NM_005654.6(NR2F1):c.-187G>A
|
rs866080178
|
0.02747
|
NM_005654.6(NR2F1):c.-1588T>C
|
rs76981368
|
0.01884
|
NM_005654.6(NR2F1):c.162C>A (p.Thr54=)
|
rs557800691
|
0.01197
|
NM_005654.6(NR2F1):c.463+99C>G
|
rs533917207
|
0.00374
|
NM_005654.6(NR2F1):c.-33C>T
|
rs372818347
|
0.00098
|
NM_005654.6(NR2F1):c.1197C>T (p.Ile399=)
|
rs138827038
|
0.00066
|
NM_005654.6(NR2F1):c.*50C>T
|
rs376558654
|
0.00059
|
NM_005654.6(NR2F1):c.237G>C (p.Gln79His)
|
rs199844882
|
0.00054
|
NM_005654.6(NR2F1):c.993C>T (p.Asp331=)
|
rs202243427
|
0.00032
|
NM_005654.6(NR2F1):c.192C>T (p.Pro64=)
|
rs747522225
|
0.00026
|
NM_005654.6(NR2F1):c.708C>T (p.Asn236=)
|
rs372227484
|
0.00020
|
NM_005654.6(NR2F1):c.903C>A (p.Ile301=)
|
rs750683610
|
0.00015
|
NM_005654.6(NR2F1):c.464-43C>T
|
rs192538307
|
0.00012
|
NM_005654.6(NR2F1):c.811C>T (p.Leu271=)
|
rs777533706
|
0.00012
|
NM_005654.6(NR2F1):c.1008G>A (p.Ser336=)
|
rs145104274
|
0.00005
|
NM_005654.6(NR2F1):c.40G>T (p.Asp14Tyr)
|
rs1193147148
|
0.00005
|
NM_005654.6(NR2F1):c.505G>A (p.Gly169Ser)
|
rs370606773
|
0.00005
|
NM_005654.6(NR2F1):c.1014G>A (p.Ala338=)
|
rs201229023
|
0.00004
|
NM_005654.6(NR2F1):c.464-19C>T
|
rs904035084
|
0.00004
|
NM_005654.6(NR2F1):c.48C>T (p.Ala16=)
|
rs780151168
|
0.00004
|
NM_005654.6(NR2F1):c.756A>G (p.Leu252=)
|
rs547985564
|
0.00004
|
NM_005654.6(NR2F1):c.1050C>T (p.Cys350=)
|
rs530910180
|
0.00003
|
NM_005654.6(NR2F1):c.1149C>T (p.Ser383=)
|
rs144876856
|
0.00003
|
NM_005654.6(NR2F1):c.183C>T (p.Pro61=)
|
rs1054029785
|
0.00003
|
NM_005654.6(NR2F1):c.531C>T (p.Asp177=)
|
rs964131641
|
0.00003
|
NM_005654.6(NR2F1):c.558C>T (p.Ser186=)
|
rs773102110
|
0.00003
|
NM_005654.6(NR2F1):c.1023C>T (p.Ile341=)
|
rs776732958
|
0.00002
|
NM_005654.6(NR2F1):c.1212C>T (p.Arg404=)
|
rs761244180
|
0.00002
|
NM_005654.6(NR2F1):c.465G>T (p.Ala155=)
|
rs372471207
|
0.00002
|
NM_005654.6(NR2F1):c.540C>T (p.Asn180=)
|
rs747863258
|
0.00002
|
NM_005654.6(NR2F1):c.63C>A (p.Gly21=)
|
rs1432991015
|
0.00002
|
NM_005654.6(NR2F1):c.*10G>A
|
rs577470913
|
0.00001
|
NM_005654.6(NR2F1):c.1013C>T (p.Ala338Val)
|
rs1192010938
|
0.00001
|
NM_005654.6(NR2F1):c.101G>T (p.Gly34Val)
|
rs1753206176
|
0.00001
|
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter)
|
rs1297603674
|
0.00001
|
NM_005654.6(NR2F1):c.1170C>T (p.Phe390=)
|
rs1420094450
|
0.00001
|
NM_005654.6(NR2F1):c.1174C>T (p.Arg392Cys)
|
rs1753374624
|
0.00001
|
NM_005654.6(NR2F1):c.1219T>C (p.Leu407=)
|
rs750040062
|
0.00001
|
NM_005654.6(NR2F1):c.1248T>A (p.Pro416=)
|
rs753642534
|
0.00001
|
NM_005654.6(NR2F1):c.153G>A (p.Thr51=)
|
rs1057522243
|
0.00001
|
NM_005654.6(NR2F1):c.204G>A (p.Gly68=)
|
rs1401241589
|
0.00001
|
NM_005654.6(NR2F1):c.20G>A (p.Ser7Asn)
|
rs1753203799
|
0.00001
|
NM_005654.6(NR2F1):c.211G>A (p.Gly71Ser)
|
rs1131691363
|
0.00001
|
NM_005654.6(NR2F1):c.276G>A (p.Lys92=)
|
rs906581747
|
0.00001
|
NM_005654.6(NR2F1):c.463+5A>G
|
rs747394434
|
0.00001
|
