Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.47744749A=CA2262810692TBX21c.991A= (p.Met331=)
c.1054A= (p.Met352=)
c.658A= (p.Met220=)
17g.47744749A>CCA8626430TBX21c.991A>C (p.Met331Leu)
c.1054A>C (p.Met352Leu)
c.658A>C (p.Met220Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744749A>GCA400049895TBX21c.991A>G (p.Met331Val)
c.1054A>G (p.Met352Val)
c.658A>G (p.Met220Val)
 dbSNP gnomAD v3 gnomAD v4
17g.47744749A>TCA400049898TBX21c.991A>T (p.Met331Leu)
c.1054A>T (p.Met352Leu)
c.658A>T (p.Met220Leu)
 gnomAD v4
17g.47744750T>ACA400049901TBX21c.992T>A (p.Met331Lys)
c.1055T>A (p.Met352Lys)
c.659T>A (p.Met220Lys)
17g.47744750T>CCA8626431TBX21c.992T>C (p.Met331Thr)
c.1055T>C (p.Met352Thr)
c.659T>C (p.Met220Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47744750T>GCA400049912TBX21c.992T>G (p.Met331Arg)
c.1055T>G (p.Met352Arg)
c.659T>G (p.Met220Arg)
17g.47744750T=CA2262810693TBX21c.992T= (p.Met331=)
c.1055T= (p.Met352=)
c.659T= (p.Met220=)
17g.47744751G>ACA8626432TBX21c.993G>A (p.Met331Ile)
c.1056G>A (p.Met352Ile)
c.660G>A (p.Met220Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744751G>CCA400049933TBX21c.993G>C (p.Met331Ile)
c.1056G>C (p.Met352Ile)
c.660G>C (p.Met220Ile)
17g.47744751G=CA2262810694TBX21c.993G= (p.Met331=)
c.1056G= (p.Met352=)
c.660G= (p.Met220=)
17g.47744751G>TCA400049937TBX21c.993G>T (p.Met331Ile)
c.1056G>T (p.Met352Ile)
c.660G>T (p.Met220Ile)
17g.47744752T>ACA400049955TBX21c.994T>A (p.Tyr332Asn)
c.1057T>A (p.Tyr353Asn)
c.661T>A (p.Tyr221Asn)
17g.47744752T>CCA8626433TBX21c.994T>C (p.Tyr332His)
c.1057T>C (p.Tyr353His)
c.661T>C (p.Tyr221His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744752T>GCA400049952TBX21c.994T>G (p.Tyr332Asp)
c.1057T>G (p.Tyr353Asp)
c.661T>G (p.Tyr221Asp)
 gnomAD v4
17g.47744752T=CA2262810695TBX21c.994T= (p.Tyr332=)
c.1057T= (p.Tyr353=)
c.661T= (p.Tyr221=)
17g.47744753A=CA2262810696TBX21c.995A= (p.Tyr332=)
c.1058A= (p.Tyr353=)
c.662A= (p.Tyr221=)
17g.47744753A>CCA400049960TBX21c.995A>C (p.Tyr332Ser)
c.1058A>C (p.Tyr353Ser)
c.662A>C (p.Tyr221Ser)
17g.47744753A>GCA400049965TBX21c.995A>G (p.Tyr332Cys)
c.1058A>G (p.Tyr353Cys)
c.662A>G (p.Tyr221Cys)
17g.47744753A>TCA8626434TBX21c.995A>T (p.Tyr332Phe)
c.1058A>T (p.Tyr353Phe)
c.662A>T (p.Tyr221Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47744754C>ACA400049972TBX21c.996C>A (p.Tyr332Ter)
c.1059C>A (p.Tyr353Ter)
c.663C>A (p.Tyr221Ter)
17g.47744754C=CA2262810697TBX21c.996C= (p.Tyr332=)
c.1059C= (p.Tyr353=)
c.663C= (p.Tyr221=)
17g.47744754C>GCA400049974TBX21c.996C>G (p.Tyr332Ter)
c.1059C>G (p.Tyr353Ter)
c.663C>G (p.Tyr221Ter)
17g.47744754C>TCA500450683TBX21c.996C>T (p.Tyr332=)
c.1059C>T (p.Tyr353=)
c.663C>T (p.Tyr221=)
 dbSNP gnomAD v4
17g.47744755A>CCA400049980TBX21c.997A>C (p.Thr333Pro)
c.1060A>C (p.Thr354Pro)
c.664A>C (p.Thr222Pro)
17g.47744755A>GCA400049983TBX21c.997A>G (p.Thr333Ala)
c.1060A>G (p.Thr354Ala)
c.664A>G (p.Thr222Ala)
 gnomAD v4
17g.47744755A>TCA400049985TBX21c.997A>T (p.Thr333Ser)
c.1060A>T (p.Thr354Ser)
c.664A>T (p.Thr222Ser)
17g.47744756C>ACA400049988TBX21c.998C>A (p.Thr333Lys)
c.1061C>A (p.Thr354Lys)
c.665C>A (p.Thr222Lys)
17g.47744756C>GCA400049990TBX21c.998C>G (p.Thr333Arg)
c.1061C>G (p.Thr354Arg)
c.665C>G (p.Thr222Arg)
17g.47744756C>TCA400049995TBX21c.998C>T (p.Thr333Ile)
c.1061C>T (p.Thr354Ile)
c.665C>T (p.Thr222Ile)
17g.47744757A>CCA500450684TBX21c.999A>C (p.Thr333=)
c.1062A>C (p.Thr354=)
c.666A>C (p.Thr222=)
17g.47744757A>GCA500450685TBX21c.999A>G (p.Thr333=)
c.1062A>G (p.Thr354=)
c.666A>G (p.Thr222=)
 gnomAD v4
17g.47744757A>TCA500450686TBX21c.999A>T (p.Thr333=)
c.1062A>T (p.Thr354=)
c.666A>T (p.Thr222=)
 gnomAD v4
17g.47744758T>ACA400050000TBX21c.1000T>A (p.Ser334Thr)
c.1063T>A (p.Ser355Thr)
c.667T>A (p.Ser223Thr)
17g.47744758T>CCA400050002TBX21c.1000T>C (p.Ser334Pro)
c.1063T>C (p.Ser355Pro)
c.667T>C (p.Ser223Pro)
17g.47744758T>GCA400049996TBX21c.1000T>G (p.Ser334Ala)
c.1063T>G (p.Ser355Ala)
c.667T>G (p.Ser223Ala)
17g.47744759C>ACA400050007TBX21c.1001C>A (p.Ser334Tyr)
c.1064C>A (p.Ser355Tyr)
c.668C>A (p.Ser223Tyr)
17g.47744759C>GCA400050010TBX21c.1001C>G (p.Ser334Cys)
c.1064C>G (p.Ser355Cys)
c.668C>G (p.Ser223Cys)
17g.47744759C>TCA400050015TBX21c.1001C>T (p.Ser334Phe)
c.1064C>T (p.Ser355Phe)
c.668C>T (p.Ser223Phe)
17g.47744760T>ACA500450687TBX21c.1002T>A (p.Ser334=)
c.1065T>A (p.Ser355=)
c.669T>A (p.Ser223=)
17g.47744760T>CCA500450688TBX21c.1002T>C (p.Ser334=)
c.1065T>C (p.Ser355=)
c.669T>C (p.Ser223=)
17g.47744760T>GCA500450689TBX21c.1002T>G (p.Ser334=)
c.1065T>G (p.Ser355=)
c.669T>G (p.Ser223=)
