NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)
|
rs139770726
|
0.00059
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg)
|
rs1013724730
|
0.00029
|
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser)
|
rs919904139
|
0.00021
|
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)
|
rs373582542
|
0.00021
|
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile)
|
rs770428240
|
0.00018
|
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)
|
rs142737453
|
0.00017
|
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser)
|
rs770636941
|
0.00015
|
NM_005373.3(MPL):c.619G>A (p.Asp207Asn)
|
rs201385967
|
0.00015
|
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
|
rs575895733
|
0.00014
|
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val)
|
rs199564714
|
0.00014
|
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr)
|
rs921077083
|
0.00011
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
0.00010
|
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn)
|
rs199862937
|
0.00009
|
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr)
|
rs758092761
|
0.00009
|
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)
|
rs3820551
|
0.00009
|
NM_005373.3(MPL):c.313T>C (p.Phe105Leu)
|
rs145313814
|
0.00009
|
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys)
|
rs376292686
|
0.00009
|
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr)
|
rs781129632
|
0.00008
|
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
|
rs146086025
|
0.00008
|
NM_207122.2(EXT2):c.744-6T>A
|
rs755926713
|
0.00008
|
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile)
|
rs920291906
|
0.00007
|
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
|
rs771803942
|
0.00007
|
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln)
|
rs745890180
|
0.00006
|
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe)
|
rs772883826
|
0.00006
|
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
|
rs750116273
|
0.00006
|
NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser)
|
rs375833261
|
0.00006
|
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val)
|
rs372931505
|
0.00006
|
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg)
|
rs201061067
|
0.00006
|
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)
|
rs111460954
|
0.00006
|
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
|
rs540229057
|
0.00006
|
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)
|
rs141256266
|
0.00006
|
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg)
|
rs367897723
|
0.00006
|
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn)
|
rs200631641
|
0.00006
|
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser)
|
rs1455462308
|
0.00005
|
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)
|
rs201998783
|
0.00005
|
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu)
|
rs776907891
|
0.00005
|
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu)
|
rs772530256
|
0.00005
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp)
|
rs757297287
|
0.00005
|
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys)
|
rs146316660
|
0.00005
|
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
|
rs770821909
|
0.00005
|
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp)
|
rs746522150
|
0.00004
|
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr)
|
rs892805896
|
0.00004
|
NM_004364.5(CEBPA):c.155T>C (p.Leu52Pro)
|
rs936973108
|
0.00004
|
NM_004364.5(CEBPA):c.325C>T (p.Pro109Ser)
|
rs1027991203
|
0.00004
|
NM_004364.5(CEBPA):c.392A>T (p.Tyr131Phe)
|
rs1300977671
|
0.00004
|
NM_004364.5(CEBPA):c.860T>C (p.Val287Ala)
|
rs1250168874
|
0.00004
|
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp)
|
rs1306818311
|
0.00004
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
NM_005373.3(MPL):c.548C>T (p.Thr183Met)
|
rs137952228
|
0.00004
|
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
|
rs145903120
|
0.00004
|
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys)
|
rs781283626
|
0.00004
|
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg)
|
rs200032672
|
0.00004
|
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)
|
rs549810739
|
0.00004
|
NM_207122.2(EXT2):c.94A>G (p.Ile32Val)
|
rs769478020
|
0.00004
|
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
|
rs145611597
|
0.00004
|
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn)
|
rs148493676
|
0.00004
|
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)
|
rs371233961
|
0.00003
|
NM_000127.3(EXT1):c.1143C>T (p.Gly381=)
|
rs376640197
|
0.00003
|
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)
|
rs756701753
|
0.00003
|
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly)
|
rs147847222
|
0.00003
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)
|
rs587778192
|
0.00003
|
NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg)
|
rs775099224
|
0.00003
|
NM_004364.5(CEBPA):c.1060A>G (p.Met354Val)
|
rs1060502122
|
0.00003
|
NM_004364.5(CEBPA):c.256C>T (p.Arg86Trp)
|
rs1555742243
|
0.00003
|
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu)
|
rs1311096326
|
0.00003
|
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser)
|
rs1328994773
|
0.00003
|
NM_004364.5(CEBPA):c.421G>T (p.Gly141Cys)
|
rs1408671093
|
0.00003
|
NM_004364.5(CEBPA):c.527C>T (p.Ala176Val)
|
rs957167825
|
0.00003
|
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro)
|
rs867463920
|
0.00003
|
NM_005373.3(MPL):c.212G>A (p.Arg71Gln)
|
rs368753117
|
0.00003
|
NM_005373.3(MPL):c.22A>G (p.Met8Val)
|
rs572208458
|
0.00003
|
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)
|
rs144210383
|
0.00003
|
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)
|
rs776753502
|
0.00003
|
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu)
|
rs773613001
|
0.00003
|
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala)
|
rs1470381472
|
0.00003
|
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys)
|
rs145507609
|
0.00003
|
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
|
rs771039412
|
0.00003
|
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys)
|
rs762657738
|
0.00003
|
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp)
|
rs183424469
|
0.00003
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
|
rs763107867
|
0.00002
|
NM_000127.3(EXT1):c.1705G>A (p.Val569Met)
|
rs1428345482
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro)
|
rs758347621
|
0.00002
|
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
|
rs765050783
|
0.00002
|
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln)
|
rs748651137
|
0.00002
|
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr)
|
rs996435066
|
0.00002
|
NM_004364.5(CEBPA):c.252C>G (p.His84Gln)
|
rs878854700
|
0.00002
|
NM_004364.5(CEBPA):c.261G>T (p.Gln87His)
|
rs868242502
|
0.00002
|
NM_004364.5(CEBPA):c.535T>C (p.Phe179Leu)
|
rs1033194020
|
0.00002
|
NM_004364.5(CEBPA):c.551C>G (p.Pro184Arg)
|
rs1457318927
|
0.00002
|
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala)
|
rs1162371435
|
0.00002
|
NM_004364.5(CEBPA):c.830C>T (p.Ser277Leu)
|
rs1269133775
|
0.00002
|
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile)
|
rs971458513
|
0.00002
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro)
|
rs587778513
|
0.00002
|
NM_005373.3(MPL):c.1805T>C (p.Met602Thr)
|
rs770770219
|
0.00002
|
NM_005373.3(MPL):c.292C>G (p.Gln98Glu)
|
rs752682807
|
0.00002
|
NM_005373.3(MPL):c.775G>A (p.Glu259Lys)
|
rs528834914
|
0.00002
|
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys)
|
rs758785296
|
0.00002
|
NM_207122.2(EXT2):c.1079+5G>A
|
rs773025398
|
0.00002
|
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr)
|
rs199711832
|
0.00002
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00002
|
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly)
|
rs760086935
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_207122.2(EXT2):c.1935G>A (p.Lys645=)
|
rs752606551
|
0.00002
|
NM_207122.2(EXT2):c.343G>A (p.Val115Met)
|
rs1470293557
|
0.00002
|
NM_207122.2(EXT2):c.497G>A (p.Arg166His)
|
rs772821141
|
0.00002
|
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys)
|
rs117329700
|
0.00002
|
NM_207122.2(EXT2):c.890G>A (p.Arg297His)
|
rs773482624
|
0.00002
|
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys)
|
rs757411850
|
0.00001
|
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val)
|
rs773539946
|
0.00001
|
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys)
|
rs1375505148
|
0.00001
|
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys)
|
rs750748090
|
0.00001
|
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)
|
rs778048374
|
0.00001
|
NM_000127.3(EXT1):c.1536+6C>T
|
rs765347315
|
0.00001
|
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly)
|
rs1368926188
|
0.00001
|
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)
|
rs777698557
|
0.00001
|
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu)
|
rs1305323658
|
0.00001
|
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg)
|
rs1309175788
|
0.00001
|
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
|
rs1823254644
|
0.00001
|
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
|
rs146967463
|
0.00001
|
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn)
|
rs1252579899
|
0.00001
|
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
|
rs773393953
|
0.00001
|
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
|
rs1373349863
|
0.00001
|
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
|
rs1188494289
|
0.00001
|
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
|
rs376231630
|
0.00001
|
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu)
|
rs778849200
|
0.00001
|
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)