NM_005654.6(NR2F1):c.533C>T (p.Pro178Leu)
|
rs1161717916
|
0.00001
|
NM_005654.6(NR2F1):c.547T>A (p.Cys183Ser)
|
rs771713174
|
0.00001
|
NM_005654.6(NR2F1):c.666G>A (p.Leu222=)
|
rs764266826
|
0.00001
|
NM_005654.6(NR2F1):c.681C>T (p.Leu227=)
|
rs751683829
|
0.00001
|
NM_005654.6(NR2F1):c.765C>G (p.Thr255=)
|
rs778504524
|
0.00001
|
NM_005654.6(NR2F1):c.859A>T (p.Met287Leu)
|
rs751163796
|
0.00001
|
NM_005654.6(NR2F1):c.891C>T (p.Asp297=)
|
rs774531602
|
0.00001
|
NM_005654.6(NR2F1):c.931G>A (p.Ala311Thr)
|
rs1753268123
|
0.00001
|
NM_005654.6(NR2F1):c.939C>T (p.His313=)
|
rs1018466118
|
0.00001
|
NM_005654.6(NR2F1):c.987G>A (p.Thr329=)
|
rs757861079
|
0.00001
|
NM_005654.6(NR2F1):c.991+19G>A
|
rs781016741
|
0.00001
|
GRCh37/hg19 5q15(chr5:92919336-92925582)x4
|
|
|
NC_000005.10:g.(?_93585023)_(93593843_?)del
|
|
|
NC_000005.9:g.(?_92920730)_(92929548_?)del
|
|
|
NC_000005.9:g.(?_92920730)_(92929548_?)dup
|
|
|
NM_005654.6(NR2F1):c.*649T>C
|
|
|
NM_005654.6(NR2F1):c.*9C>T
|
rs202006298
|
|
NM_005654.6(NR2F1):c.-1751CT[11]
|
rs140194624
|
|
NM_005654.6(NR2F1):c.-1761A>G
|
|
|
NM_005654.6(NR2F1):c.1013C>G (p.Ala338Gly)
|
|
|
NM_005654.6(NR2F1):c.1016C>A (p.Ala339Asp)
|
rs773473731
|
|
NM_005654.6(NR2F1):c.1017C>G (p.Ala339=)
|
|
|
NM_005654.6(NR2F1):c.1021A>G (p.Ile341Val)
|
|
|
NM_005654.6(NR2F1):c.1023C>A (p.Ile341=)
|
|
|
NM_005654.6(NR2F1):c.1023C>G (p.Ile341Met)
|
|
|
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys)
|
rs2149946003
|
|
NM_005654.6(NR2F1):c.1024G>C (p.Glu342Gln)
|
|
|
NM_005654.6(NR2F1):c.102C>T (p.Gly34=)
|
|
|
NM_005654.6(NR2F1):c.1044G>A (p.Ser348=)
|
rs142689077
|
|
NM_005654.6(NR2F1):c.1044G>T (p.Ser348=)
|
|
|
NM_005654.6(NR2F1):c.1047del (p.Gln349fs)
|
|
|
NM_005654.6(NR2F1):c.104G>C (p.Gly35Ala)
|
|
|
NM_005654.6(NR2F1):c.104_115dup (p.Gly38_Glu39insGlyGlyAlaGly)
|
|
|
NM_005654.6(NR2F1):c.1050C>A (p.Cys350Ter)
|
rs530910180
|
|
NM_005654.6(NR2F1):c.1051G>A (p.Ala351Thr)
|
|
|
NM_005654.6(NR2F1):c.1060G>A (p.Glu354Lys)
|
|
|
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter)
|
rs763566932
|
|
NM_005654.6(NR2F1):c.1065C>T (p.Tyr355=)
|
|
|
NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)
|
|
|
NM_005654.6(NR2F1):c.106G>A (p.Gly36Ser)
|
|
|
NM_005654.6(NR2F1):c.1071G>C (p.Arg357Ser)
|
|
|
NM_005654.6(NR2F1):c.1075C>T (p.Gln359Ter)
|
|
|
NM_005654.6(NR2F1):c.1077_1084del (p.Tyr360fs)
|
|
|
NM_005654.6(NR2F1):c.107_115dup (p.Gly36_Gly38dup)
|
rs1414612574
|
|
NM_005654.6(NR2F1):c.1083del (p.Asn362fs)
|
rs2149946049
|
|
NM_005654.6(NR2F1):c.1086C>T (p.Asn362=)
|
|
|
NM_005654.6(NR2F1):c.1092C>T (p.Pro364=)
|
|
|
NM_005654.6(NR2F1):c.1096C>A (p.Arg366Ser)
|
rs764011372
|
|
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)
|
|
|
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His)
|
rs1753373048
|
|
NM_005654.6(NR2F1):c.110C>G (p.Ala37Gly)
|
|
|
NM_005654.6(NR2F1):c.110_115dup (p.Ala37_Gly38dup)
|
rs1159055932
|
|
NM_005654.6(NR2F1):c.1111C>T (p.Leu371=)
