NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)
|
rs11205
|
0.41131
|
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His)
|
rs25640
|
0.38375
|
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)
|
rs11539471
|
0.14167
|
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=)
|
rs12714
|
0.03803
|
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val)
|
rs28943594
|
0.03090
|
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=)
|
rs2560722
|
0.02288
|
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)
|
rs1143650
|
0.02248
|
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn)
|
rs28943589
|
0.02134
|
NM_000414.4(HSD17B4):c.740-16T>G
|
rs35416500
|
0.00789
|
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)
|
rs150677536
|
0.00351
|
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=)
|
rs57972893
|
0.00273
|
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)
|
rs28943592
|
0.00265
|
NM_000414.4(HSD17B4):c.715-13C>T
|
rs185869017
|
0.00213
|
NM_000414.4(HSD17B4):c.281-7A>G
|
rs35201279
|
0.00189
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
0.00123
|
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)
|
rs145728297
|
0.00036
|
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val)
|
rs137946207
|
0.00034
|
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)
|
rs192301957
|
0.00034
|
NM_000414.4(HSD17B4):c.1503+12T>G
|
rs111239597
|
0.00033
|
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)
|
rs73790880
|
0.00030
|
NM_000414.4(HSD17B4):c.1261+14A>G
|
rs371682983
|
0.00029
|
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)
|
rs35281104
|
0.00029
|
NM_000414.4(HSD17B4):c.822G>A (p.Lys274=)
|
rs141216594
|
0.00029
|
NM_000414.4(HSD17B4):c.622+15T>A
|
rs201280286
|
0.00024
|
NM_000414.4(HSD17B4):c.1768-19T>G
|
rs542422357
|
0.00023
|
NM_000414.4(HSD17B4):c.2122-16C>T
|
rs199680208
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)
|
rs369449821
|
0.00019
|
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=)
|
rs148189286
|
0.00019
|
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp)
|
rs201455193
|
0.00016
|
NM_000414.4(HSD17B4):c.1767+8T>C
|
rs190659146
|
0.00014
|
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)
|
rs142889209
|
0.00013
|
NM_000414.4(HSD17B4):c.1204G>A (p.Ala402Thr)
|
rs780430704
|
0.00013
|
NM_000414.4(HSD17B4):c.588G>A (p.Ala196=)
|
rs748937758
|
0.00013
|
NM_000414.4(HSD17B4):c.1058C>T (p.Ala353Val)
|
rs138560200
|
0.00012
|
NM_000414.4(HSD17B4):c.1199A>G (p.Asn400Ser)
|
rs374161061
|
0.00012
|
NM_000414.4(HSD17B4):c.1262G>A (p.Gly421Glu)
|
rs139500402
|
0.00011
|
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)
|
rs771922933
|
0.00011
|
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)
|
rs149283499
|
0.00011
|
NM_000414.4(HSD17B4):c.1398T>G (p.Ser466=)
|
rs746787900
|
0.00010
|
NM_000414.4(HSD17B4):c.1574-19G>A
|
rs371700181
|
0.00010
|
NM_000414.4(HSD17B4):c.349+13T>C
|
rs200513633
|
0.00010
|
NM_000414.4(HSD17B4):c.628G>A (p.Val210Met)
|
rs1017610439
|
0.00010
|
NM_000414.4(HSD17B4):c.1209+12A>G
|
rs779377798
|
0.00009
|
NM_000414.4(HSD17B4):c.1759C>G (p.Gln587Glu)
|
rs138507337
|
0.00009
|
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn)
|
rs142527052
|
0.00009
|
NM_000414.4(HSD17B4):c.330G>A (p.Arg110=)
|
rs181010091
|
0.00009
|
NM_000414.4(HSD17B4):c.112+11G>A
|
rs775970480
|
0.00007
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
NM_000414.4(HSD17B4):c.2041A>G (p.Lys681Glu)
|
rs139348491
|
0.00006
|
NM_000414.4(HSD17B4):c.228G>A (p.Val76=)
|
rs1433204886
|
0.00006
|
NM_000414.4(HSD17B4):c.303-11T>A
|
rs767897278
|
0.00006
|
NM_000414.4(HSD17B4):c.622+5G>A
|
rs536487449
|
0.00006
|
NM_000414.4(HSD17B4):c.1000C>G (p.Pro334Ala)
|
rs143750360
|
0.00005
|
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe)
|
rs372898042
|
0.00005
|
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)
|
rs184492796
|
0.00005
|
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro)
|
rs199659543
|
0.00005
|
NM_000414.4(HSD17B4):c.675T>G (p.Leu225=)
|
rs771467784
|
0.00005
|
NM_000414.4(HSD17B4):c.112+8G>A
|
rs770343200
|
0.00004
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
NM_000414.4(HSD17B4):c.1680+18C>T
|
rs372870480
|
0.00004
|
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly)
|
rs769358132
|
0.00004
|
NM_000414.4(HSD17B4):c.357C>A (p.Ile119=)
|
rs374169186
|
0.00004
|
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser)
|
rs372914814
|
0.00004
|
NM_000414.4(HSD17B4):c.681C>T (p.His227=)
|
rs371111330
|
0.00004
|
NM_000414.4(HSD17B4):c.957A>G (p.Thr319=)
|
rs748258737
|
0.00004
|
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val)
|
rs757346346
|
0.00003
|
NM_000414.4(HSD17B4):c.112+15T>G
|
rs763381588
|
0.00003
|
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=)
|
rs370055428
|
0.00003
|
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu)
|
rs201767875
|
0.00003
|
NM_000414.4(HSD17B4):c.1334-18C>T
|
rs777673978
|
0.00003
|
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)
|
rs201009485
|
0.00003
|
NM_000414.4(HSD17B4):c.1855-8G>A
|
rs369600555
|
0.00003
|
NM_000414.4(HSD17B4):c.195A>G (p.Arg65=)
|
rs555583311
|
0.00003
|
NM_000414.4(HSD17B4):c.264T>C (p.Asp88=)
|
rs763999607
|
0.00003
|
NM_000414.4(HSD17B4):c.280+10C>G
|
rs201014485
|
0.00003
|
NM_000414.4(HSD17B4):c.740-5A>C
|
rs779586877
|
0.00003
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000414.4(HSD17B4):c.766A>G (p.Ile256Val)
|
rs768345875
|
0.00003
|
NM_000414.4(HSD17B4):c.815A>C (p.Asn272Thr)
|
rs779675068
|
0.00003
|
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys)
|
rs373503389
|
0.00003
|
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe)
|
rs370579120
|
0.00003
|
NM_000414.4(HSD17B4):c.99A>G (p.Gly33=)
|
rs749165759
|
0.00003
|
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile)
|
rs747214551
|
0.00002
|
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe)
|
rs746616691
|
0.00002
|
NM_000414.4(HSD17B4):c.1262-10T>G
|
rs753171904
|
0.00002
|
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)
|
rs780820166
|
0.00002
|
NM_000414.4(HSD17B4):c.1335C>A (p.Val445=)
|
rs749383778
|
0.00002
|
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln)
|
rs901553037
|
0.00002
|
NM_000414.4(HSD17B4):c.1449C>T (p.Ala483=)
|
rs770218114
|
0.00002
|
NM_000414.4(HSD17B4):c.1503+9G>A
|
rs764210806
|
0.00002
|
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn)
|
rs191468413
|
0.00002
|
NM_000414.4(HSD17B4):c.1848C>G (p.Pro616=)
|
rs369575384
|
0.00002
|
NM_000414.4(HSD17B4):c.1855-6T>C
|
rs748702095
|
0.00002
|
NM_000414.4(HSD17B4):c.1857C>T (p.Gly619=)
|
rs368565759
|
0.00002
|
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg)