|
rs1384997375
|
0.00001
|
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
|
rs146127753
|
0.00001
|
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)
|
rs752226935
|
0.00001
|
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
|
rs773394301
|
0.00001
|
NM_000127.3(EXT1):c.419G>T (p.Gly140Val)
|
rs769557488
|
0.00001
|
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)
|
rs776678803
|
0.00001
|
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser)
|
rs753036738
|
0.00001
|
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)
|
rs1394508840
|
0.00001
|
NM_004364.5(CEBPA):c.1000G>C (p.Glu334Gln)
|
rs369632687
|
0.00001
|
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met)
|
rs760372994
|
0.00001
|
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp)
|
rs1410617603
|
0.00001
|
NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys)
|
rs1439202716
|
0.00001
|
NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly)
|
rs577659401
|
0.00001
|
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser)
|
rs1415169403
|
0.00001
|
NM_004364.5(CEBPA):c.131C>T (p.Ala44Val)
|
rs1967197829
|
0.00001
|
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu)
|
rs1346240180
|
0.00001
|
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser)
|
rs1182161658
|
0.00001
|
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu)
|
rs1341205888
|
0.00001
|
NM_004364.5(CEBPA):c.179C>T (p.Thr60Met)
|
rs1060502119
|
0.00001
|
NM_004364.5(CEBPA):c.187G>A (p.Asp63Asn)
|
rs1452063514
|
0.00001
|
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu)
|
rs949548349
|
0.00001
|
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu)
|
rs917977456
|
0.00001
|
NM_004364.5(CEBPA):c.298G>A (p.Gly100Ser)
|
rs1289919155
|
0.00001
|
NM_004364.5(CEBPA):c.305G>A (p.Gly102Asp)
|
rs1358539228
|
0.00001
|
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr)
|
rs1158593564
|
0.00001
|
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala)
|
rs1027991203
|
0.00001
|
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser)
|
rs996591962
|
0.00001
|
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala)
|
rs957253046
|
0.00001
|
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu)
|
rs1600023321
|
0.00001
|
NM_004364.5(CEBPA):c.373C>T (p.His125Tyr)
|
rs896656951
|
0.00001
|
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala)
|
rs1055210725
|
0.00001
|
NM_004364.5(CEBPA):c.382C>T (p.Pro128Ser)
|
rs1362518517
|
0.00001
|
NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala)
|
rs1379627026
|
0.00001
|
NM_004364.5(CEBPA):c.413A>T (p.Tyr138Phe)
|
rs908433906
|
0.00001
|
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile)
|
rs1366281839
|
0.00001
|
NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln)
|
rs1198903435
|
0.00001
|
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys)
|
rs1967182561
|
0.00001
|
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys)
|
rs755311871
|
0.00001
|
NM_004364.5(CEBPA):c.51C>A (p.Ser17Arg)
|
rs1245499278
|
0.00001
|
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg)
|
rs1223584541
|
0.00001
|
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val)
|
rs1325138029
|
0.00001
|
NM_004364.5(CEBPA):c.541T>C (p.Tyr181His)
|
rs1060502124
|
0.00001
|
NM_004364.5(CEBPA):c.547C>T (p.Pro183Ser)
|
rs998501847
|
0.00001
|
NM_004364.5(CEBPA):c.569C>T (p.Ser190Leu)
|
rs1555742114
|
0.00001
|
NM_004364.5(CEBPA):c.575C>T (p.Pro192Leu)
|
rs1247330890
|
0.00001
|
NM_004364.5(CEBPA):c.593C>T (p.Pro198Leu)
|
rs1568419736
|
0.00001
|
NM_004364.5(CEBPA):c.59A>G (p.Gln20Arg)
|
rs1329725504
|
0.00001
|
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser)
|
rs1347174767
|
0.00001
|
NM_004364.5(CEBPA):c.652A>G (p.Met218Val)
|
rs1378898437
|
0.00001
|
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu)
|
rs1308550194
|
0.00001
|
NM_004364.5(CEBPA):c.697C>A (p.Pro233Thr)
|
rs933936962
|
0.00001
|
NM_004364.5(CEBPA):c.733G>A (p.Gly245Ser)
|
rs1315043080
|
0.00001
|
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala)
|
rs1189516787
|
0.00001
|
NM_004364.5(CEBPA):c.754G>T (p.Ala252Ser)
|
rs1049967
|
0.00001
|
NM_004364.5(CEBPA):c.773C>G (p.Ala258Gly)
|
rs1340981881
|
0.00001
|
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val)
|
rs746895795
|
0.00001
|
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser)
|
rs1263173603
|
0.00001
|
NM_004364.5(CEBPA):c.787C>T (p.Leu263Phe)
|
rs1357810737
|
0.00001
|
NM_004364.5(CEBPA):c.790C>T (p.Arg264Cys)
|
rs1228704709
|
0.00001
|
NM_004364.5(CEBPA):c.791G>C (p.Arg264Pro)
|
rs1294426980
|
0.00001
|
NM_004364.5(CEBPA):c.803G>T (p.Gly268Val)
|
rs780335632
|
0.00001
|
NM_004364.5(CEBPA):c.892A>C (p.Lys298Gln)
|
rs1392203731
|
0.00001
|
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg)
|
rs1391793930
|
0.00001
|
NM_004364.5(CEBPA):c.913C>A (p.Gln305Lys)
|
rs747606716
|
0.00001
|
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly)
|
rs1422138876
|
0.00001
|
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile)
|
rs779132175
|
0.00001
|
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp)
|
rs938821234
|
0.00001
|
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp)
|
rs886046351
|
0.00001
|
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu)
|
rs561724539
|
0.00001
|
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro)
|
rs1207248925
|
0.00001
|
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser)
|
rs1018549208
|
0.00001
|
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly)
|
rs1328988667
|
0.00001
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
NM_005373.3(MPL):c.464A>T (p.Glu155Val)
|
rs780341646
|
0.00001
|
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr)
|
rs1313333589
|
0.00001
|
NM_005373.3(MPL):c.809G>A (p.Gly270Glu)
|
rs1361284210
|
0.00001
|
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)
|
rs371996957
|
0.00001
|
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val)
|
rs1279920600
|
0.00001
|
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)
|
rs747153343
|
0.00001
|
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val)
|
rs1473876438
|
0.00001
|
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys)
|
rs1403873034
|
0.00001
|
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu)
|
rs1053473840
|
0.00001
|
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu)
|
rs1955475218
|
0.00001
|
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val)
|
rs779292816
|
0.00001
|
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser)
|
rs1360036719
|
0.00001
|
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser)
|
rs1590640131
|
0.00001
|
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met)
|
rs145279140
|
0.00001
|
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp)
|
rs750549318
|
0.00001
|
NM_207122.2(EXT2):c.1575T>G (p.Pro525=)
|
rs372914384
|
0.00001
|
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr)
|
rs766600182
|
0.00001
|
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln)
|
rs773705067
|
0.00001
|
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro)
|
rs771936445
|
0.00001
|
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp)
|
rs755625888
|
0.00001
|
NM_207122.2(EXT2):c.266C>T (p.Thr89Met)
|
rs143048174
|
0.00001
|
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile)
|
rs147587178
|
0.00001
|
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn)
|
rs1038984851
|
0.00001
|
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu)
|
rs762533540
|
0.00001
|
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)
|
rs550761834
|
0.00001
|
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser)
|
rs1208541215
|
0.00001
|
NM_207122.2(EXT2):c.656C>T (p.Thr219Met)
|
rs202208526
|
0.00001
|
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)
|
rs201062014
|
0.00001
|
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
|
rs375468766
|
0.00001
|
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)
|
rs762292898
|
0.00001
|
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn)
|
rs1182974716
|
0.00001
|
NC_000001.10:g.(?_43812096)_(43818443_?)dup
|
|
|
NC_000008.10:g.(?_117647788)_(120797526_?)dup
|
|
|
NC_000008.10:g.(?_118819446)_(119123285_?)dup
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)dup
|
|
|
NC_000011.9:g.(?_44219359)_(44228529_?)del
|
|
|
NC_000019.9:g.(?_33532300)_(33793320_?)dup
|
|
|
NC_000019.9:g.(?_33792234)_(33793330_?)dup
|
|
|
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg)
|
rs1587004341
|
|
NM_000127.3(EXT1):c.1013G>A (p.Arg338His)
|
rs1288618931
|
|
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu)
|
rs1206600641
|
|
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
|
|
|
NM_000127.3(EXT1):c.1056+4A>G
|
|
|
NM_000127.3(EXT1):c.1057-8T>C
|
|
|
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
|
|
|
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
|
|
|
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr)
|
rs1812173796
|
|
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del)
|
rs1782100732
|
|
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)
|
rs747020325
|
|
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
|
|
|
NM_000127.3(EXT1):c.1164+3A>G
|
|
|
NM_000127.3(EXT1):c.1165-3C>G
|
rs1812078461
|
|
NM_000127.3(EXT1):c.1165-6T>G
|
rs1812078551
|
|
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
|
|
|
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
|
|
|
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
|
|
|
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
|
|
|
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
|
|
|
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