|
|
|
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro)
|
rs1554075105
|
|
NM_005654.6(NR2F1):c.1118G>A (p.Arg373Gln)
|
rs2149946068
|
|
NM_005654.6(NR2F1):c.111C>G (p.Ala37=)
|
rs1183108440
|
|
NM_005654.6(NR2F1):c.112G>A (p.Gly38Ser)
|
|
|
NM_005654.6(NR2F1):c.112G>T (p.Gly38Cys)
|
|
|
NM_005654.6(NR2F1):c.1134C>A (p.Arg378=)
|
rs755004144
|
|
NM_005654.6(NR2F1):c.1134C>T (p.Arg378=)
|
|
|
NM_005654.6(NR2F1):c.1135A>T (p.Thr379Ser)
|
|
|
NM_005654.6(NR2F1):c.1140G>A (p.Val380=)
|
|
|
NM_005654.6(NR2F1):c.1146C>T (p.Ser382=)
|
|
|
NM_005654.6(NR2F1):c.1149del (p.Val384fs)
|
|
|
NM_005654.6(NR2F1):c.114C>A (p.Gly38=)
|
|
|
NM_005654.6(NR2F1):c.114C>T (p.Gly38=)
|
rs986172152
|
|
NM_005654.6(NR2F1):c.1150G>A (p.Val384Ile)
|
|
|
NM_005654.6(NR2F1):c.1155C>T (p.Ile385=)
|
|
|
NM_005654.6(NR2F1):c.115G>A (p.Glu39Lys)
|
|
|
NM_005654.6(NR2F1):c.1165TTC[1] (p.Phe390del)
|
rs1064794459
|
|
NM_005654.6(NR2F1):c.1170C>G (p.Phe390Leu)
|
rs1420094450
|
|
NM_005654.6(NR2F1):c.1171G>A (p.Val391Ile)
|
|
|
NM_005654.6(NR2F1):c.1171del (p.Val391fs)
|
rs2149946118
|
|
NM_005654.6(NR2F1):c.117G>C (p.Glu39Asp)
|
|
|
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly)
|
rs2149946121
|
|
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
|
|
|
NM_005654.6(NR2F1):c.1192C>G (p.Pro398Ala)
|
|
|
NM_005654.6(NR2F1):c.1204C>G (p.Leu402Val)
|
|
|
NM_005654.6(NR2F1):c.1205T>G (p.Leu402Arg)
|
|
|
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)
|
|
|
NM_005654.6(NR2F1):c.1207_1209del (p.Ile403del)
|
rs2149946131
|
|
NM_005654.6(NR2F1):c.120del (p.Gln40fs)
|
rs1753206907
|
|
NM_005654.6(NR2F1):c.1210C>T (p.Arg404Cys)
|
|
|
NM_005654.6(NR2F1):c.1212C>A (p.Arg404=)
|
|
|
NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr)
|
rs1060499589
|
|
NM_005654.6(NR2F1):c.121C>T (p.Gln41Ter)
|
|
|
NM_005654.6(NR2F1):c.1231A>G (p.Ser411Gly)
|
|
|
NM_005654.6(NR2F1):c.1235G>C (p.Ser412Thr)
|
|
|
NM_005654.6(NR2F1):c.123G>A (p.Gln41=)
|
|
|
NM_005654.6(NR2F1):c.1241A>G (p.Asn414Ser)
|
rs1753375708
|
|
NM_005654.6(NR2F1):c.1262A>C (p.Gln421Pro)
|
|
|
NM_005654.6(NR2F1):c.1263G>A (p.Gln421=)
|
|
|
NM_005654.6(NR2F1):c.131C>T (p.Ala44Val)
|
rs1753207201
|
|
NM_005654.6(NR2F1):c.134G>C (p.Gly45Ala)
|
|
|
NM_005654.6(NR2F1):c.137C>G (p.Ser46Trp)
|
|
|
NM_005654.6(NR2F1):c.137C>T (p.Ser46Leu)
|
|
|
NM_005654.6(NR2F1):c.138G>C (p.Ser46=)
|
|
|
NM_005654.6(NR2F1):c.142_150del (p.Ala48_His50del)
|
|
|
NM_005654.6(NR2F1):c.14T>C (p.Val5Ala)
|
|
|
NM_005654.6(NR2F1):c.150C>G (p.His50Gln)
|
rs1272746750
|
|
NM_005654.6(NR2F1):c.162C>T (p.Thr54=)
|
rs557800691
|
|
NM_005654.6(NR2F1):c.165G>A (p.Pro55=)
|
|
|
NM_005654.6(NR2F1):c.165G>C (p.Pro55=)
|
rs772383390
|
|
NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter)
|
rs1753208096
|
|
NM_005654.6(NR2F1):c.172C>A (p.Pro58Thr)
|
rs936346582
|
|
NM_005654.6(NR2F1):c.173C>A (p.Pro58His)
|
|
|
NM_005654.6(NR2F1):c.174C>A (p.Pro58=)
|
rs1191057648
|
|
