| 基因名 | 突变 |
|---|---|
| HSD3B1(NM_000862,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1,373aa) | g.1:120057246C>A,c.1100C>A,p.T367N |
| HSD3B1(NM_000862,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1,373aa) | g.1:120057158C>T,c.1012C>T,p.L338L |
| HSD3B1(NM_000862,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1,373aa) | g.1:120057002T>C,c.856T>C,p.F286L |
| HSD3B1(NM_000862,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1,373aa) | g.1:120056982G>A,c.836G>A,p.R279H |
| HSD3B1(NM_000862,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1,373aa) | g.1:120056870G>A,c.724G>A,p.D242N |
| HSD3B1(NM_000862,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1,373aa) | g.1:120056678G>A,c.532G>A,p.G178S |
| HSD3B1(NM_000862,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1,373aa) | g.1:120054215A>G,c.235A>G,p.I79V |
| HSD3B1(NM_000862,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1,373aa) | g.1:120054192G>T,c.212G>T,p.R71I |
| HSD17B8(NM_014234,hydroxysteroid (17-beta) dehydrogenase 8,261aa) | g.6:33173276G>A,c.440G>A,p.C147Y |
| HSD17B8(NM_014234,hydroxysteroid (17-beta) dehydrogenase 8,261aa) | g.6:33173227A>G,c.391A>G,p.T131A |
| HSD17B8(NM_014234,hydroxysteroid (17-beta) dehydrogenase 8,261aa) | g.6:33172705G>C,c.79G>C,p.V27L |
| HSD17B8(NM_014234,hydroxysteroid (17-beta) dehydrogenase 8,261aa) | g.6:33172479G>T,c.34G>T,p.A12S |
| HSD17B8(NM_014234,hydroxysteroid (17-beta) dehydrogenase 8,261aa) | g.6:33172446A>G,c.1A>G,p.M1V |
| HSD17B7(NM_016371,hydroxysteroid (17-beta) dehydrogenase 7,341aa) | g.1:162782145A>G,c.961A>G,p.K321E |
| HSD17B7(NM_016371,hydroxysteroid (17-beta) dehydrogenase 7,341aa) | g.1:162773300C>T,c.722C>T,p.T241M |
| HSD17B7(NM_016371,hydroxysteroid (17-beta) dehydrogenase 7,341aa) | g.1:162766415A>G,c.280A>G,p.M94V |
| HSD17B7(NM_016371,hydroxysteroid (17-beta) dehydrogenase 7,341aa) | g.1:162760622G>C,c.32G>C,p.S11T |
| HSD17B6(NM_003725,hydroxysteroid (17-beta) dehydrogenase 6,317aa) | g.12:57181025T>G,c.853T>G,p.W285G |
| HSD17B6(NM_003725,hydroxysteroid (17-beta) dehydrogenase 6,317aa) | g.12:57181002C>T,c.830C>T,p.P277L |
| HSD17B6(NM_003725,hydroxysteroid (17-beta) dehydrogenase 6,317aa) | g.12:57175880T>G,c.436T>G,p.L146V |
| HSD17B6(NM_003725,hydroxysteroid (17-beta) dehydrogenase 6,317aa) | g.12:57167821C>T,c.185C>T,p.T62M |
| HSD17B6(NM_003725,hydroxysteroid (17-beta) dehydrogenase 6,317aa) | g.12:57167752C>T,c.116C>T,p.S39L |
| HSD17B6(NM_003725,hydroxysteroid (17-beta) dehydrogenase 6,317aa) | g.12:57167740C>T,c.104C>T,p.T35M |
| HSD17B6(NM_003725,hydroxysteroid (17-beta) dehydrogenase 6,317aa) | g.12:57167653C>T,c.17C>T,p.A6V |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118877660A>G,c.2257A>G,p.M753V |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118872184C>T,c.2135C>T,p.T712I |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118862843C>A,c.1771C>A,p.P591T |
| HSD17B4(NM_001199291,hydroxysteroid (17-beta) dehydrogenase 4,761aa) | g.5:118862832G>A,c.1760G>A,p.R587H |