|
|
|
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
|
|
|
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
|
|
|
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
|
rs1812077443
|
|
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys)
|
rs755694640
|
|
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
|
rs1812075737
|
|
NM_000127.3(EXT1):c.1284+2dup
|
|
|
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe)
|
rs2129749685
|
|
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
|
|
|
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
|
|
|
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
|
|
|
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
|
|
|
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
|
|
|
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
|
|
|
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
|
|
|
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
|
rs1811942159
|
|
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
|
rs1430395411
|
|
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
|
|
|
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
|
|
|
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly)
|
rs2129749125
|
|
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser)
|
rs2129749069
|
|
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr)
|
rs746738537
|
|
NM_000127.3(EXT1):c.1417+6T>C
|
rs1811940247
|
|
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
|
|
|
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
|
|
|
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn)
|
rs759514310
|
|
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
|
|
|
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
|
|
|
NM_000127.3(EXT1):c.1536+3G>A
|
rs2129740657
|
|
NM_000127.3(EXT1):c.1536+5G>C
|
|
|
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
|
rs1811889486
|
|
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
|
|
|
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
|
|
|
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
|
|
|
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
|
|
|
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
|
|
|
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
|
|
|
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
|
|
|
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
|
|
|
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr)
|
rs751582814
|
|
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
|
|
|
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
|
|
|
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
|
|
|
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
|
|
|
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr)
|
rs2130045112
|
|
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
|
|
|
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
|
|
|
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
|
|
|
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)
|
rs755747479
|
|
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
|
|
|
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
|
rs1823251698
|
|
NM_000127.3(EXT1):c.1883+6del
|
|
|
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
|
|
|
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
|
|
|
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
|
rs1823215172
|
|
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
|
|
|
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
|
rs187891947
|
|
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
|
rs1199624139
|
|
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
|
|
|
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
|
rs1823214606
|
|
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
|
|
|
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
|
|
|
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp)
|
rs2130046079
|
|
NM_000127.3(EXT1):c.200C>A (p.Pro67His)
|
rs371817652
|
|
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)
|
rs371817652
|
|
NM_000127.3(EXT1):c.2055+5G>A
|
rs1823212383
|
|
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
|
|
|
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys)
|
rs1586987089
|
|
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
|
|
|
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met)
|
rs756718693
|
|
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
|
|
|
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
|
|
|
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
|
rs751787859
|
|
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
|
|
|
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
|
|
|
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
|
|
|
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
|
|
|
NM_000127.3(EXT1):c.238A>G (p.Ile80Val)
|
rs1817886276
|
|
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
|
|
|
NM_000127.3(EXT1):c.260A>T (p.Asp87Val)
|
rs2130044605
|
|
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
|
|
|
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn)
|
rs1402667727
|
|
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
|
|
|
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn)
|
rs2130044422
|
|
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
|
rs1817884143
|
|
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe)
|
rs769143352
|
|
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe)
|
rs2130044245
|
|
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)
|
rs1178109514
|
|
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
|
|
|
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu)
|
rs761940324
|
|
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
|
|
|
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
|
|
|
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
|
|
|
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
|
|
|
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
|
rs1817880635
|
|
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
|
rs1188458258
|
|
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
|
rs1817880148
|
|
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
|
|
|
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr)
|
rs2130043370
|
|
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
|
|
|
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
|
rs1227559201
|
|
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp)
|
rs1448140995
|
|
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
|
|
|
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
|
|
|
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
|
|
|
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
|
rs775696069
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
|
rs1817877229
|
|
NM_000127.3(EXT1):c.568_570del (p.His190del)
|
rs1817877188
|
|
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
|
|
|
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
|
rs1817877044
|
|
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu)
|
rs2130042837
|
|
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
|
rs1817876310
|
|
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
|
rs1817893321
|
|
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
|
|
|
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
|
|
|
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
|
|
|
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly)
|
rs1554601506
|
|
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
|
|
|
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
|
|
|
NM_000127.3(EXT1):c.692_694del (p.Asp231del)
|
rs1817873196
|
|
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
|
|
|
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
|
|
|
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
|
|
|
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
|
|
|
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
|
|
|
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
|
rs1817871592
|
|
NM_000127.3(EXT1):c.773C>A (p.Pro258His)
|
rs2130041856
|
|
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile)
|
rs2130041754
|
|
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
|
|
|
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr)
|
rs2130041549
|
|
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr)
|
rs1586279403
|
|
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
|
|
|
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
|
|
|
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
|
|
|
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
|
|
|
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
|
|
|
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
|
rs372750330
|
|
NM_000127.3(EXT1):c.874G>T (p.Val292Phe)
|
rs1586279359
|
|
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
|
rs1817868656
|
|
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
|
|
|
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg)
|
rs1413726979
|
|
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
|
rs1817867722
|
|
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
|
|
|
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
|
rs748945641
|
|
NM_000127.3(EXT1):c.962+5G>C
|
|
|
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
|
|
|
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
|
|
|
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
|
|
|
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
|
rs2129791337
|
|
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
|
|
|
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys)
|
rs369632687
|
|
NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)
|
|
|
NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly)
|
rs2145258387
|
|
NM_004364.5(CEBPA):c.100C>T (p.Pro34Ser)
|
rs996435066
|
|
NM_004364.5(CEBPA):c.1011G>C (p.Thr337=)
|
|
|
NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala)
|
|
|
NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val)
|
rs1967158283
|
|
NM_004364.5(CEBPA):c.1025dup (p.Arg343fs)
|
rs1967158182
|
|
NM_004364.5(CEBPA):c.1028G>A (p.Arg343His)
|
rs1264760427
|
|
NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu)
|
rs1967157714
|
|
NM_004364.5(CEBPA):c.1035G>A (p.Leu345=)
|
|
|
NM_004364.5(CEBPA):c.1035G>T (p.Leu345=)
|
|
|
NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg)
|
rs1967157361
|
|
NM_004364.5(CEBPA):c.1039G>C (p.Glu347Gln)
|
|
|
NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp)
|
rs1238054852
|
|
NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg)
|
|
|
NM_004364.5(CEBPA):c.1045T>A (p.Ser349Thr)
|
|
|
NM_004364.5(CEBPA):c.1045T>C (p.Ser349Pro)
|
rs1060502117
|
|
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln)
|
rs1967200345
|
|
NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu)
|
rs373210526
|
|
NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr)
|
rs1317158199
|
|
NM_004364.5(CEBPA):c.1060A>C (p.Met354Leu)
|
rs1060502122
|
|
NM_004364.5(CEBPA):c.1063G>A (p.Gly355Ser)
|
|
|
NM_004364.5(CEBPA):c.1064G>A (p.Gly355Asp)
|
rs1358286265
|
|
NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val)
|
rs1358286265
|
|
NM_004364.5(CEBPA):c.1066A>T (p.Asn356Tyr)
|
rs543441756
|
|
NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser)
|
|
|
NM_004364.5(CEBPA):c.1069_*2del (p.Cys357fs)
|
|
|
NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser)
|
rs1967200117
|
|
NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr)
|
|
|
NM_004364.5(CEBPA):c.1071C>A (p.Cys357Ter)
|
|
|
NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp)
|
rs1162154287
|
|
NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val)
|
rs577659401
|
|
NM_004364.5(CEBPA):c.1074G>A (p.Ala358=)
|
|
|
NM_004364.5(CEBPA):c.109G>A (p.Ala37Thr)
|
rs1404014711
|
|
NM_004364.5(CEBPA):c.110C>T (p.Ala37Val)
|
|
|
NM_004364.5(CEBPA):c.112G>A (p.Gly38Ser)
|
|
|
NM_004364.5(CEBPA):c.112G>T (p.Gly38Cys)
|
|
|
NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp)
|
rs1967199337
|
|
NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala)
|
rs1967199149
|
|
NM_004364.5(CEBPA):c.116C>G (p.Pro39Arg)
|
|
|
NM_004364.5(CEBPA):c.116C>T (p.Pro39Leu)
|
rs1060502125
|
|
NM_004364.5(CEBPA):c.118G>A (p.Ala40Thr)
|
|
|
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val)
|
rs1967198676
|
|
NM_004364.5(CEBPA):c.123G>C (p.Gln41His)
|
|
|
NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser)
|
rs1382321984
|
|
NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe)
|
rs2145264332
|
|
NM_004364.5(CEBPA):c.127C>T (p.Pro43Ser)
|
|
|
NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del)
|
rs1967197350
|
|
NM_004364.5(CEBPA):c.132_133delinsAA (p.Pro45Thr)
|
|
|
NM_004364.5(CEBPA):c.133C>G (p.Pro45Ala)
|
rs2145264273
|
|
NM_004364.5(CEBPA):c.134C>T (p.Pro45Leu)
|
|
|
NM_004364.5(CEBPA):c.13G>C (p.Asp5His)
|
rs2145265106
|
|
NM_004364.5(CEBPA):c.140C>T (p.Ala47Val)
|
rs1444506221
|
|
NM_004364.5(CEBPA):c.142G>T (p.Ala48Ser)
|
|
|
NM_004364.5(CEBPA):c.145C>A (p.Pro49Thr)
|
rs2145264153
|
|
NM_004364.5(CEBPA):c.146C>G (p.Pro49Arg)
|
|
|
NM_004364.5(CEBPA):c.146C>T (p.Pro49Leu)
|
|
|
NM_004364.5(CEBPA):c.14A>C (p.Asp5Ala)
|
rs1555742334
|
|
NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala)
|
rs1278513408
|
|
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser)
|
rs1278513408
|
|
NM_004364.5(CEBPA):c.156G>T (p.Leu52=)
|
|
|
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)
|
rs1967196253
|
|
NM_004364.5(CEBPA):c.158G>T (p.Gly53Val)
|
rs1600024079
|
|
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser)
|
rs777090929
|
|
NM_004364.5(CEBPA):c.160G>C (p.Gly54Arg)
|
|
|
NM_004364.5(CEBPA):c.168_169delinsGA (p.Cys56_Glu57delinsTrpLys)
|
|
|
NM_004364.5(CEBPA):c.169G>A (p.Glu57Lys)
|
|
|
NM_004364.5(CEBPA):c.16T>A (p.Phe6Ile)
|
rs1600024682
|
|
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp)
|
rs1967195766
|
|
NM_004364.5(CEBPA):c.171G>T (p.Glu57Asp)
|
|
|
NM_004364.5(CEBPA):c.174C>A (p.His58Gln)
|
|
|
NM_004364.5(CEBPA):c.174C>G (p.His58Gln)
|
rs878854699
|
|
NM_004364.5(CEBPA):c.178A>T (p.Thr60Ser)
|
rs1060502120
|
|
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val)
|
rs558462037
|
|
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met)
|
rs1967195162
|
|
NM_004364.5(CEBPA):c.187G>C (p.Asp63His)
|
rs1452063514
|
|
NM_004364.5(CEBPA):c.190A>G (p.Ile64Val)
|
rs1600023975
|
|
NM_004364.5(CEBPA):c.192C>T (p.Ile64=)
|
|
|
NM_004364.5(CEBPA):c.195C>G (p.Ser65Arg)
|
|
|
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr)
|
rs1967194734
|
|
NM_004364.5(CEBPA):c.196G>T (p.Ala66Ser)
|
|
|
NM_004364.5(CEBPA):c.198C>T (p.Ala66=)
|
|
|
NM_004364.5(CEBPA):c.205G>C (p.Asp69His)
|
|
|
NM_004364.5(CEBPA):c.207C>G (p.Asp69Glu)
|
|
|
NM_004364.5(CEBPA):c.208C>A (p.Pro70Thr)
|
rs2145263768
|
|
NM_004364.5(CEBPA):c.209C>A (p.Pro70Gln)
|
rs1600023907
|
|
NM_004364.5(CEBPA):c.209C>T (p.Pro70Leu)
|
rs1600023907
|
|
NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr)
|
rs1555742260
|
|
NM_004364.5(CEBPA):c.212C>T (p.Ala71Val)
|
|
|
NM_004364.5(CEBPA):c.214G>T (p.Ala72Ser)
|
rs2145263697
|
|
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)
|
|
|
NM_004364.5(CEBPA):c.218T>G (p.Phe73Cys)
|
rs1555742258
|
|
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del)
|
rs1600023841
|
|
NM_004364.5(CEBPA):c.223G>A (p.Asp75Asn)
|
rs2145263642
|
|
NM_004364.5(CEBPA):c.225C>A (p.Asp75Glu)
|
rs949548349
|
|
NM_004364.5(CEBPA):c.226G>C (p.Glu76Gln)
|
|
|
NM_004364.5(CEBPA):c.227A>T (p.Glu76Val)
|
rs2145263620
|
|
NM_004364.5(CEBPA):c.228G>C (p.Glu76Asp)
|
|
|
NM_004364.5(CEBPA):c.22G>A (p.Glu8Lys)
|
rs1600024672
|
|
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln)
|
rs1967193304
|
|
NM_004364.5(CEBPA):c.236C>A (p.Ala79Asp)
|
|
|
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly)
|
rs1367071880
|
|
NM_004364.5(CEBPA):c.255C>A (p.Ser85Arg)
|
rs1424809396
|
|
NM_004364.5(CEBPA):c.257G>T (p.Arg86Leu)
|
rs1424468512
|
|
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro)
|
rs1967192346
|
|
NM_004364.5(CEBPA):c.263A>G (p.Gln88Arg)
|
rs2145263423
|
|
NM_004364.5(CEBPA):c.265_267del (p.Glu89del)
|
rs747773004
|
|
NM_004364.5(CEBPA):c.267G>T (p.Glu89Asp)
|
|
|
NM_004364.5(CEBPA):c.269A>C (p.Lys90Thr)
|
rs1600023742
|
|
NM_004364.5(CEBPA):c.26C>A (p.Ala9Glu)
|
rs2145265055
|
|
NM_004364.5(CEBPA):c.26C>T (p.Ala9Val)
|
|
|
NM_004364.5(CEBPA):c.270G>T (p.Lys90Asn)
|
|
|
NM_004364.5(CEBPA):c.271G>C (p.Ala91Pro)
|
|
|
NM_004364.5(CEBPA):c.276_277delinsTT (p.Lys92_Ala93delinsAsnSer)
|
|
|
NM_004364.5(CEBPA):c.277_278delinsAA (p.Ala93Lys)
|
rs878854701
|
|
NM_004364.5(CEBPA):c.278C>A (p.Ala93Glu)
|
rs1967191835
|
|
NM_004364.5(CEBPA):c.278C>G (p.Ala93Gly)
|
rs1967191835
|
|
NM_004364.5(CEBPA):c.278C>T (p.Ala93Val)
|
|
|
NM_004364.5(CEBPA):c.283G>A (p.Val95Met)
|
rs1356845856
|
|
NM_004364.5(CEBPA):c.283G>T (p.Val95Leu)
|
rs1356845856
|
|
NM_004364.5(CEBPA):c.284T>G (p.Val95Gly)
|
rs2145263298
|
|
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser)
|
rs1199712903
|
|
NM_004364.5(CEBPA):c.28G>A (p.Glu10Lys)
|
rs1555742327
|
|
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu)
|
rs1967191484
|
|
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg)
|
rs1490895935
|
|
NM_004364.5(CEBPA):c.293C>T (p.Thr98Met)
|
rs1490895935
|
|
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup)
|
rs1967191265
|
|
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser)
|
rs1967191321
|
|
NM_004364.5(CEBPA):c.296GCG[3] (p.Gly102_Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.299G>A (p.Gly100Asp)
|
|
|
NM_004364.5(CEBPA):c.300C>A (p.Gly100=)
|
|
|
NM_004364.5(CEBPA):c.301G>A (p.Gly101Ser)
|
|
|
NM_004364.5(CEBPA):c.301G>T (p.Gly101Cys)
|
rs1600023637
|
|
NM_004364.5(CEBPA):c.304G>C (p.Gly102Arg)
|
rs1455462308
|
|
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala)
|
rs1358539228
|
|
NM_004364.5(CEBPA):c.307G>C (p.Gly103Arg)
|
|
|
NM_004364.5(CEBPA):c.308G>A (p.Gly103Asp)
|
rs2145263144
|
|
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser)
|
rs1216191482
|
|
NM_004364.5(CEBPA):c.310_315dup (p.Gly104_Asp105dup)
|
rs1420856782
|
|
NM_004364.5(CEBPA):c.313_315dup (p.Asp105dup)
|
rs1568420047
|
|
NM_004364.5(CEBPA):c.316T>G (p.Phe106Val)
|
|
|
NM_004364.5(CEBPA):c.318T>G (p.Phe106Leu)
|
rs1555742225
|
|
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr)
|
rs1555742325
|
|
NM_004364.5(CEBPA):c.31C>T (p.Pro11Ser)
|
rs1555742325
|
|
NM_004364.5(CEBPA):c.320A>G (p.Asp107Gly)
|
|
|
NM_004364.5(CEBPA):c.32C>A (p.Pro11Gln)
|
|
|
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg)
|
rs1967204111
|
|
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu)
|
rs1967204111
|
|
NM_004364.5(CEBPA):c.335C>T (p.Pro112Leu)
|
rs2145262888
|
|
NM_004364.5(CEBPA):c.343C>T (p.Pro115Ser)
|
rs2145262821
|
|
NM_004364.5(CEBPA):c.344C>T (p.Pro115Leu)
|
|
|
NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser)
|
|
|
NM_004364.5(CEBPA):c.353C>T (p.Ala118Val)
|
rs2145262747
|
|
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile)
|
rs902740061
|
|
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu)
|
rs902740061
|
|
NM_004364.5(CEBPA):c.355_357dup (p.Val119dup)
|
rs2145262720
|
|
NM_004364.5(CEBPA):c.358A>G (p.Met120Val)
|
rs1555742209
|
|
NM_004364.5(CEBPA):c.361C>A (p.Pro121Thr)
|
|
|
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala)
