NM_000414.4(HSD17B4):c.1767+57C>T
|
rs2636961
|
0.62409
|
NM_000414.4(HSD17B4):c.434+120A>G
|
rs463513
|
0.51367
|
NM_000414.4(HSD17B4):c.1261+47A>G
|
rs455949
|
0.44330
|
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.434+44T>C
|
rs457106
|
0.36386
|
NM_000414.4(HSD17B4):c.1210-78T>C
|
rs257969
|
0.27308
|
NM_000414.4(HSD17B4):c.1993+74G>C
|
rs17145464
|
0.27235
|
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)
|
rs11539471
|
0.14167
|
NM_000414.4(HSD17B4):c.2122-34C>T
|
rs28943593
|
0.09221
|
NM_000414.4(HSD17B4):c.*260A>G
|
rs28943596
|
0.05395
|
NM_000414.4(HSD17B4):c.739+23T>C
|
rs6895345
|
0.04079
|
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.*6A>G
|
rs111671384
|
0.00777
|
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)
|
rs150677536
|
0.00351
|
NM_000414.4(HSD17B4):c.-28C>T
|
rs34353289
|
0.00334
|
NM_000414.4(HSD17B4):c.*278T>A
|
rs149665666
|
0.00333
|
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.*83T>G
|
rs181310520
|
0.00199
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
0.00123
|
NM_000414.3(HSD17B4):c.-119C>G
|
rs11739468
|
0.00087
|
NM_000414.4(HSD17B4):c.*135T>G
|
rs185522709
|
0.00065
|
NM_000414.4(HSD17B4):c.*134C>T
|
rs543194892
|
0.00034
|
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)
|
rs192301957
|
0.00034
|
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.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000414.3(HSD17B4):c.-130C>T
|
rs536737707
|
0.00020
|
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.1317A>G (p.Val439=)
|
rs771922933
|
0.00011
|
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)
|
rs149283499
|
0.00011
|
NM_000414.4(HSD17B4):c.112+11G>A
|
rs775970480
|
0.00007
|
NM_000414.4(HSD17B4):c.622+5G>A
|
rs536487449
|
0.00006
|
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.113-2206T>C
|
rs541081959
|
0.00004
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly)
|
rs769358132
|
0.00004
|
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser)
|
rs372914814
|
0.00004
|
NM_000414.4(HSD17B4):c.*235T>C
|
rs553631151
|
0.00003
|
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val)
|
rs757346346
|
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.1452A>G (p.Ile484Met)
|
rs376158204
|
0.00003
|
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)
|
rs201009485
|
0.00003
|
NM_000414.4(HSD17B4):c.1663A>G (p.Arg555Gly)
|
rs561555159
|
0.00003
|
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)
|
rs771009588
|
0.00003
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
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.109G>A (p.Val37Ile)
|
rs747214551
|
0.00002
|
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe)
|
rs746616691
|
0.00002
|
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln)
|
rs901553037
|
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.268T>C (p.Phe90Leu)
|
rs28943588
|
0.00002
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=)
|
rs762731834
|
0.00002
|
NC_000005.9:g.118829592G>T
|
rs368744809
|
0.00001
|
NM_000414.4(HSD17B4):c.*123A>G
|
rs956800775
|
0.00001
|
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=)
|
rs778708979
|
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.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)
|
rs764406724
|
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.1574-1G>A
|
rs755412738
|
0.00001
|
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)
|
rs758045328
|
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.1854+7T>C
|
rs886059822
|
0.00001
|
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=)
|
rs745478996
|
0.00001
|
NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val)
|
rs1385683079
|
0.00001
|
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)
|
rs368915056
|
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.2033G>A (p.Gly678Asp)
|
rs1456658488
|
0.00001
|
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
|
rs771510541
|
0.00001
|
NM_000414.4(HSD17B4):c.2122-2A>G
|
rs1341761252
