| 基因名 | 突变 |
|---|---|
| NINL(NM_025176,ninein-like,1382aa) | g.20:25460861G>A,c.1853C>T,p.T618M |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25459767G>A,c.1993C>T,p.R665C |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25459623G>A,c.2137C>T,p.P713S |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457712C>T,c.2215G>A,p.A739T |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457690G>A,c.2237C>T,p.S746L |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457678G>A,c.2249C>T,p.A750V |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457559A>G,c.2368T>C,p.C790R |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457541C>T,c.2386G>A,p.A796T |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457375G>A,c.2552C>T,p.P851L |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457321G>A,c.2606C>T,p.S869F |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457295G>A,c.2632C>T,p.R878C |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457237G>A,c.2690C>T,p.P897L |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457187C>T,c.2740G>A,p.V914M |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457055A>G,c.2872T>C,p.W958R |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457054C>G,c.2873G>C,p.W958S |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457051T>A,c.2876A>T,p.E959V |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457051_25457056del,c.2871_2876del,p.957_959del |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457050_25457055del,c.2872_2877del,p.958_959del |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457030G>A,c.2897C>T,p.A966V |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457022T>C,c.2905A>G,p.R969G |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25457010C>T,c.2917G>A,p.E973K |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25456917C>T,c.3010G>A,p.A1004T |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25456793C>T,c.3134G>A,p.G1045E |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25456698C>T,c.3229G>A,p.D1077N |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25439036G>A,c.3826C>T,p.R1276C |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25439020C>T,c.3842G>A,p.R1281Q |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25434176C>T,c.4060G>A,p.A1354T |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25434148T>C,c.4088A>G,p.E1363G |