|
rs1967187823
|
|
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser)
|
rs1967187823
|
|
NM_004364.5(CEBPA):c.362C>A (p.Pro121His)
|
rs1967187752
|
|
NM_004364.5(CEBPA):c.362C>T (p.Pro121Leu)
|
|
|
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg)
|
rs1013724730
|
|
NM_004364.5(CEBPA):c.365G>C (p.Gly122Ala)
|
rs1311096326
|
|
NM_004364.5(CEBPA):c.368G>T (p.Gly123Val)
|
rs1600023321
|
|
NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu)
|
|
|
NM_004364.5(CEBPA):c.371C>T (p.Ala124Val)
|
|
|
NM_004364.5(CEBPA):c.375C>A (p.His125Gln)
|
|
|
NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg)
|
|
|
NM_004364.5(CEBPA):c.377G>C (p.Gly126Ala)
|
rs2145262546
|
|
NM_004364.5(CEBPA):c.379C>T (p.Pro127Ser)
|
rs1055210725
|
|
NM_004364.5(CEBPA):c.37C>A (p.Pro13Thr)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.37C>G (p.Pro13Ala)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.380C>A (p.Pro127His)
|
|
|
NM_004364.5(CEBPA):c.383C>G (p.Pro128Arg)
|
rs878854702
|
|
NM_004364.5(CEBPA):c.383C>T (p.Pro128Leu)
|
rs878854702
|
|
NM_004364.5(CEBPA):c.386C>A (p.Pro129His)
|
rs1600023223
|
|
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys)
|
rs919904139
|
|
NM_004364.5(CEBPA):c.389G>A (p.Gly130Asp)
|
|
|
NM_004364.5(CEBPA):c.389G>T (p.Gly130Val)
|
|
|
NM_004364.5(CEBPA):c.38C>G (p.Pro13Arg)
|
rs2145264956
|
|
NM_004364.5(CEBPA):c.394G>A (p.Gly132Ser)
|
|
|
NM_004364.5(CEBPA):c.394G>C (p.Gly132Arg)
|
rs1038352346
|
|
NM_004364.5(CEBPA):c.394G>T (p.Gly132Cys)
|
|
|
NM_004364.5(CEBPA):c.394_414dup (p.Gly132_Tyr138dup)
|
rs2145262280
|
|
NM_004364.5(CEBPA):c.395G>A (p.Gly132Asp)
|
|
|
NM_004364.5(CEBPA):c.398G>A (p.Cys133Tyr)
|
|
|
NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro)
|
|
|
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr)
|
rs1172993204
|
|
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser)
|
rs1172993204
|
|
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly)
|
rs1967185191
|
|
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro)
|
rs2145262262
|
|
NM_004364.5(CEBPA):c.416T>G (p.Leu139Arg)
|
rs2145262262
|
|
NM_004364.5(CEBPA):c.41C>A (p.Pro14Gln)
|
rs1007915253
|
|
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg)
|
rs1007915253
|
|
NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu)
|
|
|
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser)
|
rs1408671093
|
|
NM_004364.5(CEBPA):c.423C>T (p.Gly141=)
|
|
|
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys)
|
rs1967184663
|
|
NM_004364.5(CEBPA):c.430G>A (p.Glu144Lys)
|
|
|
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly)
|
rs1967184550
|
|
NM_004364.5(CEBPA):c.432G>C (p.Glu144Asp)
|
rs1555742184
|
|
NM_004364.5(CEBPA):c.432G>T (p.Glu144Asp)
|
rs1555742184
|
|
NM_004364.5(CEBPA):c.434C>T (p.Pro145Leu)
|
rs2145262134
|
|
NM_004364.5(CEBPA):c.435C>A (p.Pro145=)
|
|
|
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro)
|
rs1481195051
|
|
NM_004364.5(CEBPA):c.439T>C (p.Tyr147His)
|
|
|
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu)
|
rs1967203329
|
|
NM_004364.5(CEBPA):c.43A>G (p.Met15Val)
|
rs1967203329
|
|
NM_004364.5(CEBPA):c.442G>A (p.Glu148Lys)
|
rs1388478228
|
|
NM_004364.5(CEBPA):c.445C>T (p.Arg149Cys)
|
rs2145262063
|
|
NM_004364.5(CEBPA):c.446G>A (p.Arg149His)
|
|
|
NM_004364.5(CEBPA):c.448G>T (p.Val150Phe)
|
rs1600023056
|
|
NM_004364.5(CEBPA):c.449T>A (p.Val150Asp)
|
rs2145262045
|
|
NM_004364.5(CEBPA):c.44T>A (p.Met15Lys)
|
|
|
NM_004364.5(CEBPA):c.44T>C (p.Met15Thr)
|
rs1600024585
|
|
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp)
|
rs1967182998
|
|
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.451G>C (p.Gly151Arg)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.452G>A (p.Gly151Glu)
|
rs2145262013
|
|
NM_004364.5(CEBPA):c.455C>A (p.Ala152Glu)
|
rs1967183790
|
|
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val)
|
rs1967183790
|
|
NM_004364.5(CEBPA):c.457C>T (p.Pro153Ser)
|
rs2145261985
|
|
NM_004364.5(CEBPA):c.458C>A (p.Pro153Gln)
|
rs1967183728
|
|
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg)
|
rs1967183728
|
|
NM_004364.5(CEBPA):c.461C>T (p.Ala154Val)
|
|
|
NM_004364.5(CEBPA):c.46AGC[1] (p.Ser17del)
|
|
|
NM_004364.5(CEBPA):c.472C>A (p.Leu158Met)
|
|
|
NM_004364.5(CEBPA):c.475G>A (p.Val159Met)
|
|
|
NM_004364.5(CEBPA):c.475G>T (p.Val159Leu)
|
rs2145261853
|
|
NM_004364.5(CEBPA):c.478A>G (p.Ile160Val)
|
|
|
NM_004364.5(CEBPA):c.487G>A (p.Glu163Lys)
|
rs1347514128
|
|
NM_004364.5(CEBPA):c.487G>C (p.Glu163Gln)
|
|
|
NM_004364.5(CEBPA):c.489G>A (p.Glu163=)
|
|
|
NM_004364.5(CEBPA):c.489G>T (p.Glu163Asp)
|
|
|
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser)
|
rs1967182334
|
|
NM_004364.5(CEBPA):c.494G>A (p.Arg165His)
|
rs1481086547
|
|
NM_004364.5(CEBPA):c.49A>G (p.Ser17Gly)
|
rs2145264889
|
|
NM_004364.5(CEBPA):c.502G>A (p.Asp168Asn)
|
|
|
NM_004364.5(CEBPA):c.503A>T (p.Asp168Val)
|
rs2145261721
|
|
NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr)
|
|
|
NM_004364.5(CEBPA):c.512A>C (p.Lys171Thr)
|
|
|
NM_004364.5(CEBPA):c.518T>C (p.Leu173Pro)
|
|
|
NM_004364.5(CEBPA):c.518T>G (p.Leu173Arg)
|
|
|
NM_004364.5(CEBPA):c.527C>G (p.Ala176Gly)
|
rs957167825
|
|
NM_004364.5(CEBPA):c.529G>A (p.Gly177Ser)
|
|
|
NM_004364.5(CEBPA):c.52C>T (p.His18Tyr)
|
rs1600024559
|
|
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp)
|
rs1967181220
|
|
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe)
|
rs1325138029
|
|
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro)
|
rs1967180974
|
|
NM_004364.5(CEBPA):c.543C>G (p.Tyr181Ter)
|
|
|
NM_004364.5(CEBPA):c.544C>A (p.Gln182Lys)
|
rs1600022835
|
|
NM_004364.5(CEBPA):c.545A>C (p.Gln182Pro)
|
rs1555742145
|
|
NM_004364.5(CEBPA):c.545A>G (p.Gln182Arg)
|
|
|
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu)
|
rs1555742145
|
|
NM_004364.5(CEBPA):c.546G>C (p.Gln182His)
|
rs2145261525
|
|
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[4] (p.Pro187_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[5] (p.Pro188_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[9] (p.Pro188_Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.548C>G (p.Pro183Arg)
|
rs1222448862
|
|
NM_004364.5(CEBPA):c.54C>G (p.His18Gln)
|
rs1600024552
|
|
NM_004364.5(CEBPA):c.551C>T (p.Pro184Leu)
|
|
|
NM_004364.5(CEBPA):c.554C>T (p.Pro185Leu)
|
rs2145261468
|
|
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser)
|
rs1303742006
|
|
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu)
|
rs1367523224
|
|
NM_004364.5(CEBPA):c.558_561del (p.Pro187fs)
|
rs1427211628
|
|
NM_004364.5(CEBPA):c.558_568delinsCTCGCACC (p.Pro187_Ser190delinsSerHisPro)
|
rs1568419793
|
|
NM_004364.5(CEBPA):c.560C>A (p.Pro187Gln)
|
rs1600022732
|
|
NM_004364.5(CEBPA):c.562C>T (p.Pro188Ser)
|
rs2145261406
|
|
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln)
|
rs1568419813
|
|
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Pro189_Ser190insProSerHis)
|
rs1967178862
|
|
NM_004364.5(CEBPA):c.566_567insGCCGCCGCCCTCGCA (p.Pro189_Ser190insProProProSerHis)
|
rs1967178862
|
|
NM_004364.5(CEBPA):c.568_594del (p.Ser190_Pro198del)
|
|
|
NM_004364.5(CEBPA):c.569C>G (p.Ser190Trp)
|
rs1555742114
|
|
NM_004364.5(CEBPA):c.569_570insCCACCC (p.191HP[4])
|
rs2145261294
|
|
NM_004364.5(CEBPA):c.56T>G (p.Leu19Arg)
|
|
|
NM_004364.5(CEBPA):c.572A>T (p.His191Leu)
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[1] (p.191HP[1])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg)
|
rs1247330890
|
|
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro)
|
rs1555742103
|
|
NM_004364.5(CEBPA):c.577C>T (p.His193Tyr)
|
|
|
NM_004364.5(CEBPA):c.579_580insACGCAC (p.His193_Pro194insThrHis)
|
|
|
NM_004364.5(CEBPA):c.580C>A (p.Pro194Thr)
|
|
|
NM_004364.5(CEBPA):c.580C>G (p.Pro194Ala)
|
rs1967177805
|
|
NM_004364.5(CEBPA):c.581C>A (p.Pro194Gln)
|
|
|
NM_004364.5(CEBPA):c.581C>G (p.Pro194Arg)
|
rs1487598012
|
|
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr)
|
rs1213752306
|
|
NM_004364.5(CEBPA):c.584A>C (p.His195Pro)
|
|
|
NM_004364.5(CEBPA):c.585C>G (p.His195Gln)
|
rs2145261171
|
|
NM_004364.5(CEBPA):c.588G>C (p.Pro196=)
|
|
|
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu)
|
rs1568419745
|
|
NM_004364.5(CEBPA):c.592C>A (p.Pro198Thr)
|
rs2145261086
|
|
NM_004364.5(CEBPA):c.592C>T (p.Pro198Ser)
|
rs2145261086
|
|
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr)
|
rs1308416905
|
|
NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu)
|
rs1060502118
|
|
NM_004364.5(CEBPA):c.598C>G (p.His200Asp)
|
rs2145261016
|
|
NM_004364.5(CEBPA):c.600C>G (p.His200Gln)
|
|
|
NM_004364.5(CEBPA):c.605C>T (p.Ala202Val)
|
rs1316179719
|
|
NM_004364.5(CEBPA):c.606C>T (p.Ala202=)
|
|
|
NM_004364.5(CEBPA):c.607_608delinsTT (p.Ala203Phe)
|
|
|
NM_004364.5(CEBPA):c.60G>C (p.Gln20His)
|
rs1060502123
|
|
NM_004364.5(CEBPA):c.610C>G (p.Pro204Ala)
|
rs1600022363
|
|
NM_004364.5(CEBPA):c.611C>G (p.Pro204Arg)
|
|
|
NM_004364.5(CEBPA):c.611C>T (p.Pro204Leu)
|
|
|
NM_004364.5(CEBPA):c.614A>G (p.His205Arg)
|
rs1568419698
|
|
NM_004364.5(CEBPA):c.616C>A (p.Leu206Met)
|
|
|
NM_004364.5(CEBPA):c.622T>G (p.Phe208Val)
|
|
|
NM_004364.5(CEBPA):c.624C>A (p.Phe208Leu)
|
rs2145260930
|
|
NM_004364.5(CEBPA):c.62G>A (p.Ser21Asn)
|
|
|
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile)
|
rs890855027
|
|
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.631G>C (p.Ala211Pro)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.631G>T (p.Ala211Ser)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.634C>G (p.His212Asp)
|
rs1433126196
|
|
NM_004364.5(CEBPA):c.634C>T (p.His212Tyr)
|
rs1433126196
|
|
NM_004364.5(CEBPA):c.635A>C (p.His212Pro)
|
|
|
NM_004364.5(CEBPA):c.635A>G (p.His212Arg)
|
