| 基因名 | 突变 |
|---|---|
| MICALL2(NM_182924,MICAL-like 2,904aa) | g.7:1474287T>G,c.2660A>C,p.K887T |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38336799C>T,c.2554C>T,p.R852C |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38333188G>A,c.2410G>A,p.E804K |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38328597A>G,c.2054A>G,p.H685R |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38323700C>T,c.1748C>T,p.P583L |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38323507G>T,c.1555G>T,p.A519S |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38323475C>T,c.1523C>T,p.A508V |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38322038G>A,c.1453G>A,p.A485T |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38322026C>T,c.1441C>T,p.R481C |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38322014C>T,c.1429C>T,p.R477C |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38320673T>G,c.1031T>G,p.L344R |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38315104C>T,c.488C>T,p.T163M |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38307970C>T,c.158C>T,p.S53L |
| MICALL1(NM_033386,MICAL-like 1,863aa) | g.22:38302469C>T,c.40C>T,p.R14C |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12379949C>T,c.2011C>T,p.R671C |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12348801C>T,c.1717C>T,p.R573X |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12348754G>A,c.1670G>A,p.R557Q |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12316389A>C,c.1411A>C,p.T471P |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12316384_12316389del,c.1406_1411del,p.469_471del |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12316327C>A,c.1349C>A,p.T450N |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12316146C>A,c.1168C>A,p.P390T |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12316085T>A,c.1107T>A,p.D369E |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12316030G>A,c.1052G>A,p.R351Q |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12316008C>T,c.1030C>T,p.R344C |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12315988G>A,c.1010G>A,p.S337N |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12315945G>A,c.967G>A,p.G323R |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12315915A>G,c.937A>G,p.S313G |
| MICALCL(NM_032867,MICAL C-terminal like,695aa) | g.11:12315907G>A,c.929G>A,p.R310H |