17g.47744761G>ACA400050020TBX21c.1003G>A (p.Val335Ile)
c.1066G>A (p.Val356Ile)
c.670G>A (p.Val224Ile)
 gnomAD v4
17g.47744761G>CCA400050024TBX21c.1003G>C (p.Val335Leu)
c.1066G>C (p.Val356Leu)
c.670G>C (p.Val224Leu)
17g.47744761G>TCA400050027TBX21c.1003G>T (p.Val335Phe)
c.1066G>T (p.Val356Phe)
c.670G>T (p.Val224Phe)
17g.47744762T>ACA400050031TBX21c.1004T>A (p.Val335Asp)
c.1067T>A (p.Val356Asp)
c.671T>A (p.Val224Asp)
17g.47744762T>CCA400050034TBX21c.1004T>C (p.Val335Ala)
c.1067T>C (p.Val356Ala)
c.671T>C (p.Val224Ala)
17g.47744762T>GCA400050035TBX21c.1004T>G (p.Val335Gly)
c.1067T>G (p.Val356Gly)
c.671T>G (p.Val224Gly)
17g.47744763T>ACA500450693TBX21c.1005T>A (p.Val335=)
c.1068T>A (p.Val356=)
c.672T>A (p.Val224=)
17g.47744763T>CCA500450695TBX21c.1005T>C (p.Val335=)
c.1068T>C (p.Val356=)
c.672T>C (p.Val224=)
17g.47744763T>GCA500450696TBX21c.1005T>G (p.Val335=)
c.1068T>G (p.Val356=)
c.672T>G (p.Val224=)
17g.47744764G>ACA8626435TBX21c.1006G>A (p.Asp336Asn)
c.1069G>A (p.Asp357Asn)
c.673G>A (p.Asp225Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47744764G>CCA400050041TBX21c.1006G>C (p.Asp336His)
c.1069G>C (p.Asp357His)
c.673G>C (p.Asp225His)
17g.47744764G=CA2262810698TBX21c.1006G= (p.Asp336=)
c.1069G= (p.Asp357=)
c.673G= (p.Asp225=)
17g.47744764G>TCA400050044TBX21c.1006G>T (p.Asp336Tyr)
c.1069G>T (p.Asp357Tyr)
c.673G>T (p.Asp225Tyr)
17g.47744765A>CCA400050053TBX21c.1007A>C (p.Asp336Ala)
c.1070A>C (p.Asp357Ala)
c.674A>C (p.Asp225Ala)
17g.47744765A>GCA400050057TBX21c.1007A>G (p.Asp336Gly)
c.1070A>G (p.Asp357Gly)
c.674A>G (p.Asp225Gly)
17g.47744765A>TCA400050050TBX21c.1007A>T (p.Asp336Val)
c.1070A>T (p.Asp357Val)
c.674A>T (p.Asp225Val)
17g.47744766C>ACA400050061TBX21c.1008C>A (p.Asp336Glu)
c.1071C>A (p.Asp357Glu)
c.675C>A (p.Asp225Glu)
17g.47744766C>GCA400050065TBX21c.1008C>G (p.Asp336Glu)
c.1071C>G (p.Asp357Glu)
c.675C>G (p.Asp225Glu)
17g.47744766C>TCA500450701TBX21c.1008C>T (p.Asp336=)
c.1071C>T (p.Asp357=)
c.675C>T (p.Asp225=)
17g.47744767A>CCA400050069TBX21c.1009A>C (p.Thr337Pro)
c.1072A>C (p.Thr358Pro)
c.676A>C (p.Thr226Pro)
17g.47744767A>GCA400050070TBX21c.1009A>G (p.Thr337Ala)
c.1072A>G (p.Thr358Ala)
c.676A>G (p.Thr226Ala)
17g.47744767A>TCA400050073TBX21c.1009A>T (p.Thr337Ser)
c.1072A>T (p.Thr358Ser)
c.676A>T (p.Thr226Ser)
17g.47744768C>ACA400050078TBX21c.1010C>A (p.Thr337Asn)
c.1073C>A (p.Thr358Asn)
c.677C>A (p.Thr226Asn)
17g.47744768C>GCA400050074TBX21c.1010C>G (p.Thr337Ser)
c.1073C>G (p.Thr358Ser)
c.677C>G (p.Thr226Ser)
17g.47744768C>TCA400050075TBX21c.1010C>T (p.Thr337Ile)
c.1073C>T (p.Thr358Ile)
c.677C>T (p.Thr226Ile)
17g.47744769C>ACA500450711TBX21c.1011C>A (p.Thr337=)
c.1074C>A (p.Thr358=)
c.678C>A (p.Thr226=)
17g.47744769C>GCA500450708TBX21c.1011C>G (p.Thr337=)
c.1074C>G (p.Thr358=)
c.678C>G (p.Thr226=)
17g.47744769C>TCA500450709TBX21c.1011C>T (p.Thr337=)
c.1074C>T (p.Thr358=)
c.678C>T (p.Thr226=)
17g.47744770A>CCA400050084TBX21c.1012A>C (p.Ser338Arg)
c.1075A>C (p.Ser359Arg)
c.679A>C (p.Ser227Arg)
17g.47744770A>GCA400050087TBX21c.1012A>G (p.Ser338Gly)
c.1075A>G (p.Ser359Gly)
c.679A>G (p.Ser227Gly)
17g.47744770A>TCA400050088TBX21c.1012A>T (p.Ser338Cys)
c.1075A>T (p.Ser359Cys)
c.679A>T (p.Ser227Cys)
17g.47744771G>ACA400050091TBX21c.1013G>A (p.Ser338Asn)
c.1076G>A (p.Ser359Asn)
c.680G>A (p.Ser227Asn)
 gnomAD v4
17g.47744771G>CCA400050092TBX21c.1013G>C (p.Ser338Thr)
c.1076G>C (p.Ser359Thr)
c.680G>C (p.Ser227Thr)
17g.47744771G>TCA400050095TBX21c.1013G>T (p.Ser338Ile)
c.1076G>T (p.Ser359Ile)
c.680G>T (p.Ser227Ile)
 gnomAD v4
17g.47744772C>ACA400050101TBX21c.1014C>A (p.Ser338Arg)
c.1077C>A (p.Ser359Arg)
c.681C>A (p.Ser227Arg)
17g.47744772C=CA2262810699TBX21c.1014C= (p.Ser338=)
c.1077C= (p.Ser359=)
c.681C= (p.Ser227=)
17g.47744772C>GCA400050104TBX21c.1014C>G (p.Ser338Arg)
c.1077C>G (p.Ser359Arg)
c.681C>G (p.Ser227Arg)
17g.47744772C>TCA500450719TBX21c.1014C>T (p.Ser338=)
c.1077C>T (p.Ser359=)
c.681C>T (p.Ser227=)
 dbSNP gnomAD v3 gnomAD v4
17g.47744773A=CA2262810700TBX21c.1015A= (p.Ile339=)
c.1078A= (p.Ile360=)
c.682A= (p.Ile228=)
17g.47744773A>CCA400050108TBX21c.1015A>C (p.Ile339Leu)
c.1078A>C (p.Ile360Leu)
c.682A>C (p.Ile228Leu)
17g.47744773A>GCA8626436TBX21c.1015A>G (p.Ile339Val)
c.1078A>G (p.Ile360Val)
c.682A>G (p.Ile228Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744773A>TCA400050119TBX21c.1015A>T (p.Ile339Phe)
c.1078A>T (p.Ile360Phe)
c.682A>T (p.Ile228Phe)
17g.47744774T>ACA400050130TBX21c.1016T>A (p.Ile339Asn)
c.1079T>A (p.Ile360Asn)
c.683T>A (p.Ile228Asn)
17g.47744774T>CCA400050137TBX21c.1016T>C (p.Ile339Thr)
c.1079T>C (p.Ile360Thr)
c.683T>C (p.Ile228Thr)
