Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.93593738_93593740delCA16618226NR2F1c.688_690del (p.Phe230del)
c.718_720del (p.Phe240del)
c.1093_1095del (p.Phe365del)
c.1168_1170del (p.Phe390del)
c.1015_1017del (p.Phe339del)
n.391_393del
 ClinVar dbSNP
5g.93593738T>ACA360527936NR2F1c.688T>A (p.Phe230Ile)
c.718T>A (p.Phe240Ile)
c.1093T>A (p.Phe365Ile)
c.1168T>A (p.Phe390Ile)
c.1015T>A (p.Phe339Ile)
n.391T>A
5g.93593738T>CCA360527937NR2F1c.688T>C (p.Phe230Leu)
c.718T>C (p.Phe240Leu)
c.1093T>C (p.Phe365Leu)
c.1168T>C (p.Phe390Leu)
c.1015T>C (p.Phe339Leu)
n.391T>C
5g.93593738T>GCA360527938NR2F1c.688T>G (p.Phe230Val)
c.718T>G (p.Phe240Val)
c.1093T>G (p.Phe365Val)
c.1168T>G (p.Phe390Val)
c.1015T>G (p.Phe339Val)
n.391T>G
5g.93593739T>ACA360527939NR2F1c.689T>A (p.Phe230Tyr)
c.719T>A (p.Phe240Tyr)
c.1094T>A (p.Phe365Tyr)
c.1169T>A (p.Phe390Tyr)
c.1016T>A (p.Phe339Tyr)
n.392T>A
5g.93593739T>CCA360527940NR2F1c.689T>C (p.Phe230Ser)
c.719T>C (p.Phe240Ser)
c.1094T>C (p.Phe365Ser)
c.1169T>C (p.Phe390Ser)
c.1016T>C (p.Phe339Ser)
n.392T>C
5g.93593739T>GCA360527941NR2F1c.689T>G (p.Phe230Cys)
c.719T>G (p.Phe240Cys)
c.1094T>G (p.Phe365Cys)
c.1169T>G (p.Phe390Cys)
c.1016T>G (p.Phe339Cys)
n.392T>G
5g.93593740C>ACA360527942NR2F1c.690C>A (p.Phe230Leu)
c.720C>A (p.Phe240Leu)
c.1095C>A (p.Phe365Leu)
c.1170C>A (p.Phe390Leu)
c.1017C>A (p.Phe339Leu)
n.393C>A
5g.93593740C=CA1564188033NR2F1c.690C= (p.Phe230=)
c.720C= (p.Phe240=)
c.1095C= (p.Phe365=)
c.1170C= (p.Phe390=)
c.1017C= (p.Phe339=)
n.393C=
5g.93593740C>GCA360527943NR2F1c.690C>G (p.Phe230Leu)
c.720C>G (p.Phe240Leu)
c.1095C>G (p.Phe365Leu)
c.1170C>G (p.Phe390Leu)
c.1017C>G (p.Phe339Leu)
n.393C>G
 ClinVar dbSNP
5g.93593740C>TCA445722587NR2F1c.690C>T (p.Phe230=)
c.720C>T (p.Phe240=)
c.1095C>T (p.Phe365=)
c.1170C>T (p.Phe390=)
c.1017C>T (p.Phe339=)
n.393C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.93593741delCA2573140116NR2F1c.691del (p.Val231SerfsTer4)
c.721del (p.Val241SerfsTer4)
c.1096del (p.Val366SerfsTer4)
c.1171del (p.Val391SerfsTer4)
c.1018del (p.Val340SerfsTer4)
n.394del
 ClinVar dbSNP
5g.93593741G>ACA360527946NR2F1c.691G>A (p.Val231Ile)
c.721G>A (p.Val241Ile)
c.1096G>A (p.Val366Ile)
c.1171G>A (p.Val391Ile)
c.1018G>A (p.Val340Ile)
n.394G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.93593741G>CCA360527945NR2F1c.691G>C (p.Val231Leu)
c.721G>C (p.Val241Leu)
c.1096G>C (p.Val366Leu)
c.1171G>C (p.Val391Leu)
c.1018G>C (p.Val340Leu)
n.394G>C
5g.93593741G=CA1564188039NR2F1c.691G= (p.Val231=)
c.721G= (p.Val241=)
c.1096G= (p.Val366=)
c.1171G= (p.Val391=)
c.1018G= (p.Val340=)
n.394G=
5g.93593741G>TCA360527944NR2F1c.691G>T (p.Val231Phe)
c.721G>T (p.Val241Phe)
c.1096G>T (p.Val366Phe)
c.1171G>T (p.Val391Phe)
c.1018G>T (p.Val340Phe)
n.394G>T
 gnomAD v4
5g.93593742T>ACA360527947NR2F1c.692T>A (p.Val231Asp)
c.722T>A (p.Val241Asp)
c.1097T>A (p.Val366Asp)
c.1172T>A (p.Val391Asp)
c.1019T>A (p.Val340Asp)
n.395T>A
 dbSNP
5g.93593742T>CCA360527948NR2F1c.692T>C (p.Val231Ala)
c.722T>C (p.Val241Ala)
c.1097T>C (p.Val366Ala)
c.1172T>C (p.Val391Ala)
c.1019T>C (p.Val340Ala)
n.395T>C
5g.93593742T>GCA360527949NR2F1c.692T>G (p.Val231Gly)
c.722T>G (p.Val241Gly)
c.1097T>G (p.Val366Gly)
c.1172T>G (p.Val391Gly)
c.1019T>G (p.Val340Gly)
n.395T>G
5g.93593742T=CA1564188042NR2F1c.692T= (p.Val231=)
c.722T= (p.Val241=)
c.1097T= (p.Val366=)
c.1172T= (p.Val391=)
c.1019T= (p.Val340=)
n.395T=
5g.93593743C>ACA445722591NR2F1c.693C>A (p.Val231=)
c.723C>A (p.Val241=)
c.1098C>A (p.Val366=)
c.1173C>A (p.Val391=)
c.1020C>A (p.Val340=)
n.396C>A
 dbSNP
5g.93593743C=CA1564188044NR2F1c.693C= (p.Val231=)
c.723C= (p.Val241=)
c.1098C= (p.Val366=)
c.1173C= (p.Val391=)
c.1020C= (p.Val340=)
n.396C=
5g.93593743C>GCA445722592NR2F1c.693C>G (p.Val231=)
c.723C>G (p.Val241=)
c.1098C>G (p.Val366=)
c.1173C>G (p.Val391=)
c.1020C>G (p.Val340=)
n.396C>G
5g.93593743C>TCA445722594NR2F1c.693C>T (p.Val231=)
c.723C>T (p.Val241=)
c.1098C>T (p.Val366=)
c.1173C>T (p.Val391=)
c.1020C>T (p.Val340=)
n.396C>T
5g.93593744C>ACA360527950NR2F1c.694C>A (p.Arg232Ser)
c.724C>A (p.Arg242Ser)
c.1099C>A (p.Arg367Ser)
c.1174C>A (p.Arg392Ser)
c.1021C>A (p.Arg341Ser)
n.397C>A
5g.93593744C=CA1564188046NR2F1c.694C= (p.Arg232=)
c.724C= (p.Arg242=)
c.1099C= (p.Arg367=)
c.1174C= (p.Arg392=)
c.1021C= (p.Arg341=)
n.397C=
5g.93593744C>GCA360527951NR2F1c.694C>G (p.Arg232Gly)
c.724C>G (p.Arg242Gly)
c.1099C>G (p.Arg367Gly)
c.1174C>G (p.Arg392Gly)
c.1021C>G (p.Arg341Gly)
n.397C>G
5g.93593744C>TCA360527952NR2F1c.694C>T (p.Arg232Cys)
c.724C>T (p.Arg242Cys)
c.1099C>T (p.Arg367Cys)
c.1174C>T (p.Arg392Cys)
c.1021C>T (p.Arg341Cys)
n.397C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.93593745G>ACA123267085NR2F1c.695G>A (p.Arg232His)
c.725G>A (p.Arg242His)
c.1100G>A (p.Arg367His)
c.1175G>A (p.Arg392His)
c.1022G>A (p.Arg341His)
n.398G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.93593745G>CCA360527953NR2F1c.695G>C (p.Arg232Pro)
c.725G>C (p.Arg242Pro)
c.1100G>C (p.Arg367Pro)
c.1175G>C (p.Arg392Pro)
c.1022G>C (p.Arg341Pro)
n.398G>C
5g.93593745G=CA1564188049NR2F1c.695G= (p.Arg232=)
c.725G= (p.Arg242=)
c.1100G= (p.Arg367=)
c.1175G= (p.Arg392=)
c.1022G= (p.Arg341=)
n.398G=
5g.93593745G>TCA360527954NR2F1c.695G>T (p.Arg232Leu)
c.725G>T (p.Arg242Leu)
c.1100G>T (p.Arg367Leu)
c.1175G>T (p.Arg392Leu)
c.1022G>T (p.Arg341Leu)
n.398G>T
5g.93593746T>ACA445722599NR2F1c.696T>A (p.Arg232=)
c.726T>A (p.Arg242=)
c.1101T>A (p.Arg367=)
c.1176T>A (p.Arg392=)
c.1023T>A (p.Arg341=)
n.399T>A
5g.93593746T>CCA445722600NR2F1c.696T>C (p.Arg232=)
c.726T>C (p.Arg242=)
c.1101T>C (p.Arg367=)
c.1176T>C (p.Arg392=)
c.1023T>C (p.Arg341=)
n.399T>C
5g.93593746T>GCA445722601NR2F1c.696T>G (p.Arg232=)
c.726T>G (p.Arg242=)
c.1101T>G (p.Arg367=)
c.1176T>G (p.Arg392=)
c.1023T>G (p.Arg341=)
n.399T>G
5g.93593747T>ACA360527955NR2F1c.697T>A (p.Leu233Met)
c.727T>A (p.Leu243Met)
c.1102T>A (p.Leu368Met)
c.1177T>A (p.Leu393Met)
c.1024T>A (p.Leu342Met)
n.400T>A
5g.93593747T>CCA445722607NR2F1c.697T>C (p.Leu233=)
c.727T>C (p.Leu243=)
c.1102T>C (p.Leu368=)
c.1177T>C (p.Leu393=)
c.1024T>C (p.Leu342=)
n.400T>C
5g.93593747T>GCA360527956NR2F1c.697T>G (p.Leu233Val)
c.727T>G (p.Leu243Val)
c.1102T>G (p.Leu368Val)
c.1177T>G (p.Leu393Val)
c.1024T>G (p.Leu342Val)
n.400T>G
5g.93593748T>ACA360527958NR2F1c.698T>A (p.Leu233Ter)
c.728T>A (p.Leu243Ter)
c.1103T>A (p.Leu368Ter)
c.1178T>A (p.Leu393Ter)