NM_005654.6(NR2F1):c.177A>G (p.Gly59=)
|
|
|
NM_005654.6(NR2F1):c.177_194del (p.Ala60_Gly65del)
|
|
|
NM_005654.6(NR2F1):c.179C>T (p.Ala60Val)
|
|
|
NM_005654.6(NR2F1):c.17G>A (p.Ser6Asn)
|
|
|
NM_005654.6(NR2F1):c.184G>A (p.Ala62Thr)
|
|
|
NM_005654.6(NR2F1):c.184G>C (p.Ala62Pro)
|
|
|
NM_005654.6(NR2F1):c.189C>T (p.Thr63=)
|
rs1753208796
|
|
NM_005654.6(NR2F1):c.191C>T (p.Pro64Leu)
|
|
|
NM_005654.6(NR2F1):c.193G>A (p.Gly65Ser)
|
rs201452963
|
|
NM_005654.6(NR2F1):c.197C>T (p.Thr66Met)
|
rs2149941519
|
|
NM_005654.6(NR2F1):c.198G>A (p.Thr66=)
|
|
|
NM_005654.6(NR2F1):c.1A>C (p.Met1Leu)
|
rs1064796799
|
|
NM_005654.6(NR2F1):c.1A>G (p.Met1Val)
|
rs1064796799
|
|
NM_005654.6(NR2F1):c.205G>C (p.Asp69His)
|
|
|
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs)
|
rs2149941524
|
|
NM_005654.6(NR2F1):c.210G>C (p.Lys70Asn)
|
|
|
NM_005654.6(NR2F1):c.218G>A (p.Gly73Asp)
|
rs2149941532
|
|
NM_005654.6(NR2F1):c.220C>T (p.Pro74Ser)
|
|
|
NM_005654.6(NR2F1):c.226G>A (p.Gly76Ser)
|
rs776195820
|
|
NM_005654.6(NR2F1):c.227G>C (p.Gly76Ala)
|
|
|
NM_005654.6(NR2F1):c.231G>C (p.Ser77=)
|
rs1234276128
|
|
NM_005654.6(NR2F1):c.233G>C (p.Gly78Ala)
|
|
|
NM_005654.6(NR2F1):c.239G>T (p.Ser80Ile)
|
rs1561523678
|
|
NM_005654.6(NR2F1):c.240_255del (p.Gln81fs)
|
|
|
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter)
|
rs2149941551
|
|
NM_005654.6(NR2F1):c.246G>A (p.Gln82=)
|
|
|
NM_005654.6(NR2F1):c.255G>C (p.Glu85Asp)
|
rs762719149
|
|
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg)
|
rs1753210329
|
|
NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe)
|
rs1554074665
|
|
NM_005654.6(NR2F1):c.262G>A (p.Val88Met)
|
rs886039714
|
|
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)
|
rs1561523716
|
|
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly)
|
|
|
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr)
|
|
|
NM_005654.6(NR2F1):c.274A>T (p.Lys92Ter)
|
|
|
NM_005654.6(NR2F1):c.278C>A (p.Ser93Ter)
|
rs1064797311
|
|
NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu)
|
rs1064797311
|
|
NM_005654.6(NR2F1):c.279G>T (p.Ser93=)
|
rs774052702
|
|
NM_005654.6(NR2F1):c.282C>A (p.Ser94Arg)
|
|
|
NM_005654.6(NR2F1):c.282C>T (p.Ser94=)
|
|
|
NM_005654.6(NR2F1):c.284G>A (p.Gly95Asp)
|
|
|
NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu)
|
rs2149941586
|
|
NM_005654.6(NR2F1):c.288G>A (p.Lys96=)
|
rs1580358607
|
|
NM_005654.6(NR2F1):c.289C>G (p.His97Asp)
|
rs1287146448
|
|
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr)
|
rs1287146448
|
|
NM_005654.6(NR2F1):c.290A>C (p.His97Pro)
|
rs1554074673
|
|
NM_005654.6(NR2F1):c.291C>T (p.His97=)
|
|
|
NM_005654.6(NR2F1):c.291_294dup (p.Gly99fs)
|
|
|
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His)
|
rs2149941592
|
|
NM_005654.6(NR2F1):c.296G>T (p.Gly99Val)
|
|
|
NM_005654.6(NR2F1):c.29A>G (p.Asp10Gly)
|
|
|
NM_005654.6(NR2F1):c.2T>A (p.Met1Lys)
|
|
|
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr)
|