17g.47744774T>GCA400050133TBX21c.1016T>G (p.Ile339Ser)
c.1079T>G (p.Ile360Ser)
c.683T>G (p.Ile228Ser)
17g.47744775C>ACA8626437TBX21c.1017C>A (p.Ile339=)
c.1080C>A (p.Ile360=)
c.684C>A (p.Ile228=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.47744775C=CA2262810701TBX21c.1017C= (p.Ile339=)
c.1080C= (p.Ile360=)
c.684C= (p.Ile228=)
17g.47744775C>GCA400050142TBX21c.1017C>G (p.Ile339Met)
c.1080C>G (p.Ile360Met)
c.684C>G (p.Ile228Met)
17g.47744775C>TCA500450730TBX21c.1017C>T (p.Ile339=)
c.1080C>T (p.Ile360=)
c.684C>T (p.Ile228=)
 dbSNP gnomAD v3 gnomAD v4
17g.47744776C>ACA400050146TBX21c.1018C>A (p.Pro340Thr)
c.1081C>A (p.Pro361Thr)
c.685C>A (p.Pro229Thr)
 gnomAD v4
17g.47744776C=CA2262810702TBX21c.1018C= (p.Pro340=)
c.1081C= (p.Pro361=)
c.685C= (p.Pro229=)
17g.47744776C>GCA400050150TBX21c.1018C>G (p.Pro340Ala)
c.1081C>G (p.Pro361Ala)
c.685C>G (p.Pro229Ala)
17g.47744776C>TCA8626438TBX21c.1018C>T (p.Pro340Ser)
c.1081C>T (p.Pro361Ser)
c.685C>T (p.Pro229Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744777C>ACA400050158TBX21c.1019C>A (p.Pro340His)
c.1082C>A (p.Pro361His)
c.686C>A (p.Pro229His)
17g.47744777C>GCA400050160TBX21c.1019C>G (p.Pro340Arg)
c.1082C>G (p.Pro361Arg)
c.686C>G (p.Pro229Arg)
17g.47744777C>TCA400050164TBX21c.1019C>T (p.Pro340Leu)
c.1082C>T (p.Pro361Leu)
c.686C>T (p.Pro229Leu)
17g.47744778C>ACA500450737TBX21c.1020C>A (p.Pro340=)
c.1083C>A (p.Pro361=)
c.687C>A (p.Pro229=)
17g.47744778C=CA2262810703TBX21c.1020C= (p.Pro340=)
c.1083C= (p.Pro361=)
c.687C= (p.Pro229=)
17g.47744778C>GCA500450739TBX21c.1020C>G (p.Pro340=)
c.1083C>G (p.Pro361=)
c.687C>G (p.Pro229=)
17g.47744778C>TCA500450740TBX21c.1020C>T (p.Pro340=)
c.1083C>T (p.Pro361=)
c.687C>T (p.Pro229=)
 dbSNP gnomAD v2
17g.47744779T>ACA400050169TBX21c.1021T>A (p.Ser341Thr)
c.1084T>A (p.Ser362Thr)
c.688T>A (p.Ser230Thr)
17g.47744779T>CCA400050172TBX21c.1021T>C (p.Ser341Pro)
c.1084T>C (p.Ser362Pro)
c.688T>C (p.Ser230Pro)
17g.47744779T>GCA400050175TBX21c.1021T>G (p.Ser341Ala)
c.1084T>G (p.Ser362Ala)
c.688T>G (p.Ser230Ala)
17g.47744780C>ACA400050186TBX21c.1022C>A (p.Ser341Tyr)
c.1085C>A (p.Ser362Tyr)
c.689C>A (p.Ser230Tyr)
17g.47744780C>GCA400050180TBX21c.1022C>G (p.Ser341Cys)
c.1085C>G (p.Ser362Cys)
c.689C>G (p.Ser230Cys)
17g.47744780C>TCA400050183TBX21c.1022C>T (p.Ser341Phe)
c.1085C>T (p.Ser362Phe)
c.689C>T (p.Ser230Phe)
17g.47744781C>ACA500450751TBX21c.1023C>A (p.Ser341=)
c.1086C>A (p.Ser362=)
c.690C>A (p.Ser230=)
17g.47744781C=CA2262810704TBX21c.1023C= (p.Ser341=)
c.1086C= (p.Ser362=)
c.690C= (p.Ser230=)
17g.47744781C>GCA500450747TBX21c.1023C>G (p.Ser341=)
c.1086C>G (p.Ser362=)
c.690C>G (p.Ser230=)
17g.47744781C>TCA500450749TBX21c.1023C>T (p.Ser341=)
c.1086C>T (p.Ser362=)
c.690C>T (p.Ser230=)
 dbSNP
17g.47744782C>ACA400050189TBX21c.1024C>A (p.Pro342Thr)
c.1087C>A (p.Pro363Thr)
c.691C>A (p.Pro231Thr)
17g.47744782C>GCA400050192TBX21c.1024C>G (p.Pro342Ala)
c.1087C>G (p.Pro363Ala)
c.691C>G (p.Pro231Ala)
17g.47744782C>TCA400050195TBX21c.1024C>T (p.Pro342Ser)
c.1087C>T (p.Pro363Ser)
c.691C>T (p.Pro231Ser)
17g.47744783C>ACA400050199TBX21c.1025C>A (p.Pro342Gln)
c.1088C>A (p.Pro363Gln)
c.692C>A (p.Pro231Gln)
17g.47744783C=CA2262810705TBX21c.1025C= (p.Pro342=)
c.1088C= (p.Pro363=)
c.692C= (p.Pro231=)
17g.47744783C>GCA8626439TBX21c.1025C>G (p.Pro342Arg)
c.1088C>G (p.Pro363Arg)
c.692C>G (p.Pro231Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47744783C>TCA8626440TBX21c.1025C>T (p.Pro342Leu)
c.1088C>T (p.Pro363Leu)
c.692C>T (p.Pro231Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744784G>ACA8626441TBX21c.1026G>A (p.Pro342=)
c.1089G>A (p.Pro363=)
c.693G>A (p.Pro231=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744784G>CCA500450760TBX21c.1026G>C (p.Pro342=)
c.1089G>C (p.Pro363=)
c.693G>C (p.Pro231=)
17g.47744784G=CA2262810706TBX21c.1026G= (p.Pro342=)
c.1089G= (p.Pro363=)
c.693G= (p.Pro231=)
17g.47744784G>TCA500450761TBX21c.1026G>T (p.Pro342=)
c.1089G>T (p.Pro363=)
c.693G>T (p.Pro231=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47744785C>ACA400050217TBX21c.1027C>A (p.Pro343Thr)
c.1090C>A (p.Pro364Thr)
c.694C>A (p.Pro232Thr)
 gnomAD v4
17g.47744785C>GCA400050220TBX21c.1027C>G (p.Pro343Ala)
c.1090C>G (p.Pro364Ala)
c.694C>G (p.Pro232Ala)
17g.47744785C>TCA400050223TBX21c.1027C>T (p.Pro343Ser)
c.1090C>T (p.Pro364Ser)
c.694C>T (p.Pro232Ser)
17g.47744786C>ACA400050228TBX21c.1028C>A (p.Pro343His)
c.1091C>A (p.Pro364His)
c.695C>A (p.Pro232His)
17g.47744786C=CA2262810707TBX21c.1028C= (p.Pro343=)
c.1091C= (p.Pro364=)
c.695C= (p.Pro232=)
17g.47744786C>GCA400050230TBX21c.1028C>G (p.Pro343Arg)