c.1025T>A (p.Leu342Ter)
n.401T>A
5g.93593748T>CCA360527959NR2F1c.698T>C (p.Leu233Ser)
c.728T>C (p.Leu243Ser)
c.1103T>C (p.Leu368Ser)
c.1178T>C (p.Leu393Ser)
c.1025T>C (p.Leu342Ser)
n.401T>C
5g.93593748T>GCA360527957NR2F1c.698T>G (p.Leu233Trp)
c.728T>G (p.Leu243Trp)
c.1103T>G (p.Leu368Trp)
c.1178T>G (p.Leu393Trp)
c.1025T>G (p.Leu342Trp)
n.401T>G
5g.93593749G>ACA445722612NR2F1c.699G>A (p.Leu233=)
c.729G>A (p.Leu243=)
c.1104G>A (p.Leu368=)
c.1179G>A (p.Leu393=)
c.1026G>A (p.Leu342=)
n.402G>A
5g.93593749G>CCA360527960NR2F1c.699G>C (p.Leu233Phe)
c.729G>C (p.Leu243Phe)
c.1104G>C (p.Leu368Phe)
c.1179G>C (p.Leu393Phe)
c.1026G>C (p.Leu342Phe)
n.402G>C
5g.93593749G>TCA360527961NR2F1c.699G>T (p.Leu233Phe)
c.729G>T (p.Leu243Phe)
c.1104G>T (p.Leu368Phe)
c.1179G>T (p.Leu393Phe)
c.1026G>T (p.Leu342Phe)
n.402G>T
5g.93593750G>ACA360527962NR2F1c.700G>A (p.Val234Ile)
c.730G>A (p.Val244Ile)
c.1105G>A (p.Val369Ile)
c.1180G>A (p.Val394Ile)
c.1027G>A (p.Val343Ile)
n.403G>A
5g.93593750G>CCA360527963NR2F1c.700G>C (p.Val234Leu)
c.730G>C (p.Val244Leu)
c.1105G>C (p.Val369Leu)
c.1180G>C (p.Val394Leu)
c.1027G>C (p.Val343Leu)
n.403G>C
5g.93593750G>TCA360527964NR2F1c.700G>T (p.Val234Leu)
c.730G>T (p.Val244Leu)
c.1105G>T (p.Val369Leu)
c.1180G>T (p.Val394Leu)
c.1027G>T (p.Val343Leu)
n.403G>T
5g.93593751T>ACA360527967NR2F1c.701T>A (p.Val234Glu)
c.731T>A (p.Val244Glu)
c.1106T>A (p.Val369Glu)
c.1181T>A (p.Val394Glu)
c.1028T>A (p.Val343Glu)
n.404T>A
5g.93593751T>CCA360527966NR2F1c.701T>C (p.Val234Ala)
c.731T>C (p.Val244Ala)
c.1106T>C (p.Val369Ala)
c.1181T>C (p.Val394Ala)
c.1028T>C (p.Val343Ala)
n.404T>C
5g.93593751T>GCA360527965NR2F1c.701T>G (p.Val234Gly)
c.731T>G (p.Val244Gly)
c.1106T>G (p.Val369Gly)
c.1181T>G (p.Val394Gly)
c.1028T>G (p.Val343Gly)
n.404T>G
 ClinVar dbSNP
5g.93593752A>CCA445722628NR2F1c.702A>C (p.Val234=)
c.732A>C (p.Val244=)
c.1107A>C (p.Val369=)
c.1182A>C (p.Val394=)
c.1029A>C (p.Val343=)
n.405A>C
5g.93593752A>GCA445722627NR2F1c.702A>G (p.Val234=)
c.732A>G (p.Val244=)
c.1107A>G (p.Val369=)
c.1182A>G (p.Val394=)
c.1029A>G (p.Val343=)
n.405A>G
5g.93593752A>TCA445722626NR2F1c.702A>T (p.Val234=)
c.732A>T (p.Val244=)
c.1107A>T (p.Val369=)
c.1182A>T (p.Val394=)
c.1029A>T (p.Val343=)
n.405A>T
5g.93593753G>ACA360527968NR2F1c.703G>A (p.Gly235Ser)
c.733G>A (p.Gly245Ser)
c.1108G>A (p.Gly370Ser)
c.1183G>A (p.Gly395Ser)
c.1030G>A (p.Gly344Ser)
n.406G>A
5g.93593753G>CCA360527969NR2F1c.703G>C (p.Gly235Arg)
c.733G>C (p.Gly245Arg)
c.1108G>C (p.Gly370Arg)
c.1183G>C (p.Gly395Arg)
c.1030G>C (p.Gly344Arg)
n.406G>C
5g.93593753G>TCA360527970NR2F1c.703G>T (p.Gly235Cys)
c.733G>T (p.Gly245Cys)
c.1108G>T (p.Gly370Cys)
c.1183G>T (p.Gly395Cys)
c.1030G>T (p.Gly344Cys)
n.406G>T
5g.93593754G>ACA360527971NR2F1c.704G>A (p.Gly235Asp)
c.734G>A (p.Gly245Asp)
c.1109G>A (p.Gly370Asp)
c.1184G>A (p.Gly395Asp)
c.1031G>A (p.Gly344Asp)
n.407G>A
5g.93593754G>CCA360527972NR2F1c.704G>C (p.Gly235Ala)
c.734G>C (p.Gly245Ala)
c.1109G>C (p.Gly370Ala)
c.1184G>C (p.Gly395Ala)
c.1031G>C (p.Gly344Ala)
n.407G>C
 ClinVar
5g.93593754G>TCA360527973NR2F1c.704G>T (p.Gly235Val)
c.734G>T (p.Gly245Val)
c.1109G>T (p.Gly370Val)
c.1184G>T (p.Gly395Val)
c.1031G>T (p.Gly344Val)
n.407G>T
5g.93593755T>ACA445722638NR2F1c.705T>A (p.Gly235=)
c.735T>A (p.Gly245=)
c.1110T>A (p.Gly370=)
c.1185T>A (p.Gly395=)
c.1032T>A (p.Gly344=)
n.408T>A
5g.93593755T>CCA445722639NR2F1c.705T>C (p.Gly235=)
c.735T>C (p.Gly245=)
c.1110T>C (p.Gly370=)
c.1185T>C (p.Gly395=)
c.1032T>C (p.Gly344=)
n.408T>C
5g.93593755T>GCA445722640NR2F1c.705T>G (p.Gly235=)
c.735T>G (p.Gly245=)
c.1110T>G (p.Gly370=)
c.1185T>G (p.Gly395=)
c.1032T>G (p.Gly344=)
n.408T>G
5g.93593756A>CCA360527974NR2F1c.706A>C (p.Lys236Gln)
c.736A>C (p.Lys246Gln)
c.1111A>C (p.Lys371Gln)
c.1186A>C (p.Lys396Gln)
c.1033A>C (p.Lys345Gln)
n.409A>C
5g.93593756A>GCA360527976NR2F1c.706A>G (p.Lys236Glu)
c.736A>G (p.Lys246Glu)
c.1111A>G (p.Lys371Glu)
c.1186A>G (p.Lys396Glu)
c.1033A>G (p.Lys345Glu)
n.409A>G
5g.93593756A>TCA360527975NR2F1c.706A>T (p.Lys236Ter)
c.736A>T (p.Lys246Ter)
c.1111A>T (p.Lys371Ter)
c.1186A>T (p.Lys396Ter)
c.1033A>T (p.Lys345Ter)
n.409A>T
5g.93593757A>CCA360527977NR2F1c.707A>C (p.Lys236Thr)
c.737A>C (p.Lys246Thr)
c.1112A>C (p.Lys371Thr)
c.1187A>C (p.Lys396Thr)
c.1034A>C (p.Lys345Thr)
n.410A>C
5g.93593757A>GCA360527978NR2F1c.707A>G (p.Lys236Arg)
c.737A>G (p.Lys246Arg)
c.1112A>G (p.Lys371Arg)
c.1187A>G (p.Lys396Arg)
c.1034A>G (p.Lys345Arg)
n.410A>G
5g.93593757A>TCA360527979NR2F1c.707A>T (p.Lys236Ile)
c.737A>T (p.Lys246Ile)
c.1112A>T (p.Lys371Ile)
c.1187A>T (p.Lys396Ile)
c.1034A>T (p.Lys345Ile)
n.410A>T
5g.93593758A>CCA360527980NR2F1c.708A>C (p.Lys236Asn)
c.738A>C (p.Lys246Asn)
c.1113A>C (p.Lys371Asn)
c.1188A>C (p.Lys396Asn)
c.1035A>C (p.Lys345Asn)
n.411A>C
5g.93593758A>GCA445722649NR2F1c.708A>G (p.Lys236=)
c.738A>G (p.Lys246=)
c.1113A>G (p.Lys371=)
c.1188A>G (p.Lys396=)
c.1035A>G (p.Lys345=)
n.411A>G
5g.93593758A>TCA360527981NR2F1c.708A>T (p.Lys236Asn)
c.738A>T (p.Lys246Asn)
c.1113A>T (p.Lys371Asn)
c.1188A>T (p.Lys396Asn)
c.1035A>T (p.Lys345Asn)
n.411A>T
5g.93593759A=CA1564188052NR2F1c.709A= (p.Thr237=)
c.739A= (p.Thr247=)
c.1114A= (p.Thr372=)
c.1189A= (p.Thr397=)
c.1036A= (p.Thr346=)
n.412A=
5g.93593759A>CCA360527982NR2F1c.709A>C (p.Thr237Pro)
c.739A>C (p.Thr247Pro)
c.1114A>C (p.Thr372Pro)
c.1189A>C (p.Thr397Pro)
c.1036A>C (p.Thr346Pro)
n.412A>C
 dbSNP
5g.93593759A>GCA360527983NR2F1c.709A>G (p.Thr237Ala)
c.739A>G (p.Thr247Ala)
c.1114A>G (p.Thr372Ala)
c.1189A>G (p.Thr397Ala)
c.1036A>G (p.Thr346Ala)
n.412A>G
5g.93593759A>TCA360527984NR2F1c.709A>T (p.Thr237Ser)
c.739A>T (p.Thr247Ser)
c.1114A>T (p.Thr372Ser)
c.1189A>T (p.Thr397Ser)
c.1036A>T (p.Thr346Ser)
n.412A>T
5g.93593760C>ACA360527985NR2F1c.710C>A (p.Thr237Asn)
c.740C>A (p.Thr247Asn)
c.1115C>A (p.Thr372Asn)
c.1190C>A (p.Thr397Asn)
c.1037C>A (p.Thr346Asn)
n.413C>A
5g.93593760C>GCA360527986NR2F1c.710C>G (p.Thr237Ser)
c.740C>G (p.Thr247Ser)
c.1115C>G (p.Thr372Ser)
c.1190C>G (p.Thr397Ser)
c.1037C>G (p.Thr346Ser)
n.413C>G
5g.93593760C>TCA360527987NR2F1c.710C>T (p.Thr237Ile)
c.740C>T (p.Thr247Ile)
c.1115C>T (p.Thr372Ile)
c.1190C>T (p.Thr397Ile)
c.1037C>T (p.Thr346Ile)
n.413C>T
 COSMIC
5g.93593761C>ACA445722656NR2F1c.711C>A (p.Thr237=)
c.741C>A (p.Thr247=)
c.1116C>A (p.Thr372=)
c.1191C>A (p.Thr397=)
c.1038C>A (p.Thr346=)
n.414C>A
5g.93593761C=CA1564188054NR2F1c.711C= (p.Thr237=)