rs1967174956
|
|
NM_004364.5(CEBPA):c.639C>A (p.Cys213Ter)
|
rs1967174687
|
|
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg)
|
rs867113214
|
|
NM_004364.5(CEBPA):c.63C>G (p.Ser21Arg)
|
|
|
NM_004364.5(CEBPA):c.640G>A (p.Gly214Ser)
|
|
|
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val)
|
rs1967174628
|
|
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala)
|
rs1600022240
|
|
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala)
|
rs1967174429
|
|
NM_004364.5(CEBPA):c.64C>A (p.Pro22Thr)
|
rs770636941
|
|
NM_004364.5(CEBPA):c.652A>C (p.Met218Leu)
|
|
|
NM_004364.5(CEBPA):c.653T>C (p.Met218Thr)
|
|
|
NM_004364.5(CEBPA):c.654G>A (p.Met218Ile)
|
|
|
NM_004364.5(CEBPA):c.654G>T (p.Met218Ile)
|
rs1555742071
|
|
NM_004364.5(CEBPA):c.655C>A (p.His219Asn)
|
rs1568419664
|
|
NM_004364.5(CEBPA):c.662A>T (p.Gln221Leu)
|
rs2145260807
|
|
NM_004364.5(CEBPA):c.664C>T (p.Pro222Ser)
|
rs1568419654
|
|
NM_004364.5(CEBPA):c.665C>T (p.Pro222Leu)
|
|
|
NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp)
|
rs2145260788
|
|
NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala)
|
|
|
NM_004364.5(CEBPA):c.672C>G (p.His224Gln)
|
|
|
NM_004364.5(CEBPA):c.674C>T (p.Pro225Leu)
|
rs1241253530
|
|
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr)
|
rs1478319097
|
|
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser)
|
rs1478319097
|
|
NM_004364.5(CEBPA):c.680C>T (p.Pro227Leu)
|
|
|
NM_004364.5(CEBPA):c.686C>G (p.Pro229Arg)
|
|
|
NM_004364.5(CEBPA):c.68C>A (p.Pro23Gln)
|
rs1308550194
|
|
NM_004364.5(CEBPA):c.68C>G (p.Pro23Arg)
|
|
|
NM_004364.5(CEBPA):c.695T>C (p.Val232Ala)
|
rs1600022098
|
|
NM_004364.5(CEBPA):c.697C>G (p.Pro233Ala)
|
|
|
NM_004364.5(CEBPA):c.697C>T (p.Pro233Ser)
|
|
|
NM_004364.5(CEBPA):c.698C>A (p.Pro233His)
|
rs1352573347
|
|
NM_004364.5(CEBPA):c.698C>G (p.Pro233Arg)
|
|
|
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp)
|
rs2145265146
|
|
NM_004364.5(CEBPA):c.700A>G (p.Ser234Gly)
|
|
|
NM_004364.5(CEBPA):c.704C>G (p.Pro235Arg)
|
|
|
NM_004364.5(CEBPA):c.706C>A (p.His236Asn)
|
|
|
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser)
|
rs921077083
|
|
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg)
|
rs1967172281
|
|
NM_004364.5(CEBPA):c.710C>T (p.Pro237Leu)
|
rs1967172281
|
|
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3])
|
rs1967171960
|
|
NM_004364.5(CEBPA):c.713C>A (p.Ala238Glu)
|
rs3745972
|
|
NM_004364.5(CEBPA):c.713C>G (p.Ala238Gly)
|
|
|
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val)
|
rs3745972
|
|
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu)
|
rs2145260550
|
|
NM_004364.5(CEBPA):c.718G>A (p.Ala240Thr)
|
|
|
NM_004364.5(CEBPA):c.719C>T (p.Ala240Val)
|
|
|
NM_004364.5(CEBPA):c.719_724dup (p.Ala240_Leu241dup)
|
rs2145260517
|
|
NM_004364.5(CEBPA):c.722T>C (p.Leu241Pro)
|
rs2145260532
|
|
NM_004364.5(CEBPA):c.724G>C (p.Gly242Arg)
|
|
|
NM_004364.5(CEBPA):c.727G>A (p.Ala243Thr)
|
rs2145260494
|
|
NM_004364.5(CEBPA):c.72C>A (p.His24Gln)
|
rs1555742309
|
|
NM_004364.5(CEBPA):c.72C>G (p.His24Gln)
|
rs1555742309
|
|
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr)
|
rs957444896
|
|
NM_004364.5(CEBPA):c.733G>C (p.Gly245Arg)
|
|
|
NM_004364.5(CEBPA):c.734G>A (p.Gly245Asp)
|
|
|
NM_004364.5(CEBPA):c.73G>C (p.Ala25Pro)
|
rs1600024440
|
|
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp)
|
rs1967171226
|
|
NM_004364.5(CEBPA):c.743G>T (p.Gly248Val)
|
|
|
NM_004364.5(CEBPA):c.748G>A (p.Gly250Ser)
|
rs1555742056
|
|
NM_004364.5(CEBPA):c.74C>T (p.Ala25Val)
|
rs2145264688
|
|
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly)
|
rs1382832060
|
|
NM_004364.5(CEBPA):c.751A>T (p.Ser251Cys)
|
|
|
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr)
|
rs1967170735
|
|
NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe)
|
rs2145260308
|
|
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg)
|
rs1967170243
|
|
NM_004364.5(CEBPA):c.764G>A (p.Gly255Glu)
|
rs2145260264
|
|
NM_004364.5(CEBPA):c.768G>T (p.Leu256=)
|
|
|
NM_004364.5(CEBPA):c.775G>A (p.Ala259Thr)
|
|
|
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly)
|
rs746895795
|
|
NM_004364.5(CEBPA):c.778C>A (p.His260Asn)
|
|
|
NM_004364.5(CEBPA):c.778C>T (p.His260Tyr)
|
|
|
NM_004364.5(CEBPA):c.77C>G (p.Pro26Arg)
|
|
|
NM_004364.5(CEBPA):c.780C>A (p.His260Gln)
|
rs1429055509
|
|
NM_004364.5(CEBPA):c.782C>G (p.Pro261Arg)
|
rs1184283480
|
|
NM_004364.5(CEBPA):c.786C>A (p.Asp262Glu)
|
rs747881336
|
|
NM_004364.5(CEBPA):c.788T>G (p.Leu263Arg)
|
|
|
NM_004364.5(CEBPA):c.791G>A (p.Arg264His)
|
|
|
NM_004364.5(CEBPA):c.793_794delinsAT (p.Ala265Met)
|
rs1555742019
|
|
NM_004364.5(CEBPA):c.797del (p.Ser266fs)
|
rs2145260029
|
|
NM_004364.5(CEBPA):c.799G>A (p.Gly267Ser)
|
|
|
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly)
|
rs1967201448
|
|
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser)
|
rs1568419433
|
|
NM_004364.5(CEBPA):c.802G>T (p.Gly268Cys)
|
rs1568419433
|
|
NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser)
|
|
|
NM_004364.5(CEBPA):c.80G>C (p.Ser27Thr)
|
rs2145264644
|
|
NM_004364.5(CEBPA):c.811G>A (p.Ala271Thr)
|
rs756632245
|
|
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser)
|
rs756632245
|
|
NM_004364.5(CEBPA):c.811_812delinsTT (p.Ala271Leu)
|
rs2145259941
|
|
NM_004364.5(CEBPA):c.812C>G (p.Ala271Gly)
|
rs1403352822
|
|
NM_004364.5(CEBPA):c.812C>T (p.Ala271Val)
|
|
|
NM_004364.5(CEBPA):c.815G>A (p.Gly272Asp)
|
|
|
NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala)
|
|
|
NM_004364.5(CEBPA):c.815G>T (p.Gly272Val)
|
rs1162467731
|
|
NM_004364.5(CEBPA):c.816C>T (p.Gly272=)
|
|
|
NM_004364.5(CEBPA):c.817A>G (p.Lys273Glu)
|
|
|
NM_004364.5(CEBPA):c.81C>G (p.Ser27Arg)
|
rs111662895
|
|
NM_004364.5(CEBPA):c.821C>T (p.Ala274Val)
|
rs767673311
|
|
NM_004364.5(CEBPA):c.824A>C (p.Lys275Thr)
|
|
|
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg)
|
rs757273086
|
|
NM_004364.5(CEBPA):c.827A>C (p.Lys276Thr)
|
|
|
NM_004364.5(CEBPA):c.830C>A (p.Ser277Ter)
|
rs1269133775
|
|
NM_004364.5(CEBPA):c.835G>T (p.Asp279Tyr)
|
rs1967166324
|
|
NM_004364.5(CEBPA):c.836A>G (p.Asp279Gly)
|
rs1568419375
|
|
NM_004364.5(CEBPA):c.83G>A (p.Ser28Asn)
|
rs2145264621
|
|
NM_004364.5(CEBPA):c.841A>G (p.Asn281Asp)
|
|
|
NM_004364.5(CEBPA):c.844A>C (p.Ser282Arg)
|
|
|
NM_004364.5(CEBPA):c.844A>G (p.Ser282Gly)
|
|
|
NM_004364.5(CEBPA):c.847A>C (p.Asn283His)
|
|
|
NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys)
|
|
|
NM_004364.5(CEBPA):c.850G>A (p.Glu284Lys)
|
rs1002344182
|
|
NM_004364.5(CEBPA):c.852G>T (p.Glu284Asp)
|
rs376856647
|
|
NM_004364.5(CEBPA):c.859G>C (p.Val287Leu)
|
rs2145259628
|
|
NM_004364.5(CEBPA):c.85G>T (p.Ala29Ser)
|
rs2145264604
|
|
NM_004364.5(CEBPA):c.862C>T (p.Arg288Trp)
|
rs971619935
|
|
NM_004364.5(CEBPA):c.863G>C (p.Arg288Pro)
|
rs1064794962
|
|
NM_004364.5(CEBPA):c.866G>T (p.Arg289Leu)
|
|
|
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter)
|
rs1967164835
|
|
NM_004364.5(CEBPA):c.872G>A (p.Arg291His)
|
rs1967164761
|
|
NM_004364.5(CEBPA):c.875A>G (p.Asn292Ser)
|
rs776590829
|
|
NM_004364.5(CEBPA):c.875ACA[1] (p.Asn293del)
|
|
|
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met)
|
rs376093748
|
|
NM_004364.5(CEBPA):c.88G>T (p.Ala30Ser)
|
rs1555742305
|
|
NM_004364.5(CEBPA):c.890G>T (p.Arg297Leu)
|
rs1600021258
|
|
NM_004364.5(CEBPA):c.891dup (p.Lys298fs)
|
|
|
NM_004364.5(CEBPA):c.898_913dup (p.Gln305fs)
|
rs1600021166
|
|
NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu)
|
|
|
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn)
|
rs1967163668
|
|
NM_004364.5(CEBPA):c.906G>A (p.Lys302=)
|
|
|
NM_004364.5(CEBPA):c.907G>A (p.Ala303Thr)
|
rs867994533
|
|
NM_004364.5(CEBPA):c.913C>G (p.Gln305Glu)
|
rs747606716
|
|
NM_004364.5(CEBPA):c.913C>T (p.Gln305Ter)
|
|
|
NM_004364.5(CEBPA):c.914A>G (p.Gln305Arg)
|
rs1479225242
|
|
NM_004364.5(CEBPA):c.916C>A (p.Arg306Ser)
|
|
|
NM_004364.5(CEBPA):c.918C>G (p.Arg306=)
|
|
|
NM_004364.5(CEBPA):c.922G>A (p.Val308Met)
|
rs1182945213
|
|
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu)
|
rs1182945213
|
|
NM_004364.5(CEBPA):c.925G>C (p.Glu309Gln)
|
|
|
NM_004364.5(CEBPA):c.925G>T (p.Glu309Ter)
|
|
|
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala)
|
rs1568419235
|
|
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)
|
rs1967162539
|
|
NM_004364.5(CEBPA):c.932A>T (p.Gln311Leu)
|
rs2145258913
|
|
NM_004364.5(CEBPA):c.934C>T (p.Gln312Ter)
|
|
|
NM_004364.5(CEBPA):c.93C>G (p.Phe31Leu)
|
|
|
NM_004364.5(CEBPA):c.943C>T (p.Leu315=)
|
|
|
NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln)
|
|
|
NM_004364.5(CEBPA):c.94G>A (p.Gly32Ser)
|
rs1348778034
|
|
NM_004364.5(CEBPA):c.952A>C (p.Thr318Pro)
|
rs2145258767
|
|
NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg)
|
rs1555741962
|
|
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly)
|
rs1555741962
|
|
NM_004364.5(CEBPA):c.964G>A (p.Asp322Asn)
|
rs2145258655
|
|
NM_004364.5(CEBPA):c.964_965delinsAT (p.Asp322Ile)
|
rs2145258643
|
|
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu)
|
rs903305652
|
|
NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys)
|
|
|
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu)
|
rs1421674520
|
|
NM_004364.5(CEBPA):c.96C>A (p.Gly32=)
|
|
|
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser)
|
rs781549846
|
|
NM_004364.5(CEBPA):c.982G>A (p.Val328Met)
|
|
|
NM_004364.5(CEBPA):c.982_985del (p.Val328fs)
|
rs1967160131
|
|
NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys)
|
rs1568419162
|
|
NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro)
|
rs1555741952
|
|
NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys)
|
|
|
NM_004364.5(CEBPA):c.99T>C (p.Phe33=)
|
|
|
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