|
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.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
NM_000414.4(HSD17B4):c.571A>G (p.Thr191Ala)
|
rs1397379413
|
0.00001
|
NM_000414.4(HSD17B4):c.58+121A>G
|
rs775377217
|
0.00001
|
NM_000414.4(HSD17B4):c.58+123G>C
|
rs762157656
|
0.00001
|
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=)
|
rs770261826
|
0.00001
|
NM_000414.4(HSD17B4):c.614T>C (p.Met205Thr)
|
rs761601392
|
0.00001
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)
|
rs773024366
|
0.00001
|
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr)
|
rs543710228
|
0.00001
|
GRCh37/hg19 5q23.1(chr5:118811401-118814716)
|
|
|
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
|
|
|
NM_000414.4(HSD17B4):c.*250dup
|
rs34381335
|
|
NM_000414.4(HSD17B4):c.-27G>C
|
rs34604765
|
|
NM_000414.4(HSD17B4):c.-75C>A
|
rs26180
|
|
NM_000414.4(HSD17B4):c.-75C>G
|
rs26180
|
|
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys)
|
rs2126780758
|
|
NM_000414.4(HSD17B4):c.1121del (p.Leu374fs)
|
rs2126781231
|
|
NM_000414.4(HSD17B4):c.113-1G>T
|
rs1224475289
|
|
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg)
|
rs1006852881
|
|
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
|
|
|
NM_000414.4(HSD17B4):c.1210-1G>A
|
rs1554065671
|
|
NM_000414.4(HSD17B4):c.1210-7A>G
|
rs1751214001
|
|
NM_000414.4(HSD17B4):c.1212_1261+2del
|
rs1554065670
|
|
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)
|
|
|
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)
|
rs2126790164
|
|
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter)
|
rs1057516735
|
|
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs)
|
rs1057517045
|
|
NM_000414.4(HSD17B4):c.1334-2A>T
|
rs1554066421
|
|
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.1383_1384del (p.Phe462fs)
|
rs2126814260
|
|
NM_000414.4(HSD17B4):c.1414_1416del (p.Lys472del)
|
rs1751942272
|
|
NM_000414.4(HSD17B4):c.1438-2A>C
|
rs1057516273
|
|
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs)
|
rs1057516859
|
|
NM_000414.4(HSD17B4):c.145_220+63del
|
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)
|
|
|
NM_000414.4(HSD17B4):c.1503+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1504-2A>C
|
rs1554068134
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)
|
rs587777444
|
|
NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg)
|
rs1753477498
|
|
NM_000414.4(HSD17B4):c.1573+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1574G>T (p.Gly525Val)
|
rs1554068261
|
|
NM_000414.4(HSD17B4):c.1586C>T (p.Pro529Leu)
|
rs1554068269
|
|
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)
|
rs1554068272
|
|
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp)
|
rs141517981
|
|
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)
|
rs201009485
|
|
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)
|
rs1057517323
|
|
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)
|
|
|
NM_000414.4(HSD17B4):c.1636C>T (p.Gln546Ter)
|
|
|
NM_000414.4(HSD17B4):c.1681-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1681G>C (p.Ala561Pro)
|
|
|
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)
|
rs1239645507
|
|
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)
|
rs1057516936
|
|
NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)
|
|
|
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs)
|
rs1554068426
|
|
NM_000414.4(HSD17B4):c.1768-1G>A
|
|
|
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)
|
|
|
NM_000414.4(HSD17B4):c.178GAA[1] (p.Glu61del)
|
rs1554062119
|
|
NM_000414.4(HSD17B4):c.1854+2T>C
|
|
|
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs)
|
rs1057516312
|
|
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs)
|
rs1057517152
|
|
NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)
|
|
|
NM_000414.4(HSD17B4):c.1984del (p.Ala662fs)
|
rs2126896727
|
|
NM_000414.4(HSD17B4):c.1993+1G>A
|
rs1580711803
|
|
NM_000414.4(HSD17B4):c.1993+2T>G
|
rs1554068960
|
|
NM_000414.4(HSD17B4):c.1994-1G>A
|
|
|
