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)
|
|
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NM_207122.2(EXT2):c.454_457del (p.Val154fs)
|
rs864309636
|
|
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
|
|
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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=)
|
|
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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)
|
|
|