ClinVar Miner

List of variants studied for bone neoplasm by Invitae

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2829
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_207122.2(EXT2):c.1807-51T>C rs11037909 0.25427
NM_207122.2(EXT2):c.1936-41T>C rs3740878 0.23855
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000127.3(EXT1):c.1431C>T (p.Pro477=) rs17439693 0.17547
NM_004364.5(CEBPA):c.690G>T (p.Thr230=) rs34529039 0.16355
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_004364.5(CEBPA):c.573C>T (p.His191=) rs192240793 0.02004
NM_000127.3(EXT1):c.114A>G (p.Glu38=) rs17506447 0.01623
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_207122.2(EXT2):c.264C>T (p.His88=) rs35455466 0.01345
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NM_207122.2(EXT2):c.999T>C (p.Asp333=) rs61733300 0.01271
NM_207122.2(EXT2):c.1174-18G>T rs143595300 0.01161
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_004364.5(CEBPA):c.693C>G (p.Pro231=) rs550308123 0.00808
NM_004364.5(CEBPA):c.756G>T (p.Ala252=) rs571969199 0.00778
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=) rs141430731 0.00752
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_000127.3(EXT1):c.117A>G (p.Glu39=) rs78429222 0.00558
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile) rs34084767 0.00538
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_207122.2(EXT2):c.*56G>A rs77554103 0.00371
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_004364.5(CEBPA):c.612G>C (p.Pro204=) rs552634598 0.00214
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00183
NM_207122.2(EXT2):c.2019-14T>C rs141747687 0.00173
NM_207122.2(EXT2):c.918C>T (p.Phe306=) rs35436405 0.00139
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_207122.2(EXT2):c.1641C>T (p.Asp547=) rs75987184 0.00088
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_207122.2(EXT2):c.358G>A (p.Val120Ile) rs115948531 0.00070
NM_000127.3(EXT1):c.1359C>T (p.Phe453=) rs148922894 0.00067
NM_000127.3(EXT1):c.741G>A (p.Glu247=) rs148473091 0.00063
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888 0.00058
NM_000127.3(EXT1):c.1779C>T (p.Pro593=) rs143881630 0.00056
NM_005373.3(MPL):c.1488C>T (p.Thr496=) rs140091584 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_004364.5(CEBPA):c.729C>A (p.Ala243=) rs1248693843 0.00053
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_005373.3(MPL):c.1197G>A (p.Arg399=) rs148945299 0.00042
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534 0.00039
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_207122.2(EXT2):c.150C>T (p.Ile50=) rs138982530 0.00035
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_005373.3(MPL):c.1536G>A (p.Leu512=) rs137990502 0.00031
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_207122.2(EXT2):c.1806+11G>A rs372517964 0.00029
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile) rs113846849 0.00029
NM_000127.3(EXT1):c.99C>T (p.Ser33=) rs147654656 0.00028
NM_004364.5(CEBPA):c.789C>T (p.Leu263=) rs552131738 0.00028
NM_207122.2(EXT2):c.1425A>G (p.Glu475=) rs533065326 0.00027
NM_207122.2(EXT2):c.843A>G (p.Leu281=) rs111320923 0.00027
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_207122.2(EXT2):c.939+19C>G rs370017441 0.00025
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505 0.00024
NM_207122.2(EXT2):c.444C>T (p.Asn148=) rs145884580 0.00024
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_207122.2(EXT2):c.1080-16T>G rs377582390 0.00023
NM_004364.5(CEBPA):c.561G>C (p.Pro187=) rs538441046 0.00022
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile) rs567445428 0.00022
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser) rs919904139 0.00021
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 0.00021
NM_207122.2(EXT2):c.2013G>A (p.Val671=) rs371019537 0.00020
NM_207122.2(EXT2):c.896G>A (p.Arg299His) rs76901081 0.00020
NM_000127.3(EXT1):c.1319G>A (p.Arg440His) rs144550328 0.00019
NM_004364.5(CEBPA):c.468G>A (p.Arg156=) rs921129497 0.00018
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile) rs770428240 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_207122.2(EXT2):c.1554G>A (p.Lys518=) rs144238557 0.00018
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu) rs1176457130 0.00016
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile) rs767492816 0.00015
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser) rs770636941 0.00015
NM_004364.5(CEBPA):c.811G>C (p.Ala271Pro) rs756632245 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_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
NM_004364.5(CEBPA):c.558G>A (p.Pro186=) rs1338027134 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) rs921077083 0.00011
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786 0.00011
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg) rs145720047 0.00010
NM_000127.3(EXT1):c.1680C>T (p.Ala560=) rs540101738 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090 0.00009
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn) rs199862937 0.00009
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_000127.3(EXT1):c.963-16C>T rs369462786 0.00009
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr) rs758092761 0.00009
NM_004364.5(CEBPA):c.396C>T (p.Gly132=) rs1060504475 0.00009
NM_004364.5(CEBPA):c.81C>T (p.Ser27=) rs111662895 0.00009
NM_004364.5(CEBPA):c.942G>T (p.Val314=) rs377329266 0.00009
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) rs3820551 0.00009
NM_005373.3(MPL):c.1803C>T (p.Thr601=) rs140794721 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_000127.3(EXT1):c.1457C>T (p.Ala486Val) rs188859975 0.00008
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00008
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) rs146086025 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.744-6T>A rs755926713 0.00008
NM_000127.3(EXT1):c.1161A>G (p.Leu387=) rs200256697 0.00007
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile) rs144397063 0.00007
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile) rs920291906 0.00007
NM_004364.5(CEBPA):c.735C>T (p.Gly245=) rs925688689 0.00007
NM_004364.5(CEBPA):c.918C>A (p.Arg306=) rs773844593 0.00007
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905 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.1659C>T (p.Tyr553=) rs757115396 0.00006
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys) rs150818931 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.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.1542G>A (p.Arg514=) rs367960803 0.00006
NM_005373.3(MPL):c.1573A>C (p.Arg525=) rs143100182 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 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.182G>A (p.Arg61His) rs151228794 0.00006
NM_207122.2(EXT2):c.201G>A (p.Pro67=) rs201374853 0.00006
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg) rs367897723 0.00006
NM_207122.2(EXT2):c.357C>T (p.Gly119=) rs753325648 0.00006
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn) rs200631641 0.00006
NM_000127.3(EXT1):c.1722+9C>T rs371055794 0.00005
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp) rs138855109 0.00005
NM_000127.3(EXT1):c.2178C>T (p.Pro726=) rs557560039 0.00005
NM_000127.3(EXT1):c.543C>T (p.Leu181=) rs375583188 0.00005
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser) rs1455462308 0.00005
NM_004364.5(CEBPA):c.582G>A (p.Pro194=) rs1202509655 0.00005
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418 0.00005
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu) rs776907891 0.00005
NM_207122.2(EXT2):c.1341G>A (p.Pro447=) rs774039598 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.588C>T (p.Pro196=) rs200009614 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_207122.2(EXT2):c.8C>T (p.Ala3Val) rs201185639 0.00005
NM_000127.3(EXT1):c.1695C>T (p.Asp565=) rs762218262 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000127.3(EXT1):c.591C>T (p.Ser197=) rs770795716 0.00004
NM_000127.3(EXT1):c.609C>T (p.Tyr203=) rs886042484 0.00004
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.330C>T (p.Gly110=) rs1207839159 0.00004
NM_004364.5(CEBPA):c.387C>A (p.Pro129=) rs1060504477 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.882C>T (p.Ile294=) rs376093748 0.00004
NM_004364.5(CEBPA):c.888G>A (p.Val296=) rs772999335 0.00004
NM_004364.5(CEBPA):c.909C>T (p.Ala303=) rs371444741 0.00004
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp) rs1306818311 0.00004
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) rs369156948 0.00004
NM_005373.3(MPL):c.1629T>C (p.Leu543=) rs150816330 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.1495+9C>G rs768311130 0.00004
NM_207122.2(EXT2):c.1663-16A>G rs201032203 0.00004
NM_207122.2(EXT2):c.1704T>A (p.Gly568=) rs145878394 0.00004
NM_207122.2(EXT2):c.1806+10C>T rs200520590 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg) rs200032672 0.00004
NM_207122.2(EXT2):c.849C>T (p.Leu283=) rs749093709 0.00004
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) rs549810739 0.00004
NM_207122.2(EXT2):c.940-18C>G rs375536301 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_207122.2(EXT2):c.996C>T (p.Ser332=) rs142692757 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.1285-9A>G rs761040629 0.00003
NM_000127.3(EXT1):c.1293G>A (p.Gln431=) rs773449892 0.00003
NM_000127.3(EXT1):c.1305C>A (p.Phe435Leu) rs183760697 0.00003
NM_000127.3(EXT1):c.1503C>G (p.Leu501=) rs146108006 0.00003
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) rs374887549 0.00003
NM_000127.3(EXT1):c.1899A>G (p.Leu633=) rs368191286 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_004364.5(CEBPA):c.816C>G (p.Gly272=) rs750852645 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005373.3(MPL):c.1665A>G (p.Thr555=) rs981464721 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.230del (p.Cys77fs) rs1291157023 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_005373.3(MPL):c.978C>T (p.Asp326=) rs202119310 0.00003
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1080-6C>T rs752180821 0.00003
NM_207122.2(EXT2):c.1194G>A (p.Ala398=) rs1011914306 0.00003
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) rs773613001 0.00003
NM_207122.2(EXT2):c.1461C>T (p.Val487=) rs150758739 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.1681G>C (p.Asp561His) rs151291188 0.00003
NM_207122.2(EXT2):c.1935+11C>G rs764143899 0.00003
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) rs746317053 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.699T>C (p.Tyr233=) rs1319747883 0.00003
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp) rs183424469 0.00003
NM_000127.3(EXT1):c.1338C>T (p.Asn446=) rs745637397 0.00002
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.148A>G (p.Ser50Gly) rs772811741 0.00002
NM_000127.3(EXT1):c.1509T>A (p.Ala503=) rs949806342 0.00002
NM_000127.3(EXT1):c.1608C>T (p.Val536=) rs761252195 0.00002
NM_000127.3(EXT1):c.1705G>A (p.Val569Met) rs1428345482 0.00002
NM_000127.3(EXT1):c.195C>T (p.Phe65=) rs1202105470 0.00002
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
NM_000127.3(EXT1):c.2106G>A (p.Gln702=) rs780640885 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro) rs758347621 0.00002
NM_000127.3(EXT1):c.2172C>T (p.Leu724=) rs570085150 0.00002
NM_000127.3(EXT1):c.66T>C (p.Tyr22=) rs764093488 0.00002
NM_000127.3(EXT1):c.699T>C (p.Ser233=) rs370644296 0.00002
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp) rs765050783 0.00002
NM_000127.3(EXT1):c.768C>T (p.Ile256=) rs566692634 0.00002
NM_000127.3(EXT1):c.962+7G>C rs778490814 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.39C>G (p.Pro13=) rs1015459376 0.00002
NM_004364.5(CEBPA):c.525G>A (p.Leu175=) rs975118445 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.576G>A (p.Pro192=) rs878854703 0.00002
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435 0.00002
NM_004364.5(CEBPA):c.765G>T (p.Gly255=) rs1163957359 0.00002
NM_004364.5(CEBPA):c.830C>T (p.Ser277Leu) rs1269133775 0.00002
NM_004364.5(CEBPA):c.897C>T (p.Ser299=) rs893018541 0.00002
NM_005373.3(MPL):c.1014G>A (p.Glu338=) rs767497390 0.00002
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171 0.00002
NM_005373.3(MPL):c.120T>C (p.Cys40=) rs747864027 0.00002
NM_005373.3(MPL):c.1632G>A (p.Arg544=) rs780927987 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.460T>C (p.Trp154Arg) rs758428763 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.1306-7C>G rs771232346 0.00002
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) rs760086935 0.00002
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=) rs1166915261 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1587C>T (p.Ile529=) rs765251957 0.00002
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys) rs1804679 0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) rs752606551 0.00002