|
|
|
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
|
|
|
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
|
|
|
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
|
|
|
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
|
|
|
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
|
|
|
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
|
|
|
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
|
|
|
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
|
|
|
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
|
|
|
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
|
|
|
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
|
|
|
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
|
|
|
NM_005373.3(MPL):c.1468+7C>T
|
|
|
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys)
|
rs121913613
|
|
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
|
|
|
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys)
|
rs1647078220
|
|
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)
|
|
|
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)
|
|
|
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)
|
|
|
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
|
|
|
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
|
|
|
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
|
|
|
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
|
|
|
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
|
|
|
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
|
|
|
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
|
|
|
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
|
|
|
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
|
|
|
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
|
|
|
NM_005373.3(MPL):c.1744C>G (p.Leu582Val)
|
rs2153920065
|
|
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
|
|
|
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
|
|
|
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
|
|
|
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
|
|
|
NM_005373.3(MPL):c.224G>A (p.Arg75His)
|
|
|
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
|
|
|
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
|
|
|
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
|
|
|
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
|
|
|
NM_005373.3(MPL):c.417C>T (p.Ile139=)
|
|
|
NM_005373.3(MPL):c.445G>A (p.Glu149Lys)
|
rs267598615
|
|
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
|
|
|
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
|
|
|
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
|
|
|
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
|
|
|
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
|
|
|
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
|
|
|
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
|
|
|
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
|
|
|
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
|
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NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
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NM_005373.3(MPL):c.844G>A (p.Gly282Arg)
|
rs878854770
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NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
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NM_005373.3(MPL):c.923A>T (p.His308Leu)
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NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
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NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
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NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
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NM_005373.3(MPL):c.981-8G>A
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NM_005373.3(MPL):c.988A>T (p.Ile330Phe)
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rs1647056598
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NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
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NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
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NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg)
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rs141035971
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NM_207122.2(EXT2):c.1032T>G (p.Ile344Met)
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rs1954415349
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NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
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NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
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NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe)
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rs747302075
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NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
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NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly)
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rs2135020999
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NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
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NM_207122.2(EXT2):c.1117G>A (p.Val373Met)
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rs750547674
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NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg)
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rs1590575253
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NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
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NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)
|
rs1203844985
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NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
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NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
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NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr)
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rs2135127641
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NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
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NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
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NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
|
rs1279920600
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NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
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NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
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NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
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NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
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rs753542290
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NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
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NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
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NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys)
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rs775111831
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NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
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NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
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NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
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NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
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NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
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NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
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NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
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NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
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NM_207122.2(EXT2):c.1458T>A (p.Leu486=)
|
rs1343630556
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NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
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NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg)
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rs2135185580
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NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
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NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
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NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)
|
rs1314735230
|
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NM_207122.2(EXT2):c.1565G>A (p.Arg522His)
|
rs1271452312
|
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NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
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NM_207122.2(EXT2):c.1601T>A (p.Val534Asp)
|
rs1955590072
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NM_207122.2(EXT2):c.1662+4A>C
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NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
