| 基因名 | 突变 |
|---|---|
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148759369T>C,c.2284A>G,p.I762V |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148757880G>A,c.2440C>T,p.P814S |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148757864C>T,c.2456G>A,p.R819H |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148756933G>C,c.2699C>G,p.T900S |
| HLTF(NM_003071,helicase-like transcription factor,1009aa) | g.3:148750077G>A,c.2960C>T,p.T987I |
| HLF(NM_002126,hepatic leukemia factor,295aa) | g.17:53398146C>T,c.794C>T,p.S265L |
| HLF(NM_002126,hepatic leukemia factor,295aa) | g.17:53392728C>T,c.592C>T,p.R198C |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38309619C>A,c.126G>T,p.E42D |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38309459C>T,c.286G>A,p.V96I |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38309272G>A,c.473C>T,p.T158M |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38309072T>C,c.673A>G,p.I225V |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38309038T>C,c.707A>G,p.Y236C |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38308895C>T,c.850G>A,p.V284I |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38308855C>T,c.890G>A,p.R297Q |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38308774C>T,c.971G>A,p.R324H |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38269241C>T,c.1370G>A,p.R457H |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38269209C>G,c.1402G>C,p.V468L |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38269172C>T,c.1439G>A,p.R480H |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38137471G>A,c.1522C>T,p.R508W |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38137345C>T,c.1648G>A,p.V550M |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38132112C>T,c.1711G>A,p.D571N |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38128961A>C,c.1891T>G,p.L631V |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38128952C>T,c.1900G>A,p.D634N |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38128948T>C,c.1904A>G,p.Y635C |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38128931C>T,c.1921G>A,p.V641M |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38126555G>A,c.2173C>T,p.R725W |
| HLCS(NM_001242784,holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase),726aa) | g.21:38126554C>T,c.2174G>A,p.R725Q |
| HLA-G(NM_002127,major histocompatibility complex, class I, G,338aa) | g.6:29798157T>A,c.1015T>A,p.X339R |