NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
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rs748057401
|
0.00003
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NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val)
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rs550705310
|
0.00002
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NM_000414.4(HSD17B4):c.1210-11C>G
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rs779466683
|
0.00001
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NM_000414.4(HSD17B4):c.1333+1G>C
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rs1369305726
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0.00001
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NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
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rs766199971
|
0.00001
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NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)
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rs587777443
|
0.00001
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NM_000414.4(HSD17B4):c.1574-1G>A
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rs755412738
|
0.00001
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NM_000414.4(HSD17B4):c.280+2T>C
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rs770772281
|
0.00001
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NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
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rs775766910
|
0.00001
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NC_000005.10:g.(?_119514971)_(119542004_?)del
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NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)
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NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
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NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
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NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)
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rs1198548214
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NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)
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NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
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NM_000414.4(HSD17B4):c.1261+1G>T
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NM_000414.4(HSD17B4):c.1262-1G>A
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rs2126806430
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NM_000414.4(HSD17B4):c.1262-1G>C
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NM_000414.4(HSD17B4):c.1262-2A>G
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rs1751692890
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NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs)
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rs1057517045
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NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
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NM_000414.4(HSD17B4):c.1333+1G>A
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NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
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rs137853097
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NM_000414.4(HSD17B4):c.1438-1G>A
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rs1554067009
|
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NM_000414.4(HSD17B4):c.1438-1G>C
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NM_000414.4(HSD17B4):c.1438-2A>C
|
rs1057516273
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NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
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NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
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NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
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NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
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NM_000414.4(HSD17B4):c.1503+1G>A
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NM_000414.4(HSD17B4):c.1504-1G>A
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NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
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NM_000414.4(HSD17B4):c.1573+1G>T
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NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
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NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
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NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)
|
rs201009485
|
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NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)
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NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
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NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=)
|
rs142527052
|
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NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
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NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)
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rs1488399880
|
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NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)
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NM_000414.4(HSD17B4):c.281-2A>G
|
rs1554062343
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NM_000414.4(HSD17B4):c.290del (p.Val97fs)
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NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp)
|
rs1561442127
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NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
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NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
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NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
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rs1554062352
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NM_000414.4(HSD17B4):c.350-1G>T
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NM_000414.4(HSD17B4):c.358del (p.His120fs)
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NM_000414.4(HSD17B4):c.367C>G (p.His123Asp)
|
rs786205574
|
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NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
|
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NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile)
|
rs1085307072
|
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NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His)
|
rs2126702600
|
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NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
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NM_000414.4(HSD17B4):c.59-1G>A
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NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
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NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
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NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
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NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
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NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
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NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)
|
rs2126740316
|
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NM_000414.4(HSD17B4):c.714+1G>C
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NM_000414.4(HSD17B4):c.715-1G>A
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NM_000414.4(HSD17B4):c.739+1G>A
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rs1561456373
|
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NM_000414.4(HSD17B4):c.739+1G>T
|
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NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
|
|
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NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
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|
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NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
|
|
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NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
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NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)
|
|
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