|
rs778265488
|
0.00002
|
NM_000414.4(HSD17B4):c.1881A>G (p.Val627=)
|
rs201053163
|
0.00002
|
NM_000414.4(HSD17B4):c.2181G>C (p.Gln727His)
|
rs776945690
|
0.00002
|
NM_000414.4(HSD17B4):c.241A>G (p.Lys81Glu)
|
rs1026521515
|
0.00002
|
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu)
|
rs28943588
|
0.00002
|
NM_000414.4(HSD17B4):c.351T>A (p.Asp117Glu)
|
rs200667890
|
0.00002
|
NM_000414.4(HSD17B4):c.353T>C (p.Ile118Thr)
|
rs139427751
|
0.00002
|
NM_000414.4(HSD17B4):c.376G>A (p.Gly126Ser)
|
rs769066826
|
0.00002
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NM_000414.4(HSD17B4):c.585T>C (p.Asn195=)
|
rs750582359
|
0.00002
|
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val)
|
rs550705310
|
0.00002
|
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=)
|
rs762731834
|
0.00002
|
NM_000414.4(HSD17B4):c.714+12T>G
|
rs762828103
|
0.00002
|
NC_000005.9:g.118829592G>T
|
rs368744809
|
0.00001
|
NM_000414.4(HSD17B4):c.1019C>T (p.Thr340Met)
|
rs201568834
|
0.00001
|
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)
|
rs587777442
|
0.00001
|
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=)
|
rs778708979
|
0.00001
|
NM_000414.4(HSD17B4):c.1074A>G (p.Pro358=)
|
rs777971427
|
0.00001
|
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=)
|
rs1485011447
|
0.00001
|
NM_000414.4(HSD17B4):c.1128C>T (p.Thr376=)
|
rs769074996
|
0.00001
|
NM_000414.4(HSD17B4):c.1149G>A (p.Gln383=)
|
rs1258041380
|
0.00001
|
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr)
|
rs1368714235
|
0.00001
|
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro)
|
rs576803491
|
0.00001
|
NM_000414.4(HSD17B4):c.1209+7C>G
|
rs755414935
|
0.00001
|
NM_000414.4(HSD17B4):c.1230C>T (p.Tyr410=)
|
rs763891697
|
0.00001
|
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)
|
rs764406724
|
0.00001
|
NM_000414.4(HSD17B4):c.1305A>G (p.Lys435=)
|
rs1751697427
|
0.00001
|
NM_000414.4(HSD17B4):c.1347T>C (p.Ser449=)
|
rs1374866979
|
0.00001
|
NM_000414.4(HSD17B4):c.1371T>C (p.Asn457=)
|
rs1381061831
|
0.00001
|
NM_000414.4(HSD17B4):c.1377C>T (p.Phe459=)
|
rs758382416
|
0.00001
|
NM_000414.4(HSD17B4):c.1419G>T (p.Arg473=)
|
rs774382073
|
0.00001
|
NM_000414.4(HSD17B4):c.1436A>G (p.Lys479Arg)
|
rs1318841272
|
0.00001
|
NM_000414.4(HSD17B4):c.1491C>T (p.Thr497=)
|
rs1403761935
|
0.00001
|
NM_000414.4(HSD17B4):c.1503+7T>C
|
rs1412638588
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)
|
rs587777443
|
0.00001
|
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser)
|
rs757297524
|
0.00001
|
NM_000414.4(HSD17B4):c.1554T>C (p.Pro518=)
|
rs1263777745
|
0.00001
|
NM_000414.4(HSD17B4):c.1574-10C>T
|
rs1270877545
|
0.00001
|
NM_000414.4(HSD17B4):c.1574-1G>A
|
rs755412738
|
0.00001
|
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)
|
rs758045328
|
0.00001
|
NM_000414.4(HSD17B4):c.1599A>G (p.Gly533=)
|
rs146514789
|
0.00001
|
NM_000414.4(HSD17B4):c.15G>A (p.Leu5=)
|
rs969042234
|
0.00001
|
NM_000414.4(HSD17B4):c.160G>A (p.Ala54Thr)
|
rs758207228
|
0.00001
|
NM_000414.4(HSD17B4):c.1623C>G (p.Ala541=)
|
rs1753557404
|
0.00001
|
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)
|
rs546653967
|
0.00001
|
NM_000414.4(HSD17B4):c.1626G>A (p.Arg542=)
|
rs374499018
|
0.00001
|
NM_000414.4(HSD17B4):c.163G>A (p.Ala55Thr)
|
rs780149071
|
0.00001
|
NM_000414.4(HSD17B4):c.1657G>A (p.Val553Met)
|
rs149141475
|
0.00001
|
NM_000414.4(HSD17B4):c.1681-5T>A
|
rs1045926538
|
0.00001
|
NM_000414.4(HSD17B4):c.1699G>A (p.Val567Ile)
|
rs775795599
|
0.00001
|
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala)
|
rs763390035
|
0.00001
|
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
0.00001
|
NM_000414.4(HSD17B4):c.1710A>G (p.Gly570=)
|
rs751248561
|
0.00001
|
NM_000414.4(HSD17B4):c.1716T>C (p.Thr572=)
|
rs756875057
|
0.00001
|
NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile)
|
rs375339818
|
0.00001
|
NM_000414.4(HSD17B4):c.1768-17T>A
|
rs946545338
|
0.00001
|
NM_000414.4(HSD17B4):c.177T>G (p.Val59=)
|
rs1460470115
|
0.00001
|
NM_000414.4(HSD17B4):c.1824A>T (p.Thr608=)
|
rs1307922864
|
0.00001
|
NM_000414.4(HSD17B4):c.1855-9C>T
|
rs755078463
|
0.00001
|
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=)
|
rs745478996
|
0.00001
|
NM_000414.4(HSD17B4):c.1898G>A (p.Arg633His)
|
rs754096002
|
0.00001
|
NM_000414.4(HSD17B4):c.1970G>A (p.Gly657Asp)
|
rs141219265
|
0.00001
|
NM_000414.4(HSD17B4):c.1977T>C (p.Asn659=)
|
rs146212267
|
0.00001
|
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys)
|
rs752858179
|
0.00001
|
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=)
|
rs763204818
|
0.00001
|
NM_000414.4(HSD17B4):c.2121+9C>T
|
rs1438030278
|
0.00001
|
NM_000414.4(HSD17B4):c.2122-4G>C
|
rs745684382
|
0.00001
|
NM_000414.4(HSD17B4):c.2122-6T>G
|
rs1370505129
|
0.00001
|
NM_000414.4(HSD17B4):c.2138G>A (p.Arg713Lys)
|
rs149776885
|
0.00001
|
NM_000414.4(HSD17B4):c.2180A>G (p.Gln727Arg)
|
rs766910805
|
0.00001
|
NM_000414.4(HSD17B4):c.220+16G>A
|
rs1474872716
|
0.00001
|
NM_000414.4(HSD17B4):c.220+3A>G
|
rs759069970
|
0.00001
|
NM_000414.4(HSD17B4):c.221-5C>T
|
rs776341078
|
0.00001
|
NM_000414.4(HSD17B4):c.225A>C (p.Ser75=)
|
rs1748368279
|
0.00001
|
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr)
|
rs544455125
|
0.00001
|
NM_000414.4(HSD17B4):c.280+2T>C
|
rs770772281
|
0.00001
|
NM_000414.4(HSD17B4):c.281-5T>C
|
rs777931867
|
0.00001
|
NM_000414.4(HSD17B4):c.302+7A>G
|
rs1027525354
|
0.00001
|
NM_000414.4(HSD17B4):c.375G>C (p.Arg125=)
|
rs745646107
|
0.00001
|
NM_000414.4(HSD17B4):c.426G>A (p.Lys142=)
|
rs758018890
|
0.00001
|
NM_000414.4(HSD17B4):c.429T>C (p.Tyr143=)
|
rs751048975
|
0.00001
|
NM_000414.4(HSD17B4):c.498T>C (p.Ala166=)
|
rs1748850526
|
0.00001
|
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=)
|
rs776640310
|
0.00001
|
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=)
|
rs770261826
|
0.00001
|
NM_000414.4(HSD17B4):c.622+14C>T
|
rs765736425
|
0.00001
|
NM_000414.4(HSD17B4):c.636C>T (p.Ala212=)
|
rs1409182370
|
0.00001
|
NM_000414.4(HSD17B4):c.699T>C (p.Asn233=)
|
rs776251160
|
0.00001
|
NM_000414.4(HSD17B4):c.740-7T>C
|
rs376669126
|
0.00001
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp)
|
rs771780974
|
0.00001
|
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)
|
rs773024366
|
0.00001
|
NM_000414.4(HSD17B4):c.782A>C (p.Asn261Thr)
|
rs763121959
|
0.00001
|
NM_000414.4(HSD17B4):c.786C>T (p.His262=)
|
rs1159372786
|
0.00001
|
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr)
|
rs543710228
|
0.00001
|
NM_000414.4(HSD17B4):c.932A>G (p.Asn311Ser)
|
rs200867795
|
0.00001
|
NM_000414.4(HSD17B4):c.972+10A>G
|
rs1054681866
|
0.00001
|
NC_000005.10:g.(?_119514971)_(119542004_?)del
|
|
|
