| 基因名 | 突变 |
|---|---|
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118861713A>G,c.1750A>G,p.I584V |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118861666G>A,c.1703G>A,p.R568H |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118860973T>A,c.1641T>A,p.S547R |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118860938T>C,c.1606T>C,p.W536R |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118850709G>A,c.1546G>A,p.A516T |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118842578A>T,c.1402A>T,p.M468L |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118835195A>G,c.1231A>G,p.M411V |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118835033C>T,c.1069C>T,p.L357F |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118813182A>T,c.495A>T,p.K165N |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118813135C>T,c.448C>T,p.R150W |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118811533G>A,c.392G>A,p.R131H |
| HSD17B3(NM_000197,hydroxysteroid (17-beta) dehydrogenase 3,310aa) | g.9:99064314C>T,c.73G>A,p.V25M |
| HSD17B3(NM_000197,hydroxysteroid (17-beta) dehydrogenase 3,310aa) | g.9:99064296C>T,c.91G>A,p.V31I |
| HSD17B3(NM_000197,hydroxysteroid (17-beta) dehydrogenase 3,310aa) | g.9:99064254G>A,c.133C>T,p.R45W |
| HSD17B3(NM_000197,hydroxysteroid (17-beta) dehydrogenase 3,310aa) | g.9:99013764T>C,c.389A>G,p.N130S |
| HSD17B3(NM_000197,hydroxysteroid (17-beta) dehydrogenase 3,310aa) | g.9:98997810C>T,c.865G>A,p.G289S |
| HSD17B2(NM_002153,hydroxysteroid (17-beta) dehydrogenase 2,387aa) | g.16:82132040A>G,c.1163A>G,p.X388W |
| HSD17B2(NM_002153,hydroxysteroid (17-beta) dehydrogenase 2,387aa) | g.16:82131688G>T,c.811G>T,p.G271C |
| HSD17B2(NM_002153,hydroxysteroid (17-beta) dehydrogenase 2,387aa) | g.16:82124561C>G,c.719C>G,p.T240S |
| HSD17B2(NM_002153,hydroxysteroid (17-beta) dehydrogenase 2,387aa) | g.16:82124530G>A,c.688G>A,p.A230T |
| HSD17B2(NM_002153,hydroxysteroid (17-beta) dehydrogenase 2,387aa) | g.16:82124518A>G,c.676A>G,p.M226V |
| HSD17B2(NM_002153,hydroxysteroid (17-beta) dehydrogenase 2,387aa) | g.16:82101963G>T,c.454G>T,p.V152F |
| HSD17B2(NM_002153,hydroxysteroid (17-beta) dehydrogenase 2,387aa) | g.16:82101901G>A,c.392G>A,p.R131H |
| HSD17B2(NM_002153,hydroxysteroid (17-beta) dehydrogenase 2,387aa) | g.16:82069203G>C,c.174G>C,p.L58F |
| HSD17B1(NM_000413,hydroxysteroid (17-beta) dehydrogenase 1,328aa) | g.17:40706906G>A,c.937G>A,p.G313S |
| HSD17B1(NM_000413,hydroxysteroid (17-beta) dehydrogenase 1,328aa) | g.17:40706596C>T,c.713C>T,p.A238V |
| HSD17B1(NM_000413,hydroxysteroid (17-beta) dehydrogenase 1,328aa) | g.17:40706551G>A,c.668G>A,p.S223N |
| HSD17B1(NM_000413,hydroxysteroid (17-beta) dehydrogenase 1,328aa) | g.17:40706455C>T,c.572C>T,p.T191I |