| 基因名 | 突变 |
|---|---|
| NARS(NM_004539,asparaginyl-tRNA synthetase,548aa) | g.18:55274795C>T,c.682G>A,p.V228I |
| NARS(NM_004539,asparaginyl-tRNA synthetase,548aa) | g.18:55273151T>C,c.1189A>G,p.I397V |
| NARS(NM_004539,asparaginyl-tRNA synthetase,548aa) | g.18:55270123A>G,c.1304T>C,p.I435T |
| NARS(NM_004539,asparaginyl-tRNA synthetase,548aa) | g.18:55269699T>C,c.1403A>G,p.N468S |
| NARS(NM_004539,asparaginyl-tRNA synthetase,548aa) | g.18:55269685C>T,c.1417G>A,p.V473M |
| NARS2(NM_024678,asparaginyl-tRNA synthetase 2, mitochondrial (putative),477aa) | g.11:78282480G>A,c.151C>T,p.R51C |
| NARS2(NM_024678,asparaginyl-tRNA synthetase 2, mitochondrial (putative),477aa) | g.11:78279790T>G,c.260A>C,p.N87T |
| NARS2(NM_024678,asparaginyl-tRNA synthetase 2, mitochondrial (putative),477aa) | g.11:78270622T>C,c.557A>G,p.N186S |
| NARS2(NM_024678,asparaginyl-tRNA synthetase 2, mitochondrial (putative),477aa) | g.11:78239937G>T,c.640C>A,p.P214T |
| NARS2(NM_024678,asparaginyl-tRNA synthetase 2, mitochondrial (putative),477aa) | g.11:78189653T>C,c.899A>G,p.K300R |
| NARS2(NM_024678,asparaginyl-tRNA synthetase 2, mitochondrial (putative),477aa) | g.11:78177004T>C,c.1082A>G,p.N361S |
| NARG2(NM_024611,NMDA receptor regulated 2,982aa) | g.15:60758905T>C,c.416A>G,p.K139R |
| NARG2(NM_024611,NMDA receptor regulated 2,982aa) | g.15:60741703C>T,c.1463G>A,p.G488E |
| NARG2(NM_024611,NMDA receptor regulated 2,982aa) | g.15:60724151A>G,c.2543T>C,p.I848T |
| NARG2(NM_024611,NMDA receptor regulated 2,982aa) | g.15:60720819A>C,c.2629T>G,p.S877A |
| NARF(NM_001038618,nuclear prelamin A recognition factor,397aa) | g.17:80446007A>G,c.1168A>G,p.T390A |
| NARF(NM_001038618,nuclear prelamin A recognition factor,397aa) | g.17:80442718C>T,c.686C>T,p.T229M |
| NARF(NM_001038618,nuclear prelamin A recognition factor,397aa) | g.17:80439004A>G,c.509A>G,p.Y170C |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:787316C>T,c.176G>A,p.R59Q |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:787293A>G,c.199T>C,p.S67P |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:787218C>T,c.274G>A,p.E92K |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:786326G>A,c.379C>T,p.R127W |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:784285G>A,c.637C>T,p.R213W |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:782361C>A,c.836G>T,p.R279M |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:781626G>A,c.973C>T,p.R325W |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:780592T>G,c.1256A>C,p.H419P |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:780575C>T,c.1273G>A,p.G425S |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:780545C>T,c.1303G>A,p.A435T |