NC_000005.9:g.(?_118809583)_(118877689_?)dup
|
|
|
NC_000005.9:g.(?_118811381)_(118814736_?)del
|
|
|
NC_000005.9:g.(?_118827775)_(118837807_?)del
|
|
|
NC_000005.9:g.(?_118837726)_(118837797_?)del
|
|
|
NC_000005.9:g.(?_118865579)_(118867109_?)del
|
|
|
NC_000005.9:g.(?_118877580)_(118877689_?)del
|
|
|
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser)
|
rs143750360
|
|
NM_000414.4(HSD17B4):c.1008T>A (p.Ser336=)
|
rs1580623756
|
|
NM_000414.4(HSD17B4):c.1011T>C (p.Tyr337=)
|
rs2126780725
|
|
NM_000414.4(HSD17B4):c.1017T>C (p.Tyr339=)
|
rs1750942728
|
|
NM_000414.4(HSD17B4):c.1029A>G (p.Glu343=)
|
rs1212644115
|
|
NM_000414.4(HSD17B4):c.1037T>C (p.Met346Thr)
|
|
|
NM_000414.4(HSD17B4):c.1042G>A (p.Ala348Thr)
|
|
|
NM_000414.4(HSD17B4):c.1059G>T (p.Ala353=)
|
|
|
NM_000414.4(HSD17B4):c.1065C>T (p.Ile355=)
|
rs2126780991
|
|
NM_000414.4(HSD17B4):c.1067A>G (p.Lys356Arg)
|
|
|
NM_000414.4(HSD17B4):c.1070A>T (p.Asp357Val)
|
|
|
NM_000414.4(HSD17B4):c.1078G>T (p.Asp360Tyr)
|
rs2126781071
|
|
NM_000414.4(HSD17B4):c.1095T>C (p.Tyr365=)
|
rs1554065300
|
|
NM_000414.4(HSD17B4):c.1096G>A (p.Glu366Lys)
|
|
|
NM_000414.4(HSD17B4):c.1098A>G (p.Glu366=)
|
|
|
NM_000414.4(HSD17B4):c.1109A>T (p.Asp370Val)
|
|
|
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)
|
rs1198548214
|
|
NM_000414.4(HSD17B4):c.1117del (p.Cys373fs)
|
|
|
NM_000414.4(HSD17B4):c.1122G>A (p.Leu374=)
|
|
|
NM_000414.4(HSD17B4):c.1125C>T (p.Pro375=)
|
rs2126781246
|
|
NM_000414.4(HSD17B4):c.113-12T>G
|
|
|
NM_000414.4(HSD17B4):c.113-15G>C
|
|
|
NM_000414.4(HSD17B4):c.113-18C>T
|
|
|
NM_000414.4(HSD17B4):c.113-19G>A
|
|
|
NM_000414.4(HSD17B4):c.113-7A>G
|
rs1306804490
|
|
NM_000414.4(HSD17B4):c.113-9G>A
|
rs2126682408
|
|
NM_000414.4(HSD17B4):c.1134A>T (p.Gly378=)
|
rs1561463588
|
|
NM_000414.4(HSD17B4):c.1136T>A (p.Val379Asp)
|
rs1750957000
|
|
NM_000414.4(HSD17B4):c.1140C>T (p.Ile380=)
|
rs2126781375
|
|
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter)
|
rs1750958514
|
|
NM_000414.4(HSD17B4):c.1167A>T (p.Gly389=)
|
rs1340926346
|
|
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
|
|
|
NM_000414.4(HSD17B4):c.1176A>G (p.Ala392=)
|
|
|
NM_000414.4(HSD17B4):c.1177G>A (p.Glu393Lys)
|
|
|
NM_000414.4(HSD17B4):c.117T>C (p.Asn39=)
|
rs1748302967
|
|
NM_000414.4(HSD17B4):c.1180A>G (p.Ile394Val)
|
|
|
NM_000414.4(HSD17B4):c.1181T>C (p.Ile394Thr)
|
|
|
NM_000414.4(HSD17B4):c.1189C>A (p.Leu397Ile)
|
|
|
NM_000414.4(HSD17B4):c.118G>T (p.Asp40Tyr)
|
rs34959311
|
|
NM_000414.4(HSD17B4):c.1191T>C (p.Leu397=)
|
|
|
NM_000414.4(HSD17B4):c.1195A>G (p.Ile399Val)
|
|
|
NM_000414.4(HSD17B4):c.1197C>T (p.Ile399=)
|
rs1750965480
|
|
NM_000414.4(HSD17B4):c.1200C>T (p.Asn400=)
|
rs1408334895
|
|
NM_000414.4(HSD17B4):c.1209+14A>G
|
|
|
NM_000414.4(HSD17B4):c.1209+17A>G
|
|
|
NM_000414.4(HSD17B4):c.1209+17A>T
|
|
|
NM_000414.4(HSD17B4):c.1209+17dup
|
|
|
NM_000414.4(HSD17B4):c.1209+18C>T
|
|
|
NM_000414.4(HSD17B4):c.1209+19C>G
|
|
|
NM_000414.4(HSD17B4):c.1209+19C>T
|
|
|
NM_000414.4(HSD17B4):c.1209+5G>A
|
rs749753383
|
|
NM_000414.4(HSD17B4):c.1209+5G>T
|
|
|
NM_000414.4(HSD17B4):c.1210-10C>T
|
rs529746859
|
|
NM_000414.4(HSD17B4):c.1210-17del
|
rs781059702
|
|
NM_000414.4(HSD17B4):c.1210-1G>A
|
rs1554065671
|
|
NM_000414.4(HSD17B4):c.1210-7A>G
|
rs1751214001
|
|
NM_000414.4(HSD17B4):c.1210-9C>G
|
|
|
NM_000414.4(HSD17B4):c.1210-9C>T
|
rs748506604
|
|
NM_000414.4(HSD17B4):c.1221A>C (p.Gly407=)
|
rs2126790105
|
|
NM_000414.4(HSD17B4):c.1230C>G (p.Tyr410Ter)
|
rs763891697
|
|
NM_000414.4(HSD17B4):c.1231T>C (p.Leu411=)
|
rs1047935593
|
|
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)
|
rs2126790164
|
|
NM_000414.4(HSD17B4):c.1235_1236del (p.Glu412fs)
|
rs2126790168
|
|
NM_000414.4(HSD17B4):c.1236G>A (p.Glu412=)
|
rs766602899
|
|
NM_000414.4(HSD17B4):c.1239A>G (p.Leu413=)
|
rs2126790204
|
|
NM_000414.4(HSD17B4):c.1240T>C (p.Tyr414His)
|
|
|
NM_000414.4(HSD17B4):c.1248A>G (p.Pro416=)
|
rs760174390
|
|
NM_000414.4(HSD17B4):c.1254C>T (p.Pro418=)
|
rs2126790236
|
|
NM_000414.4(HSD17B4):c.1261+15T>C
|
|
|
NM_000414.4(HSD17B4):c.1261+16A>G
|
|
|
NM_000414.4(HSD17B4):c.1261+17C>G
|
|
|
NM_000414.4(HSD17B4):c.1261+17C>T
|
|
|
NM_000414.4(HSD17B4):c.1261+19A>T
|
|
|
NM_000414.4(HSD17B4):c.1261+1G>T
|
|
|
NM_000414.4(HSD17B4):c.1261+8A>G
|
|
|
NM_000414.4(HSD17B4):c.1261+9T>C
|
rs753184910
|
|
NM_000414.4(HSD17B4):c.1262-15T>A
|
|
|
NM_000414.4(HSD17B4):c.1262-15T>G
|
|
|
NM_000414.4(HSD17B4):c.1262-18T>C
|
|
|
NM_000414.4(HSD17B4):c.1262-1G>A
|
rs2126806430
|
|
NM_000414.4(HSD17B4):c.1262-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1262-2A>G
|
rs1751692890
|
|
NM_000414.4(HSD17B4):c.1262-4C>G
|
rs2126806413
|
|
NM_000414.4(HSD17B4):c.1262-4C>T
|
rs2126806413
|
|
NM_000414.4(HSD17B4):c.1262-5dup
|
rs2126806405
|
|
NM_000414.4(HSD17B4):c.1262-6T>G
|
|
|
NM_000414.4(HSD17B4):c.1262-8C>A
|
rs2126806391
|
|
NM_000414.4(HSD17B4):c.1262-8C>G
|
|
|
NM_000414.4(HSD17B4):c.1262-9T>C
|
rs1000944832
|
|
NM_000414.4(HSD17B4):c.1267T>C (p.Leu423=)
|
|
|
NM_000414.4(HSD17B4):c.1269A>G (p.Leu423=)
|
rs2126806465
|
|
NM_000414.4(HSD17B4):c.1271A>G (p.Lys424Arg)
|
rs2126806471
|
|
NM_000414.4(HSD17B4):c.1281A>G (p.Ala427=)
|
|
|
NM_000414.4(HSD17B4):c.1289C>A (p.Ala430Asp)
|
rs1282621174
|
|
NM_000414.4(HSD17B4):c.1293T>C (p.Asp431=)
|
|
|
NM_000414.4(HSD17B4):c.129G>A (p.Gly43=)
|
rs2126682524
|
|
NM_000414.4(HSD17B4):c.12G>A (p.Pro4=)
|
rs1754154891
|
|
NM_000414.4(HSD17B4):c.12G>T (p.Pro4=)
|
rs1754154891
|
|
NM_000414.4(HSD17B4):c.1302T>C (p.Asp434=)
|
rs2126806596
|
|
NM_000414.4(HSD17B4):c.131A>T (p.Asp44Val)
|
rs200063597
|
|
NM_000414.4(HSD17B4):c.1320G>C (p.Val440=)
|
|
|
NM_000414.4(HSD17B4):c.132C>T (p.Asp44=)
|
|
|
NM_000414.4(HSD17B4):c.1333+13C>G
|
|
|
NM_000414.4(HSD17B4):c.1333+15A>G
|
|
|
NM_000414.4(HSD17B4):c.1333+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1333+7T>G
|
|
|
NM_000414.4(HSD17B4):c.1333+8A>C
|
rs1751701700
|
|
NM_000414.4(HSD17B4):c.1334-12_1334-9del
|
|
|
NM_000414.4(HSD17B4):c.1334-13A>G
|
|
|
NM_000414.4(HSD17B4):c.1334-19T>C
|
|
|
NM_000414.4(HSD17B4):c.1334-4T>A
|
rs2126813983
|
|
NM_000414.4(HSD17B4):c.1334-4del
|
rs2126813978
|
|
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe)
|
rs768553274
|
|
NM_000414.4(HSD17B4):c.1338T>C (p.Tyr446=)
|
|
|
NM_000414.4(HSD17B4):c.1344T>C (p.Tyr448=)
|
|
|
NM_000414.4(HSD17B4):c.1350G>A (p.Glu450=)
|
rs1308707943
|
|
NM_000414.4(HSD17B4):c.1352A>G (p.Lys451Arg)
|
|
|
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs)
|
rs1751933402
|
|
NM_000414.4(HSD17B4):c.1354G>C (p.Glu452Gln)
|
|
|
NM_000414.4(HSD17B4):c.1361T>A (p.Ile454Lys)
|
|
|
NM_000414.4(HSD17B4):c.1366C>G (p.His456Asp)
|
|
|
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1370A>G (p.Asn457Ser)