NM_207122.2(EXT2):c.2018+17C>T rs375554352 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.743+10A>C rs762753229 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_207122.2(EXT2):c.93C>T (p.Ser31=) rs747830835 0.00002
NM_000127.3(EXT1):c.1014T>G (p.Arg338=) rs750458103 0.00001
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys) rs757411850 0.00001
NM_000127.3(EXT1):c.1164+8A>G rs765877825 0.00001
NM_000127.3(EXT1):c.123C>T (p.Ser41=) rs1186563531 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val) rs773539946 0.00001
NM_000127.3(EXT1):c.1284+19C>T rs774601928 0.00001
NM_000127.3(EXT1):c.1354T>C (p.Leu452=) rs1372000855 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.1467C>G (p.Pro489=) rs747800473 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.1545T>A (p.Val515=) rs200372337 0.00001
NM_000127.3(EXT1):c.1633-2A>G rs1233701691 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.1704G>A (p.Thr568=) rs146389596 0.00001
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu) rs1305323658 0.00001
NM_000127.3(EXT1):c.1740A>G (p.Thr580=) rs1340368285 0.00001
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg) rs1309175788 0.00001
NM_000127.3(EXT1):c.1758T>C (p.Pro586=) rs771063505 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.1839G>A (p.Thr613=) rs765677175 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.1920C>T (p.Ala640=) rs1480072354 0.00001
NM_000127.3(EXT1):c.2010C>T (p.Ile670=) rs745677100 0.00001
NM_000127.3(EXT1):c.2055+17C>T rs1295508874 0.00001
NM_000127.3(EXT1):c.2055+7A>C rs889836376 0.00001
NM_000127.3(EXT1):c.2100G>A (p.Gln700=) rs747703304 0.00001
NM_000127.3(EXT1):c.2121G>A (p.Thr707=) rs746184779 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.2199C>G (p.Val733=) rs201230140 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.303G>A (p.Glu101=) rs893833607 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.405A>G (p.Leu135=) rs1401060657 0.00001
NM_000127.3(EXT1):c.419G>T (p.Gly140Val) rs769557488 0.00001
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu) rs1385688129 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.69C>T (p.Phe23=) rs200276819 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.1020C>A (p.Gly340=) rs1226278699 0.00001
NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys) rs1439202716 0.00001
NM_004364.5(CEBPA):c.1048T>C (p.Leu350=) rs1348854829 0.00001
NM_004364.5(CEBPA):c.105G>A (p.Arg35=) rs1316909243 0.00001
NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly) rs577659401 0.00001
NM_004364.5(CEBPA):c.108C>T (p.Gly36=) rs1399064538 0.00001
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser) rs1415169403 0.00001
NM_004364.5(CEBPA):c.111G>C (p.Ala37=) rs1323312485 0.00001
NM_004364.5(CEBPA):c.117C>A (p.Pro39=) rs1318381484 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.138T>C (p.Pro46=) rs1387400759 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.153G>C (p.Pro51=) rs1054442664 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.210G>A (p.Pro70=) rs1432277634 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.24G>A (p.Glu8=) rs1967204947 0.00001
NM_004364.5(CEBPA):c.285G>A (p.Val95=) rs1248062306 0.00001
NM_004364.5(CEBPA):c.288C>T (p.Gly96=) rs919975422 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.408C>A (p.Ala136=) rs1265798915 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.429G>A (p.Leu143=) rs1429417241 0.00001
NM_004364.5(CEBPA):c.42G>A (p.Pro14=) rs1967203363 0.00001
NM_004364.5(CEBPA):c.447C>T (p.Arg149=) rs1967184069 0.00001
NM_004364.5(CEBPA):c.459G>A (p.Pro153=) rs779373951 0.00001
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile) rs1366281839 0.00001
NM_004364.5(CEBPA):c.462G>C (p.Ala154=) rs1481499354 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.501G>A (p.Glu167=) rs1277875501 0.00001
NM_004364.5(CEBPA):c.51C>A (p.Ser17Arg) rs1245499278 0.00001
NM_004364.5(CEBPA):c.522G>A (p.Ala174=) rs1272249243 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.555G>A (p.Pro185=) rs754400471 0.00001
NM_004364.5(CEBPA):c.569C>T (p.Ser190Leu) rs1555742114 0.00001
NM_004364.5(CEBPA):c.570G>A (p.Ser190=) rs1178690668 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.603G>A (p.Leu201=) rs1555742086 0.00001
NM_004364.5(CEBPA):c.609C>G (p.Ala203=) rs1394828055 0.00001
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser) rs1347174767 0.00001
NM_004364.5(CEBPA):c.633G>T (p.Ala211=) rs1345901618 0.00001
NM_004364.5(CEBPA):c.642C>T (p.Gly214=) rs1301372441 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.696G>T (p.Val232=) rs1213133617 0.00001
NM_004364.5(CEBPA):c.697C>A (p.Pro233Thr) rs933936962 0.00001
NM_004364.5(CEBPA):c.705G>T (p.Pro235=) rs1600022049 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.762G>A (p.Lys254=) rs1366451304 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.780C>T (p.His260=) rs1429055509 0.00001
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser) rs1263173603 0.00001
NM_004364.5(CEBPA):c.786C>T (p.Asp262=) rs747881336 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.822C>T (p.Ala274=) rs1967166737 0.00001
NM_004364.5(CEBPA):c.837C>T (p.Asp279=) rs1489721042 0.00001
NM_004364.5(CEBPA):c.861G>A (p.Val287=) rs981299051 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.900C>G (p.Arg300=) rs369123206 0.00001
NM_004364.5(CEBPA):c.913C>A (p.Gln305Lys) rs747606716 0.00001
NM_004364.5(CEBPA):c.966C>T (p.Asp322=) rs903305652 0.00001
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly) rs1422138876 0.00001
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) rs1355966040 0.00001
NM_005373.3(MPL):c.1053C>T (p.Arg351=) rs753608517 0.00001
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) rs751975712 0.00001
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599 0.00001
NM_005373.3(MPL):c.1140C>G (p.Gly380=) rs745697567 0.00001
NM_005373.3(MPL):c.1165+10T>C rs1392500587 0.00001
NM_005373.3(MPL):c.1165+8C>A rs760520500 0.00001
NM_005373.3(MPL):c.1166-4G>A rs753315546 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.1242G>A (p.Ser414=) rs544064034 0.00001
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) rs753018650 0.00001
NM_005373.3(MPL):c.1309-1G>T rs1243113655 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.1353G>A (p.Leu451=) rs1218597246 0.00001
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro) rs1207248925 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser) rs1018549208 0.00001
NM_005373.3(MPL):c.1443T>C (p.Thr481=) rs769867816 0.00001
NM_005373.3(MPL):c.1455C>A (p.Thr485=) rs1420201893 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.1468+8A>G rs1221843249 0.00001
NM_005373.3(MPL):c.1469-10T>C rs756761741 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.1554T>G (p.Pro518=) rs756010427 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.1566-8T>C rs1037232039 0.00001
NM_005373.3(MPL):c.1605G>T (p.Leu535=) rs371286903 0.00001
NM_005373.3(MPL):c.1704T>C (p.Leu568=) rs1428589548 0.00001
NM_005373.3(MPL):c.1731G>A (p.Arg577=) rs1297298234 0.00001
NM_005373.3(MPL):c.174G>A (p.Ala58=) rs141077413 0.00001
NM_005373.3(MPL):c.1773C>T (p.Tyr591=) rs752177268 0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) rs755447085 0.00001
NM_005373.3(MPL):c.231C>T (p.Cys77=) rs747378368 0.00001
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640 0.00001
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904 0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) rs1196161699 0.00001
NM_005373.3(MPL):c.391+7G>A rs201738900 0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val) rs780341646 0.00001
NM_005373.3(MPL):c.468G>A (p.Glu156=) rs747175671 0.00001
NM_005373.3(MPL):c.513T>C (p.Tyr171=) rs971985422 0.00001
NM_005373.3(MPL):c.519C>T (p.Pro173=) rs1384608430 0.00001
NM_005373.3(MPL):c.534C>T (p.Asn178=) rs1473089822 0.00001
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr) rs1313333589 0.00001
NM_005373.3(MPL):c.605dup (p.Ala203fs) rs1441276119 0.00001
NM_005373.3(MPL):c.618G>C (p.Leu206=) rs1334230054 0.00001
NM_005373.3(MPL):c.750C>T (p.Asn250=) rs753703546 0.00001
NM_005373.3(MPL):c.795C>T (p.Leu265=) rs774771300 0.00001
NM_005373.3(MPL):c.809G>A (p.Gly270Glu) rs1361284210 0.00001
NM_005373.3(MPL):c.840G>A (p.Leu280=) rs1313119276 0.00001
NM_005373.3(MPL):c.853+10C>A rs1341584081 0.00001
NM_005373.3(MPL):c.854-10T>C rs771241328 0.00001
NM_005373.3(MPL):c.936A>G (p.Gln312=) rs1647022428 0.00001
NM_005373.3(MPL):c.972C>T (p.Pro324=) rs1010774862 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005373.3(MPL):c.984C>T (p.Tyr328=) rs1174825503 0.00001
NM_207122.2(EXT2):c.1003T>C (p.Leu335=) rs766467969 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) rs369029338 0.00001
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101 0.00001
NM_207122.2(EXT2):c.1173+18G>A rs760436963 0.00001
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly) rs769052712 0.00001
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00001
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val) rs1279920600 0.00001
NM_207122.2(EXT2):c.1231C>T (p.Leu411=) rs914948841 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.1305+12C>G rs767006996 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 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.1518G>T (p.Arg506=) rs747230848 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.1824T>A (p.Tyr608Ter) rs781083252 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.1974A>G (p.Thr658=) rs1319948823 0.00001
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro) rs771936445 0.00001
NM_207122.2(EXT2):c.211C>T (p.Leu71=) rs766800368 0.00001
NM_207122.2(EXT2):c.2136C>T (p.Phe712=) rs575302404 0.00001
NM_207122.2(EXT2):c.219C>T (p.Ala73=) rs774620075 0.00001
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) rs755625888 0.00001
NM_207122.2(EXT2):c.246T>C (p.Asp82=) rs559280035 0.00001
NM_207122.2(EXT2):c.252T>C (p.Ser84=) rs1463030663 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.267G>A (p.Thr89=) rs1386417457 0.00001
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) rs147587178 0.00001
NM_207122.2(EXT2):c.408C>T (p.Ala136=) rs777178095 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.537-19A>G rs764148237 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.678C>T (p.Tyr226=) rs1406801697 0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.744-11T>A rs754484381 0.00001
NM_207122.2(EXT2):c.753A>G (p.Gln251=) rs1310756667 0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) rs745738318 0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) rs375468766 0.00001
NM_207122.2(EXT2):c.936A>G (p.Leu312=) rs760218623 0.00001
NM_207122.2(EXT2):c.940-9T>C rs374555467 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
NM_207122.2(EXT2):c.9G>A (p.Ala3=) rs774142487 0.00001
NC_000001.10:g.(?_43800988)_(43803797_?)del
NC_000001.10:g.(?_43803510)_(43806194_?)del
NC_000001.10:g.(?_43812096)_(43818443_?)dup
NC_000001.11:g.(?_43349253)_(43349369_?)del
NC_000008.10:g.(?_117647788)_(120797526_?)dup
NC_000008.10:g.(?_118803587)_(118819524_?)del
NC_000008.10:g.(?_118811951)_(118812156_?)del
NC_000008.10:g.(?_118811951)_(118834836_?)del
NC_000008.10:g.(?_118811951)_(118849460_?)del
NC_000008.10:g.(?_118816941)_(118817152_?)del
NC_000008.10:g.(?_118819436)_(118825220_?)del
NC_000008.10:g.(?_118819436)_(118847810_?)del
NC_000008.10:g.(?_118819446)_(119123285_?)dup
NC_000008.10:g.(?_118825091)_(118825220_?)del
NC_000008.10:g.(?_118825208)_119035925del
NC_000008.10:g.(?_118830654)_(118849460_?)del
NC_000008.10:g.(?_118831895)_(118834856_?)del
NC_000008.10:g.(?_118842449)_(118842608_?)del
NC_000008.10:g.(?_118847663)_(118849460_?)del
NC_000008.10:g.(?_119122304)_(119123285_?)del
NC_000008.11:g.(?_117799692)_(117799917_?)del
NC_000008.11:g.(?_117799692)_(118111066_?)del
NC_000008.11:g.(?_117807197)_(117807397_?)del
NC_000008.11:g.(?_117812852)_(117837221_?)dup
NC_000008.11:g.(?_117830210)_(117837221_?)del
NC_000008.11:g.(?_118110065)_(118111066_?)del
NC_000008.11:g.(?_118110065)_(118111066_?)dup
NC_000011.10:g.(?_44096233)_(44130158_?)del
NC_000011.10:g.(?_44096233)_(44244388_?)del
NC_000011.10:g.(?_44107663)_(44108268_?)del
NC_000011.10:g.(?_44107663)_(44130158_?)del
NC_000011.10:g.(?_44124769)_(44126975_?)del
NC_000011.10:g.(?_44144227)_(44198038_?)del
NC_000011.10:g.(?_44171591)_(44171762_?)del
NC_000011.10:g.(?_44171591)_(44206979_?)del
NC_000011.10:g.(?_44206773)_(44206979_?)del
NC_000011.10:g.(?_44206793)_(44206959_?)del
NC_000011.10:g.44109194del
NC_000011.9:g.(?_44129235)_(44129808_?)del
NC_000011.9:g.(?_44129235)_(44151698_?)del
NC_000011.9:g.(?_44219359)_(44228529_?)del
NC_000019.9:g.(?_33532300)_(33793320_?)dup
NC_000019.9:g.(?_33792234)_(33793330_?)dup
NM_000127.2(EXT1):c.1418del rs1811893467
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg) rs1812200901