c.741C= (p.Thr247=)
c.1116C= (p.Thr372=)
c.1191C= (p.Thr397=)
c.1038C= (p.Thr346=)
n.414C=
5g.93593761C>GCA445722658NR2F1c.711C>G (p.Thr237=)
c.741C>G (p.Thr247=)
c.1116C>G (p.Thr372=)
c.1191C>G (p.Thr397=)
c.1038C>G (p.Thr346=)
n.414C>G
5g.93593761C>TCA445722659NR2F1c.711C>T (p.Thr237=)
c.741C>T (p.Thr247=)
c.1116C>T (p.Thr372=)
c.1191C>T (p.Thr397=)
c.1038C>T (p.Thr346=)
n.414C>T
 dbSNP gnomAD v3 gnomAD v4
5g.93593762C>ACA360527990NR2F1c.712C>A (p.Pro238Thr)
c.742C>A (p.Pro248Thr)
c.1117C>A (p.Pro373Thr)
c.1192C>A (p.Pro398Thr)
c.1039C>A (p.Pro347Thr)
n.415C>A
5g.93593762C>GCA360527989NR2F1c.712C>G (p.Pro238Ala)
c.742C>G (p.Pro248Ala)
c.1117C>G (p.Pro373Ala)
c.1192C>G (p.Pro398Ala)
c.1039C>G (p.Pro347Ala)
n.415C>G
 ClinVar
5g.93593762C>TCA360527988NR2F1c.712C>T (p.Pro238Ser)
c.742C>T (p.Pro248Ser)
c.1117C>T (p.Pro373Ser)
c.1192C>T (p.Pro398Ser)
c.1039C>T (p.Pro347Ser)
n.415C>T
5g.93593763C>ACA360527991NR2F1c.713C>A (p.Pro238His)
c.743C>A (p.Pro248His)
c.1118C>A (p.Pro373His)
c.1193C>A (p.Pro398His)
c.1040C>A (p.Pro347His)
n.416C>A
5g.93593763C>GCA360527993NR2F1c.713C>G (p.Pro238Arg)
c.743C>G (p.Pro248Arg)
c.1118C>G (p.Pro373Arg)
c.1193C>G (p.Pro398Arg)
c.1040C>G (p.Pro347Arg)
n.416C>G
5g.93593763C>TCA360527992NR2F1c.713C>T (p.Pro238Leu)
c.743C>T (p.Pro248Leu)
c.1118C>T (p.Pro373Leu)
c.1193C>T (p.Pro398Leu)
c.1040C>T (p.Pro347Leu)
n.416C>T
5g.93593764C>ACA445722661NR2F1c.714C>A (p.Pro238=)
c.744C>A (p.Pro248=)
c.1119C>A (p.Pro373=)
c.1194C>A (p.Pro398=)
c.1041C>A (p.Pro347=)
n.417C>A
 dbSNP gnomAD v4
5g.93593764C=CA1564188057NR2F1c.714C= (p.Pro238=)
c.744C= (p.Pro248=)
c.1119C= (p.Pro373=)
c.1194C= (p.Pro398=)
c.1041C= (p.Pro347=)
n.417C=
5g.93593764C>GCA445722664NR2F1c.714C>G (p.Pro238=)
c.744C>G (p.Pro248=)
c.1119C>G (p.Pro373=)
c.1194C>G (p.Pro398=)
c.1041C>G (p.Pro347=)
n.417C>G
5g.93593764C>TCA123267086NR2F1c.714C>T (p.Pro238=)
c.744C>T (p.Pro248=)
c.1119C>T (p.Pro373=)
c.1194C>T (p.Pro398=)
c.1041C>T (p.Pro347=)
n.417C>T
 dbSNP
5g.93593765A>CCA360527994NR2F1c.715A>C (p.Ile239Leu)
c.745A>C (p.Ile249Leu)
c.1120A>C (p.Ile374Leu)
c.1195A>C (p.Ile399Leu)
c.1042A>C (p.Ile348Leu)
n.418A>C
5g.93593765A>GCA360527995NR2F1c.715A>G (p.Ile239Val)
c.745A>G (p.Ile249Val)
c.1120A>G (p.Ile374Val)
c.1195A>G (p.Ile399Val)
c.1042A>G (p.Ile348Val)
n.418A>G
5g.93593765A>TCA360527996NR2F1c.715A>T (p.Ile239Phe)
c.745A>T (p.Ile249Phe)
c.1120A>T (p.Ile374Phe)
c.1195A>T (p.Ile399Phe)
c.1042A>T (p.Ile348Phe)
n.418A>T
5g.93593766T>ACA360527997NR2F1c.716T>A (p.Ile239Asn)
c.746T>A (p.Ile249Asn)
c.1121T>A (p.Ile374Asn)
c.1196T>A (p.Ile399Asn)
c.1043T>A (p.Ile348Asn)
n.419T>A
5g.93593766T>CCA360527998NR2F1c.716T>C (p.Ile239Thr)
c.746T>C (p.Ile249Thr)
c.1121T>C (p.Ile374Thr)
c.1196T>C (p.Ile399Thr)
c.1043T>C (p.Ile348Thr)
n.419T>C
5g.93593766T>GCA360527999NR2F1c.716T>G (p.Ile239Ser)
c.746T>G (p.Ile249Ser)
c.1121T>G (p.Ile374Ser)
c.1196T>G (p.Ile399Ser)
c.1043T>G (p.Ile348Ser)
n.419T>G
5g.93593767C>ACA445722668NR2F1c.717C>A (p.Ile239=)
c.747C>A (p.Ile249=)
c.1122C>A (p.Ile374=)
c.1197C>A (p.Ile399=)
c.1044C>A (p.Ile348=)
n.420C>A
5g.93593767C=CA1564188061NR2F1c.717C= (p.Ile239=)
c.747C= (p.Ile249=)
c.1122C= (p.Ile374=)
c.1197C= (p.Ile399=)
c.1044C= (p.Ile348=)
n.420C=
5g.93593767C>GCA360528000NR2F1c.717C>G (p.Ile239Met)
c.747C>G (p.Ile249Met)
c.1122C>G (p.Ile374Met)
c.1197C>G (p.Ile399Met)
c.1044C>G (p.Ile348Met)
n.420C>G
5g.93593767C>TCA3343250NR2F1c.717C>T (p.Ile239=)
c.747C>T (p.Ile249=)
c.1122C>T (p.Ile374=)
c.1197C>T (p.Ile399=)
c.1044C>T (p.Ile348=)
n.420C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93593768G>ACA360528001NR2F1c.718G>A (p.Glu240Lys)
c.748G>A (p.Glu250Lys)
c.1123G>A (p.Glu375Lys)
c.1198G>A (p.Glu400Lys)
c.1045G>A (p.Glu349Lys)
n.421G>A
 gnomAD v4 COSMIC
5g.93593768G>CCA360528002NR2F1c.718G>C (p.Glu240Gln)
c.748G>C (p.Glu250Gln)
c.1123G>C (p.Glu375Gln)
c.1198G>C (p.Glu400Gln)
c.1045G>C (p.Glu349Gln)
n.421G>C
5g.93593768G>TCA360528003NR2F1c.718G>T (p.Glu240Ter)
c.748G>T (p.Glu250Ter)
c.1123G>T (p.Glu375Ter)
c.1198G>T (p.Glu400Ter)
c.1045G>T (p.Glu349Ter)
n.421G>T
5g.93593769A=CA1564188068NR2F1c.719A= (p.Glu240=)
c.749A= (p.Glu250=)
c.1124A= (p.Glu375=)
c.1199A= (p.Glu400=)
c.1046A= (p.Glu349=)
n.422A=
5g.93593769A>CCA360528006NR2F1c.719A>C (p.Glu240Ala)
c.749A>C (p.Glu250Ala)
c.1124A>C (p.Glu375Ala)
c.1199A>C (p.Glu400Ala)
c.1046A>C (p.Glu349Ala)
n.422A>C
5g.93593769A>GCA360528004NR2F1c.719A>G (p.Glu240Gly)
c.749A>G (p.Glu250Gly)
c.1124A>G (p.Glu375Gly)
c.1199A>G (p.Glu400Gly)
c.1046A>G (p.Glu349Gly)
n.422A>G
5g.93593769A>TCA360528005NR2F1c.719A>T (p.Glu240Val)
c.749A>T (p.Glu250Val)
c.1124A>T (p.Glu375Val)
c.1199A>T (p.Glu400Val)
c.1046A>T (p.Glu349Val)
n.422A>T
 dbSNP
5g.93593770A>CCA360528007NR2F1c.720A>C (p.Glu240Asp)
c.750A>C (p.Glu250Asp)
c.1125A>C (p.Glu375Asp)
c.1200A>C (p.Glu400Asp)
c.1047A>C (p.Glu349Asp)
n.423A>C
5g.93593770A>GCA445722680NR2F1c.720A>G (p.Glu240=)
c.750A>G (p.Glu250=)
c.1125A>G (p.Glu375=)
c.1200A>G (p.Glu400=)
c.1047A>G (p.Glu349=)
n.423A>G
 gnomAD v4
5g.93593770A>TCA360528008NR2F1c.720A>T (p.Glu240Asp)
c.750A>T (p.Glu250Asp)
c.1125A>T (p.Glu375Asp)
c.1200A>T (p.Glu400Asp)
c.1047A>T (p.Glu349Asp)
n.423A>T
5g.93593771A>CCA360528009NR2F1c.721A>C (p.Thr241Pro)
c.751A>C (p.Thr251Pro)
c.1126A>C (p.Thr376Pro)
c.1201A>C (p.Thr401Pro)
c.1048A>C (p.Thr350Pro)
n.424A>C
5g.93593771A>GCA360528010NR2F1c.721A>G (p.Thr241Ala)
c.751A>G (p.Thr251Ala)
c.1126A>G (p.Thr376Ala)
c.1201A>G (p.Thr401Ala)
c.1048A>G (p.Thr350Ala)
n.424A>G
5g.93593771A>TCA360528011NR2F1c.721A>T (p.Thr241Ser)
c.751A>T (p.Thr251Ser)
c.1126A>T (p.Thr376Ser)
c.1201A>T (p.Thr401Ser)
c.1048A>T (p.Thr350Ser)
n.424A>T
5g.93593772C>ACA360528012NR2F1c.722C>A (p.Thr241Asn)
c.752C>A (p.Thr251Asn)
c.1127C>A (p.Thr376Asn)
c.1202C>A (p.Thr401Asn)
c.1049C>A (p.Thr350Asn)
n.425C>A
 gnomAD v4
5g.93593772C>GCA360528013NR2F1c.722C>G (p.Thr241Ser)
c.752C>G (p.Thr251Ser)
c.1127C>G (p.Thr376Ser)
c.1202C>G (p.Thr401Ser)
c.1049C>G (p.Thr350Ser)
n.425C>G
5g.93593772C>TCA360528014NR2F1c.722C>T (p.Thr241Ile)
c.752C>T (p.Thr251Ile)
c.1127C>T (p.Thr376Ile)
c.1202C>T (p.Thr401Ile)
c.1049C>T (p.Thr350Ile)
n.425C>T
5g.93593775_93593776delCA2582341593NR2F1c.725_726del (p.Leu242HisfsTer?)
c.755_756del (p.Leu252HisfsTer?)
c.1130_1131del (p.Leu377HisfsTer?)
c.1205_1206del (p.Leu402HisfsTer?)
c.1052_1053del (p.Leu351HisfsTer?)