|
|
|
NM_000414.4(HSD17B4):c.1374G>A (p.Gln458=)
|
|
|
NM_000414.4(HSD17B4):c.1380T>C (p.Ser460=)
|
|
|
NM_000414.4(HSD17B4):c.1383C>T (p.Leu461=)
|
rs2126814315
|
|
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs)
|
rs2126814260
|
|
NM_000414.4(HSD17B4):c.1388T>C (p.Leu463Pro)
|
rs2126814342
|
|
NM_000414.4(HSD17B4):c.1398T>C (p.Ser466=)
|
|
|
NM_000414.4(HSD17B4):c.13C>T (p.Leu5=)
|
rs2126590496
|
|
NM_000414.4(HSD17B4):c.1404C>T (p.Gly468=)
|
|
|
NM_000414.4(HSD17B4):c.1416A>G (p.Lys472=)
|
|
|
NM_000414.4(HSD17B4):c.1417C>A (p.Arg473=)
|
rs201455193
|
|
NM_000414.4(HSD17B4):c.141A>C (p.Gly47=)
|
|
|
NM_000414.4(HSD17B4):c.1422A>G (p.Thr474=)
|
|
|
NM_000414.4(HSD17B4):c.1422A>T (p.Thr474=)
|
|
|
NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter)
|
rs1751944228
|
|
NM_000414.4(HSD17B4):c.1424C>T (p.Ser475Leu)
|
|
|
NM_000414.4(HSD17B4):c.1425A>G (p.Ser475=)
|
|
|
NM_000414.4(HSD17B4):c.1426_1429del (p.Asp476fs)
|
|
|
NM_000414.4(HSD17B4):c.1428C>T (p.Asp476=)
|
|
|
NM_000414.4(HSD17B4):c.1434C>T (p.Val478=)
|
rs1239905170
|
|
NM_000414.4(HSD17B4):c.1437+18A>C
|
|
|
NM_000414.4(HSD17B4):c.1438-12T>C
|
|
|
NM_000414.4(HSD17B4):c.1438-13G>A
|
|
|
NM_000414.4(HSD17B4):c.1438-14T>C
|
|
|
NM_000414.4(HSD17B4):c.1438-18G>A
|
|
|
NM_000414.4(HSD17B4):c.1438-1G>A
|
rs1554067009
|
|
NM_000414.4(HSD17B4):c.1438-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1438-2A>C
|
rs1057516273
|
|
NM_000414.4(HSD17B4):c.1438-6T>C
|
rs2126834578
|
|
NM_000414.4(HSD17B4):c.1438-9T>G
|
rs2126834570
|
|
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val)
|
rs775297352
|
|
NM_000414.4(HSD17B4):c.1470T>C (p.Asp490=)
|
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000414.4(HSD17B4):c.1476A>C (p.Val492=)
|
|
|
NM_000414.4(HSD17B4):c.147T>C (p.Gly49=)
|
|
|
NM_000414.4(HSD17B4):c.1480_1481insGA (p.Thr494fs)
|
rs775060894
|
|
NM_000414.4(HSD17B4):c.1482A>G (p.Thr494=)
|
|
|
NM_000414.4(HSD17B4):c.1484A>T (p.Asp495Val)
|
rs755720085
|
|
NM_000414.4(HSD17B4):c.1490C>A (p.Thr497Asn)
|
|
|
NM_000414.4(HSD17B4):c.1496T>G (p.Leu499Arg)
|
|
|
NM_000414.4(HSD17B4):c.1499_1502del (p.Asn500fs)
|
|
|
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs)
|
rs2126834942
|
|
NM_000414.4(HSD17B4):c.1503+11del
|
|
|
NM_000414.4(HSD17B4):c.1503+16dup
|
|
|
NM_000414.4(HSD17B4):c.1503+17G>A
|
|
|
NM_000414.4(HSD17B4):c.1503+18A>C
|
|
|
NM_000414.4(HSD17B4):c.1503+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1503+22del
|
|
|
NM_000414.4(HSD17B4):c.1503+8T>A
|
|
|
NM_000414.4(HSD17B4):c.1504-11T>C
|
|
|
NM_000414.4(HSD17B4):c.1504-12C>T
|
|
|
NM_000414.4(HSD17B4):c.1504-15A>G
|
|
|
NM_000414.4(HSD17B4):c.1504-17T>G
|
|
|
NM_000414.4(HSD17B4):c.1504-1G>A
|
|
|
NM_000414.4(HSD17B4):c.1504-20T>C
|
|
|
NM_000414.4(HSD17B4):c.1504-5C>G
|
|
|
NM_000414.4(HSD17B4):c.1504-6C>T
|
|
|
NM_000414.4(HSD17B4):c.1504-7T>G
|
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1521C>T (p.Leu507=)
|
rs2126873440
|
|
NM_000414.4(HSD17B4):c.1527A>C (p.Gly509=)
|
rs2126873458
|
|
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)
|
rs764300456
|
|
NM_000414.4(HSD17B4):c.1539C>T (p.Pro513=)
|
|
|
NM_000414.4(HSD17B4):c.1542A>G (p.Leu514=)
|
rs2126873548
|
|
NM_000414.4(HSD17B4):c.1545C>T (p.His515=)
|
rs751742258
|
|
NM_000414.4(HSD17B4):c.1548T>A (p.Ile516=)
|
|
|
NM_000414.4(HSD17B4):c.1560T>C (p.Phe520=)
|
|
|
NM_000414.4(HSD17B4):c.1573+10C>G
|
rs2126873736
|
|
NM_000414.4(HSD17B4):c.1573+15A>G
|
|
|
NM_000414.4(HSD17B4):c.1573+15A>T
|
|
|
NM_000414.4(HSD17B4):c.1573+17A>G
|
|
|
NM_000414.4(HSD17B4):c.1573+1G>T
|
|
|
NM_000414.4(HSD17B4):c.1573+8G>A
|
|
|
NM_000414.4(HSD17B4):c.1574-12C>T
|
|
|
NM_000414.4(HSD17B4):c.1574-15T>G
|
|
|
NM_000414.4(HSD17B4):c.1574-16T>G
|
|
|
NM_000414.4(HSD17B4):c.1574-17G>T
|
|
|
NM_000414.4(HSD17B4):c.1574-19G>C
|
|
|
NM_000414.4(HSD17B4):c.1574-4C>T
|
rs2126876188
|
|
NM_000414.4(HSD17B4):c.1574-5C>T
|
|
|
NM_000414.4(HSD17B4):c.1574-9T>C
|
|
|
NM_000414.4(HSD17B4):c.1575T>C (p.Gly525=)
|
rs2126876208
|
|
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs)
|
rs1561485663
|
|
NM_000414.4(HSD17B4):c.1578dup (p.Asp527Ter)
|
|
|
NM_000414.4(HSD17B4):c.1587C>T (p.Pro529=)
|
|
|
NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)
|
|
|
NM_000414.4(HSD17B4):c.1599A>T (p.Gly533=)
|
|
|
NM_000414.4(HSD17B4):c.1608A>C (p.Thr536=)
|
|
|
NM_000414.4(HSD17B4):c.1614A>G (p.Gly538=)
|
|
|
NM_000414.4(HSD17B4):c.1617T>C (p.Phe539=)
|
|
|
NM_000414.4(HSD17B4):c.1619C>A (p.Ser540Tyr)
|
|
|
NM_000414.4(HSD17B4):c.161C>G (p.Ala54Gly)
|
rs141517981
|
|
NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)
|
|
|
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)
|
rs201009485
|
|
NM_000414.4(HSD17B4):c.1629T>C (p.Arg543=)
|
rs2126876453
|
|
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)
|
rs1057517323
|
|
NM_000414.4(HSD17B4):c.1632G>A (p.Val544=)
|
|
|
NM_000414.4(HSD17B4):c.1647A>G (p.Ala549=)
|
rs2126876484
|
|
NM_000414.4(HSD17B4):c.1655A>T (p.Asp552Val)
|
rs1753560298
|
|
NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs)
|
rs1753560558
|
|
NM_000414.4(HSD17B4):c.165T>C (p.Ala55=)
|
rs1748310768
|
|
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr)
|
|
|
NM_000414.4(HSD17B4):c.1674A>T (p.Ala558=)
|
rs1007425510
|
|
NM_000414.4(HSD17B4):c.1680+10T>C
|
|
|
NM_000414.4(HSD17B4):c.1680+15C>G
|
|
|
NM_000414.4(HSD17B4):c.1680+15C>T
|
|
|
NM_000414.4(HSD17B4):c.1680+19G>A
|
|
|
NM_000414.4(HSD17B4):c.1680+7G>A
|
rs760053447
|
|
NM_000414.4(HSD17B4):c.1680+7G>C
|
|
|
NM_000414.4(HSD17B4):c.1680+9G>A
|
|
|
NM_000414.4(HSD17B4):c.1680+9G>C
|
|
|
NM_000414.4(HSD17B4):c.1680G>C (p.Lys560Asn)
|
|
|
NM_000414.4(HSD17B4):c.1681-10T>C
|
rs2126880672
|
|
NM_000414.4(HSD17B4):c.1681-15A>C
|
|
|
NM_000414.4(HSD17B4):c.1681-15A>G
|
rs375327755
|
|
NM_000414.4(HSD17B4):c.1681-17A>G
|
|
|
NM_000414.4(HSD17B4):c.1681-18C>G
|
|
|
NM_000414.4(HSD17B4):c.1681-9T>A
|
|
|
NM_000414.4(HSD17B4):c.1681G>T (p.Ala561Ser)
|
|
|
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)
|
rs1239645507
|
|
NM_000414.4(HSD17B4):c.1690_1691delinsCT (p.Ala564Leu)
|
|
|
NM_000414.4(HSD17B4):c.1691C>T (p.Ala564Val)
|
|
|
NM_000414.4(HSD17B4):c.1692A>C (p.Ala564=)
|
|
|
NM_000414.4(HSD17B4):c.1695A>G (p.Lys565=)
|
|
|
NM_000414.4(HSD17B4):c.1698A>G (p.Pro566=)
|
rs1380019592
|
|
NM_000414.4(HSD17B4):c.1708G>T (p.Gly570Ter)
|
rs2126880873
|
|
NM_000414.4(HSD17B4):c.1713A>G (p.Gln571=)
|
rs1580700697
|
|
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)
|
rs1057516936
|
|
NM_000414.4(HSD17B4):c.1719A>G (p.Leu573=)
|
|
|
NM_000414.4(HSD17B4):c.1724C>G (p.Thr575Ser)
|
|
|
NM_000414.4(HSD17B4):c.1725T>G (p.Thr575=)
|
|
|