NM_000127.3(EXT1):c.1013G>A (p.Arg338His) rs1288618931
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser) rs2129791225
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.3(EXT1):c.1016G>T (p.Gly339Val)
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly) rs119103290
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu) rs119103287
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg) rs978347552
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu) rs1206600641
NM_000127.3(EXT1):c.1036A>G (p.Arg346Gly) rs1554580147
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile) rs1812200035
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
NM_000127.3(EXT1):c.1038A>G (p.Arg346=) rs2129791072
NM_000127.3(EXT1):c.103del (p.Ser35fs) rs1563659821
NM_000127.3(EXT1):c.1046_1047del (p.Glu349fs)
NM_000127.3(EXT1):c.1050T>G (p.Ala350=) rs751521449
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
NM_000127.3(EXT1):c.1052dup (p.Leu351fs) rs2129790994
NM_000127.3(EXT1):c.1053_1056+1del rs1563575654
NM_000127.3(EXT1):c.1056+1G>A rs886039354
NM_000127.3(EXT1):c.1056+1G>T rs886039354
NM_000127.3(EXT1):c.1056+2T>A rs1554580142
NM_000127.3(EXT1):c.1056+3A>C rs1554580140
NM_000127.3(EXT1):c.1056+4A>G
NM_000127.3(EXT1):c.1056G>T (p.Gln352His) rs1812199676
NM_000127.3(EXT1):c.1057-12dup rs775982542
NM_000127.3(EXT1):c.1057-1G>C rs1587003661
NM_000127.3(EXT1):c.1057-2A>G rs1587003662
NM_000127.3(EXT1):c.1057-2A>T rs1587003662
NM_000127.3(EXT1):c.1057-3C>G
NM_000127.3(EXT1):c.1057-8T>C
NM_000127.3(EXT1):c.1063T>C (p.Cys355Arg) rs1587003655
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr) rs2129786671
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
NM_000127.3(EXT1):c.1065C>A (p.Cys355Ter) rs11546829
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg) rs1131691337
NM_000127.3(EXT1):c.1073dup (p.Met359fs) rs2129786583
NM_000127.3(EXT1):c.1076dup (p.Met359fs) rs2129786574
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter) rs1812174128
NM_000127.3(EXT1):c.111del (p.Glu38fs) rs1586280235
NM_000127.3(EXT1):c.1122G>A (p.Trp374Ter) rs2129786370
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter) rs1812173838
NM_000127.3(EXT1):c.1126del (p.Gln376fs) rs2129786342
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.1134C>T (p.Ala378=)
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val) rs747020325
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs) rs1812173037
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter) rs2129786157
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter) rs1817891356
NM_000127.3(EXT1):c.115del (p.Glu39fs) rs1586280217
NM_000127.3(EXT1):c.1162C>T (p.Gln388Ter) rs2129786122
NM_000127.3(EXT1):c.1164+15G>A
NM_000127.3(EXT1):c.1164+1G>A rs2129786098
NM_000127.3(EXT1):c.1164+1G>T
NM_000127.3(EXT1):c.1164+3A>G
NM_000127.3(EXT1):c.1165-1G>C
NM_000127.3(EXT1):c.1165-2A>C
NM_000127.3(EXT1):c.1165-2A>G
NM_000127.3(EXT1):c.1165-3C>G rs1812078461
NM_000127.3(EXT1):c.1165-4A>G
NM_000127.3(EXT1):c.1165-6T>G rs1812078551
NM_000127.3(EXT1):c.1167del (p.Pro390fs) rs1812078315
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.1192C>T (p.Gln398Ter) rs561006425
NM_000127.3(EXT1):c.1193del (p.Gln398fs) rs2129772368
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.1215_1218del (p.Arg405fs) rs1369118661
NM_000127.3(EXT1):c.1217del (p.Gln406fs) rs2129772259
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter) rs1812077342
NM_000127.3(EXT1):c.1220del (p.Gln407fs) rs1812077295
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys) rs755694640
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
NM_000127.3(EXT1):c.1234del (p.Trp412fs) rs1812076996
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs) rs1812076915
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter) rs1587001428
NM_000127.3(EXT1):c.1239G>A (p.Glu413=) rs756701753
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
NM_000127.3(EXT1):c.1249del (p.Ser417fs)
NM_000127.3(EXT1):c.124_962+1815del
NM_000127.3(EXT1):c.1263G>A (p.Lys421=) rs2129772013
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro) rs1812075737
NM_000127.3(EXT1):c.1284+12del
NM_000127.3(EXT1):c.1284+20T>C
NM_000127.3(EXT1):c.1284+2dup
NM_000127.3(EXT1):c.1284+7G>A
NM_000127.3(EXT1):c.1285-1G>T rs1811943967
NM_000127.3(EXT1):c.1285-6T>G
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe) rs2129749685
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter) rs1811943921
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
NM_000127.3(EXT1):c.1296del (p.Asp432fs)
NM_000127.3(EXT1):c.1297A>C (p.Arg433=) rs1037557280
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
NM_000127.3(EXT1):c.129del (p.Asn44fs) rs1817890492
NM_000127.3(EXT1):c.1307dup (p.His437fs)
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.1315_1337dup (p.Asn446_Lys447insHisValThrValTer) rs1563571296
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter) rs1563571318
NM_000127.3(EXT1):c.1316C>G (p.Ser439Ter) rs1563571318
NM_000127.3(EXT1):c.1317dup (p.Arg440fs)
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter) rs1811942900
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter) rs1811942574
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu) rs1811942159
NM_000127.3(EXT1):c.1350del (p.Gly451fs) rs1811942117
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu) rs1430395411
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
NM_000127.3(EXT1):c.1383T>A (p.Tyr461Ter)
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
NM_000127.3(EXT1):c.1384_1388del (p.Leu462fs) rs2129749144
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.1400dup (p.Tyr467Ter) rs1811941012
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter) rs1811940928
NM_000127.3(EXT1):c.1401del (p.Tyr468fs) rs1554579004
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter) rs1811940837
NM_000127.3(EXT1):c.1405del (p.Tyr469fs) rs1811940788
NM_000127.3(EXT1):c.1407T>G (p.Tyr469Ter)
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr) rs746738537
NM_000127.3(EXT1):c.1417+16C>T
NM_000127.3(EXT1):c.1417+19G>C
NM_000127.3(EXT1):c.1417+1G>A rs1586997796
NM_000127.3(EXT1):c.1417+1G>T rs1586997796
NM_000127.3(EXT1):c.1417+1del rs2129748931
NM_000127.3(EXT1):c.1417+2T>A rs1554578992
NM_000127.3(EXT1):c.1417+2dup
NM_000127.3(EXT1):c.1417+6T>C rs1811940247
NM_000127.3(EXT1):c.1418-13C>T
NM_000127.3(EXT1):c.1418-13_1418-11del rs1203626052
NM_000127.3(EXT1):c.1418-1G>A rs2129741436
NM_000127.3(EXT1):c.1418-20T>C rs376258820
NM_000127.3(EXT1):c.1418-2A>G rs1554578802
NM_000127.3(EXT1):c.1418-7A>G
NM_000127.3(EXT1):c.1418-8T>G
NM_000127.3(EXT1):c.141C>T (p.His47=)
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter) rs1811893325
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter) rs1811893325
NM_000127.3(EXT1):c.1424del (p.Lys475fs)
NM_000127.3(EXT1):c.1425G>A (p.Lys475=) rs1442814688
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
NM_000127.3(EXT1):c.1431del (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1437del (p.Lys479fs)
NM_000127.3(EXT1):c.1458G>A (p.Ala486=) rs765275156
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn) rs759514310
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
NM_000127.3(EXT1):c.1468del (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter) rs1811890821
NM_000127.3(EXT1):c.147C>T (p.Pro49=) rs1248782526
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
NM_000127.3(EXT1):c.1503C>T (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.1508_1512del (p.Ala503fs)
NM_000127.3(EXT1):c.1515C>A (p.Ala505=) rs2129740778
NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter) rs2129740737
NM_000127.3(EXT1):c.1522del (p.Gln508fs) rs2129740749
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter) rs1383256196
NM_000127.3(EXT1):c.1536+11A>G
NM_000127.3(EXT1):c.1536+1G>A rs1811889441
NM_000127.3(EXT1):c.1536+1G>C rs1811889441
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.1537-16G>A
NM_000127.3(EXT1):c.1537-1G>C rs2129736985
NM_000127.3(EXT1):c.1537-2A>G rs1554578710
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
NM_000127.3(EXT1):c.1550G>A (p.Trp517Ter)
NM_000127.3(EXT1):c.1567del (p.Leu523fs) rs1811864784
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter) rs1563569983
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter)
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
NM_000127.3(EXT1):c.15dup (p.Arg6fs) rs759834555
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter) rs1811863055
NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter) rs2129736434
NM_000127.3(EXT1):c.1632+10G>A
NM_000127.3(EXT1):c.1632+16G>A
NM_000127.3(EXT1):c.1632+16G>C
NM_000127.3(EXT1):c.1632+1dup rs1811862827
NM_000127.3(EXT1):c.1632+2T>G
NM_000127.3(EXT1):c.1632+9C>A rs368634215
NM_000127.3(EXT1):c.1633-14C>G
NM_000127.3(EXT1):c.1633-15T>A
NM_000127.3(EXT1):c.1633-16T>C
NM_000127.3(EXT1):c.1633-1G>A rs1823354043
NM_000127.3(EXT1):c.1633-1G>T rs1823354043
NM_000127.3(EXT1):c.1633-34_1670del rs1554657940
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
NM_000127.3(EXT1):c.1642del (p.Ser548fs)
NM_000127.3(EXT1):c.1656del (p.Tyr553fs) rs1823353269
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
NM_000127.3(EXT1):c.1658dup (p.Tyr553Ter) rs2129720355
NM_000127.3(EXT1):c.1659C>G (p.Tyr553Ter) rs757115396
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer) rs1823353089
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.1666dup (p.Ile556fs)
NM_000127.3(EXT1):c.1668_1680dup (p.Val561fs)
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala) rs368004125
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
NM_000127.3(EXT1):c.1670_1687del (p.Ile557_Leu562del)
NM_000127.3(EXT1):c.1677C>T (p.Asp559=) rs752594306
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs) rs1823352329
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs) rs1823351882
NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs) rs1823352107
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs) rs1823352107
NM_000127.3(EXT1):c.1685T>C (p.Leu562Pro)
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs) rs1554657927
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
NM_000127.3(EXT1):c.1692dup (p.Asp565Ter) rs2129720016
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter) rs1586993117
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs) rs1823350888
NM_000127.3(EXT1):c.1722+11A>G
NM_000127.3(EXT1):c.1722+1G>A
NM_000127.3(EXT1):c.1722+1G>T rs1823350857
NM_000127.3(EXT1):c.1722+2T>G rs1823350795
NM_000127.3(EXT1):c.1722+2dup
NM_000127.3(EXT1):c.1723-17T>A rs2129702062
NM_000127.3(EXT1):c.1723-2A>C rs1823255835
NM_000127.3(EXT1):c.1723-2A>T rs1823255835
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
NM_000127.3(EXT1):c.1745G>A (p.Trp582Ter) rs1586990402
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) rs1586990398
NM_000127.3(EXT1):c.1762dup (p.Arg588fs) rs2129701760
NM_000127.3(EXT1):c.1767dup (p.Val590fs)
NM_000127.3(EXT1):c.176del (p.Pro59fs) rs1817889027
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs) rs1823254431
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
NM_000127.3(EXT1):c.1773del (p.Tyr592fs) rs1586990361
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter) rs1823254238
NM_000127.3(EXT1):c.1779del (p.Ala594fs) rs2129701642
NM_000127.3(EXT1):c.1784_1785del (p.Arg595fs)
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr) rs2130045112
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter) rs1823253698
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter) rs1718310043
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
NM_000127.3(EXT1):c.1805_1806del (p.Asn601_Ser602insTer)
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter) rs1823253516
NM_000127.3(EXT1):c.1807A>T (p.Lys603Ter)
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter) rs1554657437
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln) rs755747479
NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter) rs1586990317
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter) rs1823253080
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter) rs1823253013
NM_000127.3(EXT1):c.1819_1820del (p.Gly607fs)
NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter) rs2129701251
NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter)
NM_000127.3(EXT1):c.1836G>A (p.Trp612Ter) rs2129701239
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
NM_000127.3(EXT1):c.1844dup (p.Asp615fs)
NM_000127.3(EXT1):c.1845C>T (p.Asp615=) rs2129701116
NM_000127.3(EXT1):c.1845del (p.Tyr616fs) rs2129701119
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter) rs1563873580
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr) rs1823251698
NM_000127.3(EXT1):c.1872T>C (p.Ala624=) rs1823251633