rs886041216
|
|
NM_005654.6(NR2F1):c.303C>T (p.Phe101=)
|
|
|
NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg)
|
|
|
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys)
|
rs2149941603
|
|
NM_005654.6(NR2F1):c.310G>C (p.Glu104Gln)
|
|
|
NM_005654.6(NR2F1):c.311A>T (p.Glu104Val)
|
|
|
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser)
|
rs1554074677
|
|
NM_005654.6(NR2F1):c.314G>A (p.Gly105Asp)
|
rs1554074681
|
|
NM_005654.6(NR2F1):c.314G>C (p.Gly105Ala)
|
|
|
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr)
|
rs1131691826
|
|
NM_005654.6(NR2F1):c.319A>G (p.Lys107Glu)
|
|
|
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg)
|
rs2149941608
|
|
NM_005654.6(NR2F1):c.323G>A (p.Ser108Asn)
|
rs1554074682
|
|
NM_005654.6(NR2F1):c.323G>T (p.Ser108Ile)
|
rs1554074682
|
|
NM_005654.6(NR2F1):c.324T>C (p.Ser108=)
|
|
|
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu)
|
rs1753211889
|
|
NM_005654.6(NR2F1):c.328T>C (p.Phe110Leu)
|
rs2149941610
|
|
NM_005654.6(NR2F1):c.32C>T (p.Pro11Leu)
|
rs1276892077
|
|
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu)
|
rs2149941611
|
|
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys)
|
rs587777277
|
|
NM_005654.6(NR2F1):c.335G>C (p.Arg112Thr)
|
|
|
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg)
|
rs587777275
|
|
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)
|
|
|
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)
|
rs587777274
|
|
NM_005654.6(NR2F1):c.344G>T (p.Arg115Leu)
|
|
|
NM_005654.6(NR2F1):c.348del (p.Asn117fs)
|
|
|
NM_005654.6(NR2F1):c.351C>A (p.Asn117Lys)
|
rs1329040695
|
|
NM_005654.6(NR2F1):c.351C>T (p.Asn117=)
|
rs1329040695
|
|
NM_005654.6(NR2F1):c.353T>G (p.Leu118Ter)
|
rs1561523796
|
|
NM_005654.6(NR2F1):c.354_357del (p.Leu118fs)
|
rs1580358650
|
|
NM_005654.6(NR2F1):c.359A>G (p.Tyr120Cys)
|
|
|
NM_005654.6(NR2F1):c.359dup (p.Tyr120Ter)
|
rs2149941624
|
|
NM_005654.6(NR2F1):c.35A>G (p.Gln12Arg)
|
|
|
NM_005654.6(NR2F1):c.361A>G (p.Thr121Ala)
|
|
|
NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr)
|
|
|
NM_005654.6(NR2F1):c.365G>C (p.Cys122Ser)
|
rs1057522318
|
|
NM_005654.6(NR2F1):c.375C>G (p.Asn125Lys)
|
|
|
NM_005654.6(NR2F1):c.376A>C (p.Arg126=)
|
rs2149941634
|
|
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg)
|
rs863224903
|
|
NM_005654.6(NR2F1):c.384T>C (p.Cys128=)
|
|
|
NM_005654.6(NR2F1):c.391G>A (p.Asp131Asn)
|
rs2149941644
|
|
NM_005654.6(NR2F1):c.393C>T (p.Asp131=)
|
|
|
NM_005654.6(NR2F1):c.395A>G (p.Gln132Arg)
|
|
|
NM_005654.6(NR2F1):c.3G>A (p.Met1Ile)
|
|
|
NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys)
|
rs1022192010
|
|
NM_005654.6(NR2F1):c.404G>A (p.Arg135His)
|
|
|
NM_005654.6(NR2F1):c.404G>T (p.Arg135Leu)
|
|
|
NM_005654.6(NR2F1):c.410A>C (p.Gln137Pro)
|
|
|
NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr)
|
rs1057519434
|
|
NM_005654.6(NR2F1):c.414C>T (p.Cys138=)
|
rs1753212998
|
|
NM_005654.6(NR2F1):c.417A>T (p.Gln139His)
