| 基因名 | 突变 |
|---|---|
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233834975A>G,c.332T>C,p.M111T |
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233785078C>G,c.744G>C,p.R248S |
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233759514G>A,c.941C>T,p.A314V |
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233757756G>T,c.994C>A,p.L332I |
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233756151C>T,c.1189G>A,p.D397N |
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233756073C>T,c.1267G>A,p.V423I |
| NGDN(NM_015514,neuroguidin, EIF4E binding protein,311aa) | g.14:23945598G>A,c.695G>A,p.S232N |
| NGDN(NM_015514,neuroguidin, EIF4E binding protein,311aa) | g.14:23945565G>A,c.662G>A,p.R221H |
| NGDN(NM_015514,neuroguidin, EIF4E binding protein,311aa) | g.14:23945478G>A,c.575G>A,p.R192H |
| NGB(NM_021257,neuroglobin,151aa) | g.14:77735593G>C,c.166C>G,p.L56V |
| NGB(NM_021257,neuroglobin,151aa) | g.14:77735581C>G,c.178G>C,p.E60Q |
| NGB(NM_021257,neuroglobin,151aa) | g.14:77732923C>T,c.412G>A,p.G138R |
| NFYC(NM_001142590,nuclear transcription factor Y, gamma,301aa) | g.1:41204569del,c.54del,p.18fs |
| NFYA(NM_002505,nuclear transcription factor Y, alpha,347aa) | g.6:41062230T>G,c.984T>G,p.H328Q |
| NFYA(NM_002505,nuclear transcription factor Y, alpha,347aa) | g.6:41048601T>A,c.127T>A,p.S43T |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47916214C>T,c.7G>A,p.A3T |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47912981A>T,c.266T>A,p.I89N |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47912845C>G,c.402G>C,p.Q134H |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47907320A>T,c.450T>A,p.N150K |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47901476G>A,c.737C>T,p.P246L |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47898575G>A,c.1294C>T,p.R432C |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47892686del,c.1487del,p.496fs |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47887663G>A,c.1676C>T,p.T559I |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47864921G>C,c.2258C>G,p.T753R |
| NFXL1(NM_001278624,nuclear transcription factor, X-box binding-like 1,911aa) | g.4:47850316C>T,c.2600G>A,p.R867H |
| NFX1(NM_002504,nuclear transcription factor, X-box binding 1,1120aa) | g.9:33367587C>T,c.3260C>T,p.P1087L |
| NFX1(NM_002504,nuclear transcription factor, X-box binding 1,1120aa) | g.9:33367584C>A,c.3257C>A,p.P1086Q |
| NFX1(NM_002504,nuclear transcription factor, X-box binding 1,1120aa) | g.9:33367575G>A,c.3248G>A,p.R1083Q |