| 基因名 | 突变 |
|---|---|
| HMCN1(NM_031935,hemicentin 1,5635aa) | g.1:185951489C>T,c.2758C>T,p.P920S |
| HMCN1(NM_031935,hemicentin 1,5635aa) | g.1:185931760G>A,c.1939G>A,p.V647I |
| HMCN1(NM_031935,hemicentin 1,5635aa) | g.1:185897793G>A,c.1546G>A,p.V516I |
| HMCN1(NM_031935,hemicentin 1,5635aa) | g.1:185894295G>A,c.1402G>A,p.V468I |
| HMCN1(NM_031935,hemicentin 1,5635aa) | g.1:185891569G>A,c.959G>A,p.R320Q |
| HMCN1(NM_031935,hemicentin 1,5635aa) | g.1:185880868G>A,c.856G>A,p.V286I |
| HMBS(NM_000190,hydroxymethylbilane synthase,361aa) | g.11:118963869G>A,c.962G>A,p.R321H |
| HMBS(NM_000190,hydroxymethylbilane synthase,361aa) | g.11:118963198C>T,c.736C>T,p.R246C |
| HMBS(NM_000190,hydroxymethylbilane synthase,361aa) | g.11:118962225C>T,c.601C>T,p.R201W |
| HMBS(NM_000190,hydroxymethylbilane synthase,361aa) | g.11:118959391C>T,c.134C>T,p.S45L |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221057786C>G,c.1207C>G,p.Q403E |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221057751C>A,c.1172C>A,p.T391K |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221057739C>G,c.1160C>G,p.A387G |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221057646C>T,c.1067C>T,p.P356L |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221053650G>A,c.451G>A,p.A151T |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221053600A>C,c.401A>C,p.Q134P |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221053574A>C,c.375A>C,p.Q125H |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221053545T>C,c.346T>C,p.S116P |
| HLX(NM_021958,H2.0-like homeobox,488aa) | g.1:221053344A>G,c.145A>G,p.I49V |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148802471C>T,c.226G>A,p.V76I |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148789128C>T,c.805G>A,p.D269N |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148789127T>C,c.806A>G,p.D269G |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148786085T>C,c.932A>G,p.N311S |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148782629T>C,c.1015A>G,p.M339V |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148781246A>T,c.1132T>A,p.S378T |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148778571A>T,c.1235T>A,p.M412K |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148773115G>A,c.1448C>T,p.P483L |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148764044C>T,c.1895G>A,p.R632H |