NM_000414.4(HSD17B4):c.1743A>C (p.Gly581=)
|
|
|
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs)
|
rs1554068426
|
|
NM_000414.4(HSD17B4):c.1767+12G>T
|
|
|
NM_000414.4(HSD17B4):c.1767+14T>G
|
rs1233318059
|
|
NM_000414.4(HSD17B4):c.1767+18del
|
|
|
NM_000414.4(HSD17B4):c.1767+5G>A
|
rs1753684353
|
|
NM_000414.4(HSD17B4):c.1767+7A>C
|
|
|
NM_000414.4(HSD17B4):c.1767+7A>G
|
rs2126881188
|
|
NM_000414.4(HSD17B4):c.1768-10T>A
|
|
|
NM_000414.4(HSD17B4):c.1768-10_1768-9delinsCT
|
rs2126889511
|
|
NM_000414.4(HSD17B4):c.1768-11C>T
|
|
|
NM_000414.4(HSD17B4):c.1768-14dup
|
|
|
NM_000414.4(HSD17B4):c.1768-15T>C
|
|
|
NM_000414.4(HSD17B4):c.1768-17T>C
|
|
|
NM_000414.4(HSD17B4):c.1768-5C>T
|
rs2126889561
|
|
NM_000414.4(HSD17B4):c.1768-6C>G
|
|
|
NM_000414.4(HSD17B4):c.1768-6_1768-4del
|
rs755128532
|
|
NM_000414.4(HSD17B4):c.1768-7T>A
|
|
|
NM_000414.4(HSD17B4):c.1768-9C>T
|
rs1338480210
|
|
NM_000414.4(HSD17B4):c.1773A>G (p.Gln591=)
|
rs752533944
|
|
NM_000414.4(HSD17B4):c.1785C>T (p.Asp595=)
|
rs781491742
|
|
NM_000414.4(HSD17B4):c.1804T>C (p.Tyr602His)
|
|
|
NM_000414.4(HSD17B4):c.1805A>G (p.Tyr602Cys)
|
|
|
NM_000414.4(HSD17B4):c.1806T>C (p.Tyr602=)
|
rs2126889740
|
|
NM_000414.4(HSD17B4):c.1809G>A (p.Val603=)
|
rs1279792063
|
|
NM_000414.4(HSD17B4):c.1818A>G (p.Ala606=)
|
|
|
NM_000414.4(HSD17B4):c.1818A>T (p.Ala606=)
|
|
|
NM_000414.4(HSD17B4):c.1819C>T (p.Pro607Ser)
|
|
|
NM_000414.4(HSD17B4):c.1821A>C (p.Pro607=)
|
|
|
NM_000414.4(HSD17B4):c.1833T>C (p.Thr611=)
|
rs765961638
|
|
NM_000414.4(HSD17B4):c.1836A>G (p.Ser612=)
|
rs2126889891
|
|
NM_000414.4(HSD17B4):c.1848C>T (p.Pro616=)
|
|
|
NM_000414.4(HSD17B4):c.1854+12A>G
|
rs1753922633
|
|
NM_000414.4(HSD17B4):c.1854+14A>C
|
|
|
NM_000414.4(HSD17B4):c.1854+15T>A
|
|
|
NM_000414.4(HSD17B4):c.1854+18G>A
|
|
|
NM_000414.4(HSD17B4):c.1854+18G>C
|
|
|
NM_000414.4(HSD17B4):c.1854+20A>G
|
|
|
NM_000414.4(HSD17B4):c.1854+8A>T
|
|
|
NM_000414.4(HSD17B4):c.1854+9T>G
|
|
|
NM_000414.4(HSD17B4):c.1855-13T>C
|
|
|
NM_000414.4(HSD17B4):c.1855-19_1855-16del
|
|
|
NM_000414.4(HSD17B4):c.1855-9_1855-7del
|
rs1440146478
|
|
NM_000414.4(HSD17B4):c.1860G>A (p.Gly620=)
|
|
|
NM_000414.4(HSD17B4):c.1863G>A (p.Lys621=)
|
rs1580711075
|
|
NM_000414.4(HSD17B4):c.1866T>G (p.Leu622=)
|
rs2126896081
|
|
NM_000414.4(HSD17B4):c.186A>C (p.Ile62=)
|
rs748540970
|
|
NM_000414.4(HSD17B4):c.1875C>T (p.Thr625=)
|
rs745478996
|
|
NM_000414.4(HSD17B4):c.1878T>C (p.Phe626=)
|
rs2126896176
|
|
NM_000414.4(HSD17B4):c.187A>T (p.Arg63Ter)
|
|
|
NM_000414.4(HSD17B4):c.1885G>C (p.Glu629Gln)
|
|
|
NM_000414.4(HSD17B4):c.1898_1902del (p.Arg633fs)
|
|
|
NM_000414.4(HSD17B4):c.1899C>A (p.Arg633=)
|
|
|
NM_000414.4(HSD17B4):c.1899C>T (p.Arg633=)
|
|
|
NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His)
|
|
|
NM_000414.4(HSD17B4):c.1902C>A (p.Arg634=)
|
|
|
NM_000414.4(HSD17B4):c.1902C>T (p.Arg634=)
|
rs1017592892
|
|
NM_000414.4(HSD17B4):c.1905A>G (p.Leu635=)
|
|
|
NM_000414.4(HSD17B4):c.1905A>T (p.Leu635=)
|
rs758434548
|
|
NM_000414.4(HSD17B4):c.1908G>A (p.Lys636=)
|
rs1430676057
|
|
NM_000414.4(HSD17B4):c.1914T>A (p.Ile638=)
|
rs1580711431
|
|
NM_000414.4(HSD17B4):c.1917G>A (p.Gly639=)
|
rs2126896399
|
|
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter)
|
rs1754083341
|
|
NM_000414.4(HSD17B4):c.1926G>T (p.Val642=)
|
rs1182381795
|
|
NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser)
|
rs1294462098
|
|
NM_000414.4(HSD17B4):c.1932G>A (p.Lys644=)
|
|
|
NM_000414.4(HSD17B4):c.1935A>G (p.Lys645=)
|
|
|
NM_000414.4(HSD17B4):c.1938A>G (p.Val646=)
|
|
|
NM_000414.4(HSD17B4):c.193A>C (p.Arg65=)
|
|
|
NM_000414.4(HSD17B4):c.1944T>G (p.Ala648=)
|
|
|
NM_000414.4(HSD17B4):c.1945G>A (p.Val649Ile)
|
|
|
NM_000414.4(HSD17B4):c.1947A>G (p.Val649=)
|
rs769560045
|
|
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter)
|
rs1754087713
|
|
NM_000414.4(HSD17B4):c.1954_1970del (p.Trp652fs)
|
rs2126896587
|
|
NM_000414.4(HSD17B4):c.1956G>A (p.Trp652Ter)
|
|
|
NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg)
|
|
|
NM_000414.4(HSD17B4):c.1965C>G (p.Thr655=)
|
rs546307544
|
|
NM_000414.4(HSD17B4):c.1965C>T (p.Thr655=)
|
rs546307544
|
|
NM_000414.4(HSD17B4):c.1971C>A (p.Gly657=)
|
rs776519991
|
|
NM_000414.4(HSD17B4):c.1971C>T (p.Gly657=)
|
rs776519991
|
|
NM_000414.4(HSD17B4):c.1974A>C (p.Gly658=)
|
|
|
NM_000414.4(HSD17B4):c.1983G>A (p.Gly661=)
|
rs2126896730
|
|
NM_000414.4(HSD17B4):c.1986del (p.Lys663fs)
|
|
|
NM_000414.4(HSD17B4):c.198T>C (p.Gly66=)
|
rs1748314832
|
|
NM_000414.4(HSD17B4):c.198T>G (p.Gly66=)
|
|
|
NM_000414.4(HSD17B4):c.1993+12C>A
|
|
|
NM_000414.4(HSD17B4):c.1993+12C>T
|
|
|
NM_000414.4(HSD17B4):c.1993+13C>G
|
|
|
NM_000414.4(HSD17B4):c.1993+16G>T
|
|
|
NM_000414.4(HSD17B4):c.1993+7T>C
|
|
|
NM_000414.4(HSD17B4):c.1993+7T>G
|
|
|
NM_000414.4(HSD17B4):c.1994-11A>G
|
|
|
NM_000414.4(HSD17B4):c.1994-13C>T
|
|
|
NM_000414.4(HSD17B4):c.1994-17C>G
|
|
|
NM_000414.4(HSD17B4):c.1994-4C>G
|
|
|
NM_000414.4(HSD17B4):c.1994-4C>T
|
rs1331852613
|
|
NM_000414.4(HSD17B4):c.1994-5C>G
|
|
|
NM_000414.4(HSD17B4):c.1994-9T>G
|
|
|
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)
|
rs1488399880
|
|
NM_000414.4(HSD17B4):c.2001C>T (p.Asp667=)
|
|
|
NM_000414.4(HSD17B4):c.200G>A (p.Gly67Glu)
|
|
|
NM_000414.4(HSD17B4):c.2011G>C (p.Gly671Arg)
|
|
|
NM_000414.4(HSD17B4):c.2019A>C (p.Gly673=)
|
rs2126915535
|
|
NM_000414.4(HSD17B4):c.2028C>T (p.Tyr676=)
|
|
|
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)
|
rs751646311
|
|
NM_000414.4(HSD17B4):c.2032G>A (p.Gly678Ser)
|
|
|
NM_000414.4(HSD17B4):c.2040A>G (p.Ala680=)
|
rs2126915676
|
|
NM_000414.4(HSD17B4):c.2045G>A (p.Gly682Asp)
|
|
|
NM_000414.4(HSD17B4):c.2061A>G (p.Thr687=)
|
rs1754550519
|
|
NM_000414.4(HSD17B4):c.2064C>A (p.Ile688=)
|
|
|
NM_000414.4(HSD17B4):c.2065A>G (p.Ile689Val)
|
|
|
NM_000414.4(HSD17B4):c.2075A>G (p.Asp692Gly)
|
rs2126915869
|
|
NM_000414.4(HSD17B4):c.207A>G (p.Ala69=)
|
rs1748315534
|
|
NM_000414.4(HSD17B4):c.2097C>T (p.Val699=)
|
rs202134940
|
|
NM_000414.4(HSD17B4):c.2106G>T (p.Lys702Asn)
|
|
|
NM_000414.4(HSD17B4):c.2109T>A (p.Leu703=)
|
rs2126916051
|
|
NM_000414.4(HSD17B4):c.2112C>A (p.Asp704Glu)
|
|
|
NM_000414.4(HSD17B4):c.2115T>C (p.Pro705=)
|
rs2126916088
|
|
NM_000414.4(HSD17B4):c.2121+12A>G
|
|
|
NM_000414.4(HSD17B4):c.2121+14A>T
|
|
|
NM_000414.4(HSD17B4):c.2121+16G>A
|
|
|
NM_000414.4(HSD17B4):c.2121+19C>A
|
|
|
NM_000414.4(HSD17B4):c.2121+20A>G
|
|
|
NM_000414.4(HSD17B4):c.2121+20A>T
|
|
|
NM_000414.4(HSD17B4):c.2121+7T>C
|
rs876657477
|
|
NM_000414.4(HSD17B4):c.2121+9C>G
|
|
|
NM_000414.4(HSD17B4):c.2122-10C>T
|
|
|
NM_000414.4(HSD17B4):c.2122-12C>A
|
|
|
NM_000414.4(HSD17B4):c.2122-12C>G
|
|
|
NM_000414.4(HSD17B4):c.2122-13C>G
|
|
|
NM_000414.4(HSD17B4):c.2122-13C>T
