| 基因名 | 突变 |
|---|---|
| NANS(NM_018946,N-acetylneuraminic acid synthase,359aa) | g.9:100823135G>C,c.204G>C,p.E68D |
| NANS(NM_018946,N-acetylneuraminic acid synthase,359aa) | g.9:100819143C>T,c.53C>T,p.P18L |
| NANP(NM_152667,N-acetylneuraminic acid phosphatase,248aa) | g.20:25597102G>C,c.206C>G,p.T69S |
| NANP(NM_152667,N-acetylneuraminic acid phosphatase,248aa) | g.20:25596850G>A,c.458C>T,p.A153V |
| NANOS3(NM_001098622,nanos homolog 3 (Drosophila),192aa) | g.19:13988558_13988559insGAG,c.496_497insGAG,p.166ins1aa |
| NANOS2(NM_001029861,nanos homolog 2 (Drosophila),138aa) | g.19:46417913G>C,c.39C>G,p.F13L |
| NANOS2(NM_001029861,nanos homolog 2 (Drosophila),138aa) | g.19:46417875C>T,c.77G>A,p.R26Q |
| NANOS1(NM_199461,nanos homolog 1 (Drosophila),292aa) | g.10:120789413C>A,c.100C>A,p.P34T |
| NANOG(NM_024865,Nanog homeobox,305aa) | g.12:7947330T>G,c.557T>G,p.L186R |
| NANOG(NM_024865,Nanog homeobox,305aa) | g.12:7945640G>T,c.246G>T,p.K82N |
| NANOGNB(NM_001145465,NANOG neighbor homeobox,188aa) | g.12:7926427C>T,c.547C>T,p.R183X |
| NANOGNB(NM_001145465,NANOG neighbor homeobox,188aa) | g.12:7922699C>T,c.223C>T,p.R75X |
| NANOGNB(NM_001145465,NANOG neighbor homeobox,188aa) | g.12:7917936G>A,c.55G>A,p.A19T |
| NANOGNB(NM_001145465,NANOG neighbor homeobox,188aa) | g.12:7917931C>T,c.50C>T,p.A17V |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:102047617C>A,c.208G>T,p.V70L |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101944634G>A,c.883C>T,p.R295C |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101881803T>C,c.1567A>G,p.I523V |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101795514T>C,c.2035A>G,p.R679G |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101776978C>T,c.2173G>A,p.A725T |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101763566C>T,c.2204G>A,p.R735Q |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101763528C>T,c.2242G>A,p.A748T |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101763029G>A,c.2305C>T,p.H769Y |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101759854G>A,c.2563C>T,p.R855X |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101759848G>A,c.2569C>T,p.R857C |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101759838G>A,c.2579C>T,p.A860V |
| NALCN(NM_052867,sodium leak channel, non-selective,1738aa) | g.13:101707799G>A,c.5065C>T,p.R1689W |
| NAIP(NM_004536,NLR family, apoptosis inhibitory protein,1403aa) | g.5:70308603G>C,c.140C>G,p.A47G |
| NAIP(NM_004536,NLR family, apoptosis inhibitory protein,1403aa) | g.5:70308554C>A,c.189G>T,p.R63S |