c.1091C>G (p.Pro364Arg)
c.695C>G (p.Pro232Arg)
17g.47744786C>TCA8626442TBX21c.1028C>T (p.Pro343Leu)
c.1091C>T (p.Pro364Leu)
c.695C>T (p.Pro232Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744787T>ACA500450771TBX21c.1029T>A (p.Pro343=)
c.1092T>A (p.Pro364=)
c.696T>A (p.Pro232=)
17g.47744787T>CCA500450772TBX21c.1029T>C (p.Pro343=)
c.1092T>C (p.Pro364=)
c.696T>C (p.Pro232=)
17g.47744787T>GCA500450774TBX21c.1029T>G (p.Pro343=)
c.1092T>G (p.Pro364=)
c.696T>G (p.Pro232=)
17g.47744788G>ACA400050234TBX21c.1030G>A (p.Gly344Arg)
c.1093G>A (p.Gly365Arg)
c.697G>A (p.Gly233Arg)
 COSMIC
17g.47744788G>CCA400050236TBX21c.1030G>C (p.Gly344Arg)
c.1093G>C (p.Gly365Arg)
c.697G>C (p.Gly233Arg)
17g.47744788G>TCA400050239TBX21c.1030G>T (p.Gly344Ter)
c.1093G>T (p.Gly365Ter)
c.697G>T (p.Gly233Ter)
17g.47744789G>ACA400050241TBX21c.1031G>A (p.Gly344Glu)
c.1094G>A (p.Gly365Glu)
c.698G>A (p.Gly233Glu)
17g.47744789G>CCA400050243TBX21c.1031G>C (p.Gly344Ala)
c.1094G>C (p.Gly365Ala)
c.698G>C (p.Gly233Ala)
17g.47744789G>TCA400050246TBX21c.1031G>T (p.Gly344Val)
c.1094G>T (p.Gly365Val)
c.698G>T (p.Gly233Val)
17g.47744790A>CCA500450781TBX21c.1032A>C (p.Gly344=)
c.1095A>C (p.Gly365=)
c.699A>C (p.Gly233=)
17g.47744790A>GCA500450784TBX21c.1032A>G (p.Gly344=)
c.1095A>G (p.Gly365=)
c.699A>G (p.Gly233=)
17g.47744790A>TCA500450782TBX21c.1032A>T (p.Gly344=)
c.1095A>T (p.Gly365=)
c.699A>T (p.Gly233=)
 gnomAD v4
17g.47744791C>ACA400050250TBX21c.1033C>A (p.Pro345Thr)
c.1096C>A (p.Pro366Thr)
c.700C>A (p.Pro234Thr)
17g.47744791C>GCA400050252TBX21c.1033C>G (p.Pro345Ala)
c.1096C>G (p.Pro366Ala)
c.700C>G (p.Pro234Ala)
17g.47744791C>TCA400050255TBX21c.1033C>T (p.Pro345Ser)
c.1096C>T (p.Pro366Ser)
c.700C>T (p.Pro234Ser)
17g.47744792C>ACA400050259TBX21c.1034C>A (p.Pro345His)
c.1097C>A (p.Pro366His)
c.701C>A (p.Pro234His)
17g.47744792C>GCA400050261TBX21c.1034C>G (p.Pro345Arg)
c.1097C>G (p.Pro366Arg)
c.701C>G (p.Pro234Arg)
17g.47744792C>TCA400050265TBX21c.1034C>T (p.Pro345Leu)
c.1097C>T (p.Pro366Leu)
c.701C>T (p.Pro234Leu)
17g.47744793C>ACA500450794TBX21c.1035C>A (p.Pro345=)
c.1098C>A (p.Pro366=)
c.702C>A (p.Pro234=)
17g.47744793C>GCA500450791TBX21c.1035C>G (p.Pro345=)
c.1098C>G (p.Pro366=)
c.702C>G (p.Pro234=)
17g.47744793C>TCA500450793TBX21c.1035C>T (p.Pro345=)
c.1098C>T (p.Pro366=)
c.702C>T (p.Pro234=)
17g.47744794A>CCA400050278TBX21c.1036A>C (p.Asn346His)
c.1099A>C (p.Asn367His)
c.703A>C (p.Asn235His)
17g.47744794A>GCA400050270TBX21c.1036A>G (p.Asn346Asp)
c.1099A>G (p.Asn367Asp)
c.703A>G (p.Asn235Asp)
17g.47744794A>TCA400050274TBX21c.1036A>T (p.Asn346Tyr)
c.1099A>T (p.Asn367Tyr)
c.703A>T (p.Asn235Tyr)
17g.47744795A>CCA400050285TBX21c.1037A>C (p.Asn346Thr)
c.1100A>C (p.Asn367Thr)
c.704A>C (p.Asn235Thr)
17g.47744795A>GCA400050286TBX21c.1037A>G (p.Asn346Ser)
c.1100A>G (p.Asn367Ser)
c.704A>G (p.Asn235Ser)
 gnomAD v4
17g.47744795A>TCA400050287TBX21c.1037A>T (p.Asn346Ile)
c.1100A>T (p.Asn367Ile)
c.704A>T (p.Asn235Ile)
17g.47744796C>ACA400050288TBX21c.1038C>A (p.Asn346Lys)
c.1101C>A (p.Asn367Lys)
c.705C>A (p.Asn235Lys)
17g.47744796C>GCA400050291TBX21c.1038C>G (p.Asn346Lys)
c.1101C>G (p.Asn367Lys)
c.705C>G (p.Asn235Lys)
17g.47744796C>TCA500450804TBX21c.1038C>T (p.Asn346=)
c.1101C>T (p.Asn367=)
c.705C>T (p.Asn235=)
17g.47744796_47744797insAGATGTGTACACA984266181TBX21c.1038_1039insAGATGTGTACA (p.Cys347ArgfsTer?)
c.1101_1102insAGATGTGTACA (p.Cys368ArgfsTer?)
c.705_706insAGATGTGTACA (p.Cys236ArgfsTer?)
 gnomAD v3 gnomAD v4
17g.47744797T>ACA400050293TBX21c.1039T>A (p.Cys347Ser)
c.1102T>A (p.Cys368Ser)
c.706T>A (p.Cys236Ser)
17g.47744797T>CCA8626443TBX21c.1039T>C (p.Cys347Arg)
c.1102T>C (p.Cys368Arg)
c.706T>C (p.Cys236Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744797T>GCA400050298TBX21c.1039T>G (p.Cys347Gly)
c.1102T>G (p.Cys368Gly)
c.706T>G (p.Cys236Gly)
17g.47744797T=CA2262810708TBX21c.1039T= (p.Cys347=)
c.1102T= (p.Cys368=)
c.706T= (p.Cys236=)
17g.47744798G>ACA400050304TBX21c.1040G>A (p.Cys347Tyr)
c.1103G>A (p.Cys368Tyr)
c.707G>A (p.Cys236Tyr)
 gnomAD v4
17g.47744798G>CCA400050307TBX21c.1040G>C (p.Cys347Ser)
c.1103G>C (p.Cys368Ser)
c.707G>C (p.Cys236Ser)
 dbSNP gnomAD v2
17g.47744798G=CA2262810709TBX21c.1040G= (p.Cys347=)
c.1103G= (p.Cys368=)
c.707G= (p.Cys236=)
17g.47744798G>TCA400050311TBX21c.1040G>T (p.Cys347Phe)
c.1103G>T (p.Cys368Phe)
c.707G>T (p.Cys236Phe)
17g.47744799T>ACA400050316TBX21c.1041T>A (p.Cys347Ter)
c.1104T>A (p.Cys368Ter)
c.708T>A (p.Cys236Ter)
17g.47744799T>CCA500450812TBX21c.1041T>C (p.Cys347=)
c.1104T>C (p.Cys368=)
c.708T>C (p.Cys236=)
 COSMIC
17g.47744799T>GCA400050319TBX21c.1041T>G (p.Cys347Trp)