NM_000414.4(HSD17B4):c.1994-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1994-2A>G
|
rs1554069592
|
|
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)
|
rs751646311
|
|
NM_000414.4(HSD17B4):c.2059del (p.Thr687fs)
|
|
|
NM_000414.4(HSD17B4):c.2071dup (p.Ser691fs)
|
|
|
NM_000414.4(HSD17B4):c.2072C>G (p.Ser691Ter)
|
|
|
NM_000414.4(HSD17B4):c.2121+1G>A
|
|
|
NM_000414.4(HSD17B4):c.2121+1G>C
|
rs1554069610
|
|
NM_000414.4(HSD17B4):c.2122-9T>C
|
rs573283226
|
|
NM_000414.4(HSD17B4):c.212_216del (p.Ala71fs)
|
|
|
NM_000414.4(HSD17B4):c.2130dup (p.Ser711Ter)
|
rs1554070146
|
|
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys)
|
rs1554062124
|
|
NM_000414.4(HSD17B4):c.220+2T>C
|
rs1231357043
|
|
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)
|
rs1755036404
|
|
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
|
|
|
NM_000414.4(HSD17B4):c.221-1G>C
|
rs1554062168
|
|
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)
|
rs1276397342
|
|
NM_000414.4(HSD17B4):c.280+1_280+3del
|
rs2126684546
|
|
NM_000414.4(HSD17B4):c.281-2A>G
|
rs1554062343
|
|
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs)
|
rs1057516672
|
|
NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)
|
|
|
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
|
rs1554062352
|
|
NM_000414.4(HSD17B4):c.302+3_302+6del
|
rs863225438
|
|
NM_000414.4(HSD17B4):c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT
|
rs2126689896
|
|
NM_000414.4(HSD17B4):c.303-1G>A
|
|
|
NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys)
|
|
|
NM_000414.4(HSD17B4):c.317G>C (p.Arg106Pro)
|
rs25640
|
|
NM_000414.4(HSD17B4):c.349+1G>T
|
rs1057516958
|
|
NM_000414.4(HSD17B4):c.350-1G>A
|
|
|
NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)
|
|
|
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)
|
rs1748692405
|
|
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)
|
|
|
NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs)
|
rs775832137
|
|
NM_000414.4(HSD17B4):c.435-2A>G
|
|
|
NM_000414.4(HSD17B4):c.435-2A>T
|
rs1171426785
|
|
NM_000414.4(HSD17B4):c.523G>A (p.Ala175Thr)
|
rs1554062814
|
|
NM_000414.4(HSD17B4):c.58+127_58+129del
|
rs1394106982
|
|
NM_000414.4(HSD17B4):c.58+189G>C
|
rs1554059562
|
|
NM_000414.4(HSD17B4):c.58+189del
|
rs1554059560
|
|
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)
|
|
|
NM_000414.4(HSD17B4):c.59-1G>A
|
|
|
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs)
|
rs1057516310
|
|
NM_000414.4(HSD17B4):c.623-1G>A
|
rs1554064083
|
|
NM_000414.4(HSD17B4):c.623-2A>G
|
|
|
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)
|
rs552078818
|
|
NM_000414.4(HSD17B4):c.643C>T (p.Pro215Ser)
|
rs552078818
|
|
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
|
NM_000414.4(HSD17B4):c.661C>T (p.Leu221Phe)
|
rs1554064092
|
|
NM_000414.4(HSD17B4):c.666C>T (p.Val222=)
|
rs150677536
|
|
NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe)
|
rs1749881286
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs)
|
rs1057516750
|
|
NM_000414.4(HSD17B4):c.715-1G>A
|
|
|
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg)
|
rs886059821
|
|
NM_000414.4(HSD17B4):c.725del (p.Gly242fs)
|
|
|
NM_000414.4(HSD17B4):c.739+1G>A
|
rs1561456373
|
|
NM_000414.4(HSD17B4):c.739+2T>C
|
|
|
NM_000414.4(HSD17B4):c.739+2dup
|
rs1554064396
|
|
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
|
|
|
NM_000414.4(HSD17B4):c.788del (p.Pro263fs)
|
rs1561457987
|
|
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)
|
rs1750354958
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000414.4(HSD17B4):c.869-4T>A
|
rs1257077894
|
|
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter)
|
rs1057516269
|
|
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)
|
rs758055753
|
|
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=)
|
rs779198396
|
|
NM_000414.4(HSD17B4):c.972+1G>A
|
|
|
NM_000414.4(HSD17B4):c.972+1del
|
|
|
NM_000414.4(HSD17B4):c.973-2A>C
|
rs1057517118
|
|
NM_000414.4(HSD17B4):c.974_1209+1del
|
rs1554065254
|
|