| 基因名 | 突变 |
|---|---|
| HSD17B1(NM_000413,hydroxysteroid (17-beta) dehydrogenase 1,328aa) | g.17:40705868G>C,c.502G>C,p.E168Q |
| HSD17B1(NM_000413,hydroxysteroid (17-beta) dehydrogenase 1,328aa) | g.17:40705010C>T,c.59C>T,p.A20V |
| HSD17B1(NM_000413,hydroxysteroid (17-beta) dehydrogenase 1,328aa) | g.17:40704958C>T,c.7C>T,p.R3C |
| HSD17B14(NM_016246,hydroxysteroid (17-beta) dehydrogenase 14,270aa) | g.19:49339626T>G,c.43A>C,p.T15P |
| HSD17B14(NM_016246,hydroxysteroid (17-beta) dehydrogenase 14,270aa) | g.19:49339623C>A,c.46G>T,p.G16W |
| HSD17B14(NM_016246,hydroxysteroid (17-beta) dehydrogenase 14,270aa) | g.19:49339590G>A,c.79C>T,p.R27C |
| HSD17B14(NM_016246,hydroxysteroid (17-beta) dehydrogenase 14,270aa) | g.19:49339098T>C,c.91A>G,p.N31D |
| HSD17B14(NM_016246,hydroxysteroid (17-beta) dehydrogenase 14,270aa) | g.19:49337604G>A,c.139C>T,p.R47W |
| HSD17B14(NM_016246,hydroxysteroid (17-beta) dehydrogenase 14,270aa) | g.19:49337577C>T,c.166G>A,p.A56T |
| HSD17B14(NM_016246,hydroxysteroid (17-beta) dehydrogenase 14,270aa) | g.19:49337559C>A,c.184G>T,p.D62Y |
| HSD17B14(NM_016246,hydroxysteroid (17-beta) dehydrogenase 14,270aa) | g.19:49318380G>A,c.388C>T,p.R130W |
| HSD17B13(NM_178135,hydroxysteroid (17-beta) dehydrogenase 13,300aa) | g.4:88243884T>A,c.110A>T,p.E37V |
| HSD17B13(NM_178135,hydroxysteroid (17-beta) dehydrogenase 13,300aa) | g.4:88243819G>A,c.175C>T,p.R59X |
| HSD17B13(NM_178135,hydroxysteroid (17-beta) dehydrogenase 13,300aa) | g.4:88236700C>T,c.502G>A,p.V168I |
| HSD17B13(NM_178135,hydroxysteroid (17-beta) dehydrogenase 13,300aa) | g.4:88235097del,c.573del,p.191fs |
| HSD17B13(NM_178135,hydroxysteroid (17-beta) dehydrogenase 13,300aa) | g.4:88231477T>C,c.730A>G,p.R244G |
| HSD17B13(NM_178135,hydroxysteroid (17-beta) dehydrogenase 13,300aa) | g.4:88231429G>A,c.778C>T,p.P260S |
| HSD17B13(NM_178135,hydroxysteroid (17-beta) dehydrogenase 13,300aa) | g.4:88231392_88231393insA,c.812+2insT,p.271Donorins |
| HSD17B13(NM_178135,hydroxysteroid (17-beta) dehydrogenase 13,300aa) | g.4:88226425C>T,c.848G>A,p.R283H |
| HSD17B12(NM_016142,hydroxysteroid (17-beta) dehydrogenase 12,312aa) | g.11:43876771C>G,c.912C>G,p.H304Q |
| HSD17B12(NM_016142,hydroxysteroid (17-beta) dehydrogenase 12,312aa) | g.11:43876698C>T,c.839C>T,p.S280L |
| HSD17B11(NM_016245,hydroxysteroid (17-beta) dehydrogenase 11,300aa) | g.4:88261712G>A,c.742C>T,p.H248Y |
| HSD17B11(NM_016245,hydroxysteroid (17-beta) dehydrogenase 11,300aa) | g.4:88258483T>C,c.848A>G,p.Q283R |
| HSD11B2(NM_000196,hydroxysteroid (11-beta) dehydrogenase 2,405aa) | g.16:67470853G>A,c.1165G>A,p.A389T |
| HSD11B2(NM_000196,hydroxysteroid (11-beta) dehydrogenase 2,405aa) | g.16:67469733C>A,c.468C>A,p.T156T |
| HSD11B1(NM_001206741,hydroxysteroid (11-beta) dehydrogenase 1,292aa) | g.1:209878360G>A,c.73G>A,p.E25K |
| HSCB(NM_172002,HscB mitochondrial iron-sulfur cluster co-chaperone,235aa) | g.22:29139875G>A,c.242G>A,p.R81H |
| HSCB(NM_172002,HscB mitochondrial iron-sulfur cluster co-chaperone,235aa) | g.22:29138301A>G,c.218A>G,p.Y73C |