| 基因名 | 突变 |
|---|---|
| HECTD1(NM_015382,HECT domain containing E3 ubiquitin protein ligase 1,2610aa) | g.14:31598301T>C,c.4276A>G,p.I1426V |
| HECTD1(NM_015382,HECT domain containing E3 ubiquitin protein ligase 1,2610aa) | g.14:31590599A>G,c.5228T>C,p.I1743T |
| HECTD1(NM_015382,HECT domain containing E3 ubiquitin protein ligase 1,2610aa) | g.14:31585572G>A,c.5488C>T,p.R1830C |
| HECTD1(NM_015382,HECT domain containing E3 ubiquitin protein ligase 1,2610aa) | g.14:31583512C>T,c.5653G>A,p.E1885K |
| HECTD1(NM_015382,HECT domain containing E3 ubiquitin protein ligase 1,2610aa) | g.14:31582534G>A,c.6013C>T,p.R2005C |
| HECTD1(NM_015382,HECT domain containing E3 ubiquitin protein ligase 1,2610aa) | g.14:31582380A>G,c.6080T>C,p.L2027P |
| HECTD1(NM_015382,HECT domain containing E3 ubiquitin protein ligase 1,2610aa) | g.14:31578712C>T,c.6371G>A,p.R2124Q |
| HECTD1(NM_015382,HECT domain containing E3 ubiquitin protein ligase 1,2610aa) | g.14:31575891G>T,c.7187C>A,p.P2396Q |
| HECA(NM_016217,headcase homolog (Drosophila),543aa) | g.6:139488148G>T,c.999G>T,p.R333S |
| HECA(NM_016217,headcase homolog (Drosophila),543aa) | g.6:139487805C>T,c.656C>T,p.A219V |
| HEBP2(NM_014320,heme binding protein 2,205aa) | g.6:138734169A>C,c.572A>C,p.E191A |
| HEBP2(NM_014320,heme binding protein 2,205aa) | g.6:138734024G>A,c.427G>A,p.D143N |
| HEBP2(NM_014320,heme binding protein 2,205aa) | g.6:138727288G>A,c.419G>A,p.R140Q |
| HEBP2(NM_014320,heme binding protein 2,205aa) | g.6:138727126C>T,c.257C>T,p.T86I |
| HEBP2(NM_014320,heme binding protein 2,205aa) | g.6:138727122A>G,c.253A>G,p.M85V |
| HEBP1(NM_015987,heme binding protein 1,189aa) | g.12:13128363C>T,c.449G>A,p.R150H |
| HEBP1(NM_015987,heme binding protein 1,189aa) | g.12:13128307T>A,c.505A>T,p.T169S |
| HEBP1(NM_015987,heme binding protein 1,189aa) | g.12:13128306G>A,c.506C>T,p.T169M |
| HEBP1(NM_015987,heme binding protein 1,189aa) | g.12:13128263C>G,c.549G>C,p.E183D |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58156184C>A,c.92G>T,p.R31L |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58156064G>A,c.212C>T,p.A71V |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58156061G>A,c.215C>T,p.P72L |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58149676G>A,c.599C>T,p.P200L |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58149652T>C,c.623A>G,p.N208S |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58147127C>T,c.884G>A,p.G295E |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58143728G>A,c.1258C>T,p.R420C |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58137424T>C,c.1450A>G,p.I484V |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58134525G>A,c.1963C>T,p.R655X |