n.428_429del
 ClinVar
5g.93593773T>ACA445722689NR2F1c.723T>A (p.Thr241=)
c.753T>A (p.Thr251=)
c.1128T>A (p.Thr376=)
c.1203T>A (p.Thr401=)
c.1050T>A (p.Thr350=)
n.426T>A
5g.93593773T>CCA445722686NR2F1c.723T>C (p.Thr241=)
c.753T>C (p.Thr251=)
c.1128T>C (p.Thr376=)
c.1203T>C (p.Thr401=)
c.1050T>C (p.Thr350=)
n.426T>C
5g.93593773T>GCA445722688NR2F1c.723T>G (p.Thr241=)
c.753T>G (p.Thr251=)
c.1128T>G (p.Thr376=)
c.1203T>G (p.Thr401=)
c.1050T>G (p.Thr350=)
n.426T>G
5g.93593774C>ACA360528015NR2F1c.724C>A (p.Leu242Ile)
c.754C>A (p.Leu252Ile)
c.1129C>A (p.Leu377Ile)
c.1204C>A (p.Leu402Ile)
c.1051C>A (p.Leu351Ile)
n.427C>A
5g.93593774C>GCA360528016NR2F1c.724C>G (p.Leu242Val)
c.754C>G (p.Leu252Val)
c.1129C>G (p.Leu377Val)
c.1204C>G (p.Leu402Val)
c.1051C>G (p.Leu351Val)
n.427C>G
5g.93593774C>TCA360528017NR2F1c.724C>T (p.Leu242Phe)
c.754C>T (p.Leu252Phe)
c.1129C>T (p.Leu377Phe)
c.1204C>T (p.Leu402Phe)
c.1051C>T (p.Leu351Phe)
n.427C>T
5g.93593775T>ACA360528019NR2F1c.725T>A (p.Leu242His)
c.755T>A (p.Leu252His)
c.1130T>A (p.Leu377His)
c.1205T>A (p.Leu402His)
c.1052T>A (p.Leu351His)
n.428T>A
5g.93593775T>CCA360528020NR2F1c.725T>C (p.Leu242Pro)
c.755T>C (p.Leu252Pro)
c.1130T>C (p.Leu377Pro)
c.1205T>C (p.Leu402Pro)
c.1052T>C (p.Leu351Pro)
n.428T>C
5g.93593775T>GCA360528018NR2F1c.725T>G (p.Leu242Arg)
c.755T>G (p.Leu252Arg)
c.1130T>G (p.Leu377Arg)
c.1205T>G (p.Leu402Arg)
c.1052T>G (p.Leu351Arg)
n.428T>G
 ClinVar
5g.93593777_93593779delCA2573052549NR2F1c.727_729del (p.Ile243del)
c.757_759del (p.Ile253del)
c.1132_1134del (p.Ile378del)
c.1207_1209del (p.Ile403del)
c.1054_1056del (p.Ile352del)
n.430_432del
 ClinVar dbSNP
5g.93593776C>ACA445722141NR2F1c.726C>A (p.Leu242=)
c.756C>A (p.Leu252=)
c.1131C>A (p.Leu377=)
c.1206C>A (p.Leu402=)
c.1053C>A (p.Leu351=)
n.429C>A
 dbSNP gnomAD v2 gnomAD v4
5g.93593776C=CA1564188075NR2F1c.726C= (p.Leu242=)
c.756C= (p.Leu252=)
c.1131C= (p.Leu377=)
c.1206C= (p.Leu402=)
c.1053C= (p.Leu351=)
n.429C=
5g.93593776C>GCA445722142NR2F1c.726C>G (p.Leu242=)
c.756C>G (p.Leu252=)
c.1131C>G (p.Leu377=)
c.1206C>G (p.Leu402=)
c.1053C>G (p.Leu351=)
n.429C>G
5g.93593776C>TCA445722143NR2F1c.726C>T (p.Leu242=)
c.756C>T (p.Leu252=)
c.1131C>T (p.Leu377=)
c.1206C>T (p.Leu402=)
c.1053C>T (p.Leu351=)
n.429C>T
5g.93593777A=CA1564188078NR2F1c.727A= (p.Ile243=)
c.757A= (p.Ile253=)
c.1132A= (p.Ile378=)
c.1207A= (p.Ile403=)
c.1054A= (p.Ile352=)
n.430A=
5g.93593777A>CCA360528021NR2F1c.727A>C (p.Ile243Leu)
c.757A>C (p.Ile253Leu)
c.1132A>C (p.Ile378Leu)
c.1207A>C (p.Ile403Leu)
c.1054A>C (p.Ile352Leu)
n.430A>C
5g.93593777A>GCA123267087NR2F1c.727A>G (p.Ile243Val)
c.757A>G (p.Ile253Val)
c.1132A>G (p.Ile378Val)
c.1207A>G (p.Ile403Val)
c.1054A>G (p.Ile352Val)
n.430A>G
 dbSNP gnomAD v3 gnomAD v4
5g.93593777A>TCA360528022NR2F1c.727A>T (p.Ile243Phe)
c.757A>T (p.Ile253Phe)
c.1132A>T (p.Ile378Phe)
c.1207A>T (p.Ile403Phe)
c.1054A>T (p.Ile352Phe)
n.430A>T
5g.93593778T>ACA360528023NR2F1c.728T>A (p.Ile243Asn)
c.758T>A (p.Ile253Asn)
c.1133T>A (p.Ile378Asn)
c.1208T>A (p.Ile403Asn)
c.1055T>A (p.Ile352Asn)
n.431T>A
5g.93593778T>CCA360528024NR2F1c.728T>C (p.Ile243Thr)
c.758T>C (p.Ile253Thr)
c.1133T>C (p.Ile378Thr)
c.1208T>C (p.Ile403Thr)
c.1055T>C (p.Ile352Thr)
n.431T>C
5g.93593778T>GCA360528025NR2F1c.728T>G (p.Ile243Ser)
c.758T>G (p.Ile253Ser)
c.1133T>G (p.Ile378Ser)
c.1208T>G (p.Ile403Ser)
c.1055T>G (p.Ile352Ser)
n.431T>G
5g.93593779C>ACA445722148NR2F1c.729C>A (p.Ile243=)
c.759C>A (p.Ile253=)
c.1134C>A (p.Ile378=)
c.1209C>A (p.Ile403=)
c.1056C>A (p.Ile352=)
n.432C>A
5g.93593779C=CA1564188081NR2F1c.729C= (p.Ile243=)
c.759C= (p.Ile253=)
c.1134C= (p.Ile378=)
c.1209C= (p.Ile403=)
c.1056C= (p.Ile352=)
n.432C=
5g.93593779C>GCA360528026NR2F1c.729C>G (p.Ile243Met)
c.759C>G (p.Ile253Met)
c.1134C>G (p.Ile378Met)
c.1209C>G (p.Ile403Met)
c.1056C>G (p.Ile352Met)
n.432C>G
 dbSNP gnomAD v2 gnomAD v4
5g.93593779C>TCA3343251NR2F1c.729C>T (p.Ile243=)
c.759C>T (p.Ile253=)
c.1134C>T (p.Ile378=)
c.1209C>T (p.Ile403=)
c.1056C>T (p.Ile352=)
n.432C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93593780C>ACA360528027NR2F1c.730C>A (p.Arg244Ser)
c.760C>A (p.Arg254Ser)
c.1135C>A (p.Arg379Ser)
c.1210C>A (p.Arg404Ser)
c.1057C>A (p.Arg353Ser)
n.433C>A
 COSMIC
5g.93593780C>GCA360528028NR2F1c.730C>G (p.Arg244Gly)
c.760C>G (p.Arg254Gly)
c.1135C>G (p.Arg379Gly)
c.1210C>G (p.Arg404Gly)
c.1057C>G (p.Arg353Gly)
n.433C>G
 gnomAD v4
5g.93593780C>TCA360528029NR2F1c.730C>T (p.Arg244Cys)
c.760C>T (p.Arg254Cys)
c.1135C>T (p.Arg379Cys)
c.1210C>T (p.Arg404Cys)
c.1057C>T (p.Arg353Cys)
n.433C>T
 gnomAD v4 COSMIC
5g.93593781G>ACA360528030NR2F1c.731G>A (p.Arg244His)
c.761G>A (p.Arg254His)
c.1136G>A (p.Arg379His)
c.1211G>A (p.Arg404His)
c.1058G>A (p.Arg353His)
n.434G>A
 dbSNP gnomAD v4 COSMIC
5g.93593781G>CCA360528031NR2F1c.731G>C (p.Arg244Pro)
c.761G>C (p.Arg254Pro)
c.1136G>C (p.Arg379Pro)
c.1211G>C (p.Arg404Pro)
c.1058G>C (p.Arg353Pro)
n.434G>C
5g.93593781G=CA1564188085NR2F1c.731G= (p.Arg244=)
c.761G= (p.Arg254=)
c.1136G= (p.Arg379=)
c.1211G= (p.Arg404=)
c.1058G= (p.Arg353=)
n.434G=
5g.93593781G>TCA360528032NR2F1c.731G>T (p.Arg244Leu)
c.761G>T (p.Arg254Leu)
c.1136G>T (p.Arg379Leu)
c.1211G>T (p.Arg404Leu)
c.1058G>T (p.Arg353Leu)
n.434G>T
5g.93593782C>ACA445722152NR2F1c.732C>A (p.Arg244=)
c.762C>A (p.Arg254=)
c.1137C>A (p.Arg379=)
c.1212C>A (p.Arg404=)
c.1059C>A (p.Arg353=)
n.435C>A
 ClinVar
5g.93593782C=CA1564188088NR2F1c.732C= (p.Arg244=)
c.762C= (p.Arg254=)
c.1137C= (p.Arg379=)
c.1212C= (p.Arg404=)
c.1059C= (p.Arg353=)
n.435C=
5g.93593782C>GCA445722153NR2F1c.732C>G (p.Arg244=)
c.762C>G (p.Arg254=)
c.1137C>G (p.Arg379=)
c.1212C>G (p.Arg404=)
c.1059C>G (p.Arg353=)
n.435C>G
 gnomAD v4
5g.93593782C>TCA3343252NR2F1c.732C>T (p.Arg244=)
c.762C>T (p.Arg254=)
c.1137C>T (p.Arg379=)
c.1212C>T (p.Arg404=)
c.1059C>T (p.Arg353=)
n.435C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.93593783G>ACA360528033NR2F1c.733G>A (p.Asp245Asn)
c.763G>A (p.Asp255Asn)
c.1138G>A (p.Asp380Asn)
c.1213G>A (p.Asp405Asn)
c.1060G>A (p.Asp354Asn)
n.436G>A
 gnomAD v4
5g.93593783G>CCA360528034NR2F1c.733G>C (p.Asp245His)
c.763G>C (p.Asp255His)
c.1138G>C (p.Asp380His)
c.1213G>C (p.Asp405His)
c.1060G>C (p.Asp354His)
n.436G>C
5g.93593783G>TCA360528035NR2F1c.733G>T (p.Asp245Tyr)
c.763G>T (p.Asp255Tyr)
c.1138G>T (p.Asp380Tyr)
c.1213G>T (p.Asp405Tyr)
c.1060G>T (p.Asp354Tyr)
n.436G>T
5g.93593784A=CA1564188091NR2F1c.734A= (p.Asp245=)
c.764A= (p.Asp255=)
c.1139A= (p.Asp380=)
c.1214A= (p.Asp405=)
c.1061A= (p.Asp354=)
n.437A=
5g.93593784A>CCA360528036NR2F1c.734A>C (p.Asp245Ala)
c.764A>C (p.Asp255Ala)
c.1139A>C (p.Asp380Ala)
c.1214A>C (p.Asp405Ala)
c.1061A>C (p.Asp354Ala)
n.437A>C
5g.93593784A>GCA3343253NR2F1c.734A>G (p.Asp245Gly)
c.764A>G (p.Asp255Gly)
c.1139A>G (p.Asp380Gly)
c.1214A>G (p.Asp405Gly)
c.1061A>G (p.Asp354Gly)
n.437A>G
 dbSNP ExAC gnomAD v2
5g.93593784A>TCA360528037NR2F1c.734A>T (p.Asp245Val)
c.764A>T (p.Asp255Val)
c.1139A>T (p.Asp380Val)
c.1214A>T (p.Asp405Val)
c.1061A>T (p.Asp354Val)
n.437A>T