|
rs778199728
|
|
NM_005654.6(NR2F1):c.421T>G (p.Cys141Gly)
|
|
|
NM_005654.6(NR2F1):c.424C>G (p.Arg142Gly)
|
|
|
NM_005654.6(NR2F1):c.424C>T (p.Arg142Cys)
|
rs886041738
|
|
NM_005654.6(NR2F1):c.425G>A (p.Arg142His)
|
rs1554074684
|
|
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu)
|
rs1554074684
|
|
NM_005654.6(NR2F1):c.427_429delinsTT (p.Lys144fs)
|
rs2149941660
|
|
NM_005654.6(NR2F1):c.429C>T (p.Leu143=)
|
rs2149941661
|
|
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr)
|
rs1753213218
|
|
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)
|
|
|
NM_005654.6(NR2F1):c.448G>A (p.Gly150Ser)
|
|
|
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)
|
|
|
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)
|
|
|
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)
|
|
|
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile)
|
rs1580358677
|
|
NM_005654.6(NR2F1):c.459G>T (p.Arg153=)
|
rs1479279806
|
|
NM_005654.6(NR2F1):c.460G>A (p.Glu154Lys)
|
|
|
NM_005654.6(NR2F1):c.462_463+19del
|
|
|
NM_005654.6(NR2F1):c.463+13_463+15del
|
|
|
NM_005654.6(NR2F1):c.463+1G>A
|
rs1753213365
|
|
NM_005654.6(NR2F1):c.463+5A>C
|
|
|
NM_005654.6(NR2F1):c.463+6T>C
|
|
|
NM_005654.6(NR2F1):c.463+7A>G
|
|
|
NM_005654.6(NR2F1):c.464-11_464-8del
|
rs769788437
|
|
NM_005654.6(NR2F1):c.464-20TC[2]
|
|
|
NM_005654.6(NR2F1):c.464-7_464-6del
|
|
|
NM_005654.6(NR2F1):c.464-9_464-6del
|
|
|
NM_005654.6(NR2F1):c.471G>T (p.Gln157His)
|
|
|
NM_005654.6(NR2F1):c.495_496delinsAA (p.Pro166Thr)
|
|
|
NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu)
|
rs1753260850
|
|
NM_005654.6(NR2F1):c.49G>C (p.Gly17Arg)
|
|
|
NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter)
|
rs1306612236
|
|
NM_005654.6(NR2F1):c.513C>T (p.Tyr171=)
|
|
|
NM_005654.6(NR2F1):c.514G>C (p.Ala172Pro)
|
|
|
NM_005654.6(NR2F1):c.517C>T (p.Leu173Phe)
|
|
|
NM_005654.6(NR2F1):c.519C>T (p.Leu173=)
|
rs2149942955
|
|
NM_005654.6(NR2F1):c.528_542del (p.Asp177_Gly181del)
|
|
|
NM_005654.6(NR2F1):c.530A>G (p.Asp177Gly)
|
|
|
NM_005654.6(NR2F1):c.539A>G (p.Asn180Ser)
|
|
|
NM_005654.6(NR2F1):c.53G>T (p.Gly18Val)
|
|
|
NM_005654.6(NR2F1):c.53del (p.Gly18fs)
|
|
|
NM_005654.6(NR2F1):c.547del (p.Cys183fs)
|
|
|
NM_005654.6(NR2F1):c.549C>T (p.Cys183=)
|
|
|
NM_005654.6(NR2F1):c.559G>C (p.Gly187Arg)
|
|
|
NM_005654.6(NR2F1):c.565A>C (p.Ile189Leu)
|
|
|
NM_005654.6(NR2F1):c.574C>G (p.Leu192Val)
|
|
|
NM_005654.6(NR2F1):c.57C>T (p.Asn19=)
|
rs1197079076
|
|
NM_005654.6(NR2F1):c.585C>G (p.Ala195=)
|
|
|
NM_005654.6(NR2F1):c.58C>T (p.Pro20Ser)
|
|
|
NM_005654.6(NR2F1):c.594C>T (p.Tyr198=)
|
|
|
NM_005654.6(NR2F1):c.597del (p.Thr200fs)
|
|
|
NM_005654.6(NR2F1):c.597dup (p.Thr200fs)
|
rs2149942993
|
|
NM_005654.6(NR2F1):c.59C>A (p.Pro20His)
|
|
|
NM_005654.6(NR2F1):c.59C>T (p.Pro20Leu)
|
|
|
NM_005654.6(NR2F1):c.5C>T (p.Ala2Val)
|
|
|
NM_005654.6(NR2F1):c.601T>A (p.Ser201Thr)
|
rs368008985
|
|
NM_005654.6(NR2F1):c.60C>G (p.Pro20=)