c.1104T>G (p.Cys368Trp)
c.708T>G (p.Cys236Trp)
17g.47744800C>ACA400050331TBX21c.1042C>A (p.Gln348Lys)
c.1105C>A (p.Gln369Lys)
c.709C>A (p.Gln237Lys)
17g.47744800C>GCA400050328TBX21c.1042C>G (p.Gln348Glu)
c.1105C>G (p.Gln369Glu)
c.709C>G (p.Gln237Glu)
17g.47744800C>TCA400050325TBX21c.1042C>T (p.Gln348Ter)
c.1105C>T (p.Gln369Ter)
c.709C>T (p.Gln237Ter)
17g.47744801A>CCA400050338TBX21c.1043A>C (p.Gln348Pro)
c.1106A>C (p.Gln369Pro)
c.710A>C (p.Gln237Pro)
 COSMIC
17g.47744801A>GCA400050335TBX21c.1043A>G (p.Gln348Arg)
c.1106A>G (p.Gln369Arg)
c.710A>G (p.Gln237Arg)
17g.47744801A>TCA400050341TBX21c.1043A>T (p.Gln348Leu)
c.1106A>T (p.Gln369Leu)
c.710A>T (p.Gln237Leu)
17g.47744802A>CCA400050345TBX21c.1044A>C (p.Gln348His)
c.1107A>C (p.Gln369His)
c.711A>C (p.Gln237His)
17g.47744802A>GCA500450822TBX21c.1044A>G (p.Gln348=)
c.1107A>G (p.Gln369=)
c.711A>G (p.Gln237=)
17g.47744802A>TCA400050349TBX21c.1044A>T (p.Gln348His)
c.1107A>T (p.Gln369His)
c.711A>T (p.Gln237His)
17g.47744803T>ACA400050354TBX21c.1045T>A (p.Phe349Ile)
c.1108T>A (p.Phe370Ile)
c.712T>A (p.Phe238Ile)
17g.47744803T>CCA400050357TBX21c.1045T>C (p.Phe349Leu)
c.1108T>C (p.Phe370Leu)
c.712T>C (p.Phe238Leu)
17g.47744803T>GCA400050360TBX21c.1045T>G (p.Phe349Val)
c.1108T>G (p.Phe370Val)
c.712T>G (p.Phe238Val)
17g.47744804T>ACA400050366TBX21c.1046T>A (p.Phe349Tyr)
c.1109T>A (p.Phe370Tyr)
c.713T>A (p.Phe238Tyr)
 dbSNP gnomAD v3 gnomAD v4
17g.47744804T>CCA400050369TBX21c.1046T>C (p.Phe349Ser)
c.1109T>C (p.Phe370Ser)
c.713T>C (p.Phe238Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.47744804T>GCA400050372TBX21c.1046T>G (p.Phe349Cys)
c.1109T>G (p.Phe370Cys)
c.713T>G (p.Phe238Cys)
17g.47744804T=CA2262810710TBX21c.1046T= (p.Phe349=)
c.1109T= (p.Phe370=)
c.713T= (p.Phe238=)
17g.47744805C>ACA400050376TBX21c.1047C>A (p.Phe349Leu)
c.1110C>A (p.Phe370Leu)
c.714C>A (p.Phe238Leu)
17g.47744805C>GCA400050379TBX21c.1047C>G (p.Phe349Leu)
c.1110C>G (p.Phe370Leu)
c.714C>G (p.Phe238Leu)
17g.47744805C>TCA500450828TBX21c.1047C>T (p.Phe349=)
c.1110C>T (p.Phe370=)
c.714C>T (p.Phe238=)
 gnomAD v4 COSMIC
17g.47744806C>ACA400050385TBX21c.1048C>A (p.Leu350Ile)
c.1111C>A (p.Leu371Ile)
c.715C>A (p.Leu239Ile)
17g.47744806C=CA2262810711TBX21c.1048C= (p.Leu350=)
c.1111C= (p.Leu371=)
c.715C= (p.Leu239=)
17g.47744806C>GCA400050388TBX21c.1048C>G (p.Leu350Val)
c.1111C>G (p.Leu371Val)
c.715C>G (p.Leu239Val)
17g.47744806C>TCA400050391TBX21c.1048C>T (p.Leu350Phe)
c.1111C>T (p.Leu371Phe)
c.715C>T (p.Leu239Phe)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.47744807T>ACA400050397TBX21c.1049T>A (p.Leu350His)
c.1112T>A (p.Leu371His)
c.716T>A (p.Leu239His)
17g.47744807T>CCA8626444TBX21c.1049T>C (p.Leu350Pro)
c.1112T>C (p.Leu371Pro)
c.716T>C (p.Leu239Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744807T>GCA400050400TBX21c.1049T>G (p.Leu350Arg)
c.1112T>G (p.Leu371Arg)
c.716T>G (p.Leu239Arg)
17g.47744807T=CA2262810712TBX21c.1049T= (p.Leu350=)
c.1112T= (p.Leu371=)
c.716T= (p.Leu239=)
17g.47744808T>ACA500450838TBX21c.1050T>A (p.Leu350=)
c.1113T>A (p.Leu371=)
c.717T>A (p.Leu239=)
17g.47744808T>CCA500450839TBX21c.1050T>C (p.Leu350=)
c.1113T>C (p.Leu371=)
c.717T>C (p.Leu239=)
 dbSNP gnomAD v4
17g.47744808T>GCA500450841TBX21c.1050T>G (p.Leu350=)
c.1113T>G (p.Leu371=)
c.717T>G (p.Leu239=)
17g.47744808T=CA2262810713TBX21c.1050T= (p.Leu350=)
c.1113T= (p.Leu371=)
c.717T= (p.Leu239=)
17g.47744809G>ACA291272805TBX21c.1051G>A (p.Gly351Arg)
c.1114G>A (p.Gly372Arg)
c.718G>A (p.Gly240Arg)
 dbSNP gnomAD v4
17g.47744809G>CCA400050412TBX21c.1051G>C (p.Gly351Arg)
c.1114G>C (p.Gly372Arg)
c.718G>C (p.Gly240Arg)
17g.47744809G=CA2262810714TBX21c.1051G= (p.Gly351=)
c.1114G= (p.Gly372=)
c.718G= (p.Gly240=)
17g.47744809G>TCA400050416TBX21c.1051G>T (p.Gly351Trp)
c.1114G>T (p.Gly372Trp)
c.718G>T (p.Gly240Trp)
 gnomAD v4
17g.47744810G>ACA400050420TBX21c.1052G>A (p.Gly351Glu)
c.1115G>A (p.Gly372Glu)
c.719G>A (p.Gly240Glu)
17g.47744810G>CCA8626445TBX21c.1052G>C (p.Gly351Ala)
c.1115G>C (p.Gly372Ala)
c.719G>C (p.Gly240Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744810G=CA2262810715TBX21c.1052G= (p.Gly351=)
c.1115G= (p.Gly372=)
c.719G= (p.Gly240=)
17g.47744810G>TCA400050424TBX21c.1052G>T (p.Gly351Val)
c.1115G>T (p.Gly372Val)
c.719G>T (p.Gly240Val)
17g.47744811G>ACA8626446TBX21c.1053G>A (p.Gly351=)
c.1116G>A (p.Gly372=)
c.720G>A (p.Gly240=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.47744811G>CCA500450851TBX21c.1053G>C (p.Gly351=)
c.1116G>C (p.Gly372=)
c.720G>C (p.Gly240=)
17g.47744811G=CA2262810716TBX21c.1053G= (p.Gly351=)
c.1116G= (p.Gly372=)