5g.93593785T>ACA360528038NR2F1c.735T>A (p.Asp245Glu)
c.765T>A (p.Asp255Glu)
c.1140T>A (p.Asp380Glu)
c.1215T>A (p.Asp405Glu)
c.1062T>A (p.Asp354Glu)
n.438T>A
5g.93593785T>CCA445722155NR2F1c.735T>C (p.Asp245=)
c.765T>C (p.Asp255=)
c.1140T>C (p.Asp380=)
c.1215T>C (p.Asp405=)
c.1062T>C (p.Asp354=)
n.438T>C
5g.93593785T>GCA360528039NR2F1c.735T>G (p.Asp245Glu)
c.765T>G (p.Asp255Glu)
c.1140T>G (p.Asp380Glu)
c.1215T>G (p.Asp405Glu)
c.1062T>G (p.Asp354Glu)
n.438T>G
5g.93593786A>CCA360528040NR2F1c.736A>C (p.Met246Leu)
c.766A>C (p.Met256Leu)
c.1141A>C (p.Met381Leu)
c.1216A>C (p.Met406Leu)
c.1063A>C (p.Met355Leu)
n.439A>C
5g.93593786A>GCA360528041NR2F1c.736A>G (p.Met246Val)
c.766A>G (p.Met256Val)
c.1141A>G (p.Met381Val)
c.1216A>G (p.Met406Val)
c.1063A>G (p.Met355Val)
n.439A>G
5g.93593786A>TCA360528042NR2F1c.736A>T (p.Met246Leu)
c.766A>T (p.Met256Leu)
c.1141A>T (p.Met381Leu)
c.1216A>T (p.Met406Leu)
c.1063A>T (p.Met355Leu)
n.439A>T
5g.93593787T>ACA360528043NR2F1c.737T>A (p.Met246Lys)
c.767T>A (p.Met256Lys)
c.1142T>A (p.Met381Lys)
c.1217T>A (p.Met406Lys)
c.1064T>A (p.Met355Lys)
n.440T>A
5g.93593787T>CCA16616906NR2F1c.737T>C (p.Met246Thr)
c.767T>C (p.Met256Thr)
c.1142T>C (p.Met381Thr)
c.1217T>C (p.Met406Thr)
c.1064T>C (p.Met355Thr)
n.440T>C
 ClinVar dbSNP
5g.93593787T>GCA360528044NR2F1c.737T>G (p.Met246Arg)
c.767T>G (p.Met256Arg)
c.1142T>G (p.Met381Arg)
c.1217T>G (p.Met406Arg)
c.1064T>G (p.Met355Arg)
n.440T>G
5g.93593787T=CA1564188094NR2F1c.737T= (p.Met246=)
c.767T= (p.Met256=)
c.1142T= (p.Met381=)
c.1217T= (p.Met406=)
c.1064T= (p.Met355=)
n.440T=
5g.93593788G>ACA360528047NR2F1c.738G>A (p.Met246Ile)
c.768G>A (p.Met256Ile)
c.1143G>A (p.Met381Ile)
c.1218G>A (p.Met406Ile)
c.1065G>A (p.Met355Ile)
n.441G>A
5g.93593788G>CCA360528046NR2F1c.738G>C (p.Met246Ile)
c.768G>C (p.Met256Ile)
c.1143G>C (p.Met381Ile)
c.1218G>C (p.Met406Ile)
c.1065G>C (p.Met355Ile)
n.441G>C
5g.93593788G>TCA360528045NR2F1c.738G>T (p.Met246Ile)
c.768G>T (p.Met256Ile)
c.1143G>T (p.Met381Ile)
c.1218G>T (p.Met406Ile)
c.1065G>T (p.Met355Ile)
n.441G>T
 gnomAD v4
5g.93593789T>ACA360528048NR2F1c.739T>A (p.Leu247Ile)
c.769T>A (p.Leu257Ile)
c.1144T>A (p.Leu382Ile)
c.1219T>A (p.Leu407Ile)
c.1066T>A (p.Leu356Ile)
n.442T>A
5g.93593789T>CCA3343254NR2F1c.739T>C (p.Leu247=)
c.769T>C (p.Leu257=)
c.1144T>C (p.Leu382=)
c.1219T>C (p.Leu407=)
c.1066T>C (p.Leu356=)
n.442T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93593789T>GCA360528049NR2F1c.739T>G (p.Leu247Val)
c.769T>G (p.Leu257Val)
c.1144T>G (p.Leu382Val)
c.1219T>G (p.Leu407Val)
c.1066T>G (p.Leu356Val)
n.442T>G
 gnomAD v4
5g.93593789T=CA1564188100NR2F1c.739T= (p.Leu247=)
c.769T= (p.Leu257=)
c.1144T= (p.Leu382=)
c.1219T= (p.Leu407=)
c.1066T= (p.Leu356=)
n.442T=
5g.93593790T>ACA360528050NR2F1c.740T>A (p.Leu247Ter)
c.770T>A (p.Leu257Ter)
c.1145T>A (p.Leu382Ter)
c.1220T>A (p.Leu407Ter)
c.1067T>A (p.Leu356Ter)
n.443T>A
5g.93593790T>CCA360528052NR2F1c.740T>C (p.Leu247Ser)
c.770T>C (p.Leu257Ser)
c.1145T>C (p.Leu382Ser)
c.1220T>C (p.Leu407Ser)
c.1067T>C (p.Leu356Ser)
n.443T>C
5g.93593790T>GCA360528051NR2F1c.740T>G (p.Leu247Ter)
c.770T>G (p.Leu257Ter)
c.1145T>G (p.Leu382Ter)
c.1220T>G (p.Leu407Ter)
c.1067T>G (p.Leu356Ter)
n.443T>G
5g.93593791A>CCA360528053NR2F1c.741A>C (p.Leu247Phe)
c.771A>C (p.Leu257Phe)
c.1146A>C (p.Leu382Phe)
c.1221A>C (p.Leu407Phe)
c.1068A>C (p.Leu356Phe)
n.444A>C
5g.93593791A>GCA445722167NR2F1c.741A>G (p.Leu247=)
c.771A>G (p.Leu257=)
c.1146A>G (p.Leu382=)
c.1221A>G (p.Leu407=)
c.1068A>G (p.Leu356=)
n.444A>G
5g.93593791A>TCA360528054NR2F1c.741A>T (p.Leu247Phe)
c.771A>T (p.Leu257Phe)
c.1146A>T (p.Leu382Phe)
c.1221A>T (p.Leu407Phe)
c.1068A>T (p.Leu356Phe)
n.444A>T
5g.93593792C>ACA360528055NR2F1c.742C>A (p.Leu248Met)
c.772C>A (p.Leu258Met)
c.1147C>A (p.Leu383Met)
c.1222C>A (p.Leu408Met)
c.1069C>A (p.Leu357Met)
n.445C>A
 COSMIC
5g.93593792C>GCA360528056NR2F1c.742C>G (p.Leu248Val)
c.772C>G (p.Leu258Val)
c.1147C>G (p.Leu383Val)
c.1222C>G (p.Leu408Val)
c.1069C>G (p.Leu357Val)
n.445C>G
5g.93593792C>TCA445722168NR2F1c.742C>T (p.Leu248=)
c.772C>T (p.Leu258=)
c.1147C>T (p.Leu383=)
c.1222C>T (p.Leu408=)
c.1069C>T (p.Leu357=)
n.445C>T
 gnomAD v4
5g.93593793T>ACA360528057NR2F1c.743T>A (p.Leu248Gln)
c.773T>A (p.Leu258Gln)
c.1148T>A (p.Leu383Gln)
c.1223T>A (p.Leu408Gln)
c.1070T>A (p.Leu357Gln)
n.446T>A
5g.93593793T>CCA360528058NR2F1c.743T>C (p.Leu248Pro)
c.773T>C (p.Leu258Pro)
c.1148T>C (p.Leu383Pro)
c.1223T>C (p.Leu408Pro)
c.1070T>C (p.Leu357Pro)
n.446T>C
5g.93593793T>GCA360528059NR2F1c.743T>G (p.Leu248Arg)
c.773T>G (p.Leu258Arg)
c.1148T>G (p.Leu383Arg)
c.1223T>G (p.Leu408Arg)
c.1070T>G (p.Leu357Arg)
n.446T>G
5g.93593794G>ACA445722171NR2F1c.744G>A (p.Leu248=)
c.774G>A (p.Leu258=)
c.1149G>A (p.Leu383=)
c.1224G>A (p.Leu408=)
c.1071G>A (p.Leu357=)
n.447G>A
5g.93593794G>CCA445722170NR2F1c.744G>C (p.Leu248=)
c.774G>C (p.Leu258=)
c.1149G>C (p.Leu383=)
c.1224G>C (p.Leu408=)
c.1071G>C (p.Leu357=)
n.447G>C
5g.93593794G>TCA445722169NR2F1c.744G>T (p.Leu248=)
c.774G>T (p.Leu258=)
c.1149G>T (p.Leu383=)
c.1224G>T (p.Leu408=)
c.1071G>T (p.Leu357=)
n.447G>T
5g.93593795T>ACA360528060NR2F1c.745T>A (p.Ser249Thr)
c.775T>A (p.Ser259Thr)
c.1150T>A (p.Ser384Thr)
c.1225T>A (p.Ser409Thr)
c.1072T>A (p.Ser358Thr)
n.448T>A
5g.93593795T>CCA360528061NR2F1c.745T>C (p.Ser249Pro)
c.775T>C (p.Ser259Pro)
c.1150T>C (p.Ser384Pro)
c.1225T>C (p.Ser409Pro)
c.1072T>C (p.Ser358Pro)
n.448T>C
5g.93593795T>GCA360528062NR2F1c.745T>G (p.Ser249Ala)
c.775T>G (p.Ser259Ala)
c.1150T>G (p.Ser384Ala)
c.1225T>G (p.Ser409Ala)
c.1072T>G (p.Ser358Ala)
n.448T>G
5g.93593796C>ACA360528063NR2F1c.746C>A (p.Ser249Tyr)
c.776C>A (p.Ser259Tyr)
c.1151C>A (p.Ser384Tyr)
c.1226C>A (p.Ser409Tyr)
c.1073C>A (p.Ser358Tyr)
n.449C>A
5g.93593796C>GCA360528064NR2F1c.746C>G (p.Ser249Cys)
c.776C>G (p.Ser259Cys)
c.1151C>G (p.Ser384Cys)
c.1226C>G (p.Ser409Cys)
c.1073C>G (p.Ser358Cys)
n.449C>G
 gnomAD v4
5g.93593796C>TCA360528065NR2F1c.746C>T (p.Ser249Phe)
c.776C>T (p.Ser259Phe)
c.1151C>T (p.Ser384Phe)
c.1226C>T (p.Ser409Phe)
c.1073C>T (p.Ser358Phe)
n.449C>T
5g.93593797T>ACA445722175NR2F1c.747T>A (p.Ser249=)
c.777T>A (p.Ser259=)
c.1152T>A (p.Ser384=)
c.1227T>A (p.Ser409=)
c.1074T>A (p.Ser358=)
n.450T>A
5g.93593797T>CCA445722176NR2F1c.747T>C (p.Ser249=)
c.777T>C (p.Ser259=)
c.1152T>C (p.Ser384=)
c.1227T>C (p.Ser409=)
c.1074T>C (p.Ser358=)
n.450T>C
5g.93593797T>GCA445722178NR2F1c.747T>G (p.Ser249=)
c.777T>G (p.Ser259=)
c.1152T>G (p.Ser384=)
c.1227T>G (p.Ser409=)
c.1074T>G (p.Ser358=)
n.450T>G
5g.93593798G>ACA360528068NR2F1c.748G>A (p.Gly250Arg)
c.778G>A (p.Gly260Arg)
c.1153G>A (p.Gly385Arg)
c.1228G>A (p.Gly410Arg)
c.1075G>A (p.Gly359Arg)
n.451G>A
5g.93593798G>CCA360528066NR2F1c.748G>C (p.Gly250Arg)
c.778G>C (p.Gly260Arg)
c.1153G>C (p.Gly385Arg)
c.1228G>C (p.Gly410Arg)
c.1075G>C (p.Gly359Arg)
n.451G>C
5g.93593798G>TCA360528067NR2F1c.748G>T (p.Gly250Trp)
c.778G>T (p.Gly260Trp)
c.1153G>T (p.Gly385Trp)
c.1228G>T (p.Gly410Trp)
c.1075G>T (p.Gly359Trp)
n.451G>T
5g.93593799G>ACA360528069NR2F1c.749G>A (p.Gly250Glu)
