| 基因名 | 突变 |
|---|---|
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110308776C>T,c.296G>A,p.R99Q |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110308717T>C,c.355A>G,p.I119V |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110305614T>C,c.599A>G,p.Y200C |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110302135C>T,c.668G>A,p.R223H |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110302094T>C,c.709A>G,p.I237V |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110302047T>G,c.756A>C,p.L252F |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110301998T>C,c.805A>G,p.I269V |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110283353T>G,c.1180A>C,p.N394H |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110283256T>C,c.1277A>G,p.N426S |
| NUDCD1(NM_032869,NudC domain containing 1,583aa) | g.8:110255347G>A,c.1643C>T,p.A548V |
| NUCB2(NM_005013,nucleobindin 2,420aa) | g.11:17352482C>G,c.1207C>G,p.Q403E |
| NUCB2(NM_005013,nucleobindin 2,420aa) | g.11:17352478_17352480del,c.1203_1205del,p.401_402del |
| NUCB2(NM_005013,nucleobindin 2,420aa) | g.11:17351683C>G,c.1012C>G,p.Q338E |
| NUCB2(NM_005013,nucleobindin 2,420aa) | g.11:17333663G>A,c.907+1G>A,p.303Donor |
| NUCB2(NM_005013,nucleobindin 2,420aa) | g.11:17317668T>A,c.162T>A,p.Y54X |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49424482G>T,c.1074G>T,p.E358D |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49422517T>C,c.976T>C,p.F326L |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49422484G>A,c.943G>A,p.E315K |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49422322C>A,c.852C>A,p.D284E |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49421985A>G,c.760A>G,p.I254V |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49416266A>T,c.481-2A>T,p.161Acceptor |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49414508C>T,c.479C>T,p.T160M |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49409026G>A,c.260G>A,p.R87Q |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49407695A>G,c.227A>G,p.N76S |
| NUCB1(NM_006184,nucleobindin 1,461aa) | g.19:49404091_49404093del,c.38_40del,p.13_14del |
| NUBPL(NM_025152,nucleotide binding protein-like,319aa) | g.14:32295904G>A,c.677G>A,p.R226H |
| NUBPL(NM_025152,nucleotide binding protein-like,319aa) | g.14:32257065A>C,c.593A>C,p.N198T |
| NUBP2(NM_012225,nucleotide binding protein 2,271aa) | g.16:1838050A>G,c.598A>G,p.T200A |