c.720G= (p.Gly240=)
17g.47744811G>TCA500450853TBX21c.1053G>T (p.Gly351=)
c.1116G>T (p.Gly372=)
c.720G>T (p.Gly240=)
17g.47744812G>ACA400050432TBX21c.1054G>A (p.Gly352Arg)
c.1117G>A (p.Gly373Arg)
c.721G>A (p.Gly241Arg)
17g.47744812G>CCA400050435TBX21c.1054G>C (p.Gly352Arg)
c.1117G>C (p.Gly373Arg)
c.721G>C (p.Gly241Arg)
17g.47744812G>TCA400050438TBX21c.1054G>T (p.Gly352Ter)
c.1117G>T (p.Gly373Ter)
c.721G>T (p.Gly241Ter)
17g.47744813G>ACA400050448TBX21c.1055G>A (p.Gly352Glu)
c.1118G>A (p.Gly373Glu)
c.722G>A (p.Gly241Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47744813G>CCA400050459TBX21c.1055G>C (p.Gly352Ala)
c.1118G>C (p.Gly373Ala)
c.722G>C (p.Gly241Ala)
17g.47744813G=CA2262810717TBX21c.1055G= (p.Gly352=)
c.1118G= (p.Gly373=)
c.722G= (p.Gly241=)
17g.47744813G>TCA400050445TBX21c.1055G>T (p.Gly352Val)
c.1118G>T (p.Gly373Val)
c.722G>T (p.Gly241Val)
17g.47744814A>CCA500450858TBX21c.1056A>C (p.Gly352=)
c.1119A>C (p.Gly373=)
c.723A>C (p.Gly241=)
17g.47744814A>GCA500450862TBX21c.1056A>G (p.Gly352=)
c.1119A>G (p.Gly373=)
c.723A>G (p.Gly241=)
17g.47744814A>TCA500450860TBX21c.1056A>T (p.Gly352=)
c.1119A>T (p.Gly373=)
c.723A>T (p.Gly241=)
17g.47744815G>ACA400050462TBX21c.1057G>A (p.Asp353Asn)
c.1120G>A (p.Asp374Asn)
c.724G>A (p.Asp242Asn)
 dbSNP
17g.47744815G>CCA400050465TBX21c.1057G>C (p.Asp353His)
c.1120G>C (p.Asp374His)
c.724G>C (p.Asp242His)
17g.47744815G=CA2262810718TBX21c.1057G= (p.Asp353=)
c.1120G= (p.Asp374=)
c.724G= (p.Asp242=)
17g.47744815G>TCA400050468TBX21c.1057G>T (p.Asp353Tyr)
c.1120G>T (p.Asp374Tyr)
c.724G>T (p.Asp242Tyr)
17g.47744816A>CCA400050475TBX21c.1058A>C (p.Asp353Ala)
c.1121A>C (p.Asp374Ala)
c.725A>C (p.Asp242Ala)
17g.47744816A>GCA400050477TBX21c.1058A>G (p.Asp353Gly)
c.1121A>G (p.Asp374Gly)
c.725A>G (p.Asp242Gly)
17g.47744816A>TCA400050482TBX21c.1058A>T (p.Asp353Val)
c.1121A>T (p.Asp374Val)
c.725A>T (p.Asp242Val)
17g.47744817T>ACA400050488TBX21c.1059T>A (p.Asp353Glu)
c.1122T>A (p.Asp374Glu)
c.726T>A (p.Asp242Glu)
17g.47744817T>CCA500450870TBX21c.1059T>C (p.Asp353=)
c.1122T>C (p.Asp374=)
c.726T>C (p.Asp242=)
17g.47744817T>GCA400050490TBX21c.1059T>G (p.Asp353Glu)
c.1122T>G (p.Asp374Glu)
c.726T>G (p.Asp242Glu)
17g.47744818C>ACA400050497TBX21c.1060C>A (p.His354Asn)
c.1123C>A (p.His375Asn)
c.727C>A (p.His243Asn)
17g.47744818C>GCA400050500TBX21c.1060C>G (p.His354Asp)
c.1123C>G (p.His375Asp)
c.727C>G (p.His243Asp)
17g.47744818C>TCA400050503TBX21c.1060C>T (p.His354Tyr)
c.1123C>T (p.His375Tyr)
c.727C>T (p.His243Tyr)
 COSMIC
17g.47744818_47744821delinsCACTCA2262810719TBX21c.1060_1063delinsCACT (p.His354=)
c.1123_1126delinsCACT (p.His375=)
c.727_730delinsCACT (p.His243=)
17g.47744819A=CA2262810720TBX21c.1061A= (p.His354=)
c.1124A= (p.His375=)
c.728A= (p.His243=)
17g.47744819A>CCA8626447TBX21c.1061A>C (p.His354Pro)
c.1124A>C (p.His375Pro)
c.728A>C (p.His243Pro)
 dbSNP ExAC gnomAD v2
17g.47744819A>GCA400050510TBX21c.1061A>G (p.His354Arg)
c.1124A>G (p.His375Arg)
c.728A>G (p.His243Arg)
17g.47744819A>TCA400050513TBX21c.1061A>T (p.His354Leu)
c.1124A>T (p.His375Leu)
c.728A>T (p.His243Leu)
17g.47744822_47744824delCA626685319TBX21c.1064_1066del (p.Tyr355del)
c.1127_1129del (p.Tyr376del)
c.731_733del (p.Tyr244del)
 dbSNP gnomAD v2 gnomAD v4
17g.47744820C>ACA400050519TBX21c.1062C>A (p.His354Gln)
c.1125C>A (p.His375Gln)
c.729C>A (p.His243Gln)
17g.47744820C>GCA400050522TBX21c.1062C>G (p.His354Gln)
c.1125C>G (p.His375Gln)
c.729C>G (p.His243Gln)
17g.47744820C>TCA500450879TBX21c.1062C>T (p.His354=)
c.1125C>T (p.His375=)
c.729C>T (p.His243=)
17g.47744821T>ACA400050526TBX21c.1063T>A (p.Tyr355Asn)
c.1126T>A (p.Tyr376Asn)
c.730T>A (p.Tyr244Asn)
17g.47744821T>CCA8626448TBX21c.1063T>C (p.Tyr355His)
c.1126T>C (p.Tyr376His)
c.730T>C (p.Tyr244His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744821T>GCA400050532TBX21c.1063T>G (p.Tyr355Asp)
c.1126T>G (p.Tyr376Asp)
c.730T>G (p.Tyr244Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47744821T=CA2262810721TBX21c.1063T= (p.Tyr355=)
c.1126T= (p.Tyr376=)
c.730T= (p.Tyr244=)
17g.47744822A=CA2262810722TBX21c.1064A= (p.Tyr355=)
c.1127A= (p.Tyr376=)
c.731A= (p.Tyr244=)
17g.47744822A>CCA400050536TBX21c.1064A>C (p.Tyr355Ser)
c.1127A>C (p.Tyr376Ser)
c.731A>C (p.Tyr244Ser)
 dbSNP
17g.47744822A>GCA400050539TBX21c.1064A>G (p.Tyr355Cys)
c.1127A>G (p.Tyr376Cys)
c.731A>G (p.Tyr244Cys)
 gnomAD v4
17g.47744822A>TCA400050542TBX21c.1064A>T (p.Tyr355Phe)
c.1127A>T (p.Tyr376Phe)
c.731A>T (p.Tyr244Phe)
17g.47744823C>ACA400050546TBX21c.1065C>A (p.Tyr355Ter)
c.1128C>A (p.Tyr376Ter)
c.732C>A (p.Tyr244Ter)
17g.47744823C=CA2262810723TBX21c.1065C= (p.Tyr355=)