c.779G>A (p.Gly260Glu)
c.1154G>A (p.Gly385Glu)
c.1229G>A (p.Gly410Glu)
c.1076G>A (p.Gly359Glu)
n.452G>A
5g.93593799G>CCA360528070NR2F1c.749G>C (p.Gly250Ala)
c.779G>C (p.Gly260Ala)
c.1154G>C (p.Gly385Ala)
c.1229G>C (p.Gly410Ala)
c.1076G>C (p.Gly359Ala)
n.452G>C
5g.93593799G>TCA360528071NR2F1c.749G>T (p.Gly250Val)
c.779G>T (p.Gly260Val)
c.1154G>T (p.Gly385Val)
c.1229G>T (p.Gly410Val)
c.1076G>T (p.Gly359Val)
n.452G>T
5g.93593800G>ACA445722186NR2F1c.750G>A (p.Gly250=)
c.780G>A (p.Gly260=)
c.1155G>A (p.Gly385=)
c.1230G>A (p.Gly410=)
c.1077G>A (p.Gly359=)
n.453G>A
 gnomAD v4
5g.93593800G>CCA445722189NR2F1c.750G>C (p.Gly250=)
c.780G>C (p.Gly260=)
c.1155G>C (p.Gly385=)
c.1230G>C (p.Gly410=)
c.1077G>C (p.Gly359=)
n.453G>C
5g.93593800G>TCA445722188NR2F1c.750G>T (p.Gly250=)
c.780G>T (p.Gly260=)
c.1155G>T (p.Gly385=)
c.1230G>T (p.Gly410=)
c.1077G>T (p.Gly359=)
n.453G>T
5g.93593801A>CCA360528072NR2F1c.751A>C (p.Ser251Arg)
c.781A>C (p.Ser261Arg)
c.1156A>C (p.Ser386Arg)
c.1231A>C (p.Ser411Arg)
c.1078A>C (p.Ser360Arg)
n.454A>C
5g.93593801A>GCA360528073NR2F1c.751A>G (p.Ser251Gly)
c.781A>G (p.Ser261Gly)
c.1156A>G (p.Ser386Gly)
c.1231A>G (p.Ser411Gly)
c.1078A>G (p.Ser360Gly)
n.454A>G
 ClinVar
5g.93593801A>TCA360528074NR2F1c.751A>T (p.Ser251Cys)
c.781A>T (p.Ser261Cys)
c.1156A>T (p.Ser386Cys)
c.1231A>T (p.Ser411Cys)
c.1078A>T (p.Ser360Cys)
n.454A>T
5g.93593802G>ACA360528075NR2F1c.752G>A (p.Ser251Asn)
c.782G>A (p.Ser261Asn)
c.1157G>A (p.Ser386Asn)
c.1232G>A (p.Ser411Asn)
c.1079G>A (p.Ser360Asn)
n.455G>A
5g.93593802G>CCA360528076NR2F1c.752G>C (p.Ser251Thr)
c.782G>C (p.Ser261Thr)
c.1157G>C (p.Ser386Thr)
c.1232G>C (p.Ser411Thr)
c.1079G>C (p.Ser360Thr)
n.455G>C
5g.93593802G>TCA360528077NR2F1c.752G>T (p.Ser251Ile)
c.782G>T (p.Ser261Ile)
c.1157G>T (p.Ser386Ile)
c.1232G>T (p.Ser411Ile)
c.1079G>T (p.Ser360Ile)
n.455G>T
5g.93593803C>ACA360528078NR2F1c.753C>A (p.Ser251Arg)
c.783C>A (p.Ser261Arg)
c.1158C>A (p.Ser386Arg)
c.1233C>A (p.Ser411Arg)
c.1080C>A (p.Ser360Arg)
n.456C>A
5g.93593803C>GCA360528079NR2F1c.753C>G (p.Ser251Arg)
c.783C>G (p.Ser261Arg)
c.1158C>G (p.Ser386Arg)
c.1233C>G (p.Ser411Arg)
c.1080C>G (p.Ser360Arg)
n.456C>G
5g.93593803C>TCA445722192NR2F1c.753C>T (p.Ser251=)
c.783C>T (p.Ser261=)
c.1158C>T (p.Ser386=)
c.1233C>T (p.Ser411=)
c.1080C>T (p.Ser360=)
n.456C>T
5g.93593804A>CCA360528080NR2F1c.754A>C (p.Ser252Arg)
c.784A>C (p.Ser262Arg)
c.1159A>C (p.Ser387Arg)
c.1234A>C (p.Ser412Arg)
c.1081A>C (p.Ser361Arg)
n.457A>C
5g.93593804A>GCA360528082NR2F1c.754A>G (p.Ser252Gly)
c.784A>G (p.Ser262Gly)
c.1159A>G (p.Ser387Gly)
c.1234A>G (p.Ser412Gly)
c.1081A>G (p.Ser361Gly)
n.457A>G
5g.93593804A>TCA360528081NR2F1c.754A>T (p.Ser252Cys)
c.784A>T (p.Ser262Cys)
c.1159A>T (p.Ser387Cys)
c.1234A>T (p.Ser412Cys)
c.1081A>T (p.Ser361Cys)
n.457A>T
5g.93593805G>ACA360528083NR2F1c.755G>A (p.Ser252Asn)
c.785G>A (p.Ser262Asn)
c.1160G>A (p.Ser387Asn)
c.1235G>A (p.Ser412Asn)
c.1082G>A (p.Ser361Asn)
n.458G>A
5g.93593805G>CCA3343255NR2F1c.755G>C (p.Ser252Thr)
c.785G>C (p.Ser262Thr)
c.1160G>C (p.Ser387Thr)
c.1235G>C (p.Ser412Thr)
c.1082G>C (p.Ser361Thr)
n.458G>C
 dbSNP ExAC gnomAD v2
5g.93593805G=CA1564188110NR2F1c.755G= (p.Ser252=)
c.785G= (p.Ser262=)
c.1160G= (p.Ser387=)
c.1235G= (p.Ser412=)
c.1082G= (p.Ser361=)
n.458G=
5g.93593805G>TCA360528084NR2F1c.755G>T (p.Ser252Ile)
c.785G>T (p.Ser262Ile)
c.1160G>T (p.Ser387Ile)
c.1235G>T (p.Ser412Ile)
c.1082G>T (p.Ser361Ile)
n.458G>T
5g.93593806C>ACA360528085NR2F1c.756C>A (p.Ser252Arg)
c.786C>A (p.Ser262Arg)
c.1161C>A (p.Ser387Arg)
c.1236C>A (p.Ser412Arg)
c.1083C>A (p.Ser361Arg)
n.459C>A
5g.93593806C=CA1564188117NR2F1c.756C= (p.Ser252=)
c.786C= (p.Ser262=)
c.1161C= (p.Ser387=)
c.1236C= (p.Ser412=)
c.1083C= (p.Ser361=)
n.459C=
5g.93593806C>GCA360528086NR2F1c.756C>G (p.Ser252Arg)
c.786C>G (p.Ser262Arg)
c.1161C>G (p.Ser387Arg)
c.1236C>G (p.Ser412Arg)
c.1083C>G (p.Ser361Arg)
n.459C>G
5g.93593806C>TCA445722197NR2F1c.756C>T (p.Ser252=)
c.786C>T (p.Ser262=)
c.1161C>T (p.Ser387=)
c.1236C>T (p.Ser412=)
c.1083C>T (p.Ser361=)
n.459C>T
 dbSNP
5g.93593807T>ACA360528087NR2F1c.757T>A (p.Phe253Ile)
c.787T>A (p.Phe263Ile)
c.1162T>A (p.Phe388Ile)
c.1237T>A (p.Phe413Ile)
c.1084T>A (p.Phe362Ile)
n.460T>A
5g.93593807T>CCA360528088NR2F1c.757T>C (p.Phe253Leu)
c.787T>C (p.Phe263Leu)
c.1162T>C (p.Phe388Leu)
c.1237T>C (p.Phe413Leu)
c.1084T>C (p.Phe362Leu)
n.460T>C
5g.93593807T>GCA360528089NR2F1c.757T>G (p.Phe253Val)
c.787T>G (p.Phe263Val)
c.1162T>G (p.Phe388Val)
c.1237T>G (p.Phe413Val)
c.1084T>G (p.Phe362Val)
n.460T>G
5g.93593808T>ACA360528090NR2F1c.758T>A (p.Phe253Tyr)
c.788T>A (p.Phe263Tyr)
c.1163T>A (p.Phe388Tyr)
c.1238T>A (p.Phe413Tyr)
c.1085T>A (p.Phe362Tyr)
n.461T>A
5g.93593808T>CCA360528091NR2F1c.758T>C (p.Phe253Ser)
c.788T>C (p.Phe263Ser)
c.1163T>C (p.Phe388Ser)
c.1238T>C (p.Phe413Ser)
c.1085T>C (p.Phe362Ser)
n.461T>C
5g.93593808T>GCA360528092NR2F1c.758T>G (p.Phe253Cys)
c.788T>G (p.Phe263Cys)
c.1163T>G (p.Phe388Cys)
c.1238T>G (p.Phe413Cys)
c.1085T>G (p.Phe362Cys)
n.461T>G
5g.93593809C>ACA360528094NR2F1c.759C>A (p.Phe253Leu)
c.789C>A (p.Phe263Leu)
c.1164C>A (p.Phe388Leu)
c.1239C>A (p.Phe413Leu)
c.1086C>A (p.Phe362Leu)
n.462C>A
5g.93593809C=CA1564188120NR2F1c.759C= (p.Phe253=)
c.789C= (p.Phe263=)
c.1164C= (p.Phe388=)
c.1239C= (p.Phe413=)
c.1086C= (p.Phe362=)
n.462C=
5g.93593809C>GCA360528093NR2F1c.759C>G (p.Phe253Leu)
c.789C>G (p.Phe263Leu)
c.1164C>G (p.Phe388Leu)
c.1239C>G (p.Phe413Leu)
c.1086C>G (p.Phe362Leu)
n.462C>G
5g.93593809C>TCA3343256NR2F1c.759C>T (p.Phe253=)
c.789C>T (p.Phe263=)
c.1164C>T (p.Phe388=)
c.1239C>T (p.Phe413=)
c.1086C>T (p.Phe362=)
n.462C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.93593810A=CA1564188125NR2F1c.760A= (p.Asn254=)
c.790A= (p.Asn264=)
c.1165A= (p.Asn389=)
c.1240A= (p.Asn414=)
c.1087A= (p.Asn363=)
n.463A=
5g.93593810A>CCA360528095NR2F1c.760A>C (p.Asn254His)
c.790A>C (p.Asn264His)
c.1165A>C (p.Asn389His)
c.1240A>C (p.Asn414His)
c.1087A>C (p.Asn363His)
n.463A>C
5g.93593810A>GCA360528096NR2F1c.760A>G (p.Asn254Asp)
c.790A>G (p.Asn264Asp)
c.1165A>G (p.Asn389Asp)
c.1240A>G (p.Asn414Asp)
c.1087A>G (p.Asn363Asp)
n.463A>G
 dbSNP
5g.93593810A>TCA360528097NR2F1c.760A>T (p.Asn254Tyr)
c.790A>T (p.Asn264Tyr)
c.1165A>T (p.Asn389Tyr)
c.1240A>T (p.Asn414Tyr)
c.1087A>T (p.Asn363Tyr)
n.463A>T
5g.93593811A=CA1564188129NR2F1c.761A= (p.Asn254=)
c.791A= (p.Asn264=)
c.1166A= (p.Asn389=)
c.1241A= (p.Asn414=)
c.1088A= (p.Asn363=)
n.464A=
5g.93593811A>CCA360528098NR2F1c.761A>C (p.Asn254Thr)
c.791A>C (p.Asn264Thr)
c.1166A>C (p.Asn389Thr)
c.1241A>C (p.Asn414Thr)
c.1088A>C (p.Asn363Thr)
n.464A>C
5g.93593811A>GCA360528099NR2F1c.761A>G (p.Asn254Ser)
c.791A>G (p.Asn264Ser)
c.1166A>G (p.Asn389Ser)
c.1241A>G (p.Asn414Ser)
c.1088A>G (p.Asn363Ser)
n.464A>G
 ClinVar dbSNP
5g.93593811A>TCA360528100NR2F1c.761A>T (p.Asn254Ile)
c.791A>T (p.Asn264Ile)
c.1166A>T (p.Asn389Ile)
c.1241A>T (p.Asn414Ile)
c.1088A>T (p.Asn363Ile)
n.464A>T
5g.93593812C>ACA360528101NR2F1c.762C>A (p.Asn254Lys)
c.792C>A (p.Asn264Lys)