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter) rs886039357
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter) rs2129700894
NM_000127.3(EXT1):c.1883+14A>T
NM_000127.3(EXT1):c.1883+1G>A rs1823251265
NM_000127.3(EXT1):c.1883+1G>T rs1823251265
NM_000127.3(EXT1):c.1883+2T>C rs1823251224
NM_000127.3(EXT1):c.1883+6del
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
NM_000127.3(EXT1):c.1884-1G>A rs1131691623
NM_000127.3(EXT1):c.1884-1G>T rs1131691623
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del) rs1823215172
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs) rs1823215251
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=) rs1823215215
NM_000127.3(EXT1):c.1888dup (p.Tyr630fs)
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.1900_1901insGG (p.Tyr634fs)
NM_000127.3(EXT1):c.1902C>G (p.Tyr634Ter) rs2129694149
NM_000127.3(EXT1):c.1906del (p.His636fs) rs2129694129
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter) rs1586989220
NM_000127.3(EXT1):c.1925del (p.Leu642fs) rs1823214768
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu) rs1823214606
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
NM_000127.3(EXT1):c.1944del (p.Gln648fs) rs1586989202
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
NM_000127.3(EXT1):c.194del (p.Phe65fs)
NM_000127.3(EXT1):c.1965del (p.Leu656fs) rs1823213816
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
NM_000127.3(EXT1):c.1971del (p.Met657fs) rs1823213767
NM_000127.3(EXT1):c.1983G>A (p.Val661=) rs962526270
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
NM_000127.3(EXT1):c.1998dup (p.Leu667fs) rs2129693616
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp) rs2130046079
NM_000127.3(EXT1):c.1A>C (p.Met1Leu)
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter) rs1131692020
NM_000127.3(EXT1):c.2004del (p.Pro669fs) rs1563872934
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.2016G>A (p.Val672=)
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter) rs1823212809
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter) rs1823212774
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter) rs2130044984
NM_000127.3(EXT1):c.2043A>T (p.Thr681=) rs746481404
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs) rs1823212594
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter) rs1823212414
NM_000127.3(EXT1):c.2055+10G>A
NM_000127.3(EXT1):c.2055+20del
NM_000127.3(EXT1):c.2055+5G>A rs1823212383
NM_000127.3(EXT1):c.2056-14C>G
NM_000127.3(EXT1):c.2056-14C>T rs759290391
NM_000127.3(EXT1):c.2059del (p.Ser687fs) rs1554656288
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys) rs1586987089
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter) rs1817887343
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter) rs1554656266
NM_000127.3(EXT1):c.2115del (p.Met705fs) rs1823137578
NM_000127.3(EXT1):c.2119dup (p.Thr707fs) rs1823137520
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met) rs756718693
NM_000127.3(EXT1):c.2131del (p.Trp711fs) rs2129679904
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter) rs2129679879
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.2179G>A (p.Val727Ile)
NM_000127.3(EXT1):c.218del (p.Asn73fs) rs1554601568
NM_000127.3(EXT1):c.2199C>T (p.Val733=) rs201230140
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.240T>C (p.Ile80=)
NM_000127.3(EXT1):c.243C>A (p.Ser81=) rs916118962
NM_000127.3(EXT1):c.247del (p.Arg83fs) rs1554601559
NM_000127.3(EXT1):c.247dup (p.Arg83fs) rs1554601559
NM_000127.3(EXT1):c.249dup (p.Gln84fs)
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter) rs1064793753
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
NM_000127.3(EXT1):c.256C>T (p.Arg86Ter)
NM_000127.3(EXT1):c.260A>T (p.Asp87Val) rs2130044605
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
NM_000127.3(EXT1):c.266dup (p.Asn89fs) rs1817885411
NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs) rs1586279952
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn) rs1402667727
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter) rs1227875610
NM_000127.3(EXT1):c.282dup (p.Gly95fs) rs1563659649
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter) rs1817884837
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs) rs2130044431
NM_000127.3(EXT1):c.287del (p.Lys96fs) rs1817884791
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn) rs2130044422
NM_000127.3(EXT1):c.293del (p.Cys98fs) rs2130044416
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
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.331A>T (p.Lys111Ter)
NM_000127.3(EXT1):c.345dup (p.Val116fs)
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter) rs982804750
NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)
NM_000127.3(EXT1):c.357C>G (p.Tyr119Ter)
NM_000127.3(EXT1):c.360dup (p.Gln121fs) rs1817882619
NM_000127.3(EXT1):c.361C>T (p.Gln121Ter) rs2130043930
NM_000127.3(EXT1):c.364C>T (p.Gln122Ter) rs1586279835
NM_000127.3(EXT1):c.369_370del (p.Lys126fs) rs2130043872
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu) rs761940324
NM_000127.3(EXT1):c.373G>T (p.Glu125Ter)
NM_000127.3(EXT1):c.373del (p.Glu125fs)
NM_000127.3(EXT1):c.373dup (p.Glu125fs) rs2130043834
NM_000127.3(EXT1):c.379del (p.Ile127fs)
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
NM_000127.3(EXT1):c.385G>T (p.Glu129Ter)
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter) rs2130043699
NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter) rs2130043699
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer) rs1817881036
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.414C>T (p.Ile138=)
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
NM_000127.3(EXT1):c.419del (p.Gly140fs)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe) rs1817880635
NM_000127.3(EXT1):c.423C>T (p.Ser141=) rs2130043533
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser) rs1188458258
NM_000127.3(EXT1):c.435del (p.Ser146fs) rs2130043490
NM_000127.3(EXT1):c.43_53del (p.Ser15fs)
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
NM_000127.3(EXT1):c.444dup (p.Ser149fs)
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg) rs1817880148
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
NM_000127.3(EXT1):c.453G>C (p.Ala151=) rs780843781
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr) rs2130043370
NM_000127.3(EXT1):c.455_456del (p.Cys152fs)
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter) rs1554601534
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro) rs1817879832
NM_000127.3(EXT1):c.461_462del (p.Phe154fs) rs2130043334
NM_000127.3(EXT1):c.465C>T (p.Val155=)
NM_000127.3(EXT1):c.46del (p.Cys16fs) rs1817893887
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs) rs1817879250
NM_000127.3(EXT1):c.487dup (p.Arg163fs) rs1817879250
NM_000127.3(EXT1):c.490_491del (p.Asp164fs) rs1817879125
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro) rs1227559201
NM_000127.3(EXT1):c.49_61del (p.Leu17fs)
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter) rs1817895168
NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)
NM_000127.3(EXT1):c.515_527del (p.His172fs)
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter) rs1817878703
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp) rs1448140995
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
NM_000127.3(EXT1):c.533_534dup (p.Gln179fs) rs1554601525
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter) rs886039561
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000127.3(EXT1):c.540_962+399del rs2130039927
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
NM_000127.3(EXT1):c.542_543del (p.Leu181fs) rs1563659474
NM_000127.3(EXT1):c.551_552del (p.Leu183_Trp184insTer)
NM_000127.3(EXT1):c.552G>A (p.Trp184Ter)
NM_000127.3(EXT1):c.557_558del (p.Asn186fs) rs2130042921
NM_000127.3(EXT1):c.558T>C (p.Asn186=) rs1817877428
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
NM_000127.3(EXT1):c.55del (p.Leu19fs)
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.572T>C (p.Leu191Ser) rs1563659467
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.582T>C (p.Asn194=)
NM_000127.3(EXT1):c.584T>G (p.Leu195Ter) rs1586279621
NM_000127.3(EXT1):c.593G>T (p.Gly198Val) rs1817876363
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala) rs1817876310
NM_000127.3(EXT1):c.598_669del (p.Trp200_Thr223del) rs1554601502
NM_000127.3(EXT1):c.600G>A (p.Trp200Ter) rs1817876148
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys) rs1817876148
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser) rs1817876107
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe) rs1817893321
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs) rs2130045851
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
NM_000127.3(EXT1):c.613G>T (p.Glu205Ter) rs2130042683
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter) rs2130042549
NM_000127.3(EXT1):c.642_663del (p.Met215fs) rs1586279544
NM_000127.3(EXT1):c.642_675del (p.Met215fs) rs1586279535
NM_000127.3(EXT1):c.644_647dup (p.Lys218fs) rs1554601507
NM_000127.3(EXT1):c.644_654del (p.Met215fs) rs2130042421
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
NM_000127.3(EXT1):c.648G>A (p.Leu216=) rs2130042468
NM_000127.3(EXT1):c.649_662del (p.Ala217fs) rs1817874249
NM_000127.3(EXT1):c.651_663del (p.Lys218fs) rs1554601504
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs) rs1817873963
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly) rs1554601506
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter) rs764093488
NM_000127.3(EXT1):c.674del (p.Asn225fs) rs1817873681
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter) rs1817873582
NM_000127.3(EXT1):c.686dup (p.Asn229fs) rs1817873443
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
NM_000127.3(EXT1):c.692_694del (p.Asp231del) rs1817873196
NM_000127.3(EXT1):c.698del (p.Ser233fs) rs1817872999
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg) rs1817893036
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer) rs2130042109
NM_000127.3(EXT1):c.712del (p.Ser238fs)
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
NM_000127.3(EXT1):c.739G>T (p.Glu247Ter)
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
NM_000127.3(EXT1):c.747del (p.Phe250_Leu251insTer) rs1817872132
NM_000127.3(EXT1):c.747dup (p.Phe250fs) rs1817872132
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer) rs2130041954
NM_000127.3(EXT1):c.756del (p.Lys252fs)
NM_000127.3(EXT1):c.757_760dup (p.Asn254fs)
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser) rs1817871592
NM_000127.3(EXT1):c.770del (p.Pro257fs) rs2130041891
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs) rs1817871338
NM_000127.3(EXT1):c.773C>A (p.Pro258His) rs2130041856
NM_000127.3(EXT1):c.773_777del (p.Pro258fs) rs2130041831
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
NM_000127.3(EXT1):c.787del (p.Met263fs) rs2130041790
NM_000127.3(EXT1):c.791T>G (p.Leu264Arg) rs377162411
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile) rs2130041754
NM_000127.3(EXT1):c.798del (p.Phe266fs) rs1563659352
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter) rs1817892723
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg) rs1554601492
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg) rs1554601492
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu) rs886039352
NM_000127.3(EXT1):c.803G>T (p.Gly268Val) rs886039352
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys) rs1064793786
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs) rs1817870176
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer) rs1817870237
NM_000127.3(EXT1):c.830C>G (p.Ser277Ter)
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr) rs2130041549
NM_000127.3(EXT1):c.837dup (p.Arg280fs) rs2130041540
NM_000127.3(EXT1):c.838A>G (p.Arg280Gly) rs1554601483
NM_000127.3(EXT1):c.838A>T (p.Arg280Trp)
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr) rs1586279403
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser) rs1563659325
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
NM_000127.3(EXT1):c.846del (p.Leu283fs) rs1554601481
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter) rs1057520608
NM_000127.3(EXT1):c.854dup (p.His285fs) rs1554601476
NM_000127.3(EXT1):c.855C>T (p.His285=)
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter) rs759708614
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.907del (p.Asp303fs) rs2130041164
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg) rs1413726979
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter) rs1817868370
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter) rs1554601474
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg) rs1817867776
NM_000127.3(EXT1):c.934_936del (p.Cys312del) rs1817867722
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
