| Genename | Variants |
|---|---|
| ALAS1(NM_000688,aminolevulinate, delta-, synthase 1,640aa) | g.3:52245523G>A,c.1555G>A,p.G519S |
| ALAS1(NM_000688,aminolevulinate, delta-, synthase 1,640aa) | g.3:52245437G>A,c.1469G>A,p.R490Q |
| ALAS1(NM_000688,aminolevulinate, delta-, synthase 1,640aa) | g.3:52240672G>A,c.1070G>A,p.R357H |
| ALAS1(NM_000688,aminolevulinate, delta-, synthase 1,640aa) | g.3:52238913G>A,c.782G>A,p.R261Q |
| ALAS1(NM_000688,aminolevulinate, delta-, synthase 1,640aa) | g.3:52236528A>G,c.205A>G,p.K69E |
| ALAS1(NM_000688,aminolevulinate, delta-, synthase 1,640aa) | g.3:52233450A>G,c.193A>G,p.S65G |
| ALAS1(NM_000688,aminolevulinate, delta-, synthase 1,640aa) | g.3:52233295G>A,c.38G>A,p.R13Q |
| ALAD(NM_000031,aminolevulinate dehydratase,330aa) | g.9:116153891C>G,c.177G>C,p.K59N |
| ALAD(NM_000031,aminolevulinate dehydratase,330aa) | g.9:116153827C>T,c.241G>A,p.V81I |
| ALAD(NM_000031,aminolevulinate dehydratase,330aa) | g.9:116153198C>T,c.277G>A,p.A93T |
| ALAD(NM_000031,aminolevulinate dehydratase,330aa) | g.9:116152077G>A,c.602C>T,p.A201V |
| ALAD(NM_000031,aminolevulinate dehydratase,330aa) | g.9:116151901C>T,c.692G>A,p.R231Q |
| ALAD(NM_000031,aminolevulinate dehydratase,330aa) | g.9:116151344A>G,c.844T>C,p.F282L |
| AKTIP(NM_001012398,AKT interacting protein,292aa) | g.16:53532453C>T,c.98G>A,p.R33Q |
| AKTIP(NM_001012398,AKT interacting protein,292aa) | g.16:53528057C>T,c.703G>A,p.A235T |
| AKT2(NM_001626,v-akt murine thymoma viral oncogene homolog 2,481aa) | g.19:40762862A>G,c.146T>C,p.L49P |
| AKT2(NM_001626,v-akt murine thymoma viral oncogene homolog 2,481aa) | g.19:40748535C>G,c.347G>C,p.G116A |
| AKT2(NM_001626,v-akt murine thymoma viral oncogene homolog 2,481aa) | g.19:40748517T>C,c.365A>G,p.Y122C |
| AKT2(NM_001626,v-akt murine thymoma viral oncogene homolog 2,481aa) | g.19:40747856T>C,c.562A>G,p.I188V |
| AKT2(NM_001626,v-akt murine thymoma viral oncogene homolog 2,481aa) | g.19:40745968C>T,c.623G>A,p.R208K |
| AKT2(NM_001626,v-akt murine thymoma viral oncogene homolog 2,481aa) | g.19:40741998T>C,c.974A>G,p.N325S |
| AKT1S1(NM_032375,AKT1 substrate 1 (proline-rich),276aa) | g.19:50376485C>T,c.128G>A,p.R43Q |
| AKT1S1(NM_032375,AKT1 substrate 1 (proline-rich),276aa) | g.19:50376374C>T,c.239G>A,p.R80H |
| AKT1S1(NM_032375,AKT1 substrate 1 (proline-rich),276aa) | g.19:50376237C>G,c.376G>C,p.D126H |
| AKT1S1(NM_032375,AKT1 substrate 1 (proline-rich),276aa) | g.19:50376204C>T,c.409G>A,p.G137R |
| AKT1S1(NM_032375,AKT1 substrate 1 (proline-rich),276aa) | g.19:50376188A>G,c.425T>C,p.I142T |
| AKT1S1(NM_032375,AKT1 substrate 1 (proline-rich),276aa) | g.19:50374947C>T,c.544G>A,p.A182T |
| AKT1(NM_005163,v-akt murine thymoma viral oncogene homolog 1,480aa) | g.14:105246551del,c.49del,p.17fs |