| 基因名 | 突变 |
|---|---|
| SLC25A45(NM_001278251,solute carrier family 25, member 45,246aa) | g.11:65143993C>T,c.626G>A,p.R209Q |
| SLC25A45(NM_001278251,solute carrier family 25, member 45,246aa) | g.11:65143931C>T,c.688G>A,p.V230I |
| SLC25A45(NM_001278251,solute carrier family 25, member 45,246aa) | g.11:65143892G>A,c.727C>T,p.R243C |
| SLC25A45(NM_001278251,solute carrier family 25, member 45,246aa) | g.11:65143891C>T,c.728G>A,p.R243H |
| SLC25A44(NM_014655,solute carrier family 25, member 44,314aa) | g.1:156170112A>T,c.474A>T,p.Q158H |
| SLC25A44(NM_014655,solute carrier family 25, member 44,314aa) | g.1:156170093G>A,c.455G>A,p.R152Q |
| SLC25A44(NM_014655,solute carrier family 25, member 44,314aa) | g.1:156170059C>T,c.421C>T,p.R141C |
| SLC25A43(NM_145305,solute carrier family 25, member 43,341aa) | g.X:118587003C>T,c.1001C>T,p.P334L |
| SLC25A43(NM_145305,solute carrier family 25, member 43,341aa) | g.X:118544162C>T,c.527C>T,p.P176L |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6433629G>C,c.76C>G,p.L26V |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6433548C>T,c.157G>A,p.A53T |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6433547G>A,c.158C>T,p.A53V |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6432112G>A,c.311C>T,p.A104V |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6432100G>A,c.323C>T,p.T108M |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6430106C>T,c.430G>A,p.G144S |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6427499C>T,c.638G>A,p.R213Q |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6427496A>C,c.641T>G,p.L214W |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6427484C>T,c.653G>A,p.R218Q |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6427481G>T,c.656C>A,p.T219K |
| SLC25A41(NM_173637,solute carrier family 25, member 41,370aa) | g.19:6427452C>T,c.685G>A,p.A229T |
| SLC25A40(NM_018843,solute carrier family 25, member 40,338aa) | g.7:87479214C>T,c.314G>A,p.S105N |
| SLC25A40(NM_018843,solute carrier family 25, member 40,338aa) | g.7:87477257G>A,c.368C>T,p.T123I |
| SLC25A40(NM_018843,solute carrier family 25, member 40,338aa) | g.7:87476339T>G,c.556A>C,p.K186Q |
| SLC25A40(NM_018843,solute carrier family 25, member 40,338aa) | g.7:87466068T>G,c.881A>C,p.N294T |
| SLC25A40(NM_018843,solute carrier family 25, member 40,338aa) | g.7:87465580C>T,c.1001G>A,p.R334Q |
| SLC25A39(NM_001143780,solute carrier family 25, member 39,359aa) | g.17:42399875T>C,c.236A>G,p.N79S |
| SLC25A39(NM_001143780,solute carrier family 25, member 39,359aa) | g.17:42399117C>T,c.343G>A,p.V115M |
| SLC25A39(NM_001143780,solute carrier family 25, member 39,359aa) | g.17:42399071G>A,c.389C>T,p.T130I |