NM_000127.3(EXT1):c.949del (p.Thr317fs)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser) rs748945641
NM_000127.3(EXT1):c.957T>A (p.Tyr319Ter) rs1586279297
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter) rs1817866954
NM_000127.3(EXT1):c.962+17del
NM_000127.3(EXT1):c.962+18C>T
NM_000127.3(EXT1):c.962+1G>A rs886039353
NM_000127.3(EXT1):c.962+1G>C rs886039353
NM_000127.3(EXT1):c.962+1G>T rs886039353
NM_000127.3(EXT1):c.962+5G>C
NM_000127.3(EXT1):c.962+7G>A rs778490814
NM_000127.3(EXT1):c.962+8_962+11del rs138812713
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
NM_000127.3(EXT1):c.963-13C>T
NM_000127.3(EXT1):c.963-14T>G
NM_000127.3(EXT1):c.963-15C>T
NM_000127.3(EXT1):c.963-2A>G rs1554580162
NM_000127.3(EXT1):c.963-7dup rs2129791582
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
NM_000127.3(EXT1):c.978A>G (p.Glu326=) rs2129791475
NM_000127.3(EXT1):c.988_989insTC (p.Asn330fs) rs1563575697
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp) rs1554580153
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.1008C>T (p.Asp336=)
NM_004364.5(CEBPA):c.100C>T (p.Pro34Ser) rs996435066
NM_004364.5(CEBPA):c.1011G>C (p.Thr337=)
NM_004364.5(CEBPA):c.1017G>C (p.Arg339=) rs2145258335
NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala)
NM_004364.5(CEBPA):c.1020C>T (p.Gly340=) rs1226278699
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.102C>A (p.Pro34=)
NM_004364.5(CEBPA):c.1032G>A (p.Gln344=) rs1967157574
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.1047C>T (p.Ser349=)
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln) rs1967200345
NM_004364.5(CEBPA):c.1050G>A (p.Leu350=)
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.1059C>T (p.Ala353=)
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.1071C>T (p.Cys357=) 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.1074G>T (p.Ala358=) rs2145257987
NM_004364.5(CEBPA):c.108C>A (p.Gly36=) rs1399064538
NM_004364.5(CEBPA):c.109G>A (p.Ala37Thr) rs1404014711
NM_004364.5(CEBPA):c.110C>T (p.Ala37Val)
NM_004364.5(CEBPA):c.111G>A (p.Ala37=) rs1323312485
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.114C>A (p.Gly38=) rs1600024309
NM_004364.5(CEBPA):c.114C>T (p.Gly38=)
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.117C>T (p.Pro39=) rs1318381484
NM_004364.5(CEBPA):c.118G>A (p.Ala40Thr)
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val) rs1967198676
NM_004364.5(CEBPA):c.120G>T (p.Ala40=) rs1555742292
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.125del (p.Pro42fs) rs2145264339
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.129C>A (p.Pro43=) rs1060504476
NM_004364.5(CEBPA):c.129C>T (p.Pro43=) rs1060504476
NM_004364.5(CEBPA):c.132C>T (p.Ala44=) rs1060504474
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.138T>A (p.Pro46=) rs1387400759
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.141C>T (p.Ala47=) rs2145264175
NM_004364.5(CEBPA):c.142G>T (p.Ala48Ser)
NM_004364.5(CEBPA):c.144C>T (p.Ala48=) rs2145264160
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.147G>A (p.Pro49=) rs2145264142
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.153G>T (p.Pro51=) rs1054442664
NM_004364.5(CEBPA):c.156G>A (p.Leu52=) rs1445416977
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.159C>T (p.Gly53=) rs1555742279
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser) rs777090929
NM_004364.5(CEBPA):c.160G>C (p.Gly54Arg)
NM_004364.5(CEBPA):c.162C>T (p.Gly54=) rs2145264026
NM_004364.5(CEBPA):c.165C>T (p.Ile55=) rs1600024047
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter) rs1967195832
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.174C>T (p.His58=) rs878854699
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter) rs1210600080
NM_004364.5(CEBPA):c.177G>A (p.Glu59=) rs2145263936
NM_004364.5(CEBPA):c.178A>T (p.Thr60Ser) rs1060502120
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)
NM_004364.5(CEBPA):c.180G>T (p.Thr60=) rs1243562179
NM_004364.5(CEBPA):c.183C>T (p.Ser61=) rs2145263896
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val) rs558462037
NM_004364.5(CEBPA):c.186C>A (p.Ile62=) rs1967195162
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met) rs1967195162
NM_004364.5(CEBPA):c.186C>T (p.Ile62=) rs1967195162
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs) rs1060502121
NM_004364.5(CEBPA):c.187G>C (p.Asp63His) rs1452063514
NM_004364.5(CEBPA):c.18C>T (p.Phe6=) rs2145265092
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.195_198delinsACG (p.Ser65fs) rs1600023950
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.206del (p.Asp69fs) rs1967194243
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.210G>C (p.Pro70=) rs1432277634
NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr) rs1555742260
NM_004364.5(CEBPA):c.212C>T (p.Ala71Val)
NM_004364.5(CEBPA):c.213C>T (p.Ala71=) rs2145263717
NM_004364.5(CEBPA):c.214G>T (p.Ala72Ser) rs2145263697
NM_004364.5(CEBPA):c.216C>T (p.Ala72=) rs2145263684
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)
NM_004364.5(CEBPA):c.218T>G (p.Phe73Cys) rs1555742258
NM_004364.5(CEBPA):c.222C>T (p.Asn74=) rs1324116336
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.231C>T (p.Phe77=)
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.237C>T (p.Ala79=) rs1967193109
NM_004364.5(CEBPA):c.240C>T (p.Asp80=) rs2145263542
NM_004364.5(CEBPA):c.252C>T (p.His84=) rs878854700
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.261G>A (p.Gln87=)
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>A (p.Lys90=) rs2145263399
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.279G>T (p.Ala93=)
NM_004364.5(CEBPA):c.27G>A (p.Ala9=) rs1555742328
NM_004364.5(CEBPA):c.27G>T (p.Ala9=) rs1555742328
NM_004364.5(CEBPA):c.282C>T (p.Ala94=)
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.288C>A (p.Gly96=) rs919975422
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.294G>A (p.Thr98=) rs2145263234
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[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.297C>A (p.Gly99=) rs1967191186
NM_004364.5(CEBPA):c.297C>G (p.Gly99=) rs1967191186
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.306C>T (p.Gly102=) rs1273467139
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.312C>G (p.Gly104=) rs1600023585
NM_004364.5(CEBPA):c.312C>T (p.Gly104=)
NM_004364.5(CEBPA):c.313_315dup (p.Asp105dup) rs1568420047
NM_004364.5(CEBPA):c.315C>T (p.Asp105=) rs2145263071
NM_004364.5(CEBPA):c.316T>G (p.Phe106Val)
NM_004364.5(CEBPA):c.318T>C (p.Phe106=) rs1555742225
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.320del (p.Asp107fs) rs1600023511
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.327G>A (p.Pro109=)
NM_004364.5(CEBPA):c.327G>C (p.Pro109=) rs1269033726
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.330C>A (p.Gly110=) rs1207839159
NM_004364.5(CEBPA):c.330C>G (p.Gly110=) rs1207839159
NM_004364.5(CEBPA):c.333G>A (p.Ala111=) rs2145262901
NM_004364.5(CEBPA):c.333G>T (p.Ala111=) rs2145262901
NM_004364.5(CEBPA):c.335C>T (p.Pro112Leu) rs2145262888
NM_004364.5(CEBPA):c.336C>G (p.Pro112=)
NM_004364.5(CEBPA):c.336C>T (p.Pro112=) rs2145262884
NM_004364.5(CEBPA):c.339G>A (p.Ala113=) rs1032707295
NM_004364.5(CEBPA):c.339G>T (p.Ala113=)
NM_004364.5(CEBPA):c.33G>A (p.Pro11=)
NM_004364.5(CEBPA):c.343C>T (p.Pro115Ser) rs2145262821
NM_004364.5(CEBPA):c.344C>T (p.Pro115Leu)
NM_004364.5(CEBPA):c.345C>G (p.Pro115=)
NM_004364.5(CEBPA):c.345C>T (p.Pro115=) rs1001507122
NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser)
NM_004364.5(CEBPA):c.348C>A (p.Gly116=) rs1405076684
NM_004364.5(CEBPA):c.348C>T (p.Gly116=) rs1405076684
NM_004364.5(CEBPA):c.353C>T (p.Ala118Val) rs2145262747
NM_004364.5(CEBPA):c.354C>T (p.Ala118=)
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.357C>T (p.Val119=) rs1600023390
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.363C>A (p.Pro121=) rs1042672907
NM_004364.5(CEBPA):c.363C>T (p.Pro121=) rs1042672907
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.366G>A (p.Gly122=) rs1303743272
NM_004364.5(CEBPA):c.366G>C (p.Gly122=) rs1303743272
NM_004364.5(CEBPA):c.368G>T (p.Gly123Val) rs1600023321
NM_004364.5(CEBPA):c.36G>A (p.Arg12=) rs2145264978
NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu)
NM_004364.5(CEBPA):c.371C>T (p.Ala124Val)
NM_004364.5(CEBPA):c.372G>A (p.Ala124=)
NM_004364.5(CEBPA):c.372G>T (p.Ala124=)
NM_004364.5(CEBPA):c.375C>A (p.His125Gln)
NM_004364.5(CEBPA):c.375C>T (p.His125=) rs1365012932
NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg)
NM_004364.5(CEBPA):c.377G>C (p.Gly126Ala) rs2145262546
NM_004364.5(CEBPA):c.378G>A (p.Gly126=) rs1967186909
NM_004364.5(CEBPA):c.378G>T (p.Gly126=) rs1967186909
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.384G>A (p.Pro128=) rs938139789
NM_004364.5(CEBPA):c.384G>C (p.Pro128=) rs938139789
NM_004364.5(CEBPA):c.386C>A (p.Pro129His) rs1600023223
NM_004364.5(CEBPA):c.387C>G (p.Pro129=) rs1060504477
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.399C>T (p.Cys133=) rs2145262379
NM_004364.5(CEBPA):c.39C>T (p.Pro13=) rs1015459376
NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro)
NM_004364.5(CEBPA):c.405C>T (p.Ala135=)
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.411C>T (p.Gly137=)
NM_004364.5(CEBPA):c.414C>T (p.Tyr138=)
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.417G>A (p.Leu139=)
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.420C>T (p.Asp140=) rs2145262231
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser) rs1408671093
NM_004364.5(CEBPA):c.421G>C (p.Gly141Arg) 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.438G>A (p.Leu146=) rs2145262115
NM_004364.5(CEBPA):c.438G>C (p.Leu146=)
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.441C>T (p.Tyr147=) rs2145262085
NM_004364.5(CEBPA):c.442G>A (p.Glu148Lys) rs1388478228
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) 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.450C>A (p.Val150=) rs2145262031
NM_004364.5(CEBPA):c.450C>T (p.Val150=) rs2145262031
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.453G>A (p.Gly151=) rs2145262006
NM_004364.5(CEBPA):c.453G>T (p.Gly151=) rs2145262006
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.459G>C (p.Pro153=) rs779373951
NM_004364.5(CEBPA):c.461C>T (p.Ala154Val)
NM_004364.5(CEBPA):c.462G>A (p.Ala154=) rs1481499354
NM_004364.5(CEBPA):c.466C>A (p.Arg156=) rs1267025311
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.477G>A (p.Val159=) rs2145261839
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.504T>C (p.Asp168=)
NM_004364.5(CEBPA):c.507A>G (p.Glu169=) rs1967181843
NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr)
NM_004364.5(CEBPA):c.510C>G (p.Ala170=)
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.522G>T (p.Ala174=) rs1272249243
NM_004364.5(CEBPA):c.527C>G (p.Ala176Gly) rs957167825
NM_004364.5(CEBPA):c.528C>A (p.Ala176=) rs2145261618
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.531C>T (p.Gly177=) rs1967181154
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.534C>T (p.Leu178=) rs1600022850
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>A (p.Gln182=)
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.547C>A (p.Pro183Thr) rs998501847
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.567C>T (p.Pro189=) rs2145261321
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.570G>T (p.Ser190=)
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[4] (p.191HP[4]) 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.576G>T (p.Pro192=) rs878854703
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.579C>T (p.His193=) rs1260660049
NM_004364.5(CEBPA):c.579_580insACGCAC (p.His193_Pro194insThrHis)
NM_004364.5(CEBPA):c.57G>A (p.Leu19=) rs2145264840
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.582G>T (p.Pro194=)
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.585C>T (p.His195=) rs2145261171
NM_004364.5(CEBPA):c.588G>A (p.Pro196=)
NM_004364.5(CEBPA):c.588G>C (p.Pro196=)
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu) rs1568419745
NM_004364.5(CEBPA):c.591G>A (p.Pro197=) rs1253794663
NM_004364.5(CEBPA):c.591G>T (p.Pro197=)
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.594C>A (p.Pro198=) rs1222412810
NM_004364.5(CEBPA):c.594C>G (p.Pro198=)
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.597G>T (p.Ala199=) rs1372984262
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.60dup (p.Ser21fs) rs2145264820
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.612G>A (p.Pro204=)
NM_004364.5(CEBPA):c.612G>T (p.Pro204=)
NM_004364.5(CEBPA):c.614A>G (p.His205Arg) rs1568419698
NM_004364.5(CEBPA):c.616C>A (p.Leu206Met)
NM_004364.5(CEBPA):c.621G>A (p.Gln207=) rs2145260948
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.633G>A (p.Ala211=)