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NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp)
|
rs768532662
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NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
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NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
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NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
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NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
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NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
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NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys)
|
rs1564986609
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NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
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NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
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NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
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NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
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NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
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NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
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NM_207122.2(EXT2):c.1802A>G (p.His601Arg)
|
rs1590666587
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NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro)
|
rs2135259942
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NM_207122.2(EXT2):c.1806+5G>C
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NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
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NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
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NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg)
|
rs2135263090
|
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NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
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NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp)
|
rs1334534184
|
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NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
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|
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
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NM_207122.2(EXT2):c.1935+3A>C
|
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NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
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NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
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NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
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NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
|
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NM_207122.2(EXT2):c.2019-2A>G
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NM_207122.2(EXT2):c.2019-2del
|
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NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del)
|
rs753223281
|
|
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu)
|
rs1956070950
|
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NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala)
|
rs1389539812
|
|
NM_207122.2(EXT2):c.205G>A (p.Val69Ile)
|
rs200809171
|
|
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
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NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
|
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|
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
|
|
|
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly)
|
rs769426160
|
|
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
|
|
|
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
|
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NM_207122.2(EXT2):c.226C>A (p.Pro76Thr)
|
rs999897934
|
|
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
|
|
|
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
|
|
|
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln)
|
rs763536229
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207122.2(EXT2):c.261G>A (p.Met87Ile)
|
rs758194845
|
|
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
|
|
|
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
|
|
|
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
|
|
|
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu)
|
rs907886635
|
|
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr)
|
rs1321100355
|
|
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser)
|
rs886048274
|
|
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
|
|
|
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
|
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|
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
|
|
|
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser)
|
rs2134967559
|
|
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
|
rs1389288265
|
|
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)
|
rs1954086080
|
|
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
|
|
|
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
|
|
|
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
|
|
|
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
|
|
|
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
|
|
|
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
|
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NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
|
|
|
NM_207122.2(EXT2):c.471C>A (p.Ile157=)
|
rs747429885
|
|
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
|
|
|
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly)
|
rs1954089321
|
|
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
|
|
|
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
|
rs1954089713
|
|
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
|
|
|
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
|
|
|
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
|
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|
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
|
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NM_207122.2(EXT2):c.537G>A (p.Arg179=)
|
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|
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
|
rs563383543
|
|
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del)
|
rs761364688
|
|
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del)
|
rs1954106603
|
|
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
|
|
|
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
|
|
|
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser)
|
rs1954107822
|
|
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu)
|
rs2134965342
|
|
NM_207122.2(EXT2):c.626+6A>T
|
|
|
NM_207122.2(EXT2):c.626+6_626+8del
|
|
|
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
|
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|
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
|
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|
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
|
|
|
NM_207122.2(EXT2):c.65A>G (p.His22Arg)
|
rs1954077075
|
|
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
|
|
|
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
|
|
|
NM_207122.2(EXT2):c.69A>T (p.Arg23=)
|
rs2134965405
|
|
NM_207122.2(EXT2):c.720G>A (p.Val240=)
|
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|
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
|
|
|
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
|
|
|
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln)
|
rs372237191
|
|
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg)
|
rs372237191
|
|
NM_207122.2(EXT2):c.744-16T>G
|
|
|
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
|
|
|
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
|
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|
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
|
|
|
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg)
|
rs2135014787
|
|
NM_207122.2(EXT2):c.779G>T (p.Gly260Val)
|
rs201895861
|
|
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
|
|
|
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
|
|
|
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
|
|
|
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
|
|
|
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
|
|
|
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
|
|
|
NM_207122.2(EXT2):c.886G>C (p.Val296Leu)
|
rs1954377301
|
|
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
|
|
|
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
|
|
|
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
|
|
|
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
|
|
|
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly)
|
rs1260423517
|
|
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
|
|
|
NM_207122.2(EXT2):c.931G>A (p.Val311Met)
|
rs1449762239
|
|
NM_207122.2(EXT2):c.933G>A (p.Val311=)
|
|
|
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
|
|
|
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
|
|
|
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
|
|
|
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
|
|
|
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
|
|
|
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)
|
|
|