c.1167C>A (p.Asn389Lys)
c.1242C>A (p.Asn414Lys)
c.1089C>A (p.Asn363Lys)
n.465C>A
5g.93593812C>GCA360528102NR2F1c.762C>G (p.Asn254Lys)
c.792C>G (p.Asn264Lys)
c.1167C>G (p.Asn389Lys)
c.1242C>G (p.Asn414Lys)
c.1089C>G (p.Asn363Lys)
n.465C>G
5g.93593812C>TCA445722201NR2F1c.762C>T (p.Asn254=)
c.792C>T (p.Asn264=)
c.1167C>T (p.Asn389=)
c.1242C>T (p.Asn414=)
c.1089C>T (p.Asn363=)
n.465C>T
5g.93593813T>ACA360528103NR2F1c.763T>A (p.Trp255Arg)
c.793T>A (p.Trp265Arg)
c.1168T>A (p.Trp390Arg)
c.1243T>A (p.Trp415Arg)
c.1090T>A (p.Trp364Arg)
n.466T>A
5g.93593813T>CCA360528104NR2F1c.763T>C (p.Trp255Arg)
c.793T>C (p.Trp265Arg)
c.1168T>C (p.Trp390Arg)
c.1243T>C (p.Trp415Arg)
c.1090T>C (p.Trp364Arg)
n.466T>C
5g.93593813T>GCA360528105NR2F1c.763T>G (p.Trp255Gly)
c.793T>G (p.Trp265Gly)
c.1168T>G (p.Trp390Gly)
c.1243T>G (p.Trp415Gly)
c.1090T>G (p.Trp364Gly)
n.466T>G
5g.93593814G>ACA360528107NR2F1c.764G>A (p.Trp255Ter)
c.794G>A (p.Trp265Ter)
c.1169G>A (p.Trp390Ter)
c.1244G>A (p.Trp415Ter)
c.1091G>A (p.Trp364Ter)
n.467G>A
5g.93593814G>CCA360528108NR2F1c.764G>C (p.Trp255Ser)
c.794G>C (p.Trp265Ser)
c.1169G>C (p.Trp390Ser)
c.1244G>C (p.Trp415Ser)
c.1091G>C (p.Trp364Ser)
n.467G>C
5g.93593814G>TCA360528106NR2F1c.764G>T (p.Trp255Leu)
c.794G>T (p.Trp265Leu)
c.1169G>T (p.Trp390Leu)
c.1244G>T (p.Trp415Leu)
c.1091G>T (p.Trp364Leu)
n.467G>T
5g.93593815G>ACA360528111NR2F1c.765G>A (p.Trp255Ter)
c.795G>A (p.Trp265Ter)
c.1170G>A (p.Trp390Ter)
c.1245G>A (p.Trp415Ter)
c.1092G>A (p.Trp364Ter)
n.468G>A
5g.93593815G>CCA360528109NR2F1c.765G>C (p.Trp255Cys)
c.795G>C (p.Trp265Cys)
c.1170G>C (p.Trp390Cys)
c.1245G>C (p.Trp415Cys)
c.1092G>C (p.Trp364Cys)
n.468G>C
5g.93593815G>TCA360528110NR2F1c.765G>T (p.Trp255Cys)
c.795G>T (p.Trp265Cys)
c.1170G>T (p.Trp390Cys)
c.1245G>T (p.Trp415Cys)
c.1092G>T (p.Trp364Cys)
n.468G>T
5g.93593816C>ACA360528112NR2F1c.766C>A (p.Pro256Thr)
c.796C>A (p.Pro266Thr)
c.1171C>A (p.Pro391Thr)
c.1246C>A (p.Pro416Thr)
c.1093C>A (p.Pro365Thr)
n.469C>A
5g.93593816C>GCA360528113NR2F1c.766C>G (p.Pro256Ala)
c.796C>G (p.Pro266Ala)
c.1171C>G (p.Pro391Ala)
c.1246C>G (p.Pro416Ala)
c.1093C>G (p.Pro365Ala)
n.469C>G
5g.93593816C>TCA360528114NR2F1c.766C>T (p.Pro256Ser)
c.796C>T (p.Pro266Ser)
c.1171C>T (p.Pro391Ser)
c.1246C>T (p.Pro416Ser)
c.1093C>T (p.Pro365Ser)
n.469C>T
 gnomAD v4
5g.93593817C>ACA360528115NR2F1c.767C>A (p.Pro256His)
c.797C>A (p.Pro266His)
c.1172C>A (p.Pro391His)
c.1247C>A (p.Pro416His)
c.1094C>A (p.Pro365His)
n.470C>A
5g.93593817C>GCA360528116NR2F1c.767C>G (p.Pro256Arg)
c.797C>G (p.Pro266Arg)
c.1172C>G (p.Pro391Arg)
c.1247C>G (p.Pro416Arg)
c.1094C>G (p.Pro365Arg)
n.470C>G
5g.93593817C>TCA360528117NR2F1c.767C>T (p.Pro256Leu)
c.797C>T (p.Pro266Leu)
c.1172C>T (p.Pro391Leu)
c.1247C>T (p.Pro416Leu)
c.1094C>T (p.Pro365Leu)
n.470C>T
5g.93593818T>ACA3343257NR2F1c.768T>A (p.Pro256=)
c.798T>A (p.Pro266=)
c.1173T>A (p.Pro391=)
c.1248T>A (p.Pro416=)
c.1095T>A (p.Pro365=)
n.471T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93593818T>CCA445722206NR2F1c.768T>C (p.Pro256=)
c.798T>C (p.Pro266=)
c.1173T>C (p.Pro391=)
c.1248T>C (p.Pro416=)
c.1095T>C (p.Pro365=)
n.471T>C
5g.93593818T>GCA445722207NR2F1c.768T>G (p.Pro256=)
c.798T>G (p.Pro266=)
c.1173T>G (p.Pro391=)
c.1248T>G (p.Pro416=)
c.1095T>G (p.Pro365=)
n.471T>G
5g.93593818T=CA1564188136NR2F1c.768T= (p.Pro256=)
c.798T= (p.Pro266=)
c.1173T= (p.Pro391=)
c.1248T= (p.Pro416=)
c.1095T= (p.Pro365=)
n.471T=
5g.93593819T>ACA360528118NR2F1c.769T>A (p.Tyr257Asn)
c.799T>A (p.Tyr267Asn)
c.1174T>A (p.Tyr392Asn)
c.1249T>A (p.Tyr417Asn)
c.1096T>A (p.Tyr366Asn)
n.472T>A
5g.93593819T>CCA360528119NR2F1c.769T>C (p.Tyr257His)
c.799T>C (p.Tyr267His)
c.1174T>C (p.Tyr392His)
c.1249T>C (p.Tyr417His)
c.1096T>C (p.Tyr366His)
n.472T>C
5g.93593819T>GCA360528120NR2F1c.769T>G (p.Tyr257Asp)
c.799T>G (p.Tyr267Asp)
c.1174T>G (p.Tyr392Asp)
c.1249T>G (p.Tyr417Asp)
c.1096T>G (p.Tyr366Asp)
n.472T>G
5g.93593820A>CCA360528123NR2F1c.770A>C (p.Tyr257Ser)
c.800A>C (p.Tyr267Ser)
c.1175A>C (p.Tyr392Ser)
c.1250A>C (p.Tyr417Ser)
c.1097A>C (p.Tyr366Ser)
n.473A>C
5g.93593820A>GCA360528121NR2F1c.770A>G (p.Tyr257Cys)
c.800A>G (p.Tyr267Cys)
c.1175A>G (p.Tyr392Cys)
c.1250A>G (p.Tyr417Cys)
c.1097A>G (p.Tyr366Cys)
n.473A>G
5g.93593820A>TCA360528122NR2F1c.770A>T (p.Tyr257Phe)
c.800A>T (p.Tyr267Phe)
c.1175A>T (p.Tyr392Phe)
c.1250A>T (p.Tyr417Phe)
c.1097A>T (p.Tyr366Phe)
n.473A>T
5g.93593821C>ACA360528124NR2F1c.771C>A (p.Tyr257Ter)
c.801C>A (p.Tyr267Ter)
c.1176C>A (p.Tyr392Ter)
c.1251C>A (p.Tyr417Ter)
c.1098C>A (p.Tyr366Ter)
n.474C>A
5g.93593821C>GCA360528125NR2F1c.771C>G (p.Tyr257Ter)
c.801C>G (p.Tyr267Ter)
c.1176C>G (p.Tyr392Ter)
c.1251C>G (p.Tyr417Ter)
c.1098C>G (p.Tyr366Ter)
n.474C>G
5g.93593821C>TCA445722214NR2F1c.771C>T (p.Tyr257=)
c.801C>T (p.Tyr267=)
c.1176C>T (p.Tyr392=)
c.1251C>T (p.Tyr417=)
c.1098C>T (p.Tyr366=)
n.474C>T
5g.93593822A=CA1564188139NR2F1c.772A= (p.Met258=)
c.802A= (p.Met268=)
c.1177A= (p.Met393=)
c.1252A= (p.Met418=)
c.1099A= (p.Met367=)
n.475A=
5g.93593822A>CCA360528126NR2F1c.772A>C (p.Met258Leu)
c.802A>C (p.Met268Leu)
c.1177A>C (p.Met393Leu)
c.1252A>C (p.Met418Leu)
c.1099A>C (p.Met367Leu)
n.475A>C
 gnomAD v4
5g.93593822A>GCA3343258NR2F1c.772A>G (p.Met258Val)
c.802A>G (p.Met268Val)
c.1177A>G (p.Met393Val)
c.1252A>G (p.Met418Val)
c.1099A>G (p.Met367Val)
n.475A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93593822A>TCA360528127NR2F1c.772A>T (p.Met258Leu)
c.802A>T (p.Met268Leu)
c.1177A>T (p.Met393Leu)
c.1252A>T (p.Met418Leu)
c.1099A>T (p.Met367Leu)
n.475A>T
5g.93593823T>ACA360528128NR2F1c.773T>A (p.Met258Lys)
c.803T>A (p.Met268Lys)
c.1178T>A (p.Met393Lys)
c.1253T>A (p.Met418Lys)
c.1100T>A (p.Met367Lys)
n.476T>A
5g.93593823T>CCA360528129NR2F1c.773T>C (p.Met258Thr)
c.803T>C (p.Met268Thr)
c.1178T>C (p.Met393Thr)
c.1253T>C (p.Met418Thr)
c.1100T>C (p.Met367Thr)
n.476T>C
5g.93593823T>GCA360528130NR2F1c.773T>G (p.Met258Arg)
c.803T>G (p.Met268Arg)
c.1178T>G (p.Met393Arg)
c.1253T>G (p.Met418Arg)
c.1100T>G (p.Met367Arg)
n.476T>G
5g.93593824G>ACA360528131NR2F1c.774G>A (p.Met258Ile)
c.804G>A (p.Met268Ile)
c.1179G>A (p.Met393Ile)
c.1254G>A (p.Met418Ile)
c.1101G>A (p.Met367Ile)
n.477G>A
 gnomAD v4
5g.93593824G>CCA360528132NR2F1c.774G>C (p.Met258Ile)
c.804G>C (p.Met268Ile)
c.1179G>C (p.Met393Ile)
c.1254G>C (p.Met418Ile)
c.1101G>C (p.Met367Ile)
n.477G>C
5g.93593824G>TCA360528133NR2F1c.774G>T (p.Met258Ile)
c.804G>T (p.Met268Ile)
c.1179G>T (p.Met393Ile)
c.1254G>T (p.Met418Ile)
c.1101G>T (p.Met367Ile)
n.477G>T
5g.93593825T>ACA360528135NR2F1c.775T>A (p.Ser259Thr)
c.805T>A (p.Ser269Thr)
c.1180T>A (p.Ser394Thr)
c.1255T>A (p.Ser419Thr)
c.1102T>A (p.Ser368Thr)
n.478T>A
5g.93593825T>CCA360528136NR2F1c.775T>C (p.Ser259Pro)
c.805T>C (p.Ser269Pro)
c.1180T>C (p.Ser394Pro)
c.1255T>C (p.Ser419Pro)
c.1102T>C (p.Ser368Pro)
n.478T>C
5g.93593825T>GCA360528134NR2F1c.775T>G (p.Ser259Ala)
c.805T>G (p.Ser269Ala)
c.1180T>G (p.Ser394Ala)
c.1255T>G (p.Ser419Ala)
c.1102T>G (p.Ser368Ala)
n.478T>G
5g.93593826C>ACA360528137NR2F1c.776C>A (p.Ser259Tyr)
