| 基因名 | 突变 |
|---|---|
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122662T>C,c.262A>G,p.N88D |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122596G>A,c.328C>T,p.R110W |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122560C>T,c.364G>A,p.V122M |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122527C>T,c.397G>A,p.V133M |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122479C>T,c.445G>A,p.V149M |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122470C>T,c.454G>A,p.V152M |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122440C>T,c.484G>A,p.D162N |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122425C>T,c.499G>A,p.V167I |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122374C>T,c.550G>A,p.G184S |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122355C>T,c.569G>A,p.R190Q |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122289T>C,c.635A>G,p.K212R |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43121914T>C,c.1010A>G,p.N337S |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43121854C>T,c.1070G>A,p.R357H |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43121743C>T,c.1181G>A,p.R394Q |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43121705G>A,c.1219C>T,p.R407W |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43121540G>A,c.1384C>T,p.R462W |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43121534C>T,c.1390G>A,p.V464M |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43121458C>T,c.1466G>A,p.R489Q |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43121321C>T,c.1603G>A,p.V535M |
| POMGNT1(NM_001243766,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),748aa) | g.1:46662492G>A,c.265C>T,p.R89W |
| POMGNT1(NM_001243766,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),748aa) | g.1:46662456C>T,c.301G>A,p.V101I |
| POMGNT1(NM_001243766,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),748aa) | g.1:46660029G>A,c.796C>T,p.R266W |
| POMGNT1(NM_001243766,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),748aa) | g.1:46658069G>A,c.1324C>T,p.R442C |
| POMGNT1(NM_001243766,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),748aa) | g.1:46655645C>T,c.1666G>A,p.D556N |
| POMGNT1(NM_001243766,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),748aa) | g.1:46655158T>C,c.1867A>G,p.M623V |
| POMC(NM_001035256,proopiomelanocortin,267aa) | g.2:25384482T>C,c.272A>G,p.N91S |
| POMC(NM_001035256,proopiomelanocortin,267aa) | g.2:25384477T>C,c.277A>G,p.S93G |
| POMC(NM_001035256,proopiomelanocortin,267aa) | g.2:25384456_25384457insGCCGCTGCT,c.297_298insAGCAGCGGC,p.99_100ins3aa |