| 基因名 | 突变 |
|---|---|
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72247498A>G,c.1300A>G,p.I434V |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72247402A>G,c.1204A>G,p.N402D |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72245535C>A,c.1140C>A,p.H380Q |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72245521C>T,c.1126C>T,p.R376C |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72244256G>A,c.994G>A,p.D332N |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72244223C>T,c.961C>T,p.R321W |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72244208G>A,c.946G>A,p.D316N |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72238472C>A,c.808C>A,p.H270N |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72234625C>T,c.713C>T,p.A238V |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72234559G>A,c.647G>A,p.R216Q |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72229296C>T,c.481C>T,p.R161X |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72228224C>T,c.437C>T,p.T146M |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72228124A>G,c.337A>G,p.I113V |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72226655C>T,c.251C>T,p.T84M |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72226649C>T,c.245C>T,p.A82V |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72226583A>G,c.179A>G,p.E60G |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72223639C>A,c.91C>A,p.P31T |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72223634C>T,c.86C>T,p.S29F |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72223593_72223594insCTG,c.45_46insCTG,p.15_16ins1aa |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72223591_72223592insTGC,c.43_44insTGC,p.15ins1aa |
| CNDP1(NM_032649,carnosine dipeptidase 1 (metallopeptidase M20 family),507aa) | g.18:72201918G>A,c.16G>A,p.G6R |
| CNBP(NM_001127192,CCHC-type zinc finger, nucleic acid binding protein,179aa) | g.3:128890540T>C,c.61A>G,p.T21A |
| CNBD2(NM_080834,cyclic nucleotide binding domain containing 2,572aa) | g.20:34618331C>T,c.1480C>T,p.R494W |
| CNBD2(NM_080834,cyclic nucleotide binding domain containing 2,572aa) | g.20:34611650G>A,c.1384G>A,p.E462K |
| CNBD2(NM_080834,cyclic nucleotide binding domain containing 2,572aa) | g.20:34611605C>T,c.1339C>T,p.R447W |
| CNBD2(NM_080834,cyclic nucleotide binding domain containing 2,572aa) | g.20:34599180G>C,c.1269+1G>C,p.423Donor |
| CNBD2(NM_080834,cyclic nucleotide binding domain containing 2,572aa) | g.20:34599150G>T,c.1240G>T,p.V414L |
| CNBD2(NM_080834,cyclic nucleotide binding domain containing 2,572aa) | g.20:34596371C>T,c.1123C>T,p.P375S |