c.1128C= (p.Tyr376=)
c.732C= (p.Tyr244=)
17g.47744823C>GCA400050550TBX21c.1065C>G (p.Tyr355Ter)
c.1128C>G (p.Tyr376Ter)
c.732C>G (p.Tyr244Ter)
17g.47744823C>TCA500450890TBX21c.1065C>T (p.Tyr355=)
c.1128C>T (p.Tyr376=)
c.732C>T (p.Tyr244=)
 dbSNP gnomAD v2 gnomAD v4
17g.47744824T>ACA400050554TBX21c.1066T>A (p.Ser356Thr)
c.1129T>A (p.Ser377Thr)
c.733T>A (p.Ser245Thr)
17g.47744824T>CCA8626449TBX21c.1066T>C (p.Ser356Pro)
c.1129T>C (p.Ser377Pro)
c.733T>C (p.Ser245Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744824T>GCA400050560TBX21c.1066T>G (p.Ser356Ala)
c.1129T>G (p.Ser377Ala)
c.733T>G (p.Ser245Ala)
17g.47744824T=CA2262810724TBX21c.1066T= (p.Ser356=)
c.1129T= (p.Ser377=)
c.733T= (p.Ser245=)
17g.47744825C>ACA400050566TBX21c.1067C>A (p.Ser356Tyr)
c.1130C>A (p.Ser377Tyr)
c.734C>A (p.Ser245Tyr)
17g.47744825C=CA2262810725TBX21c.1067C= (p.Ser356=)
c.1130C= (p.Ser377=)
c.734C= (p.Ser245=)
17g.47744825C>GCA400050568TBX21c.1067C>G (p.Ser356Cys)
c.1130C>G (p.Ser377Cys)
c.734C>G (p.Ser245Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.47744825C>TCA400050571TBX21c.1067C>T (p.Ser356Phe)
c.1130C>T (p.Ser377Phe)
c.734C>T (p.Ser245Phe)
 gnomAD v4
17g.47744826T>ACA500450899TBX21c.1068T>A (p.Ser356=)
c.1131T>A (p.Ser377=)
c.735T>A (p.Ser245=)
17g.47744826T>CCA500450900TBX21c.1068T>C (p.Ser356=)
c.1131T>C (p.Ser377=)
c.735T>C (p.Ser245=)
 dbSNP gnomAD v2 gnomAD v4
17g.47744826T>GCA500450902TBX21c.1068T>G (p.Ser356=)
c.1131T>G (p.Ser377=)
c.735T>G (p.Ser245=)
17g.47744826T=CA2262810726TBX21c.1068T= (p.Ser356=)
c.1131T= (p.Ser377=)
c.735T= (p.Ser245=)
17g.47744827C>ACA400050582TBX21c.1069C>A (p.Pro357Thr)
c.1132C>A (p.Pro378Thr)
c.736C>A (p.Pro246Thr)
 gnomAD v4
17g.47744827C=CA2262810727TBX21c.1069C= (p.Pro357=)
c.1132C= (p.Pro378=)
c.736C= (p.Pro246=)
17g.47744827C>GCA400050585TBX21c.1069C>G (p.Pro357Ala)
c.1132C>G (p.Pro378Ala)
c.736C>G (p.Pro246Ala)
17g.47744827C>TCA400050579TBX21c.1069C>T (p.Pro357Ser)
c.1132C>T (p.Pro378Ser)
c.736C>T (p.Pro246Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.47744828C>ACA400050591TBX21c.1070C>A (p.Pro357His)
c.1133C>A (p.Pro378His)
c.737C>A (p.Pro246His)
 ClinVar dbSNP COSMIC
17g.47744828C=CA2262810728TBX21c.1070C= (p.Pro357=)
c.1133C= (p.Pro378=)
c.737C= (p.Pro246=)
17g.47744828C>GCA8626450TBX21c.1070C>G (p.Pro357Arg)
c.1133C>G (p.Pro378Arg)
c.737C>G (p.Pro246Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47744828C>TCA400050599TBX21c.1070C>T (p.Pro357Leu)
c.1133C>T (p.Pro378Leu)
c.737C>T (p.Pro246Leu)
17g.47744829T>ACA500450912TBX21c.1071T>A (p.Pro357=)
c.1134T>A (p.Pro378=)
c.738T>A (p.Pro246=)
17g.47744829T>CCA500450908TBX21c.1071T>C (p.Pro357=)
c.1134T>C (p.Pro378=)
c.738T>C (p.Pro246=)
17g.47744829T>GCA500450911TBX21c.1071T>G (p.Pro357=)
c.1134T>G (p.Pro378=)
c.738T>G (p.Pro246=)
17g.47744830C>ACA400050604TBX21c.1072C>A (p.Leu358Ile)
c.1135C>A (p.Leu379Ile)
c.739C>A (p.Leu247Ile)
17g.47744830C=CA2262810729TBX21c.1072C= (p.Leu358=)
c.1135C= (p.Leu379=)
c.739C= (p.Leu247=)
17g.47744830C>GCA400050608TBX21c.1072C>G (p.Leu358Val)
c.1135C>G (p.Leu379Val)
c.739C>G (p.Leu247Val)
 dbSNP gnomAD v3 gnomAD v4
17g.47744830C>TCA400050610TBX21c.1072C>T (p.Leu358Phe)
c.1135C>T (p.Leu379Phe)
c.739C>T (p.Leu247Phe)
17g.47744831T>ACA400050627TBX21c.1073T>A (p.Leu358His)
c.1136T>A (p.Leu379His)
c.740T>A (p.Leu247His)
17g.47744831T>CCA400050619TBX21c.1073T>C (p.Leu358Pro)
c.1136T>C (p.Leu379Pro)
c.740T>C (p.Leu247Pro)
17g.47744831T>GCA400050615TBX21c.1073T>G (p.Leu358Arg)
c.1136T>G (p.Leu379Arg)
c.740T>G (p.Leu247Arg)
17g.47744832C>ACA500450920TBX21c.1074C>A (p.Leu358=)
c.1137C>A (p.Leu379=)
c.741C>A (p.Leu247=)
17g.47744832C>GCA500450922TBX21c.1074C>G (p.Leu358=)
c.1137C>G (p.Leu379=)
c.741C>G (p.Leu247=)
17g.47744832C>TCA500450923TBX21c.1074C>T (p.Leu358=)
c.1137C>T (p.Leu379=)
c.741C>T (p.Leu247=)
 COSMIC
17g.47744833C>ACA400050630TBX21c.1075C>A (p.Leu359Ile)
c.1138C>A (p.Leu380Ile)
c.742C>A (p.Leu248Ile)
17g.47744833C>GCA400050632TBX21c.1075C>G (p.Leu359Val)
c.1138C>G (p.Leu380Val)
c.742C>G (p.Leu248Val)
17g.47744833C>TCA500450926TBX21c.1075C>T (p.Leu359=)
c.1138C>T (p.Leu380=)
c.742C>T (p.Leu248=)
17g.47744834T>ACA400050637TBX21c.1076T>A (p.Leu359Gln)
c.1139T>A (p.Leu380Gln)
c.743T>A (p.Leu248Gln)
17g.47744834T>CCA400050638TBX21c.1076T>C (p.Leu359Pro)
c.1139T>C (p.Leu380Pro)
c.743T>C (p.Leu248Pro)
17g.47744834T>GCA400050643TBX21c.1076T>G (p.Leu359Arg)
c.1139T>G (p.Leu380Arg)
c.743T>G (p.Leu248Arg)
17g.47744835delCA2733745621TBX21c.1077del (p.Asn361ThrfsTer?)
c.1140del (p.Asn382ThrfsTer?)
c.744del (p.Asn250ThrfsTer?)