|
|
|
NM_000414.4(HSD17B4):c.2122-14T>G
|
|
|
NM_000414.4(HSD17B4):c.2122-17C>T
|
|
|
NM_000414.4(HSD17B4):c.2122-18T>C
|
|
|
NM_000414.4(HSD17B4):c.2122-9T>C
|
rs573283226
|
|
NM_000414.4(HSD17B4):c.2127C>G (p.Phe709Leu)
|
rs541911825
|
|
NM_000414.4(HSD17B4):c.2135G>A (p.Gly712Asp)
|
|
|
NM_000414.4(HSD17B4):c.213C>T (p.Ala71=)
|
|
|
NM_000414.4(HSD17B4):c.2151A>G (p.Arg717=)
|
rs2126934635
|
|
NM_000414.4(HSD17B4):c.2163G>A (p.Met721Ile)
|
rs2126934715
|
|
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys)
|
rs1554062124
|
|
NM_000414.4(HSD17B4):c.216C>T (p.Asn72=)
|
|
|
NM_000414.4(HSD17B4):c.2172G>A (p.Gln724=)
|
rs2126934732
|
|
NM_000414.4(HSD17B4):c.2175A>G (p.Lys725=)
|
|
|
NM_000414.4(HSD17B4):c.2190T>C (p.Leu730=)
|
rs1580736426
|
|
NM_000414.4(HSD17B4):c.2196C>T (p.Asp732=)
|
|
|
NM_000414.4(HSD17B4):c.21C>T (p.Phe7=)
|
rs143278360
|
|
NM_000414.4(HSD17B4):c.220+10T>C
|
|
|
NM_000414.4(HSD17B4):c.220+14G>A
|
|
|
NM_000414.4(HSD17B4):c.2208C>G (p.Leu736=)
|
rs1755036599
|
|
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
|
|
|
NM_000414.4(HSD17B4):c.221-10T>C
|
rs561984163
|
|
NM_000414.4(HSD17B4):c.221-12C>T
|
|
|
NM_000414.4(HSD17B4):c.221-17A>G
|
|
|
NM_000414.4(HSD17B4):c.221-18A>C
|
|
|
NM_000414.4(HSD17B4):c.221-5del
|
rs2126684201
|
|
NM_000414.4(HSD17B4):c.221-6C>T
|
|
|
NM_000414.4(HSD17B4):c.221-9T>A
|
|
|
NM_000414.4(HSD17B4):c.231A>G (p.Glu77=)
|
rs1580547484
|
|
NM_000414.4(HSD17B4):c.243G>A (p.Lys81=)
|
rs2126684335
|
|
NM_000414.4(HSD17B4):c.245T>C (p.Val82Ala)
|
|
|
NM_000414.4(HSD17B4):c.249G>A (p.Val83=)
|
rs368850124
|
|
NM_000414.4(HSD17B4):c.251A>G (p.Lys84Arg)
|
|
|
NM_000414.4(HSD17B4):c.258C>T (p.Ala86=)
|
|
|
NM_000414.4(HSD17B4):c.259C>T (p.Leu87=)
|
|
|
NM_000414.4(HSD17B4):c.261G>A (p.Leu87=)
|
|
|
NM_000414.4(HSD17B4):c.261G>C (p.Leu87=)
|
|
|
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)
|
rs1276397342
|
|
NM_000414.4(HSD17B4):c.272G>A (p.Gly91Glu)
|
|
|
NM_000414.4(HSD17B4):c.275G>T (p.Arg92Ile)
|
rs754108630
|
|
NM_000414.4(HSD17B4):c.280+20T>A
|
|
|
NM_000414.4(HSD17B4):c.280+20T>C
|
|
|
NM_000414.4(HSD17B4):c.280+4A>G
|
rs759020197
|
|
NM_000414.4(HSD17B4):c.280+4A>T
|
|
|
NM_000414.4(HSD17B4):c.280+5T>C
|
rs2126684592
|
|
NM_000414.4(HSD17B4):c.280+7T>C
|
|
|
NM_000414.4(HSD17B4):c.280+9T>C
|
rs1288645410
|
|
NM_000414.4(HSD17B4):c.281-11_281-10del
|
|
|
NM_000414.4(HSD17B4):c.281-15del
|
|
|
NM_000414.4(HSD17B4):c.281-19G>A
|
|
|
NM_000414.4(HSD17B4):c.281-19G>T
|
|
|
NM_000414.4(HSD17B4):c.281-2A>G
|
rs1554062343
|
|
NM_000414.4(HSD17B4):c.281-9A>G
|
rs894789339
|
|
NM_000414.4(HSD17B4):c.283_302+2delinsATATAAAAAAAGAAAA
|
|
|
NM_000414.4(HSD17B4):c.291C>A (p.Val97=)
|
|
|
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp)
|
rs1561442127
|
|
NM_000414.4(HSD17B4):c.293A>G (p.Asn98Ser)
|
rs1392361503
|
|
NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
|
|
|
NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
|
|
|
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs)
|
rs1057516672
|
|
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
|
rs1554062352
|
|
NM_000414.4(HSD17B4):c.302+11_302+14del
|
|
|
NM_000414.4(HSD17B4):c.302+19T>A
|
|
|
NM_000414.4(HSD17B4):c.302+1G>A
|
rs2126689875
|
|
NM_000414.4(HSD17B4):c.302+23del
|
|
|
NM_000414.4(HSD17B4):c.303-12T>C
|
|
|
NM_000414.4(HSD17B4):c.303-14del
|
|
|
NM_000414.4(HSD17B4):c.303-17C>T
|
rs764289044
|
|
NM_000414.4(HSD17B4):c.303-19T>A
|
|
|
NM_000414.4(HSD17B4):c.303-20A>G
|
|
|
NM_000414.4(HSD17B4):c.303-3dup
|
rs1292554547
|
|
NM_000414.4(HSD17B4):c.303-7T>G
|
|
|
NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys)
|
|
|
NM_000414.4(HSD17B4):c.338A>C (p.Asp113Ala)
|
|
|
NM_000414.4(HSD17B4):c.343del (p.Asp115fs)
|
|
|
NM_000414.4(HSD17B4):c.349+13del
|
rs1187910536
|
|
NM_000414.4(HSD17B4):c.349+15G>T
|
|
|
NM_000414.4(HSD17B4):c.349+16dup
|
|
|
NM_000414.4(HSD17B4):c.349+17A>G
|
|
|
NM_000414.4(HSD17B4):c.350-10A>G
|
|
|
NM_000414.4(HSD17B4):c.350-13T>A
|
|
|
NM_000414.4(HSD17B4):c.350-14A>C
|
|
|
NM_000414.4(HSD17B4):c.350-16del
|
|
|
NM_000414.4(HSD17B4):c.350-17A>C
|
|
|
NM_000414.4(HSD17B4):c.350-17A>G
|
|
|
NM_000414.4(HSD17B4):c.350-1G>T
|
|
|
NM_000414.4(HSD17B4):c.350-7G>A
|
|
|
NM_000414.4(HSD17B4):c.351T>C (p.Asp117=)
|
rs200667890
|
|
NM_000414.4(HSD17B4):c.361A>G (p.Arg121Gly)
|
rs1455328824
|
|
NM_000414.4(HSD17B4):c.363_364del (p.Arg121fs)
|
|
|
NM_000414.4(HSD17B4):c.373C>A (p.Arg125=)
|
|
|
NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp)
|
|
|
NM_000414.4(HSD17B4):c.381A>G (p.Ser127=)
|
|
|
NM_000414.4(HSD17B4):c.396G>C (p.Arg132=)
|
|
|
NM_000414.4(HSD17B4):c.399A>G (p.Ala133=)
|
|
|
NM_000414.4(HSD17B4):c.402A>C (p.Ala134=)
|
|
|
NM_000414.4(HSD17B4):c.402A>T (p.Ala134=)
|
rs754255447
|
|
NM_000414.4(HSD17B4):c.417G>A (p.Lys139=)
|
|
|
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
|
rs2126696915
|
|
NM_000414.4(HSD17B4):c.432A>G (p.Gly144=)
|
rs2126696973
|
|
NM_000414.4(HSD17B4):c.434+15G>C
|
|
|
NM_000414.4(HSD17B4):c.434+5A>G
|
|
|
NM_000414.4(HSD17B4):c.434+9G>T
|
rs2126697024
|
|
NM_000414.4(HSD17B4):c.435-13A>G
|
|
|
NM_000414.4(HSD17B4):c.435-14G>T
|
|
|
NM_000414.4(HSD17B4):c.435-16T>C
|
|
|
NM_000414.4(HSD17B4):c.435-20G>A
|
|
|
NM_000414.4(HSD17B4):c.435-4T>A
|
rs2126702366
|
|
NM_000414.4(HSD17B4):c.435-8C>G
|
|
|
NM_000414.4(HSD17B4):c.439del (p.Ile147fs)
|
rs2126702418
|
|
NM_000414.4(HSD17B4):c.442A>G (p.Met148Val)
|
rs765174171
|
|
NM_000414.4(HSD17B4):c.456T>C (p.Ala152=)
|
rs779756356
|
|
NM_000414.4(HSD17B4):c.459A>C (p.Ser153=)
|
rs749090911
|
|
NM_000414.4(HSD17B4):c.459A>G (p.Ser153=)
|
|
|
NM_000414.4(HSD17B4):c.491A>G (p.Tyr164Cys)
|
|
|
NM_000414.4(HSD17B4):c.498T>G (p.Ala166=)
|
rs1748850526
|
|
NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)
|
|
|
NM_000414.4(HSD17B4):c.519C>T (p.Gly173=)
|
rs770301555
|
|
NM_000414.4(HSD17B4):c.529T>C (p.Ser177Pro)
|
|
|
NM_000414.4(HSD17B4):c.537A>G (p.Ala179=)
|
rs2126702878
|
|
NM_000414.4(HSD17B4):c.550A>G (p.Lys184Glu)
|
|
|
NM_000414.4(HSD17B4):c.558C>T (p.Asn186=)
|
|
|
NM_000414.4(HSD17B4):c.561dup (p.His188fs)
|
|
|
NM_000414.4(HSD17B4):c.564T>C (p.His188=)
|
|
|
NM_000414.4(HSD17B4):c.579T>C (p.Ala193=)
|
|
|
NM_000414.4(HSD17B4):c.58+15G>T
|
|
|
NM_000414.4(HSD17B4):c.58+16T>A
|
|
|
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
|
|
|
NM_000414.4(HSD17B4):c.59-1G>A
|
|
|
NM_000414.4(HSD17B4):c.59-3T>G
|
|
|
NM_000414.4(HSD17B4):c.59-4T>C
|
|
|
NM_000414.4(HSD17B4):c.59-5A>T
|
|
|
NM_000414.4(HSD17B4):c.59-8T>A
|
rs2126610283
|
|
NM_000414.4(HSD17B4):c.590_597dup (p.Met200fs)
|
rs2126703106
|
|
NM_000414.4(HSD17B4):c.591A>G (p.Gly197=)
|
rs2126703123
|
|
NM_000414.4(HSD17B4):c.594A>T (p.Ser198=)