c.806C>A (p.Ser269Tyr)
c.1181C>A (p.Ser394Tyr)
c.1256C>A (p.Ser419Tyr)
c.1103C>A (p.Ser368Tyr)
n.479C>A
 COSMIC
5g.93593826C=CA1564188143NR2F1c.776C= (p.Ser259=)
c.806C= (p.Ser269=)
c.1181C= (p.Ser394=)
c.1256C= (p.Ser419=)
c.1103C= (p.Ser368=)
n.479C=
5g.93593826C>GCA360528138NR2F1c.776C>G (p.Ser259Cys)
c.806C>G (p.Ser269Cys)
c.1181C>G (p.Ser394Cys)
c.1256C>G (p.Ser419Cys)
c.1103C>G (p.Ser368Cys)
n.479C>G
5g.93593826C>TCA123267088NR2F1c.776C>T (p.Ser259Phe)
c.806C>T (p.Ser269Phe)
c.1181C>T (p.Ser394Phe)
c.1256C>T (p.Ser419Phe)
c.1103C>T (p.Ser368Phe)
n.479C>T
 dbSNP
5g.93593827C>ACA445722219NR2F1c.777C>A (p.Ser259=)
c.807C>A (p.Ser269=)
c.1182C>A (p.Ser394=)
c.1257C>A (p.Ser419=)
c.1104C>A (p.Ser368=)
n.480C>A
5g.93593827C=CA1564188148NR2F1c.777C= (p.Ser259=)
c.807C= (p.Ser269=)
c.1182C= (p.Ser394=)
c.1257C= (p.Ser419=)
c.1104C= (p.Ser368=)
n.480C=
5g.93593827C>GCA445722220NR2F1c.777C>G (p.Ser259=)
c.807C>G (p.Ser269=)
c.1182C>G (p.Ser394=)
c.1257C>G (p.Ser419=)
c.1104C>G (p.Ser368=)
n.480C>G
5g.93593827C>TCA123267089NR2F1c.777C>T (p.Ser259=)
c.807C>T (p.Ser269=)
c.1182C>T (p.Ser394=)
c.1257C>T (p.Ser419=)
c.1104C>T (p.Ser368=)
n.480C>T
 dbSNP
5g.93593828A>CCA360528139NR2F1c.778A>C (p.Ile260Leu)
c.808A>C (p.Ile270Leu)
c.1183A>C (p.Ile395Leu)
c.1258A>C (p.Ile420Leu)
c.1105A>C (p.Ile369Leu)
n.481A>C
5g.93593828A>GCA360528140NR2F1c.778A>G (p.Ile260Val)
c.808A>G (p.Ile270Val)
c.1183A>G (p.Ile395Val)
c.1258A>G (p.Ile420Val)
c.1105A>G (p.Ile369Val)
n.481A>G
5g.93593828A>TCA360528141NR2F1c.778A>T (p.Ile260Phe)
c.808A>T (p.Ile270Phe)
c.1183A>T (p.Ile395Phe)
c.1258A>T (p.Ile420Phe)
c.1105A>T (p.Ile369Phe)
n.481A>T
5g.93593829T>ACA360528142NR2F1c.779T>A (p.Ile260Asn)
c.809T>A (p.Ile270Asn)
c.1184T>A (p.Ile395Asn)
c.1259T>A (p.Ile420Asn)
c.1106T>A (p.Ile369Asn)
n.482T>A
 gnomAD v4
5g.93593829T>CCA360528143NR2F1c.779T>C (p.Ile260Thr)
c.809T>C (p.Ile270Thr)
c.1184T>C (p.Ile395Thr)
c.1259T>C (p.Ile420Thr)
c.1106T>C (p.Ile369Thr)
n.482T>C
5g.93593829T>GCA360528144NR2F1c.779T>G (p.Ile260Ser)
c.809T>G (p.Ile270Ser)
c.1184T>G (p.Ile395Ser)
c.1259T>G (p.Ile420Ser)
c.1106T>G (p.Ile369Ser)
n.482T>G
5g.93593830C>ACA445722227NR2F1c.780C>A (p.Ile260=)
c.810C>A (p.Ile270=)
c.1185C>A (p.Ile395=)
c.1260C>A (p.Ile420=)
c.1107C>A (p.Ile369=)
n.483C>A
5g.93593830C>GCA360528145NR2F1c.780C>G (p.Ile260Met)
c.810C>G (p.Ile270Met)
c.1185C>G (p.Ile395Met)
c.1260C>G (p.Ile420Met)
c.1107C>G (p.Ile369Met)
n.483C>G
5g.93593830C>TCA445722228NR2F1c.780C>T (p.Ile260=)
c.810C>T (p.Ile270=)
c.1185C>T (p.Ile395=)
c.1260C>T (p.Ile420=)
c.1107C>T (p.Ile369=)
n.483C>T
 gnomAD v4
5g.93593831C>ACA360528146NR2F1c.781C>A (p.Gln261Lys)
c.811C>A (p.Gln271Lys)
c.1186C>A (p.Gln396Lys)
c.1261C>A (p.Gln421Lys)
c.1108C>A (p.Gln370Lys)
n.484C>A
5g.93593831C>GCA360528147NR2F1c.781C>G (p.Gln261Glu)
c.811C>G (p.Gln271Glu)
c.1186C>G (p.Gln396Glu)
c.1261C>G (p.Gln421Glu)
c.1108C>G (p.Gln370Glu)
n.484C>G
5g.93593831C>TCA360528148NR2F1c.781C>T (p.Gln261Ter)
c.811C>T (p.Gln271Ter)
c.1186C>T (p.Gln396Ter)
c.1261C>T (p.Gln421Ter)
c.1108C>T (p.Gln370Ter)
n.484C>T
5g.93593832A=CA1564188150NR2F1c.782A= (p.Gln261=)
c.812A= (p.Gln271=)
c.1187A= (p.Gln396=)
c.1262A= (p.Gln421=)
c.1109A= (p.Gln370=)
n.485A=
5g.93593832A>CCA360528151NR2F1c.782A>C (p.Gln261Pro)
c.812A>C (p.Gln271Pro)
c.1187A>C (p.Gln396Pro)
c.1262A>C (p.Gln421Pro)
c.1109A>C (p.Gln370Pro)
n.485A>C
 ClinVar dbSNP gnomAD v4
5g.93593832A>GCA360528150NR2F1c.782A>G (p.Gln261Arg)
c.812A>G (p.Gln271Arg)
c.1187A>G (p.Gln396Arg)
c.1262A>G (p.Gln421Arg)
c.1109A>G (p.Gln370Arg)
n.485A>G
 gnomAD v4
5g.93593832A>TCA360528149NR2F1c.782A>T (p.Gln261Leu)
c.812A>T (p.Gln271Leu)
c.1187A>T (p.Gln396Leu)
c.1262A>T (p.Gln421Leu)
c.1109A>T (p.Gln370Leu)
n.485A>T
5g.93593833G>ACA3343259NR2F1c.783G>A (p.Gln261=)
c.813G>A (p.Gln271=)
c.1188G>A (p.Gln396=)
c.1263G>A (p.Gln421=)
c.1110G>A (p.Gln370=)
n.486G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.93593833G>CCA360528152NR2F1c.783G>C (p.Gln261His)
c.813G>C (p.Gln271His)
c.1188G>C (p.Gln396His)
c.1263G>C (p.Gln421His)
c.1110G>C (p.Gln370His)
n.486G>C
5g.93593833G=CA1564188156NR2F1c.783G= (p.Gln261=)
c.813G= (p.Gln271=)
c.1188G= (p.Gln396=)
c.1263G= (p.Gln421=)
c.1110G= (p.Gln370=)
n.486G=
5g.93593833G>TCA360528153NR2F1c.783G>T (p.Gln261His)
c.813G>T (p.Gln271His)
c.1188G>T (p.Gln396His)
c.1263G>T (p.Gln421His)
c.1110G>T (p.Gln370His)
n.486G>T
5g.93593834T>ACA360528154NR2F1c.784T>A (p.Cys262Ser)
c.814T>A (p.Cys272Ser)
c.1189T>A (p.Cys397Ser)
c.1264T>A (p.Cys422Ser)
c.1111T>A (p.Cys371Ser)
n.487T>A
5g.93593834T>CCA360528155NR2F1c.784T>C (p.Cys262Arg)
c.814T>C (p.Cys272Arg)
c.1189T>C (p.Cys397Arg)
c.1264T>C (p.Cys422Arg)
c.1111T>C (p.Cys371Arg)
n.487T>C
5g.93593834T>GCA360528156NR2F1c.784T>G (p.Cys262Gly)
c.814T>G (p.Cys272Gly)
c.1189T>G (p.Cys397Gly)
c.1264T>G (p.Cys422Gly)
c.1111T>G (p.Cys371Gly)
n.487T>G
5g.93593835G>ACA360528157NR2F1c.785G>A (p.Cys262Tyr)
c.815G>A (p.Cys272Tyr)
c.1190G>A (p.Cys397Tyr)
c.1265G>A (p.Cys422Tyr)
c.1112G>A (p.Cys371Tyr)
n.488G>A
 gnomAD v3 gnomAD v4
5g.93593835G>CCA360528158NR2F1c.785G>C (p.Cys262Ser)
c.815G>C (p.Cys272Ser)
c.1190G>C (p.Cys397Ser)
c.1265G>C (p.Cys422Ser)
c.1112G>C (p.Cys371Ser)
n.488G>C
5g.93593835G>TCA360528159NR2F1c.785G>T (p.Cys262Phe)
c.815G>T (p.Cys272Phe)
c.1190G>T (p.Cys397Phe)
c.1265G>T (p.Cys422Phe)
c.1112G>T (p.Cys371Phe)
n.488G>T
5g.93593836C>ACA360528160NR2F1c.786C>A (p.Cys262Ter)
c.816C>A (p.Cys272Ter)
c.1191C>A (p.Cys397Ter)
c.1266C>A (p.Cys422Ter)
c.1113C>A (p.Cys371Ter)
n.489C>A
5g.93593836C=CA1564188159NR2F1c.786C= (p.Cys262=)
c.816C= (p.Cys272=)
c.1191C= (p.Cys397=)
c.1266C= (p.Cys422=)
c.1113C= (p.Cys371=)
n.489C=
5g.93593836C>GCA360528161NR2F1c.786C>G (p.Cys262Trp)
c.816C>G (p.Cys272Trp)
c.1191C>G (p.Cys397Trp)
c.1266C>G (p.Cys422Trp)
c.1113C>G (p.Cys371Trp)
n.489C>G
5g.93593836C>TCA445722235NR2F1c.786C>T (p.Cys262=)
c.816C>T (p.Cys272=)
c.1191C>T (p.Cys397=)
c.1266C>T (p.Cys422=)
c.1113C>T (p.Cys371=)
n.489C>T
 dbSNP gnomAD v2 gnomAD v4
5g.93593837T>ACA360528162NR2F1c.787T>A (p.Ser263Thr)
c.817T>A (p.Ser273Thr)
c.1192T>A (p.Ser398Thr)
c.1267T>A (p.Ser423Thr)
c.1114T>A (p.Ser372Thr)
n.490T>A
5g.93593837T>CCA360528163NR2F1c.787T>C (p.Ser263Pro)
c.817T>C (p.Ser273Pro)
c.1192T>C (p.Ser398Pro)
c.1267T>C (p.Ser423Pro)
c.1114T>C (p.Ser372Pro)
n.490T>C
5g.93593837T>GCA360528164NR2F1c.787T>G (p.Ser263Ala)
c.817T>G (p.Ser273Ala)
c.1192T>G (p.Ser398Ala)
c.1267T>G (p.Ser423Ala)
c.1114T>G (p.Ser372Ala)
n.490T>G
5g.93593838C>ACA360528166NR2F1c.788C>A (p.Ser263Tyr)
c.818C>A (p.Ser273Tyr)
c.1193C>A (p.Ser398Tyr)
c.1268C>A (p.Ser423Tyr)
c.1115C>A (p.Ser372Tyr)
n.491C>A
5g.93593838C>GCA360528167NR2F1c.788C>G (p.Ser263Cys)
c.818C>G (p.Ser273Cys)
c.1193C>G (p.Ser398Cys)
c.1268C>G (p.Ser423Cys)
c.1115C>G (p.Ser372Cys)
n.491C>G
5g.93593838C>TCA360528165NR2F1c.788C>T (p.Ser263Phe)
c.818C>T (p.Ser273Phe)
c.1193C>T (p.Ser398Phe)
c.1268C>T (p.Ser423Phe)
c.1115C>T (p.Ser372Phe)
n.491C>T

Number of alleles fetched