 dbSNP
17g.47744835A=CA2262810730TBX21c.1077A= (p.Leu359=)
c.1140A= (p.Leu380=)
c.744A= (p.Leu248=)
17g.47744835A>CCA500450931TBX21c.1077A>C (p.Leu359=)
c.1140A>C (p.Leu380=)
c.744A>C (p.Leu248=)
 dbSNP
17g.47744835A>GCA291272818TBX21c.1077A>G (p.Leu359=)
c.1140A>G (p.Leu380=)
c.744A>G (p.Leu248=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47744835A>TCA500450932TBX21c.1077A>T (p.Leu359=)
c.1140A>T (p.Leu380=)
c.744A>T (p.Leu248=)
17g.47744836C>ACA400050653TBX21c.1078C>A (p.Pro360Thr)
c.1141C>A (p.Pro381Thr)
c.745C>A (p.Pro249Thr)
17g.47744836C=CA2262810731TBX21c.1078C= (p.Pro360=)
c.1141C= (p.Pro381=)
c.745C= (p.Pro249=)
17g.47744836C>GCA400050661TBX21c.1078C>G (p.Pro360Ala)
c.1141C>G (p.Pro381Ala)
c.745C>G (p.Pro249Ala)
17g.47744836C>TCA400050656TBX21c.1078C>T (p.Pro360Ser)
c.1141C>T (p.Pro381Ser)
c.745C>T (p.Pro249Ser)
 dbSNP
17g.47744837C>ACA400050664TBX21c.1079C>A (p.Pro360His)
c.1142C>A (p.Pro381His)
c.746C>A (p.Pro249His)
17g.47744837C>GCA400050667TBX21c.1079C>G (p.Pro360Arg)
c.1142C>G (p.Pro381Arg)
c.746C>G (p.Pro249Arg)
17g.47744837C>TCA400050671TBX21c.1079C>T (p.Pro360Leu)
c.1142C>T (p.Pro381Leu)
c.746C>T (p.Pro249Leu)
17g.47744838C>ACA500450939TBX21c.1080C>A (p.Pro360=)
c.1143C>A (p.Pro381=)
c.747C>A (p.Pro249=)
17g.47744838C>GCA500450942TBX21c.1080C>G (p.Pro360=)
c.1143C>G (p.Pro381=)
c.747C>G (p.Pro249=)
17g.47744838C>TCA500450940TBX21c.1080C>T (p.Pro360=)
c.1143C>T (p.Pro381=)
c.747C>T (p.Pro249=)
 gnomAD v4
17g.47744839A>CCA400050678TBX21c.1081A>C (p.Asn361His)
c.1144A>C (p.Asn382His)
c.748A>C (p.Asn250His)
17g.47744839A>GCA400050684TBX21c.1081A>G (p.Asn361Asp)
c.1144A>G (p.Asn382Asp)
c.748A>G (p.Asn250Asp)
17g.47744839A>TCA400050686TBX21c.1081A>T (p.Asn361Tyr)
c.1144A>T (p.Asn382Tyr)
c.748A>T (p.Asn250Tyr)
17g.47744840A=CA2262810732TBX21c.1082A= (p.Asn361=)
c.1145A= (p.Asn382=)
c.749A= (p.Asn250=)
17g.47744840A>CCA400050690TBX21c.1082A>C (p.Asn361Thr)
c.1145A>C (p.Asn382Thr)
c.749A>C (p.Asn250Thr)
17g.47744840A>GCA400050694TBX21c.1082A>G (p.Asn361Ser)
c.1145A>G (p.Asn382Ser)
c.749A>G (p.Asn250Ser)
 dbSNP gnomAD v4
17g.47744840A>TCA400050698TBX21c.1082A>T (p.Asn361Ile)
c.1145A>T (p.Asn382Ile)
c.749A>T (p.Asn250Ile)
17g.47744841C>ACA400050703TBX21c.1083C>A (p.Asn361Lys)
c.1146C>A (p.Asn382Lys)
c.750C>A (p.Asn250Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.47744841C=CA2262810733TBX21c.1083C= (p.Asn361=)
c.1146C= (p.Asn382=)
c.750C= (p.Asn250=)
17g.47744841C>GCA400050708TBX21c.1083C>G (p.Asn361Lys)
c.1146C>G (p.Asn382Lys)
c.750C>G (p.Asn250Lys)
17g.47744841C>TCA8626451TBX21c.1083C>T (p.Asn361=)
c.1146C>T (p.Asn382=)
c.750C>T (p.Asn250=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47744842C>ACA400050728TBX21c.1084C>A (p.Gln362Lys)
c.1147C>A (p.Gln383Lys)
c.751C>A (p.Gln251Lys)
17g.47744842C>GCA400050717TBX21c.1084C>G (p.Gln362Glu)
c.1147C>G (p.Gln383Glu)
c.751C>G (p.Gln251Glu)
17g.47744842C>TCA400050720TBX21c.1084C>T (p.Gln362Ter)
c.1147C>T (p.Gln383Ter)
c.751C>T (p.Gln251Ter)
17g.47744843A=CA2262810734TBX21c.1085A= (p.Gln362=)
c.1148A= (p.Gln383=)
c.752A= (p.Gln251=)
17g.47744843A>CCA400050733TBX21c.1085A>C (p.Gln362Pro)
c.1148A>C (p.Gln383Pro)
c.752A>C (p.Gln251Pro)
17g.47744843A>GCA400050735TBX21c.1085A>G (p.Gln362Arg)
c.1148A>G (p.Gln383Arg)
c.752A>G (p.Gln251Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.47744843A>TCA400050738TBX21c.1085A>T (p.Gln362Leu)
c.1148A>T (p.Gln383Leu)
c.752A>T (p.Gln251Leu)
17g.47744844G>ACA291272826TBX21c.1086G>A (p.Gln362=)
c.1149G>A (p.Gln383=)
c.753G>A (p.Gln251=)
 dbSNP gnomAD v3 gnomAD v4
17g.47744844G>CCA400050741TBX21c.1086G>C (p.Gln362His)
c.1149G>C (p.Gln383His)
c.753G>C (p.Gln251His)
17g.47744844G=CA2262810735TBX21c.1086G= (p.Gln362=)
c.1149G= (p.Gln383=)
c.753G= (p.Gln251=)
17g.47744844G>TCA400050743TBX21c.1086G>T (p.Gln362His)
c.1149G>T (p.Gln383His)
c.753G>T (p.Gln251His)
17g.47744845T>ACA400050747TBX21c.1087T>A (p.Tyr363Asn)
c.1150T>A (p.Tyr384Asn)
c.754T>A (p.Tyr252Asn)
17g.47744845T>CCA400050749TBX21c.1087T>C (p.Tyr363His)
c.1150T>C (p.Tyr384His)
c.754T>C (p.Tyr252His)
 gnomAD v4
17g.47744845T>GCA400050761TBX21c.1087T>G (p.Tyr363Asp)
c.1150T>G (p.Tyr384Asp)
c.754T>G (p.Tyr252Asp)
17g.47744846A>CCA400050766TBX21c.1088A>C (p.Tyr363Ser)
c.1151A>C (p.Tyr384Ser)
c.755A>C (p.Tyr252Ser)
17g.47744846A>GCA400050769TBX21c.1088A>G (p.Tyr363Cys)
c.1151A>G (p.Tyr384Cys)
c.755A>G (p.Tyr252Cys)
17g.47744846A>TCA400050772TBX21c.1088A>T (p.Tyr363Phe)
c.1151A>T (p.Tyr384Phe)
c.755A>T (p.Tyr252Phe)
 COSMIC
17g.47744847T>ACA400050775TBX21c.1089T>A (p.Tyr363Ter)
c.1152T>A (p.Tyr384Ter)
c.756T>A (p.Tyr252Ter)
17g.47744847T>CCA500450973TBX21c.1089T>C (p.Tyr363=)
c.1152T>C (p.Tyr384=)
c.756T>C (p.Tyr252=)
17g.47744847T>GCA400050778TBX21c.1089T>G (p.Tyr363Ter)
c.1152T>G (p.Tyr384Ter)
c.756T>G (p.Tyr252Ter)
17g.47744848C>ACA400050799TBX21c.1090C>A (p.Pro364Thr)
c.1153C>A (p.Pro385Thr)
c.757C>A (p.Pro253Thr)
17g.47744848C=CA2262810736TBX21c.1090C= (p.Pro364=)
c.1153C= (p.Pro385=)
c.757C= (p.Pro253=)
17g.47744848C>GCA400050789TBX21c.1090C>G (p.Pro364Ala)
c.1153C>G (p.Pro385Ala)
c.757C>G (p.Pro253Ala)
17g.47744848C>TCA400050784TBX21c.1090C>T (p.Pro364Ser)
c.1153C>T (p.Pro385Ser)
c.757C>T (p.Pro253Ser)
 dbSNP
17g.47744849C>ACA400050801TBX21c.1091C>A (p.Pro364His)
c.1154C>A (p.Pro385His)
c.758C>A (p.Pro253His)
17g.47744849C>GCA400050803TBX21c.1091C>G (p.Pro364Arg)
c.1154C>G (p.Pro385Arg)
c.758C>G (p.Pro253Arg)
17g.47744849C>TCA400050806TBX21c.1091C>T (p.Pro364Leu)
c.1154C>T (p.Pro385Leu)
c.758C>T (p.Pro253Leu)

Number of alleles fetched