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.636C>T (p.His212=)
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.63C>T (p.Ser21=)
NM_004364.5(CEBPA):c.640G>A (p.Gly214Ser)
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val) rs1967174628
NM_004364.5(CEBPA):c.645G>A (p.Gln215=) rs2145260868
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala) rs1600022240
NM_004364.5(CEBPA):c.648C>A (p.Thr216=) rs2145260857
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.658C>T (p.Leu220=) rs2145260823
NM_004364.5(CEBPA):c.660G>A (p.Leu220=) rs2145260813
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.666C>A (p.Pro222=) rs1184004794
NM_004364.5(CEBPA):c.666C>G (p.Pro222=) rs1184004794
NM_004364.5(CEBPA):c.666C>T (p.Pro222=) rs1184004794
NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp) rs2145260788
NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala)
NM_004364.5(CEBPA):c.669T>C (p.Gly223=)
NM_004364.5(CEBPA):c.66C>T (p.Pro22=)
NM_004364.5(CEBPA):c.672C>G (p.His224Gln)
NM_004364.5(CEBPA):c.674C>T (p.Pro225Leu) rs1241253530
NM_004364.5(CEBPA):c.675C>T (p.Pro225=)
NM_004364.5(CEBPA):c.678G>A (p.Thr226=) rs1600022140
NM_004364.5(CEBPA):c.678G>T (p.Thr226=)
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.684G>A (p.Pro228=) rs1199384366
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.693C>A (p.Pro231=) rs550308123
NM_004364.5(CEBPA):c.693C>T (p.Pro231=)
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.699C>T (p.Pro233=) rs2145260639
NM_004364.5(CEBPA):c.69del (p.His24fs) rs2145264731
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.705G>A (p.Pro235=) rs1600022049
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.711C>A (p.Pro237=)
NM_004364.5(CEBPA):c.711C>T (p.Pro237=)
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.714G>T (p.Ala238=)
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu) rs2145260550
NM_004364.5(CEBPA):c.717C>A (p.Pro239=)
NM_004364.5(CEBPA):c.717C>T (p.Pro239=) rs2145260544
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.720G>T (p.Ala240=) rs2145260539
NM_004364.5(CEBPA):c.722T>C (p.Leu241Pro) rs2145260532
NM_004364.5(CEBPA):c.723C>A (p.Leu241=) rs1408787997
NM_004364.5(CEBPA):c.723C>G (p.Leu241=) rs1408787997
NM_004364.5(CEBPA):c.724G>C (p.Gly242Arg)
NM_004364.5(CEBPA):c.727G>A (p.Ala243Thr) rs2145260494
NM_004364.5(CEBPA):c.729C>T (p.Ala243=) rs1248693843
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.736C>T (p.Leu246=)
NM_004364.5(CEBPA):c.73G>C (p.Ala25Pro) rs1600024440
NM_004364.5(CEBPA):c.741G>C (p.Pro247=) rs1600021917
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp) rs1967171226
NM_004364.5(CEBPA):c.743G>T (p.Gly248Val)
NM_004364.5(CEBPA):c.747T>C (p.Pro249=) rs2145260387
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.750C>A (p.Gly250=) rs1280706388
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.756G>A (p.Ala252=)
NM_004364.5(CEBPA):c.756G>C (p.Ala252=) rs571969199
NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe) rs2145260308
NM_004364.5(CEBPA):c.75G>A (p.Ala25=)
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.766C>T (p.Leu256=) rs1967170063
NM_004364.5(CEBPA):c.768G>C (p.Leu256=)
NM_004364.5(CEBPA):c.768G>T (p.Leu256=)
NM_004364.5(CEBPA):c.774C>A (p.Ala258=) rs2145260205
NM_004364.5(CEBPA):c.775G>A (p.Ala259Thr)
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly) rs746895795
NM_004364.5(CEBPA):c.777G>T (p.Ala259=) rs967066471
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.783C>T (p.Pro261=) rs777375579
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.792C>T (p.Arg264=) rs1967168365
NM_004364.5(CEBPA):c.793_794delinsAT (p.Ala265Met) rs1555742019
NM_004364.5(CEBPA):c.797del (p.Ser266fs) rs2145260029
NM_004364.5(CEBPA):c.798T>C (p.Ser266=) rs528683666
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.804C>T (p.Gly268=) rs1428722570
NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser)
NM_004364.5(CEBPA):c.80G>C (p.Ser27Thr) rs2145264644
NM_004364.5(CEBPA):c.810C>G (p.Gly270=) rs1480870823
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.819G>A (p.Lys273=) rs1600021510
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.831G>A (p.Ser277=)
NM_004364.5(CEBPA):c.831G>T (p.Ser277=) rs764419883
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.846C>T (p.Ser282=) rs2145259749
NM_004364.5(CEBPA):c.847A>C (p.Asn283His)
NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys)
NM_004364.5(CEBPA):c.84C>T (p.Ser28=) rs2145264615
NM_004364.5(CEBPA):c.850G>A (p.Glu284Lys) rs1002344182
NM_004364.5(CEBPA):c.852G>A (p.Glu284=) rs376856647
NM_004364.5(CEBPA):c.852G>T (p.Glu284Asp) rs376856647
NM_004364.5(CEBPA):c.858G>A (p.Arg286=) rs1967165387
NM_004364.5(CEBPA):c.858G>C (p.Arg286=) rs1967165387
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.861_862delinsAA (p.Val287_Arg288=) rs1600021341
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.864G>A (p.Arg288=)
NM_004364.5(CEBPA):c.864G>C (p.Arg288=) rs2145259550
NM_004364.5(CEBPA):c.866G>T (p.Arg289Leu)
NM_004364.5(CEBPA):c.867C>G (p.Arg289=) rs1285276568
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.87C>G (p.Ala29=) rs1600024411
NM_004364.5(CEBPA):c.87C>T (p.Ala29=) rs1600024411
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met) rs376093748
NM_004364.5(CEBPA):c.885G>C (p.Ala295=) rs1967164416
NM_004364.5(CEBPA):c.88G>T (p.Ala30Ser) rs1555742305
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro) rs1600021258
NM_004364.5(CEBPA):c.890G>T (p.Arg297Leu) rs1600021258
NM_004364.5(CEBPA):c.891dup (p.Lys298fs)
NM_004364.5(CEBPA):c.894G>A (p.Lys298=) rs1398534556
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.90C>T (p.Ala30=)
NM_004364.5(CEBPA):c.912G>A (p.Lys304=)
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.924G>A (p.Val308=) rs2145258970
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.927G>A (p.Glu309=)
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.939G>A (p.Lys313=) rs1600021081
NM_004364.5(CEBPA):c.93C>G (p.Phe31Leu)
NM_004364.5(CEBPA):c.943C>T (p.Leu315=)
NM_004364.5(CEBPA):c.945G>A (p.Leu315=) rs780423965
NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln)
NM_004364.5(CEBPA):c.948G>A (p.Glu316=) rs1600021056
NM_004364.5(CEBPA):c.949C>T (p.Leu317=)
NM_004364.5(CEBPA):c.94G>A (p.Gly32Ser) rs1348778034
NM_004364.5(CEBPA):c.951G>C (p.Leu317=)
NM_004364.5(CEBPA):c.952A>C (p.Thr318Pro) rs2145258767
NM_004364.5(CEBPA):c.954C>T (p.Thr318=) rs1201858503
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.960C>T (p.Asp320=) rs746447033
NM_004364.5(CEBPA):c.963T>C (p.Asn321=) rs2145258662
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.970C>T (p.Leu324=) rs2145258597
NM_004364.5(CEBPA):c.972G>C (p.Leu324=)
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser) rs781549846
NM_004364.5(CEBPA):c.978G>A (p.Lys326=)
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.987A>G (p.Glu329=) rs2145258483
NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro) rs1555741952
NM_004364.5(CEBPA):c.990G>A (p.Gln330=) rs375876732
NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys)
NM_004364.5(CEBPA):c.999C>G (p.Arg333=)
NM_004364.5(CEBPA):c.99T>C (p.Phe33=)
NM_004364.5(CEBPA):c.9G>C (p.Ser3=) rs2145265134
NM_004364.5(CEBPA):c.9G>T (p.Ser3=) rs2145265134
NM_005373.3(MPL):c.1011A>G (p.Glu337=) rs1318577614
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)
NM_005373.3(MPL):c.1017A>G (p.Lys339=)
NM_005373.3(MPL):c.1023T>C (p.Asn341=) rs554597610
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
NM_005373.3(MPL):c.1025del (p.Pro342fs) rs1286303912
NM_005373.3(MPL):c.1026A>C (p.Pro342=)
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
NM_005373.3(MPL):c.1038C>T (p.Thr346=)
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
NM_005373.3(MPL):c.105A>G (p.Ser35=) rs2153916223
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
NM_005373.3(MPL):c.1116G>A (p.Pro372=) rs781733134
NM_005373.3(MPL):c.1119T>G (p.Gly373=) rs748581599
NM_005373.3(MPL):c.1143C>T (p.Ser381=) rs2153918638
NM_005373.3(MPL):c.1145del (p.Pro382fs)
NM_005373.3(MPL):c.1158C>T (p.His386=)
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
NM_005373.3(MPL):c.1165+12C>A
NM_005373.3(MPL):c.1165+18_1165+27dup
NM_005373.3(MPL):c.1165+18del
NM_005373.3(MPL):c.1165+1G>C rs775550081
NM_005373.3(MPL):c.1166-13G>A
NM_005373.3(MPL):c.1166-14T>C
NM_005373.3(MPL):c.1166-1G>C rs2153918730
NM_005373.3(MPL):c.1166-5T>C
NM_005373.3(MPL):c.1166-6C>T rs1647059033
NM_005373.3(MPL):c.1166-9T>C
NM_005373.3(MPL):c.1167G>A (p.Val389=) rs2153918731
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
NM_005373.3(MPL):c.1176C>T (p.Pro392=)
NM_005373.3(MPL):c.1182A>C (p.Pro394=)
NM_005373.3(MPL):c.1185C>T (p.Asn395=)
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)
NM_005373.3(MPL):c.1200G>A (p.Glu400=) rs2153918759
NM_005373.3(MPL):c.1215T>C (p.His405=) rs2153918763
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) rs2153918764
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)
NM_005373.3(MPL):c.1239A>G (p.Pro413=)
NM_005373.3(MPL):c.1242G>C (p.Ser414=) rs544064034
NM_005373.3(MPL):c.1245C>A (p.Ser415=) rs1002584503
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) rs1647059649
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) rs2153918792
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
NM_005373.3(MPL):c.1251A>C (p.Ala417=)
NM_005373.3(MPL):c.1254C>G (p.Ala418=) rs1344383290
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
NM_005373.3(MPL):c.1260G>A (p.Glu420=)
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs) rs2153918800
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) rs1647060064
NM_005373.3(MPL):c.1272A>G (p.Gln424=) rs1647060081
NM_005373.3(MPL):c.1275C>G (p.Leu425=)
NM_005373.3(MPL):c.1299G>A (p.Gln433=)
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) rs2153918831
NM_005373.3(MPL):c.1308+12C>T
NM_005373.3(MPL):c.1308+2T>G
NM_005373.3(MPL):c.1308+8C>A rs376365109
NM_005373.3(MPL):c.1308+8C>G rs376365109
NM_005373.3(MPL):c.1309-18G>A
NM_005373.3(MPL):c.1309-18G>T
NM_005373.3(MPL):c.1309-19C>T
NM_005373.3(MPL):c.1309-3dup
NM_005373.3(MPL):c.1309-6G>A rs2153919199
NM_005373.3(MPL):c.1314G>C (p.Leu438=)
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
NM_005373.3(MPL):c.1320G>C (p.Pro440=) rs2153919217
NM_005373.3(MPL):c.1320del (p.Pro441fs)
NM_005373.3(MPL):c.1326C>G (p.Leu442=)
NM_005373.3(MPL):c.1329G>T (p.Gly443=)
NM_005373.3(MPL):c.1338A>G (p.Gly446=) rs530475779
NM_005373.3(MPL):c.1341G>C (p.Gly447=)
NM_005373.3(MPL):c.1345C>T (p.Leu449=) rs2153919239
NM_005373.3(MPL):c.1346dup (p.Glu450fs) rs2153919240
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) rs1647073222
NM_005373.3(MPL):c.1351C>T (p.Leu451=)
NM_005373.3(MPL):c.1356C>T (p.Arg452=) rs1647073349
NM_005373.3(MPL):c.1359G>A (p.Pro453=) rs1262936822
NM_005373.3(MPL):c.1365T>C (p.Ser455=)
NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs)
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
NM_005373.3(MPL):c.1371C>T (p.Tyr457=) rs2153919254
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) rs1469739934
NM_005373.3(MPL):c.1381C>T (p.Leu461=) rs2153919261
NM_005373.3(MPL):c.1389C>T (p.Ala463=)
NM_005373.3(MPL):c.1395C>T (p.Leu465=)
NM_005373.3(MPL):c.1398C>T (p.Asn466=)
NM_005373.3(MPL):c.1401C>T (p.Gly467=) rs2153919286
NM_005373.3(MPL):c.1407C>T (p.Thr469=) rs2153919290
NM_005373.3(MPL):c.1419C>T (p.Pro473=)
NM_005373.3(MPL):c.1428G>T (p.Ser476=) rs2153919294
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)
NM_005373.3(MPL):c.1434G>A (p.Ser478=)
NM_005373.3(MPL):c.1434G>C (p.Ser478=) rs916392437
NM_005373.3(MPL):c.1440A>G (p.Pro480=)
NM_005373.3(MPL):c.1452G>A (p.Glu484=)
NM_005373.3(MPL):c.1461C>A (p.Thr487=)
NM_005373.3(MPL):c.1461C>G (p.Thr487=)
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.3(MPL):c.1463_1466dup (p.Ala490fs) rs2153919318
NM_005373.3(MPL):c.1464G>A (p.Glu488=)
NM_005373.3(MPL):c.1468+10G>A rs2153919323
NM_005373.3(MPL):c.1468+10G>T
NM_005373.3(MPL):c.1468+11C>A
NM_005373.3(MPL):c.1468+14C>G
NM_005373.3(MPL):c.1468+14C>T
NM_005373.3(MPL):c.1468+1G>A
NM_005373.3(MPL):c.1468+2T>C rs1057517761
NM_005373.3(MPL):c.1468+6dup
NM_005373.3(MPL):c.1468+7C>A
NM_005373.3(MPL):c.1468+7C>G rs1360335718
NM_005373.3(MPL):c.1468+7C>T
NM_005373.3(MPL):c.1468+9A>G
NM_005373.3(MPL):c.1469-16C>T
NM_005373.3(MPL):c.1469-17C>A
NM_005373.3(MPL):c.1469-17C>T
NM_005373.3(MPL):c.1469-1G>T rs771729218
NM_005373.3(MPL):c.1469-2A>T
NM_005373.3(MPL):c.1469-7C>G rs202232618
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs) rs1647077635
NM_005373.3(MPL):c.147T>C (p.Thr49=)
NM_005373.3(MPL):c.1480T>C (p.Leu494=)
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) rs2153919403
NM_005373.3(MPL):c.1491T>C (p.Ala497=)
NM_005373.3(MPL):c.1506G>A (p.Leu502=)
NM_005373.3(MPL):c.150C>T (p.Cys50=)
NM_005373.3(MPL):c.1523dup (p.Leu510fs)