|
rs753932507
|
|
NM_005654.6(NR2F1):c.60C>T (p.Pro20=)
|
|
|
NM_005654.6(NR2F1):c.616C>T (p.Gln206Ter)
|
|
|
NM_005654.6(NR2F1):c.632A>G (p.Asn211Ser)
|
|
|
NM_005654.6(NR2F1):c.632ACA[1] (p.Asn212del)
|
rs749118126
|
|
NM_005654.6(NR2F1):c.639T>A (p.Ile213=)
|
|
|
NM_005654.6(NR2F1):c.645C>G (p.Gly215=)
|
|
|
NM_005654.6(NR2F1):c.651G>A (p.Glu217=)
|
|
|
NM_005654.6(NR2F1):c.665T>C (p.Leu222Pro)
|
|
|
NM_005654.6(NR2F1):c.667_668insTCGCGCGCTGG (p.Ala223fs)
|
rs1753263819
|
|
NM_005654.6(NR2F1):c.66C>T (p.Gly22=)
|
rs971963375
|
|
NM_005654.6(NR2F1):c.674G>A (p.Arg225His)
|
|
|
NM_005654.6(NR2F1):c.674G>C (p.Arg225Pro)
|
|
|
NM_005654.6(NR2F1):c.677T>C (p.Leu226Pro)
|
|
|
NM_005654.6(NR2F1):c.677T>G (p.Leu226Arg)
|
|
|
NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup)
|
rs1753264180
|
|
NM_005654.6(NR2F1):c.687C>A (p.Ser229Arg)
|
|
|
NM_005654.6(NR2F1):c.690C>T (p.Ala230=)
|
|
|
NM_005654.6(NR2F1):c.69C>T (p.Pro23=)
|
rs1554074634
|
|
NM_005654.6(NR2F1):c.704G>T (p.Arg235Leu)
|
rs2149943041
|
|
NM_005654.6(NR2F1):c.711C>G (p.Ile237Met)
|
|
|
NM_005654.6(NR2F1):c.717C>G (p.Phe239Leu)
|
|
|
NM_005654.6(NR2F1):c.71A>G (p.Asn24Ser)
|
|
|
NM_005654.6(NR2F1):c.726T>C (p.Asp242=)
|
|
|
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter)
|
rs1554074850
|
|
NM_005654.6(NR2F1):c.72C>A (p.Asn24Lys)
|
rs1753205307
|
|
NM_005654.6(NR2F1):c.73C>G (p.Pro25Ala)
|
rs922976793
|
|
NM_005654.6(NR2F1):c.741C>T (p.Asp247=)
|
rs1753265081
|
|
NM_005654.6(NR2F1):c.748T>G (p.Ser250Ala)
|
|
|
NM_005654.6(NR2F1):c.74C>G (p.Pro25Arg)
|
rs2149941397
|
|
NM_005654.6(NR2F1):c.755T>A (p.Leu252Gln)
|
rs587777276
|
|
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)
|
rs587777276
|
|
NM_005654.6(NR2F1):c.75C>T (p.Pro25=)
|
|
|
NM_005654.6(NR2F1):c.763dup (p.Thr255fs)
|
|
|
NM_005654.6(NR2F1):c.764C>G (p.Thr255Ser)
|
|
|
NM_005654.6(NR2F1):c.76G>A (p.Ala26Thr)
|
|
|
NM_005654.6(NR2F1):c.76G>T (p.Ala26Ser)
|
|
|
NM_005654.6(NR2F1):c.788A>G (p.Asn263Ser)
|
|
|
NM_005654.6(NR2F1):c.791C>G (p.Ala264Gly)
|
|
|
NM_005654.6(NR2F1):c.79G>C (p.Ala27Pro)
|
|
|
NM_005654.6(NR2F1):c.801C>T (p.Cys267=)
|
rs1331078890
|
|
NM_005654.6(NR2F1):c.803C>A (p.Ser268Tyr)
|
|
|
NM_005654.6(NR2F1):c.807G>A (p.Met269Ile)
|
|
|
NM_005654.6(NR2F1):c.810G>A (p.Pro270=)
|
rs1561524973
|
|
NM_005654.6(NR2F1):c.816C>T (p.His272=)
|
|
|
NM_005654.6(NR2F1):c.81G>A (p.Ala27=)
|
|
|
NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter)
|
rs2149943098
|
|
NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter)
|
rs1342982789
|
|
NM_005654.6(NR2F1):c.834C>T (p.Ala278=)
|
rs1019282462
|
|
NM_005654.6(NR2F1):c.840C>T (p.Ala280=)
|
|
|
NM_005654.6(NR2F1):c.843C>T (p.Gly281=)
|
|
|
NM_005654.6(NR2F1):c.852C>T (p.Ala284=)
|
|
|
NM_005654.6(NR2F1):c.854C>T (p.Ser285Leu)
|
rs2149943117
|
|
NM_005654.6(NR2F1):c.856C>G (p.Pro286Ala)
|
|
|
NM_005654.6(NR2F1):c.85G>A (p.Ala29Thr)
|
|
|
NM_005654.6(NR2F1):c.867C>T (p.Ala289=)