|
rs2126703127
|
|
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
|
|
|
NM_000414.4(HSD17B4):c.596G>A (p.Arg199Gln)
|
|
|
NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)
|
rs2126703227
|
|
NM_000414.4(HSD17B4):c.609A>G (p.Thr203=)
|
|
|
NM_000414.4(HSD17B4):c.618T>A (p.Pro206=)
|
|
|
NM_000414.4(HSD17B4):c.61T>C (p.Leu21=)
|
|
|
NM_000414.4(HSD17B4):c.622+16T>G
|
|
|
NM_000414.4(HSD17B4):c.622+17A>G
|
|
|
NM_000414.4(HSD17B4):c.622+19A>T
|
|
|
NM_000414.4(HSD17B4):c.622+20T>G
|
|
|
NM_000414.4(HSD17B4):c.622+7A>C
|
|
|
NM_000414.4(HSD17B4):c.622+8A>G
|
|
|
NM_000414.4(HSD17B4):c.622+9G>A
|
rs2126703352
|
|
NM_000414.4(HSD17B4):c.623-12T>G
|
|
|
NM_000414.4(HSD17B4):c.623-18G>A
|
|
|
NM_000414.4(HSD17B4):c.623-20G>A
|
|
|
NM_000414.4(HSD17B4):c.623-8T>C
|
rs1393357671
|
|
NM_000414.4(HSD17B4):c.623-8dup
|
|
|
NM_000414.4(HSD17B4):c.627T>C (p.Leu209=)
|
rs2126739965
|
|
NM_000414.4(HSD17B4):c.637C>T (p.Leu213=)
|
|
|
NM_000414.4(HSD17B4):c.639G>A (p.Leu213=)
|
|
|
NM_000414.4(HSD17B4):c.642G>A (p.Lys214=)
|
rs968788089
|
|
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)
|
rs552078818
|
|
NM_000414.4(HSD17B4):c.645A>G (p.Pro215=)
|
rs1749876910
|
|
NM_000414.4(HSD17B4):c.651T>C (p.Tyr217=)
|
rs2126740088
|
|
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
|
NM_000414.4(HSD17B4):c.654G>C (p.Val218=)
|
rs2126740113
|
|
NM_000414.4(HSD17B4):c.657A>G (p.Ala219=)
|
|
|
NM_000414.4(HSD17B4):c.657del (p.Pro220fs)
|
rs2126740125
|
|
NM_000414.4(HSD17B4):c.657dup (p.Pro220fs)
|
|
|
NM_000414.4(HSD17B4):c.658C>T (p.Pro220Ser)
|
|
|
NM_000414.4(HSD17B4):c.660T>C (p.Pro220=)
|
|
|
NM_000414.4(HSD17B4):c.666C>T (p.Val222=)
|
rs150677536
|
|
NM_000414.4(HSD17B4):c.669T>C (p.Leu223=)
|
rs2126740206
|
|
NM_000414.4(HSD17B4):c.678T>C (p.Cys226=)
|
rs1242643593
|
|
NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly)
|
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000414.4(HSD17B4):c.682G>T (p.Glu228Ter)
|
rs746702458
|
|
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln)
|
rs762613990
|
|
NM_000414.4(HSD17B4):c.693G>A (p.Glu231=)
|
|
|
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)
|
rs2126740316
|
|
NM_000414.4(HSD17B4):c.6C>G (p.Gly2=)
|
|
|
NM_000414.4(HSD17B4):c.6C>T (p.Gly2=)
|
rs1417491819
|
|
NM_000414.4(HSD17B4):c.705C>T (p.Gly235=)
|
|
|
NM_000414.4(HSD17B4):c.707T>A (p.Leu236Ter)
|
|
|
NM_000414.4(HSD17B4):c.714+10C>G
|
|
|
NM_000414.4(HSD17B4):c.714+14C>T
|
|
|
NM_000414.4(HSD17B4):c.714+15C>T
|
|
|
NM_000414.4(HSD17B4):c.714+1G>C
|
|
|
NM_000414.4(HSD17B4):c.715-10T>C
|
|
|
NM_000414.4(HSD17B4):c.715-13del
|
|
|
NM_000414.4(HSD17B4):c.715-16C>G
|
|
|
NM_000414.4(HSD17B4):c.715-17C>A
|
|
|
NM_000414.4(HSD17B4):c.715-1G>A
|
|
|
NM_000414.4(HSD17B4):c.715-6T>C
|
rs2126751672
|
|
NM_000414.4(HSD17B4):c.715-7T>C
|
rs1750161516
|
|
NM_000414.4(HSD17B4):c.718G>T (p.Gly240Ter)
|
|
|
NM_000414.4(HSD17B4):c.726A>G (p.Gly242=)
|
rs140376279
|
|
NM_000414.4(HSD17B4):c.728G>A (p.Trp243Ter)
|
rs2126751711
|
|
NM_000414.4(HSD17B4):c.72C>T (p.Ala24=)
|
rs2126610379
|
|
NM_000414.4(HSD17B4):c.739+13C>T
|
|
|
NM_000414.4(HSD17B4):c.739+17T>G
|
|
|
NM_000414.4(HSD17B4):c.739+1G>A
|
rs1561456373
|
|
NM_000414.4(HSD17B4):c.739+1G>T
|
|
|
NM_000414.4(HSD17B4):c.739+20dup
|
|
|
NM_000414.4(HSD17B4):c.739+6TC[2]
|
rs1208834876
|
|
NM_000414.4(HSD17B4):c.739+6TC[3]
|
|
|
NM_000414.4(HSD17B4):c.739+7C>A
|
|
|
NM_000414.4(HSD17B4):c.739+8T>C
|
rs2126751803
|
|
NM_000414.4(HSD17B4):c.739+9C>T
|
|
|
NM_000414.4(HSD17B4):c.740-4C>T
|
|
|
NM_000414.4(HSD17B4):c.740-6A>G
|
|
|
NM_000414.4(HSD17B4):c.740-8A>G
|
rs1580606498
|
|
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
|
|
|
NM_000414.4(HSD17B4):c.740T>G (p.Leu247Ter)
|
rs144141837
|
|
NM_000414.4(HSD17B4):c.742C>G (p.Arg248Gly)
|
rs969485098
|
|
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
|
|
|
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
|
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NM_000414.4(HSD17B4):c.753G>A (p.Arg251=)
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NM_000414.4(HSD17B4):c.755C>T (p.Thr252Ile)
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NM_000414.4(HSD17B4):c.75T>C (p.Tyr25=)
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NM_000414.4(HSD17B4):c.761G>A (p.Gly254Glu)
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NM_000414.4(HSD17B4):c.774A>G (p.Arg258=)
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NM_000414.4(HSD17B4):c.784C>G (p.His262Asp)
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NM_000414.4(HSD17B4):c.789A>G (p.Pro263=)
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rs2126758749
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NM_000414.4(HSD17B4):c.78C>T (p.Ala26=)
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rs2126610419
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NM_000414.4(HSD17B4):c.793A>G (p.Thr265Ala)
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NM_000414.4(HSD17B4):c.795T>C (p.Thr265=)
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NM_000414.4(HSD17B4):c.796C>T (p.Pro266Ser)
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rs146555135
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NM_000414.4(HSD17B4):c.801G>A (p.Glu267=)
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NM_000414.4(HSD17B4):c.807C>G (p.Val269=)
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rs1750349863
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NM_000414.4(HSD17B4):c.807C>T (p.Val269=)
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rs1750349863
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NM_000414.4(HSD17B4):c.810G>A (p.Lys270=)
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rs2126758874
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NM_000414.4(HSD17B4):c.813T>C (p.Ala271=)
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NM_000414.4(HSD17B4):c.814A>G (p.Asn272Asp)
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rs2126758919
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NM_000414.4(HSD17B4):c.816C>T (p.Asn272=)
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rs2126758935
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NM_000414.4(HSD17B4):c.818G>A (p.Trp273Ter)
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NM_000414.4(HSD17B4):c.81G>A (p.Leu27=)
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rs1754652365
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NM_000414.4(HSD17B4):c.81G>T (p.Leu27=)
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rs1754652365
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NM_000414.4(HSD17B4):c.828C>T (p.Ile276=)