NM_005373.3(MPL):c.1524G>A (p.Leu508=)
NM_005373.3(MPL):c.1527C>A (p.Gly509=) rs1570472144
NM_005373.3(MPL):c.1527C>T (p.Gly509=)
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
NM_005373.3(MPL):c.1532_1535del (p.Leu511fs) rs1332801952
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.1546C>T (p.Gln516Ter) rs2153919438
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) rs1392072769
NM_005373.3(MPL):c.1563C>T (p.Tyr521=) rs1392072769
NM_005373.3(MPL):c.1565+11C>T
NM_005373.3(MPL):c.1565+12G>A
NM_005373.3(MPL):c.1565+12G>C
NM_005373.3(MPL):c.1565+18C>A
NM_005373.3(MPL):c.1565+19dup
NM_005373.3(MPL):c.1566-14T>C
NM_005373.3(MPL):c.1566-15T>C
NM_005373.3(MPL):c.1566-16C>T
NM_005373.3(MPL):c.1566-19T>C
NM_005373.3(MPL):c.1566-3del rs780125200
NM_005373.3(MPL):c.1566-6C>T
NM_005373.3(MPL):c.1566-7C>T rs375344403
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
NM_005373.3(MPL):c.1572G>C (p.Leu524=) rs2153919916
NM_005373.3(MPL):c.1584G>A (p.Leu528=) rs1380383088
NM_005373.3(MPL):c.159T>C (p.Asp53=)
NM_005373.3(MPL):c.1603C>T (p.Leu535=)
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
NM_005373.3(MPL):c.1626C>T (p.Tyr542=)
NM_005373.3(MPL):c.162G>A (p.Glu54=)
NM_005373.3(MPL):c.1635C>T (p.Asp545=) rs374221815
NM_005373.3(MPL):c.1640C>T (p.Ala547Val)
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
NM_005373.3(MPL):c.1647G>A (p.Leu549=)
NM_005373.3(MPL):c.1653+10C>T rs2153919956
NM_005373.3(MPL):c.1653+13C>T
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1653+20_1653+21del
NM_005373.3(MPL):c.1653+7G>A rs2153919952
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
NM_005373.3(MPL):c.1654-11A>G
NM_005373.3(MPL):c.1654-20C>T
NM_005373.3(MPL):c.1654-5C>A rs1020318873
NM_005373.3(MPL):c.1654-5C>T rs1020318873
NM_005373.3(MPL):c.1654-9C>T rs2153920018
NM_005373.3(MPL):c.1662C>T (p.Ala554=)
NM_005373.3(MPL):c.1665A>C (p.Thr555=)
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
NM_005373.3(MPL):c.1671dup (p.Asp558fs) rs1647100516
NM_005373.3(MPL):c.1677C>T (p.Thr559=)
NM_005373.3(MPL):c.1678del (p.Cys560fs)
NM_005373.3(MPL):c.1680T>C (p.Cys560=)
NM_005373.3(MPL):c.1683A>G (p.Glu561=) rs202022473
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)
NM_005373.3(MPL):c.1686A>G (p.Glu562=)
NM_005373.3(MPL):c.1701C>T (p.Leu567=)
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
NM_005373.3(MPL):c.1719G>A (p.Lys573=) rs774393112
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
NM_005373.3(MPL):c.1725dup (p.Glu576fs)
NM_005373.3(MPL):c.1728G>A (p.Glu576=)
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
NM_005373.3(MPL):c.1743C>G (p.Pro581=)
NM_005373.3(MPL):c.1744C>G (p.Leu582Val) rs2153920065
NM_005373.3(MPL):c.1745del (p.Leu582fs)
NM_005373.3(MPL):c.1748_1749del (p.Cys583fs)
NM_005373.3(MPL):c.1761C>T (p.Ala587=) rs1647101111
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
NM_005373.3(MPL):c.1782G>A (p.Leu594=)
NM_005373.3(MPL):c.1795C>T (p.Leu599=)
NM_005373.3(MPL):c.1809C>G (p.Pro603=) rs374553815
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
NM_005373.3(MPL):c.1810dup (p.Leu604fs)
NM_005373.3(MPL):c.1812G>C (p.Leu604=)
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) rs1402847914
NM_005373.3(MPL):c.1815T>C (p.Ser605=)
NM_005373.3(MPL):c.1818G>A (p.Val606=) rs2153920103
NM_005373.3(MPL):c.1827C>A (p.Pro609=)
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala)
NM_005373.3(MPL):c.1842G>A (p.Gly614=)
NM_005373.3(MPL):c.1857C>T (p.Thr619=) rs2153920125
NM_005373.3(MPL):c.1860C>T (p.His620=)
NM_005373.3(MPL):c.1893T>C (p.Tyr631=)
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.1905T>C (p.Pro635=)
NM_005373.3(MPL):c.190C>T (p.Gln64Ter) rs2153916273
NM_005373.3(MPL):c.192G>A (p.Gln64=)
NM_005373.3(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.3(MPL):c.198G>A (p.Leu66=) rs1647007308
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
NM_005373.3(MPL):c.207C>T (p.Tyr69=) rs2153916283
NM_005373.3(MPL):c.209del (p.Pro70fs)
NM_005373.3(MPL):c.212+10G>A
NM_005373.3(MPL):c.212+17G>A
NM_005373.3(MPL):c.212+17G>T
NM_005373.3(MPL):c.212+1G>A rs142565191
NM_005373.3(MPL):c.212+8C>T
NM_005373.3(MPL):c.213-12C>T
NM_005373.3(MPL):c.213-1G>A
NM_005373.3(MPL):c.213-20G>C
NM_005373.3(MPL):c.213-6C>T rs1647009547
NM_005373.3(MPL):c.213-7C>T rs2153916416
NM_005373.3(MPL):c.214G>T (p.Glu72Ter) rs1406715863
NM_005373.3(MPL):c.219G>A (p.Lys73=)
NM_005373.3(MPL):c.224G>A (p.Arg75His)
NM_005373.3(MPL):c.234C>G (p.Pro78=)
NM_005373.3(MPL):c.234C>T (p.Pro78=)
NM_005373.3(MPL):c.236del (p.Leu79fs)
NM_005373.3(MPL):c.252del (p.Met84fs) rs2153916450
NM_005373.3(MPL):c.255C>T (p.Pro85=) rs1557463066
NM_005373.3(MPL):c.264A>T (p.Gly88=)
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.278_285dup (p.Pro96fs)
NM_005373.3(MPL):c.279C>T (p.Cys93=) rs2153916471
NM_005373.3(MPL):c.27C>T (p.Val9=) rs1343948119
NM_005373.3(MPL):c.305G>A (p.Arg102His) rs28928907
NM_005373.3(MPL):c.306T>A (p.Arg102=) rs140354935
NM_005373.3(MPL):c.306T>C (p.Arg102=)
NM_005373.3(MPL):c.308del (p.Leu103fs) rs1361003749
NM_005373.3(MPL):c.309C>A (p.Leu103=)
NM_005373.3(MPL):c.311del (p.Phe104fs) rs2153916495
NM_005373.3(MPL):c.313_316del (p.Phe105fs) rs2153916498
NM_005373.3(MPL):c.315T>C (p.Phe105=) rs2153916507
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.333G>A (p.Val111=) rs1570464811
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
NM_005373.3(MPL):c.339T>C (p.Asn113=)
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
NM_005373.3(MPL):c.366G>A (p.Gln122=)
NM_005373.3(MPL):c.367C>A (p.Arg123=)
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.388_389del (p.Val130fs)
NM_005373.3(MPL):c.391+13C>T
NM_005373.3(MPL):c.391+18G>A
NM_005373.3(MPL):c.391+19T>C
NM_005373.3(MPL):c.391+19T>G
NM_005373.3(MPL):c.392-13G>C
NM_005373.3(MPL):c.392-15_392-14del
NM_005373.3(MPL):c.392-16C>T
NM_005373.3(MPL):c.392-20G>A
NM_005373.3(MPL):c.392-8G>C
NM_005373.3(MPL):c.392-8G>T
NM_005373.3(MPL):c.392-9T>C rs2153916670
NM_005373.3(MPL):c.399G>A (p.Pro133=) rs768283382
NM_005373.3(MPL):c.402T>C (p.Ala134=)
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
NM_005373.3(MPL):c.407C>A (p.Pro136His) rs764904424
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)
NM_005373.3(MPL):c.408C>A (p.Pro136=) rs146579984
NM_005373.3(MPL):c.408C>G (p.Pro136=) rs146579984
NM_005373.3(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.417C>T (p.Ile139=)
NM_005373.3(MPL):c.417dup (p.Lys140fs)
NM_005373.3(MPL):c.420G>A (p.Lys140=) rs2153916692
NM_005373.3(MPL):c.423C>T (p.Ala141=) rs2153916694
NM_005373.3(MPL):c.42C>T (p.Leu14=) rs2153916109
NM_005373.3(MPL):c.432G>A (p.Gly144=)
NM_005373.3(MPL):c.432G>C (p.Gly144=) rs2153916702
NM_005373.3(MPL):c.432dup (p.Ser145fs)
NM_005373.3(MPL):c.444G>T (p.Gly148=)
NM_005373.3(MPL):c.445G>A (p.Glu149Lys) rs267598615
NM_005373.3(MPL):c.447A>G (p.Glu149=) rs2153916718
NM_005373.3(MPL):c.455del (p.Ile152fs) rs1647014461
NM_005373.3(MPL):c.459C>T (p.Ser153=)
NM_005373.3(MPL):c.465G>A (p.Glu155=)
NM_005373.3(MPL):c.478G>T (p.Glu160Ter) rs768536266
NM_005373.3(MPL):c.492C>T (p.Phe164=) rs1343497787
NM_005373.3(MPL):c.493C>T (p.Leu165=)
NM_005373.3(MPL):c.501C>T (p.Tyr167=) rs1647014738
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
NM_005373.3(MPL):c.51T>G (p.Pro17=) rs2153916114
NM_005373.3(MPL):c.525T>C (p.Asp175=)
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
NM_005373.3(MPL):c.531G>A (p.Lys177=) rs2153916772
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
NM_005373.3(MPL):c.540T>C (p.Thr180=) rs2153916776
NM_005373.3(MPL):c.549G>T (p.Thr183=)
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
NM_005373.3(MPL):c.561G>A (p.Leu187=) rs1570465392
NM_005373.3(MPL):c.567C>T (p.Ala189=)
NM_005373.3(MPL):c.576C>T (p.Thr192=) rs2153916800
NM_005373.3(MPL):c.579C>T (p.Cys193=) rs747962998
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)
NM_005373.3(MPL):c.585T>C (p.Pro195=)
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
NM_005373.3(MPL):c.603_606del (p.His201fs) rs1438181248
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
NM_005373.3(MPL):c.639G>A (p.Gln213=)
NM_005373.3(MPL):c.655dup (p.Gln219fs) rs1647016174
NM_005373.3(MPL):c.663A>G (p.Gly221=) rs1647016206
NM_005373.3(MPL):c.669G>A (p.Lys223=)
NM_005373.3(MPL):c.684T>C (p.Ser228=) rs766536759
NM_005373.3(MPL):c.690+10C>G rs1160632727
NM_005373.3(MPL):c.690+15T>C
NM_005373.3(MPL):c.690+19G>A
NM_005373.3(MPL):c.690+20C>T
NM_005373.3(MPL):c.690+2T>A rs2153916885
NM_005373.3(MPL):c.690+2T>C
NM_005373.3(MPL):c.690+7T>C
NM_005373.3(MPL):c.690+8_690+12dup
NM_005373.3(MPL):c.691-12T>A
NM_005373.3(MPL):c.691-16G>C
NM_005373.3(MPL):c.691-17G>A
NM_005373.3(MPL):c.691-4C>T
NM_005373.3(MPL):c.691-7T>C
NM_005373.3(MPL):c.696A>G (p.Ser232=)
NM_005373.3(MPL):c.696A>T (p.Ser232=) rs767614158
NM_005373.3(MPL):c.69C>A (p.Val23=) rs2153916126
NM_005373.3(MPL):c.6C>T (p.Pro2=) rs2153916091
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)
NM_005373.3(MPL):c.723C>T (p.Cys241=) rs2153917030
NM_005373.3(MPL):c.744_747dup (p.Asn250fs) rs587778518
NM_005373.3(MPL):c.768G>A (p.Leu256=) rs1570465882
NM_005373.3(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.3(MPL):c.774C>T (p.Ser258=) rs746721066
NM_005373.3(MPL):c.783T>C (p.Asp261=) rs749648068
NM_005373.3(MPL):c.79+10A>C
NM_005373.3(MPL):c.79+15G>A
NM_005373.3(MPL):c.79+15G>C
NM_005373.3(MPL):c.79+16G>T
NM_005373.3(MPL):c.79+17G>A
NM_005373.3(MPL):c.79+17G>T
NM_005373.3(MPL):c.79+18T>C
NM_005373.3(MPL):c.79+19G>A
NM_005373.3(MPL):c.79+1G>A
NM_005373.3(MPL):c.79+1G>T rs1647004958
NM_005373.3(MPL):c.79+20G>A
NM_005373.3(MPL):c.79+7T>C rs2153916135
NM_005373.3(MPL):c.79+8G>C
NM_005373.3(MPL):c.79+9C>G
NM_005373.3(MPL):c.79+9C>T
NM_005373.3(MPL):c.793del (p.Leu265fs) rs1647020172
NM_005373.3(MPL):c.80-11C>A
NM_005373.3(MPL):c.80-15C>T
NM_005373.3(MPL):c.80-17C>T
NM_005373.3(MPL):c.80-19C>T
NM_005373.3(MPL):c.80-7T>C rs2153916207
NM_005373.3(MPL):c.80-9G>T rs2153916206
NM_005373.3(MPL):c.807G>A (p.Trp269Ter) rs1647020318
NM_005373.3(MPL):c.837C>T (p.Asp279=)
NM_005373.3(MPL):c.840del (p.Pro281fs)
NM_005373.3(MPL):c.842del (p.Pro281fs) rs2153917100
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.853+10C>G
NM_005373.3(MPL):c.853+10C>T
NM_005373.3(MPL):c.853+10del
NM_005373.3(MPL):c.853+15G>A
NM_005373.3(MPL):c.853+18T>C
NM_005373.3(MPL):c.853+18T>G
NM_005373.3(MPL):c.853+18del
NM_005373.3(MPL):c.853+7C>A rs2153917115
NM_005373.3(MPL):c.854-14T>C
NM_005373.3(MPL):c.854-15C>T
NM_005373.3(MPL):c.854-1G>A
NM_005373.3(MPL):c.870A>G (p.Gln290=)
NM_005373.3(MPL):c.873C>A (p.Cys291Ter)
NM_005373.3(MPL):c.876T>C (p.Phe292=)
NM_005373.3(MPL):c.879C>G (p.Thr293=)
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)
NM_005373.3(MPL):c.921C>T (p.Asp307=) rs764243911
NM_005373.3(MPL):c.923A>T (p.His308Leu)
NM_005373.3(MPL):c.933C>T (p.Ser311=) rs2153917221
NM_005373.3(MPL):c.939C>G (p.Gly313=)
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
NM_005373.3(MPL):c.94del (p.Ala32fs) rs2153916214
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
NM_005373.3(MPL):c.957G>A (p.Arg319=)
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
NM_005373.3(MPL):c.963G>C (p.Arg321=)
NM_005373.3(MPL):c.96A>C (p.Ala32=)
NM_005373.3(MPL):c.96A>G (p.Ala32=) rs1647006420
NM_005373.3(MPL):c.972_973del (p.Asp326fs) rs2153917276
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005373.3(MPL):c.980+14T>C
NM_005373.3(MPL):c.980+16C>T
NM_005373.3(MPL):c.980+2T>A rs1647023010
NM_005373.3(MPL):c.981-11C>T
NM_005373.3(MPL):c.981-8G>A
NM_005373.3(MPL):c.987C>A (p.Pro329=) rs144491350
NM_005373.3(MPL):c.987C>G (p.Pro329=)
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598
NM_005373.3(MPL):c.999C>T (p.Asn333=) rs1053884539
NM_005373.3(MPL):c.9C>G (p.Ser3=)
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs) rs2135020617
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter) rs1954414269
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
NM_207122.2(EXT2):c.1013del (p.Gly338fs) rs2135020654
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr) rs751598619
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg) rs141035971
NM_207122.2(EXT2):c.1024del (p.Val342fs) rs1954415156
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met) rs1954415349
NM_207122.2(EXT2):c.1032del (p.Ile344fs) rs1590570953
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter)
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=) rs2135020895
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe) rs747302075
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu) rs1954415964
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly) rs2135020999
NM_207122.2(EXT2):c.1074G>A (p.Trp358Ter) rs1450980907
NM_207122.2(EXT2):c.1079+13T>C
NM_207122.2(EXT2):c.1079+17A>G
NM_207122.2(EXT2):c.1079+1G>A rs1369420640
