| 基因名 | 突变 |
|---|---|
| MDH1B(NM_001039845,malate dehydrogenase 1B, NAD (soluble),518aa) | g.2:207605786A>T,c.1451T>A,p.M484K |
| MDH1B(NM_001039845,malate dehydrogenase 1B, NAD (soluble),518aa) | g.2:207603234T>G,c.1530A>C,p.E510D |
| MDH1B(NM_001039845,malate dehydrogenase 1B, NAD (soluble),518aa) | g.2:207603221T>C,c.1543A>G,p.T515A |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47770670G>A,c.157C>T,p.R53W |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47613374A>C,c.492T>G,p.N164K |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47600946A>G,c.689T>C,p.M230T |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47566114T>C,c.931A>G,p.I311V |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47504387G>A,c.1439C>T,p.A480V |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47426687T>C,c.1772A>G,p.Q591R |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47426686C>G,c.1773G>C,p.Q591H |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47426637C>A,c.1822G>T,p.V608F |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47343265C>T,c.2369G>A,p.R790H |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47315071T>C,c.2680A>G,p.I894V |
| MDGA2(NM_001113498,MAM domain containing glycosylphosphatidylinositol anchor 2,956aa) | g.14:47311166C>T,c.2839G>A,p.V947I |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37631768A>G,c.182T>C,p.L61P |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37631754G>T,c.196C>A,p.P66T |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37622621C>T,c.667G>A,p.G223S |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37619963C>T,c.1136G>A,p.R379H |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37617018G>A,c.1634C>T,p.S545F |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37614993C>T,c.2002G>A,p.D668N |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37614954G>A,c.2041C>T,p.R681C |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37614135G>A,c.2063C>T,p.A688V |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37614044C>G,c.2154G>C,p.E718D |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37612408C>G,c.2266G>C,p.E756Q |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37606390C>T,c.2590G>A,p.A864T |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37606064G>A,c.2693C>T,p.P898L |
| MDGA1(NM_153487,MAM domain containing glycosylphosphatidylinositol anchor 1,955aa) | g.6:37605209G>A,c.2803C>T,p.P935S |
| MDFI(NM_005586,MyoD family inhibitor,246aa) | g.6:41621210A>G,c.638A>G,p.D213G |