| Genename | Variants |
|---|---|
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77753157C>T,c.1262G>A,p.R421Q |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77751332T>C,c.1537A>G,p.N513D |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77746186C>T,c.1871G>A,p.R624Q |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77745129G>A,c.1975C>T,p.R659W |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77744827C>T,c.2057G>A,p.R686Q |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77743730A>G,c.2242T>C,p.W748R |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134398452C>T,c.2137C>T,p.R713C |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134397464C>T,c.1856C>T,p.A619V |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134394788G>A,c.1499G>A,p.R500K |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134394309C>T,c.1451C>T,p.T484M |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134393913G>A,c.1354G>A,p.A452T |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134393862G>A,c.1303G>A,p.V435I |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134390870C>A,c.1233C>A,p.D411E |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134388709C>T,c.1166C>T,p.S389F |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134388669G>A,c.1126G>A,p.G376R |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134388660G>C,c.1117G>C,p.V373L |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134386781G>A,c.913G>A,p.V305I |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134385799A>T,c.852A>T,p.L284F |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134385382A>G,c.698A>G,p.N233S |
| POMT1(NM_001136113,protein-O-mannosyltransferase 1,725aa) | g.9:134382806C>T,c.332C>T,p.A111V |
| POMP(NM_015932,proteasome maturation protein,141aa) | g.13:29242641C>G,c.194C>G,p.S65C |
| POMK(NM_032237,protein-O-mannose kinase,350aa) | g.8:42977727G>A,c.760G>A,p.V254M |
| POMK(NM_032237,protein-O-mannose kinase,350aa) | g.8:42977532A>G,c.565A>G,p.I189V |
| POMK(NM_032237,protein-O-mannose kinase,350aa) | g.8:42958833T>C,c.142T>C,p.S48P |
| POMK(NM_032237,protein-O-mannose kinase,350aa) | g.8:42958744C>T,c.53C>T,p.P18L |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122805C>T,c.119G>A,p.R40Q |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122770C>T,c.154G>A,p.D52N |
| POMGNT2(NM_032806,protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-),580aa) | g.3:43122685C>T,c.239G>A,p.R80H |