| 基因名 | 突变 |
|---|---|
| NMU(NM_006681,neuromedin U,174aa) | g.4:56502304G>T,c.56C>A,p.A19E |
| NMU(NM_006681,neuromedin U,174aa) | g.4:56475330T>C,c.236A>G,p.E79G |
| NMU(NM_006681,neuromedin U,174aa) | g.4:56466734G>T,c.444C>A,p.F148L |
| NMT2(NM_004808,N-myristoyltransferase 2,498aa) | g.10:15175336T>C,c.418A>G,p.I140V |
| NMT2(NM_004808,N-myristoyltransferase 2,498aa) | g.10:15175091T>A,c.563A>T,p.N188I |
| NMT2(NM_004808,N-myristoyltransferase 2,498aa) | g.10:15174924C>T,c.611G>A,p.R204H |
| NMT2(NM_004808,N-myristoyltransferase 2,498aa) | g.10:15154904A>G,c.1229T>C,p.M410T |
| NMT1(NM_021079,N-myristoyltransferase 1,496aa) | g.17:43174504G>A,c.605G>A,p.R202Q |
| NMS(NM_001011717,neuromedin S,153aa) | g.2:101097609C>T,c.394C>T,p.R132X |
| NMS(NM_001011717,neuromedin S,153aa) | g.2:101097598C>T,c.383C>T,p.A128V |
| NMS(NM_001011717,neuromedin S,153aa) | g.2:101093730G>A,c.207+1G>A,p.69Donor |
| NMS(NM_001011717,neuromedin S,153aa) | g.2:101093729G>T,c.207G>T,p.R69S |
| NMS(NM_001011717,neuromedin S,153aa) | g.2:101089991G>A,c.173G>A,p.R58H |
| NMS(NM_001011717,neuromedin S,153aa) | g.2:101086966C>T,c.16C>T,p.P6S |
| NMS(NM_001011717,neuromedin S,153aa) | g.2:101086951A>G,c.1A>G,p.M1V |
| NMRK2(NM_170678,nicotinamide riboside kinase 2,230aa) | g.19:3942110G>A,c.532G>A,p.E178K |
| NMRK2(NM_170678,nicotinamide riboside kinase 2,230aa) | g.19:3942105G>A,c.527G>A,p.R176Q |
| NMRK2(NM_170678,nicotinamide riboside kinase 2,230aa) | g.19:3941163G>A,c.490G>A,p.G164S |
| NMRK2(NM_170678,nicotinamide riboside kinase 2,230aa) | g.19:3939924G>A,c.350G>A,p.R117Q |
| NMRK2(NM_170678,nicotinamide riboside kinase 2,230aa) | g.19:3936637G>A,c.91G>A,p.V31M |
| NMRK1(NM_017881,nicotinamide riboside kinase 1,199aa) | g.9:77684899C>T,c.229G>A,p.A77T |
| NMRK1(NM_017881,nicotinamide riboside kinase 1,199aa) | g.9:77684860C>G,c.268G>C,p.E90Q |
| NMRK1(NM_017881,nicotinamide riboside kinase 1,199aa) | g.9:77684824G>C,c.304C>G,p.L102V |
| NMRK1(NM_017881,nicotinamide riboside kinase 1,199aa) | g.9:77683986C>T,c.422G>A,p.G141E |
| NMRAL1(NM_020677,NmrA-like family domain containing 1,299aa) | g.16:4519439G>A,c.68C>T,p.T23I |
| NMRAL1(NM_020677,NmrA-like family domain containing 1,299aa) | g.16:4519397C>T,c.110G>A,p.R37Q |
| NMRAL1(NM_020677,NmrA-like family domain containing 1,299aa) | g.16:4519382T>G,c.125A>C,p.K42T |
| NMRAL1(NM_020677,NmrA-like family domain containing 1,299aa) | g.16:4516262G>A,c.421C>T,p.R141W |