| 基因名 | 突变 |
|---|---|
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57627600C>T,c.1129C>T,p.R377W |
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57626297G>A,c.593G>A,p.R198Q |
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57625545C>T,c.298C>T,p.R100C |
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57624758G>A,c.143G>A,p.R48H |
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57624701C>T,c.86C>T,p.S29L |
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57624696C>G,c.81C>G,p.S27R |
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57624623T>C,c.8T>C,p.I3T |
| SHMT1(NM_004169,serine hydroxymethyltransferase 1 (soluble),483aa) | g.17:18259294A>C,c.2T>G,p.M1R |
| SHMT1(NM_004169,serine hydroxymethyltransferase 1 (soluble),483aa) | g.17:18257104T>C,c.124A>G,p.N42D |
| SHMT1(NM_004169,serine hydroxymethyltransferase 1 (soluble),483aa) | g.17:18243524T>C,c.647A>G,p.K216R |
| SHMT1(NM_004169,serine hydroxymethyltransferase 1 (soluble),483aa) | g.17:18232693C>T,c.1181G>A,p.S394N |
| SHMT1(NM_004169,serine hydroxymethyltransferase 1 (soluble),483aa) | g.17:18232684C>T,c.1190G>A,p.R397Q |
| SHMT1(NM_004169,serine hydroxymethyltransferase 1 (soluble),483aa) | g.17:18232096G>A,c.1420C>T,p.L474F |
| SHKBP1(NM_138392,SH3KBP1 binding protein 1,707aa) | g.19:41096962G>A,c.1973G>A,p.R658H |
| SHKBP1(NM_138392,SH3KBP1 binding protein 1,707aa) | g.19:41096958C>T,c.1969C>T,p.R657C |
| SHKBP1(NM_138392,SH3KBP1 binding protein 1,707aa) | g.19:41096200T>C,c.1640T>C,p.V547A |
| SHKBP1(NM_138392,SH3KBP1 binding protein 1,707aa) | g.19:41094563C>G,c.1370C>G,p.S457C |
| SHKBP1(NM_138392,SH3KBP1 binding protein 1,707aa) | g.19:41086528G>A,c.619G>A,p.A207T |
| SHKBP1(NM_138392,SH3KBP1 binding protein 1,707aa) | g.19:41086499G>A,c.590G>A,p.R197H |
| SHKBP1(NM_138392,SH3KBP1 binding protein 1,707aa) | g.19:41086305G>A,c.476G>A,p.R159Q |
| SHKBP1(NM_138392,SH3KBP1 binding protein 1,707aa) | g.19:41086245G>A,c.416G>A,p.R139Q |
| SHISA9(NM_001145204,shisa family member 9,424aa) | g.16:13297398A>G,c.839A>G,p.K280R |
| SHISA9(NM_001145204,shisa family member 9,424aa) | g.16:13297286C>T,c.727C>T,p.P243S |
| SHISA9(NM_001145204,shisa family member 9,424aa) | g.16:13297254C>G,c.695C>G,p.A232G |
| SHISA9(NM_001145204,shisa family member 9,424aa) | g.16:12996399G>T,c.478G>T,p.V160L |
| SHISA8(NM_001207020,shisa family member 8,397aa) | g.22:42307226T>C,c.658A>G,p.S220G |
| SHISA8(NM_001207020,shisa family member 8,397aa) | g.22:42306004G>A,c.959C>T,p.A320V |
| SHISA6(NM_207386,shisa family member 6,551aa) | g.17:11461191G>A,c.1226G>A,p.R409Q |