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NM_000414.4(HSD17B4):c.842A>G (p.Asn281Ser)
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rs1750354718
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NM_000414.4(HSD17B4):c.846C>T (p.Ala282=)
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rs2126759083
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NM_000414.4(HSD17B4):c.847A>T (p.Ser283Cys)
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NM_000414.4(HSD17B4):c.84T>G (p.Ala28=)
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rs2126610452
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NM_000414.4(HSD17B4):c.854C>T (p.Pro285Leu)
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NM_000414.4(HSD17B4):c.857del (p.Gln286fs)
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NM_000414.4(HSD17B4):c.860G>A (p.Ser287Asn)
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NM_000414.4(HSD17B4):c.861T>C (p.Ser287=)
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rs2126759154
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NM_000414.4(HSD17B4):c.864C>A (p.Ile288=)
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NM_000414.4(HSD17B4):c.868+11T>G
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NM_000414.4(HSD17B4):c.868+15C>T
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NM_000414.4(HSD17B4):c.868+16G>A
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NM_000414.4(HSD17B4):c.868+18C>G
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NM_000414.4(HSD17B4):c.868+1del
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rs749532705
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NM_000414.4(HSD17B4):c.868+7A>G
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NM_000414.4(HSD17B4):c.868+8G>A
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rs2126759227
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NM_000414.4(HSD17B4):c.868+9A>G
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NM_000414.4(HSD17B4):c.869-12T>G
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NM_000414.4(HSD17B4):c.869-14A>G
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NM_000414.4(HSD17B4):c.869-15C>T
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NM_000414.4(HSD17B4):c.869-18T>C
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NM_000414.4(HSD17B4):c.869-4T>G
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NM_000414.4(HSD17B4):c.869-7A>G
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NM_000414.4(HSD17B4):c.869-8C>T
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rs1184914279
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NM_000414.4(HSD17B4):c.869-9_869-3del
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NM_000414.4(HSD17B4):c.879C>G (p.Gly293=)
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rs759164470
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NM_000414.4(HSD17B4):c.882T>C (p.Ser294=)
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NM_000414.4(HSD17B4):c.885A>C (p.Ile295=)
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NM_000414.4(HSD17B4):c.889G>T (p.Glu297Ter)
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NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter)
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rs958986994
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NM_000414.4(HSD17B4):c.915A>G (p.Glu305=)
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NM_000414.4(HSD17B4):c.922G>A (p.Val308Ile)
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NM_000414.4(HSD17B4):c.925T>C (p.Ser309Pro)
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NM_000414.4(HSD17B4):c.930A>C (p.Ala310=)
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NM_000414.4(HSD17B4):c.930A>G (p.Ala310=)
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NM_000414.4(HSD17B4):c.934C>T (p.His312Tyr)
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NM_000414.4(HSD17B4):c.936T>C (p.His312=)
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NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)
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rs758055753
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NM_000414.4(HSD17B4):c.939T>C (p.Thr313=)
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rs2126770222
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NM_000414.4(HSD17B4):c.948A>C (p.Ala316=)
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rs192301957
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NM_000414.4(HSD17B4):c.951G>A (p.Thr317=)
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rs779198396
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NM_000414.4(HSD17B4):c.951G>T (p.Thr317=)
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rs779198396
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NM_000414.4(HSD17B4):c.954T>C (p.Ser318=)
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rs1561461048
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NM_000414.4(HSD17B4):c.960A>G (p.Ala320=)
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rs2126770390
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NM_000414.4(HSD17B4):c.963A>C (p.Thr321=)
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rs1750675419
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NM_000414.4(HSD17B4):c.966A>G (p.Ser322=)
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rs2126770408
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NM_000414.4(HSD17B4):c.972+14A>G
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NM_000414.4(HSD17B4):c.972+14A>T
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NM_000414.4(HSD17B4):c.972+15A>G
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NM_000414.4(HSD17B4):c.972+15del
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rs763801604
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NM_000414.4(HSD17B4):c.972+16G>A
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NM_000414.4(HSD17B4):c.972+16G>C
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NM_000414.4(HSD17B4):c.972+18C>G
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NM_000414.4(HSD17B4):c.972+9dup
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NM_000414.4(HSD17B4):c.973-15T>A
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NM_000414.4(HSD17B4):c.978A>G (p.Gly326=)
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NM_000414.4(HSD17B4):c.981T>C (p.Ala327=)
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rs2126780594
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NM_000414.4(HSD17B4):c.981T>G (p.Ala327=)
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