NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn)
|
rs142527052
|
0.00009
|
NM_000414.4(HSD17B4):c.58+190T>A
|
rs1001866915
|
0.00006
|
NM_000414.4(HSD17B4):c.1216C>T (p.His406Tyr)
|
rs371585154
|
0.00004
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn)
|
rs191468413
|
0.00002
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val)
|
rs550705310
|
0.00002
|
NC_000005.9:g.118829592G>T
|
rs368744809
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000414.4(HSD17B4):c.1333+1G>C
|
rs1369305726
|
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.1574-1G>A
|
rs755412738
|
0.00001
|
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
|
rs771510541
|
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.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)
|
rs773024366
|
0.00001
|
NC_000005.10:g.(?_119514971)_(119542004_?)del
|
|
|
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
|
|
|
NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)
|
|
|
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
|
|
|
NM_000414.4(HSD17B4):c.1035del (p.Met346fs)
|
rs2126780815
|
|
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
|
|
|
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)
|
rs1198548214
|
|
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.1135_1136insACTGTCTC (p.Val379fs)
|
|
|
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
|
|
|
NM_000414.4(HSD17B4):c.1210-1G>A
|
rs1554065671
|
|
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)
|
|
|
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
|
|
|
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)
|
rs2126790164
|
|
NM_000414.4(HSD17B4):c.1261+1G>T
|
|
|
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.1268T>G (p.Leu423Ter)
|
rs1057516735
|
|
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs)
|
rs1057517045
|
|
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
|
|
|
NM_000414.4(HSD17B4):c.1333+1G>A
|
|
|
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.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.1440_1441del (p.Ala481fs)
|
rs1057516859
|
|
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
|
|
|
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
|
|
|
NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)
|
|
|
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
|
|
|
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
|
|
|
NM_000414.4(HSD17B4):c.1503+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1504-1G>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.1544A>G (p.His515Arg)
|
rs1753477498
|
|
NM_000414.4(HSD17B4):c.1573+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1573+1G>T
|
|
|
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)
|
rs1554068272
|
|
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
|
|
|
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
|
|
|
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.1660_1661del (p.Ser554fs)
|
|
|
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
|
|
|
NM_000414.4(HSD17B4):c.1681-1G>C
|
|
|
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.1767G>A (p.Lys589=)
|
rs142527052
|
|
NM_000414.4(HSD17B4):c.1768-1G>A
|
|
|
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)
|
|
|
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
|
|
|
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.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.1A>C (p.Met1Leu)
|
rs1488399880
|
|
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.212_216del (p.Ala71fs)
|
|
|
NM_000414.4(HSD17B4):c.2179_2180del (p.Gln727fs)
|
rs1057519212
|
|
NM_000414.4(HSD17B4):c.2179_2183delinsAAA (p.Gln727fs)
|
rs1057519420
|
|
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.241A>T (p.Lys81Ter)
|
|
|
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.290del (p.Val97fs)
|
|
|
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp)
|
rs1561442127
|
|
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.297_298delinsCAT (p.Ala100fs)
|
|
|
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
|
rs1554062352
|
|
NM_000414.4(HSD17B4):c.302+1G>A
|
rs2126689875
|
|
NM_000414.4(HSD17B4):c.303-1G>A
|
|
|
NM_000414.4(HSD17B4):c.346T>C (p.Trp116Arg)
|
rs1748532789
|
|
NM_000414.4(HSD17B4):c.349+1G>T
|
rs1057516958
|
|
NM_000414.4(HSD17B4):c.350-1G>A
|
|
|
NM_000414.4(HSD17B4):c.350-1G>T
|
|
|
NM_000414.4(HSD17B4):c.358del (p.His120fs)
|
|
|
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp)
|
rs786205574
|
|
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
|
|
|
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)
|
|
|
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile)
|
rs1085307072
|
|
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
|
rs2126696915
|
|
NM_000414.4(HSD17B4):c.434+1G>C
|
rs2126696991
|
|
NM_000414.4(HSD17B4):c.435-2A>G
|
|
|
NM_000414.4(HSD17B4):c.435-2A>T
|
rs1171426785
|
|
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His)
|
rs2126702600
|
|
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)
|
|
|
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
|
|
|
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.623-1G>T
|
rs1554064083
|
|
NM_000414.4(HSD17B4):c.623-2A>G
|
|
|
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
|
|
|
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
|
|
|
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
|
|
|
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
|
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
|
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)
|
rs2126740316
|
|
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs)
|
rs1057516750
|
|
NM_000414.4(HSD17B4):c.714+1G>C
|
|
|
NM_000414.4(HSD17B4):c.715-1G>A
|
|
|
NM_000414.4(HSD17B4):c.725del (p.Gly242fs)
|
|
|
NM_000414.4(HSD17B4):c.739+1G>A
|
rs1561456373
|
|
NM_000414.4(HSD17B4):c.739+1G>T
|
|
|
NM_000414.4(HSD17B4):c.739+2T>C
|
|
|
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
|
|
|
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
|
|
|
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
|
|
|
NM_000414.4(HSD17B4):c.788del (p.Pro263fs)
|
rs1561457987
|
|
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
|
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
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.947_948del (p.Ala316fs)
|
|
|
NM_000414.4(HSD17B4):c.972+1G>A
|
|
|
NM_000414.4(HSD17B4):c.972+1del
|
|
|
NM_000414.4(HSD17B4):c.973-2A>C
|
rs1057517118
|
|