP |
X | g.49251731A>T | CA412948931 | FOXP3 | c.974T>A (p.Leu325His) c.1079T>A (p.Leu360His) c.1148T>A (p.Leu383His) c.998T>A (p.Leu333His) c.1002T>A (p.Thr334=) c.929T>A (p.Leu310His) c.1298T>A (p.Leu433His) c.1097T>A (p.Leu366His) c.1334T>A (p.Leu445His) c.1025T>A (p.Leu342His) | |
X | g.49251732G>A | CA412948935 | FOXP3 | c.973C>T (p.Leu325Phe) c.1078C>T (p.Leu360Phe) c.1147C>T (p.Leu383Phe) c.997C>T (p.Leu333Phe) c.1001C>T (p.Thr334Ile) c.928C>T (p.Leu310Phe) c.1297C>T (p.Leu433Phe) c.1096C>T (p.Leu366Phe) c.1333C>T (p.Leu445Phe) c.1024C>T (p.Leu342Phe) | |
X | g.49251732G>C | CA412948937 | FOXP3 | c.973C>G (p.Leu325Val) c.1078C>G (p.Leu360Val) c.1147C>G (p.Leu383Val) c.997C>G (p.Leu333Val) c.1001C>G (p.Thr334Ser) c.928C>G (p.Leu310Val) c.1297C>G (p.Leu433Val) c.1096C>G (p.Leu366Val) c.1333C>G (p.Leu445Val) c.1024C>G (p.Leu342Val) | |
X | g.49251732G>T | CA412948938 | FOXP3 | c.973C>A (p.Leu325Ile) c.1078C>A (p.Leu360Ile) c.1147C>A (p.Leu383Ile) c.997C>A (p.Leu333Ile) c.1001C>A (p.Thr334Asn) c.928C>A (p.Leu310Ile) c.1297C>A (p.Leu433Ile) c.1096C>A (p.Leu366Ile) c.1333C>A (p.Leu445Ile) c.1024C>A (p.Leu342Ile) | |
X | g.49251733T>A | CA516569883 | FOXP3 | c.972A>T (p.Thr324=) c.1077A>T (p.Thr359=) c.1146A>T (p.Thr382=) c.996A>T (p.Thr332=) c.1000A>T (p.Thr334Ser) c.927A>T (p.Thr309=) c.1296A>T (p.Thr432=) c.1095A>T (p.Thr365=) c.1332A>T (p.Thr444=) c.1023A>T (p.Thr341=) | |
X | g.49251733T>C | CA516569884 | FOXP3 | c.972A>G (p.Thr324=) c.1077A>G (p.Thr359=) c.1146A>G (p.Thr382=) c.996A>G (p.Thr332=) c.1000A>G (p.Thr334Ala) c.927A>G (p.Thr309=) c.1296A>G (p.Thr432=) c.1095A>G (p.Thr365=) c.1332A>G (p.Thr444=) c.1023A>G (p.Thr341=) | |
X | g.49251733T>G | CA516569885 | FOXP3 | c.972A>C (p.Thr324=) c.1077A>C (p.Thr359=) c.1146A>C (p.Thr382=) c.996A>C (p.Thr332=) c.1000A>C (p.Thr334Pro) c.927A>C (p.Thr309=) c.1296A>C (p.Thr432=) c.1095A>C (p.Thr365=) c.1332A>C (p.Thr444=) c.1023A>C (p.Thr341=) | |
X | g.49251734G>A | CA16621429 | FOXP3 | c.971C>T (p.Thr324Ile) c.1076C>T (p.Thr359Ile) c.1145C>T (p.Thr382Ile) c.995C>T (p.Thr332Ile) c.999C>T (p.Asp333=) c.926C>T (p.Thr309Ile) c.1295C>T (p.Thr432Ile) c.1094C>T (p.Thr365Ile) c.1331C>T (p.Thr444Ile) c.1022C>T (p.Thr341Ile) | ClinVar dbSNP |
X | g.49251734G>C | CA412948942 | FOXP3 | c.971C>G (p.Thr324Arg) c.1076C>G (p.Thr359Arg) c.1145C>G (p.Thr382Arg) c.995C>G (p.Thr332Arg) c.999C>G (p.Asp333Glu) c.926C>G (p.Thr309Arg) c.1295C>G (p.Thr432Arg) c.1094C>G (p.Thr365Arg) c.1331C>G (p.Thr444Arg) c.1022C>G (p.Thr341Arg) | |
X | g.49251734G= | CA2428551408 | FOXP3 | c.971C= (p.Thr324=) c.1076C= (p.Thr359=) c.1145C= (p.Thr382=) c.995C= (p.Thr332=) c.999C= (p.Asp333=) c.926C= (p.Thr309=) c.1295C= (p.Thr432=) c.1094C= (p.Thr365=) c.1331C= (p.Thr444=) c.1022C= (p.Thr341=) | |
X | g.49251734G>T | CA412948944 | FOXP3 | c.971C>A (p.Thr324Lys) c.1076C>A (p.Thr359Lys) c.1145C>A (p.Thr382Lys) c.995C>A (p.Thr332Lys) c.999C>A (p.Asp333Glu) c.926C>A (p.Thr309Lys) c.1295C>A (p.Thr432Lys) c.1094C>A (p.Thr365Lys) c.1331C>A (p.Thr444Lys) c.1022C>A (p.Thr341Lys) |