NM_207122.2(EXT2):c.1079+1G>T rs1369420640
NM_207122.2(EXT2):c.1080-14G>A
NM_207122.2(EXT2):c.1080-1G>A rs2135029007
NM_207122.2(EXT2):c.1080-1G>T rs2135029007
NM_207122.2(EXT2):c.1080-2A>G rs558968332
NM_207122.2(EXT2):c.1080-2del rs2135029005
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter)
NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs)
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) rs750547674
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs) rs1954470017
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
NM_207122.2(EXT2):c.1132C>T (p.Gln378Ter) rs1555006433
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter) rs1954470670
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter) rs753083913
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.1167G>A (p.Gln389=) rs2135029434
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs) rs1954471038
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) rs570580540
NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs)
NM_207122.2(EXT2):c.1173+17T>A
NM_207122.2(EXT2):c.1173+2T>A rs1565205890
NM_207122.2(EXT2):c.1173+8G>A
NM_207122.2(EXT2):c.1173+9C>T
NM_207122.2(EXT2):c.1174-14T>A
NM_207122.2(EXT2):c.1174-19A>G
NM_207122.2(EXT2):c.1174-2A>G
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
NM_207122.2(EXT2):c.117C>T (p.Ala39=) rs2134965644
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) rs1191238988
NM_207122.2(EXT2):c.1186_1192del (p.Trp396fs)
NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter) rs750542485
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) rs2135127641
NM_207122.2(EXT2):c.1197C>G (p.Tyr399Ter)
NM_207122.2(EXT2):c.1201del (p.Gln401fs) rs2135127698
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter) rs1955075568
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=) rs1315721028
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.1233G>A (p.Leu411=)
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) rs1448103584
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
NM_207122.2(EXT2):c.1245del (p.Asn415fs)
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter) rs1955076595
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter) rs2135128105
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter) rs1403873034
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) rs1954079044
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
NM_207122.2(EXT2):c.1305+14A>G
NM_207122.2(EXT2):c.1306-13T>C rs749657208
NM_207122.2(EXT2):c.1306-14C>A
NM_207122.2(EXT2):c.1306-14C>T
NM_207122.2(EXT2):c.1306-8T>C
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
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.1338C>T (p.Leu446=) rs1955474586
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
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.143A>T (p.His48Leu) rs1590547374
NM_207122.2(EXT2):c.1440C>T (p.Pro480=) rs2135185399
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
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.147T>G (p.Ser49=)
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
NM_207122.2(EXT2):c.1489_1495+12del
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1495+12T>C
NM_207122.2(EXT2):c.1495+7dup rs1376958816
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1496-17C>A rs1370105753
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
NM_207122.2(EXT2):c.1565G>A (p.Arg522His) rs1271452312
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
NM_207122.2(EXT2):c.1575T>C (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter) rs2135204843
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) rs1955590072
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
NM_207122.2(EXT2):c.1627dup (p.Met543fs) rs1590647371
NM_207122.2(EXT2):c.1662+17_1662+18del
NM_207122.2(EXT2):c.1662+18A>G
NM_207122.2(EXT2):c.1662+1G>C
NM_207122.2(EXT2):c.1662+20T>C
NM_207122.2(EXT2):c.1662+4A>C
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
NM_207122.2(EXT2):c.1663-14G>A
NM_207122.2(EXT2):c.1663-1G>A
NM_207122.2(EXT2):c.1669C>A (p.Arg557=) rs768532662
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.1683C>T (p.Asp561=) rs1955909250
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.1698C>A (p.Tyr566Ter)
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
NM_207122.2(EXT2):c.1731dup (p.Asn578fs)
NM_207122.2(EXT2):c.1740G>A (p.Trp580Ter) rs1564986609
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) rs1564986609
NM_207122.2(EXT2):c.1743G>A (p.Lys581=) rs772721212
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
NM_207122.2(EXT2):c.1764T>C (p.Asn588=) rs2135259732
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
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.1803C>T (p.His601=) rs1590666591
NM_207122.2(EXT2):c.1806+16C>A
NM_207122.2(EXT2):c.1806+5G>C
NM_207122.2(EXT2):c.1806+9G>T rs2135260004
NM_207122.2(EXT2):c.1806+9del rs372901342
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) rs1590667793
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
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.18G>A (p.Lys6=) rs375300731
NM_207122.2(EXT2):c.1900C>T (p.Leu634=) rs1955932950
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
NM_207122.2(EXT2):c.192T>C (p.Arg64=) rs2134966282
NM_207122.2(EXT2):c.1930del (p.Ile644fs)
NM_207122.2(EXT2):c.1935+19C>T
NM_207122.2(EXT2):c.1935+1G>T
NM_207122.2(EXT2):c.1935+3A>C
NM_207122.2(EXT2):c.1936-10C>T
NM_207122.2(EXT2):c.1936-12C>T
NM_207122.2(EXT2):c.1936-14T>C rs2135267767
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.2018+17C>A
NM_207122.2(EXT2):c.2019-2A>G
NM_207122.2(EXT2):c.2019-2del
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) rs753223281
NM_207122.2(EXT2):c.203_258del (p.Val68fs) rs1954081053
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
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.2103C>T (p.Tyr701=)
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
NM_207122.2(EXT2):c.211del (p.Leu71fs) rs1954081372
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly) rs769426160
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
NM_207122.2(EXT2):c.2130G>A (p.Lys710=) rs2135284224
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.244del (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.244dup (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.245dup (p.Asp82fs) rs1555002460
NM_207122.2(EXT2):c.248_249del (p.Leu83fs)
NM_207122.2(EXT2):c.257_263del (p.Arg86fs) rs1954082764
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.282T>A (p.Tyr94Ter) rs2134967046
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.306C>T (p.Asn102=) rs2134967175
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.315G>A (p.Lys105=)
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) rs886048274
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter) rs767802942
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) rs1565196489
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.383_390del (p.Arg128fs)
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) rs1954086080
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
NM_207122.2(EXT2):c.398_401dup (p.Met135fs) rs886041272
NM_207122.2(EXT2):c.398_402del (p.Leu133fs) rs2134967717
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
NM_207122.2(EXT2):c.423C>T (p.Asp141=) rs199916419
NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter) rs1555002543
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.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
NM_207122.2(EXT2):c.459_462del (p.Val154fs) rs1954088614
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.482del (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
NM_207122.2(EXT2):c.516del (p.Ala173fs) rs2134968744
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.520A>T (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
NM_207122.2(EXT2):c.536+10A>T rs748432706
NM_207122.2(EXT2):c.536+14A>G
NM_207122.2(EXT2):c.536+15T>A
NM_207122.2(EXT2):c.536+17C>A
NM_207122.2(EXT2):c.536+19G>C
NM_207122.2(EXT2):c.536+1G>A rs1954091762
NM_207122.2(EXT2):c.536+1G>C rs1954091762
NM_207122.2(EXT2):c.536+20C>G
NM_207122.2(EXT2):c.536+7C>G rs755324495
NM_207122.2(EXT2):c.537-4_561del rs2134971478
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter) rs886039565
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter) rs2134971524
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu) rs563383543
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del) rs761364688
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del) rs1954106603
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
NM_207122.2(EXT2):c.590del (p.Pro197fs) rs1565197245
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser) rs1954107822
NM_207122.2(EXT2):c.602_603del (p.Thr201fs) rs1954107890
NM_207122.2(EXT2):c.610del (p.Asp204fs)
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu) rs2134965342
NM_207122.2(EXT2):c.620_626+158del rs2134971964
NM_207122.2(EXT2):c.626+14T>C
NM_207122.2(EXT2):c.626+19G>A rs370903897
NM_207122.2(EXT2):c.626+1G>A rs1057521132
NM_207122.2(EXT2):c.626+1G>T rs1057521132
NM_207122.2(EXT2):c.626+2T>G rs1954108778
NM_207122.2(EXT2):c.626+2_626+5del rs1954108641
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.627-18A>G
NM_207122.2(EXT2):c.627-2A>G rs1064793854
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
NM_207122.2(EXT2):c.64_68del (p.His22fs) rs2134965356
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
NM_207122.2(EXT2):c.659G>A (p.Trp220Ter)
NM_207122.2(EXT2):c.65A>G (p.His22Arg) rs1954077075
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
NM_207122.2(EXT2):c.668G>C (p.Arg223Pro) rs764379119
NM_207122.2(EXT2):c.669G>A (p.Arg223=) rs141410374
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter) rs1565199251
NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter)
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.680A>G (p.Asp227Gly) rs2134984829
NM_207122.2(EXT2):c.680A>T (p.Asp227Val) rs2134984829
NM_207122.2(EXT2):c.687C>T (p.Ser229=) rs2134984902
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) rs1319747883
NM_207122.2(EXT2):c.69A>T (p.Arg23=) rs2134965405
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
NM_207122.2(EXT2):c.705_706del (p.Leu236fs) rs2134985142
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
NM_207122.2(EXT2):c.720G>A (p.Val240=)
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
NM_207122.2(EXT2):c.729del (p.Glu244fs) rs2134985455
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.743+1G>A rs886039567
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-10dup
NM_207122.2(EXT2):c.744-12T>C
NM_207122.2(EXT2):c.744-16T>G
NM_207122.2(EXT2):c.744-1G>A rs1954372994
NM_207122.2(EXT2):c.744-20C>T rs2135014483
NM_207122.2(EXT2):c.744-2A>C rs864309638
NM_207122.2(EXT2):c.744-8C>T
NM_207122.2(EXT2):c.750del (p.Gln251fs) rs2135014654
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) rs1954373394
NM_207122.2(EXT2):c.756C>G (p.Tyr252Ter)
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.779del (p.Gly260fs) rs1410604006
NM_207122.2(EXT2):c.783_784del (p.His262fs) rs2135014852
NM_207122.2(EXT2):c.785dup (p.His262fs) rs1555005328
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) rs1954375189
NM_207122.2(EXT2):c.82_143del (p.Thr28fs)
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
NM_207122.2(EXT2):c.84C>T (p.Thr28=) rs1954077511
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.859del (p.Thr287fs)
NM_207122.2(EXT2):c.869C>A (p.Ser290Ter)
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) rs886039744
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.89del (p.Phe30fs) rs2134965481
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
NM_207122.2(EXT2):c.913del (p.Val305fs) rs1954378294
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly) rs1260423517
NM_207122.2(EXT2):c.928C>T (p.Gln310Ter) rs1555005398
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.937C>T (p.Gln313Ter) rs763718818
NM_207122.2(EXT2):c.939+11T>C
NM_207122.2(EXT2):c.939+14A>C
NM_207122.2(EXT2):c.939+1G>T
NM_207122.2(EXT2):c.939+1del rs2135015765
NM_207122.2(EXT2):c.940-13del rs765515424
NM_207122.2(EXT2):c.940-14T>G
NM_207122.2(EXT2):c.940-15T>C
NM_207122.2(EXT2):c.940-2A>G rs1954411419
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
NM_207122.2(EXT2):c.951C>T (p.Phe317=) rs2135020214
NM_207122.2(EXT2):c.952T>C (p.Cys318Arg) rs2135020224
NM_207122.2(EXT2):c.952_964del (p.Cys318fs) rs1954411719
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.956_957del (p.Val319fs) rs1590570665
NM_207122.2(EXT2):c.960del (p.Leu321fs) rs1954412043
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
NM_207122.2(EXT2):c.969A>G (p.Gly323=)
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.