| 基因名 | 突变 |
|---|---|
| SLC25A27(NM_004277,solute carrier family 25, member 27,323aa) | g.6:46632524C>T,c.520C>T,p.H174Y |
| SLC25A27(NM_004277,solute carrier family 25, member 27,323aa) | g.6:46630235G>A,c.506G>A,p.R169Q |
| SLC25A27(NM_004277,solute carrier family 25, member 27,323aa) | g.6:46630156T>C,c.427T>C,p.F143L |
| SLC25A27(NM_004277,solute carrier family 25, member 27,323aa) | g.6:46623768G>A,c.295G>A,p.V99I |
| SLC25A26(NM_173471,solute carrier family 25 (S-adenosylmethionine carrier), member 26,274aa) | g.3:66420996A>G,c.677A>G,p.H226R |
| SLC25A26(NM_173471,solute carrier family 25 (S-adenosylmethionine carrier), member 26,274aa) | g.3:66419956C>T,c.623C>T,p.T208M |
| SLC25A26(NM_173471,solute carrier family 25 (S-adenosylmethionine carrier), member 26,274aa) | g.3:66313795T>G,c.445T>G,p.L149V |
| SLC25A26(NM_173471,solute carrier family 25 (S-adenosylmethionine carrier), member 26,274aa) | g.3:66293701A>G,c.265A>G,p.M89V |
| SLC25A26(NM_173471,solute carrier family 25 (S-adenosylmethionine carrier), member 26,274aa) | g.3:66287056G>A,c.122G>A,p.S41N |
| SLC25A25(NM_001265614,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25,501aa) | g.9:130869557C>T,c.1340C>T,p.P447L |
| SLC25A25(NM_001265614,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25,501aa) | g.9:130868670G>C,c.1041G>C,p.Q347H |
| SLC25A25(NM_001265614,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25,501aa) | g.9:130863466G>A,c.311G>A,p.R104K |
| SLC25A25(NM_001265614,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25,501aa) | g.9:130854231G>A,c.82G>A,p.E28K |
| SLC25A24(NM_013386,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24,477aa) | g.1:108742660T>C,c.101A>G,p.N34S |
| SLC25A24(NM_013386,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24,477aa) | g.1:108703823C>T,c.491G>A,p.R164H |
| SLC25A24(NM_013386,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24,477aa) | g.1:108697684C>T,c.743G>A,p.R248H |
| SLC25A24(NM_013386,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24,477aa) | g.1:108681808T>C,c.1121A>G,p.D374G |
| SLC25A23(NM_024103,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23,468aa) | g.19:6458293C>T,c.199G>A,p.D67N |
| SLC25A23(NM_024103,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23,468aa) | g.19:6454440C>T,c.689G>A,p.R230Q |
| SLC25A23(NM_024103,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23,468aa) | g.19:6454414G>A,c.715C>T,p.R239C |
| SLC25A23(NM_024103,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23,468aa) | g.19:6454413C>T,c.716G>A,p.R239H |
| SLC25A23(NM_024103,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23,468aa) | g.19:6454045C>T,c.850G>A,p.V284M |
| SLC25A23(NM_024103,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23,468aa) | g.19:6452423C>T,c.971G>A,p.R324H |
| SLC25A23(NM_024103,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23,468aa) | g.19:6452325C>T,c.1069G>A,p.E357K |
| SLC25A23(NM_024103,solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23,468aa) | g.19:6444176C>T,c.1208G>A,p.R403H |
| SLC25A22(NM_001191060,solute carrier family 25 (mitochondrial carrier: glutamate), member 22,323aa) | g.11:794782G>A,c.140C>T,p.T47M |
| SLC25A22(NM_001191060,solute carrier family 25 (mitochondrial carrier: glutamate), member 22,323aa) | g.11:792692G>C,c.448C>G,p.L150V |
| SLC25A22(NM_001191060,solute carrier family 25 (mitochondrial carrier: glutamate), member 22,323aa) | g.11:792640C>T,c.500G>A,p.R167Q |