|
rs768598143
|
|
NM_005654.6(NR2F1):c.86C>T (p.Ala29Val)
|
|
|
NM_005654.6(NR2F1):c.886A>G (p.Met296Val)
|
rs1281229857
|
|
NM_005654.6(NR2F1):c.892C>A (p.His298Asn)
|
|
|
NM_005654.6(NR2F1):c.894C>T (p.His298=)
|
|
|
NM_005654.6(NR2F1):c.898C>T (p.Arg300Cys)
|
|
|
NM_005654.6(NR2F1):c.899G>A (p.Arg300His)
|
|
|
NM_005654.6(NR2F1):c.89_133dup (p.Ala44_Gly45insAlaArgGlyGlyGlyGlyGlyAlaGlyGluGlnGlnGlnGlnAla)
|
|
|
NM_005654.6(NR2F1):c.901A>G (p.Ile301Val)
|
|
|
NM_005654.6(NR2F1):c.907C>T (p.Gln303Ter)
|
|
|
NM_005654.6(NR2F1):c.90C>A (p.Ala30=)
|
|
|
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs)
|
rs1580358347
|
|
NM_005654.6(NR2F1):c.916G>A (p.Val306Met)
|
rs2149943146
|
|
NM_005654.6(NR2F1):c.91C>A (p.Arg31Ser)
|
|
|
NM_005654.6(NR2F1):c.921G>C (p.Glu307Asp)
|
|
|
NM_005654.6(NR2F1):c.92GCG[3] (p.Gly34_Gly36del)
|
rs954495672
|
|
NM_005654.6(NR2F1):c.92GCG[4] (p.Gly35_Gly36del)
|
|
|
NM_005654.6(NR2F1):c.92GCG[5] (p.Gly36del)
|
|
|
NM_005654.6(NR2F1):c.92GCG[7] (p.Gly36dup)
|
rs954495672
|
|
NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly)
|
|
|
NM_005654.6(NR2F1):c.92GCG[9] (p.Gly34_Gly36dup)
|
rs954495672
|
|
NM_005654.6(NR2F1):c.92_93delinsAA (p.Arg31Gln)
|
|
|
NM_005654.6(NR2F1):c.940G>C (p.Val314Leu)
|
|
|
NM_005654.6(NR2F1):c.945C>T (p.Asp315=)
|
|
|
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)
|
|
|
NM_005654.6(NR2F1):c.952G>T (p.Glu318Ter)
|
rs2149943169
|
|
NM_005654.6(NR2F1):c.953A>G (p.Glu318Gly)
|
rs2149943173
|
|
NM_005654.6(NR2F1):c.968_969del (p.Lys323fs)
|
rs1580360308
|
|
NM_005654.6(NR2F1):c.973A>G (p.Ile325Val)
|
|
|
NM_005654.6(NR2F1):c.974T>C (p.Ile325Thr)
|
|
|
NM_005654.6(NR2F1):c.975C>T (p.Ile325=)
|
|
|
NM_005654.6(NR2F1):c.981G>A (p.Leu327=)
|
|
|
NM_005654.6(NR2F1):c.986C>T (p.Thr329Met)
|
|
|
NM_005654.6(NR2F1):c.986_990del (p.Thr329fs)
|
rs1753268855
|
|
NM_005654.6(NR2F1):c.988T>G (p.Ser330Ala)
|
|
|
NM_005654.6(NR2F1):c.991+10C>A
|
rs1554074872
|
|
NM_005654.6(NR2F1):c.991+12del
|
rs774050994
|
|
NM_005654.6(NR2F1):c.991+17_991+38dup
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NM_005654.6(NR2F1):c.991+2T>A
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NM_005654.6(NR2F1):c.991+5G>A
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NM_005654.6(NR2F1):c.991+9G>A
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NM_005654.6(NR2F1):c.992-16G>A
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rs946631304
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NM_005654.6(NR2F1):c.992-19C>T
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NM_005654.6(NR2F1):c.992-6G>T
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NM_005654.6(NR2F1):c.994G>A (p.Ala332Thr)
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NM_005654.6(NR2F1):c.997T>G (p.Cys333Gly)
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NM_005654.6(NR2F1):c.99C>A (p.Gly33=)
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