| 基因名 | 突变 |
|---|---|
| HMGCS2(NM_005518,3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),508aa) | g.1:120307179G>T,c.175C>A,p.L59M |
| HMGCS2(NM_005518,3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),508aa) | g.1:120307079C>T,c.275G>A,p.R92H |
| HMGCS2(NM_005518,3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),508aa) | g.1:120306834A>G,c.520T>C,p.F174L |
| HMGCS2(NM_005518,3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),508aa) | g.1:120301800C>T,c.791G>A,p.R264Q |
| HMGCS2(NM_005518,3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),508aa) | g.1:120300049C>T,c.863G>A,p.R288Q |
| HMGCS2(NM_005518,3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),508aa) | g.1:120298113G>C,c.1124C>G,p.S375C |
| HMGCS2(NM_005518,3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),508aa) | g.1:120293436G>A,c.1516C>T,p.R506C |
| HMGCS2(NM_005518,3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),508aa) | g.1:120293430C>T,c.1522G>A,p.V508I |
| HMGCS1(NM_001098272,3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble),520aa) | g.5:43298922A>G,c.146T>C,p.I49T |
| HMGCS1(NM_001098272,3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble),520aa) | g.5:43295881C>G,c.878G>C,p.S293T |
| HMGCS1(NM_001098272,3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble),520aa) | g.5:43294192C>T,c.1149G>A,p.L383L |
| HMGCR(NM_000859,3-hydroxy-3-methylglutaryl-CoA reductase,888aa) | g.5:74654512G>C,c.2017G>C,p.E673Q |
| HMGCR(NM_000859,3-hydroxy-3-methylglutaryl-CoA reductase,888aa) | g.5:74652199A>G,c.1912A>G,p.I638V |
| HMGCR(NM_000859,3-hydroxy-3-methylglutaryl-CoA reductase,888aa) | g.5:74647053T>C,c.1102T>C,p.C368R |
| HMGCR(NM_000859,3-hydroxy-3-methylglutaryl-CoA reductase,888aa) | g.5:74646765A>C,c.932A>C,p.Y311S |
| HMGCL(NM_000191,3-hydroxymethyl-3-methylglutaryl-CoA lyase,325aa) | g.1:24144067C>T,c.151G>A,p.V51I |
| HMGCL(NM_000191,3-hydroxymethyl-3-methylglutaryl-CoA lyase,325aa) | g.1:24143173C>T,c.340G>A,p.E114K |
| HMGCL(NM_000191,3-hydroxymethyl-3-methylglutaryl-CoA lyase,325aa) | g.1:24140734T>C,c.443A>G,p.Q148R |
| HMGCLL1(NM_019036,3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1,370aa) | g.6:55406565C>G,c.349G>C,p.E117Q |
| HMGCLL1(NM_019036,3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1,370aa) | g.6:55381350G>A,c.439C>T,p.R147C |
| HMGCLL1(NM_019036,3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1,370aa) | g.6:55360356T>C,c.746A>G,p.D249G |
| HMGCLL1(NM_019036,3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1,370aa) | g.6:55304355C>T,c.888G>A,p.M296I |
| HMGB4(NM_145205,high mobility group box 4,186aa) | g.1:34330321C>T,c.529C>T,p.R177W |
| HMGB4(NM_145205,high mobility group box 4,186aa) | g.1:34330300T>C,c.508T>C,p.Y170H |
| HMGB4(NM_145205,high mobility group box 4,186aa) | g.1:34330137C>A,c.345C>A,p.N115K |
| HMGB4(NM_145205,high mobility group box 4,186aa) | g.1:34330096C>A,c.304C>A,p.L102I |
| HMGB4(NM_145205,high mobility group box 4,186aa) | g.1:34330067A>C,c.275A>C,p.E92A |
| HMGB4(NM_145205,high mobility group box 4,186aa) | g.1:34330045C>T,c.253C>T,p.R85W |