| 基因名 | 突变 |
|---|---|
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:780517T>C,c.1331A>G,p.H444R |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:780482G>A,c.1366C>T,p.R456C |
| NARFL(NM_022493,nuclear prelamin A recognition factor-like,476aa) | g.16:780455C>T,c.1393G>A,p.V465M |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50868835G>A,c.44C>T,p.P15L |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50868815A>C,c.64T>G,p.S22A |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50868797G>A,c.82C>T,p.R28C |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50865542G>A,c.112C>T,p.R38C |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50865538C>T,c.116G>A,p.R39K |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50865535A>G,c.119T>C,p.I40T |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50865318G>A,c.257C>T,p.T86M |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50864267C>T,c.599G>A,p.R200Q |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50864223G>C,c.643C>G,p.P215A |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50863069G>A,c.719C>T,p.P240L |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50863060T>C,c.728A>G,p.Y243C |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50862806C>T,c.890G>A,p.R297Q |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50862768C>T,c.928G>A,p.A310T |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50862315G>A,c.988C>T,p.L330F |
| NAPSA(NM_004851,napsin A aspartic peptidase,420aa) | g.19:50862004C>A,c.1069G>T,p.G357C |
| NAPRT1(NM_145201,nicotinate phosphoribosyltransferase domain containing 1,538aa) | g.8:144660318_144660319GG>TA,c.170_171CC>TA,p.P57Y |
| NAPRT1(NM_145201,nicotinate phosphoribosyltransferase domain containing 1,538aa) | g.8:144660005del,c.335del,p.112fs |
| NAPRT1(NM_145201,nicotinate phosphoribosyltransferase domain containing 1,538aa) | g.8:144659005G>A,c.692C>T,p.A231V |
| NAPRT1(NM_145201,nicotinate phosphoribosyltransferase domain containing 1,538aa) | g.8:144658846T>C,c.851A>G,p.Q284R |
| NAPRT1(NM_145201,nicotinate phosphoribosyltransferase domain containing 1,538aa) | g.8:144658630G>A,c.994C>T,p.R332C |
| NAPRT1(NM_145201,nicotinate phosphoribosyltransferase domain containing 1,538aa) | g.8:144658618G>A,c.1006C>T,p.R336X |
| NAPRT1(NM_145201,nicotinate phosphoribosyltransferase domain containing 1,538aa) | g.8:144658298C>T,c.1057G>A,p.V353I |
| NAPRT1(NM_145201,nicotinate phosphoribosyltransferase domain containing 1,538aa) | g.8:144658256C>T,c.1099G>A,p.A367T |
| NAPG(NM_003826,N-ethylmaleimide-sensitive factor attachment protein, gamma,312aa) | g.18:10550121G>C,c.843G>C,p.K281N |
| NAPG(NM_003826,N-ethylmaleimide-sensitive factor attachment protein, gamma,312aa) | g.18:10548372A>G,c.662A>G,p.Y221C |