ClinVar Miner

List of variants reported as uncertain significance for connective tissue neoplasm by Invitae

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1147
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HGVS dbSNP gnomAD frequency
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)
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
NM_005373.3(MPL):c.923A>T (p.His308Leu)
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
NM_005373.3(MPL):c.981-8G>A
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg) rs141035971
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met) rs1954415349
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe) rs747302075
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly) rs2135020999
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) rs750547674
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg) rs1590575253
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu) rs1203844985
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) rs2135127641
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) rs775111831
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) rs2135185580
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1565G>A (p.Arg522His) rs1271452312
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) rs1955590072
NM_207122.2(EXT2):c.1662+4A>C
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) rs1564986609
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
NM_207122.2(EXT2):c.1802A>G (p.His601Arg) rs1590666587
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro) rs2135259942
NM_207122.2(EXT2):c.1806+5G>C
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg) rs2135263090
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp) rs1334534184
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
NM_207122.2(EXT2):c.1935+3A>C
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.2019-2A>G
NM_207122.2(EXT2):c.2019-2del
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) rs753223281
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu) rs1956070950
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)
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
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)
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)
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)
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)
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
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)
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
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=)
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)
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)

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