| 基因名 | 突变 |
|---|---|
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:99872814C>T,c.926C>T,p.T309M |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:99715891T>G,c.474T>G,p.I158M |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:99715635T>C,c.329T>C,p.F110S |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:99690484T>A,c.265T>A,p.F89I |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:99690461A>G,c.242A>G,p.N81S |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:99690428T>G,c.209T>G,p.L70R |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:99690376C>T,c.157C>T,p.R53X |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:99690286T>G,c.67T>G,p.S23A |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100226883T>A,c.3235T>A,p.S1079T |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100221596A>T,c.3194A>T,p.Y1065F |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100221580A>C,c.3178A>C,p.I1060L |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100221524A>G,c.3122A>G,p.Y1041C |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100221482A>C,c.3080A>C,p.Q1027P |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100170119G>C,c.2611G>C,p.A871P |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100170065G>A,c.2557G>A,p.V853I |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100168410T>A,c.2368T>A,p.L790I |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100168406T>G,c.2364T>G,p.H788Q |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100168387G>A,c.2345G>A,p.G782E |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100141950G>A,c.2291G>A,p.R764Q |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100126611C>T,c.2125C>T,p.R709C |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100126536G>A,c.2050G>A,p.E684K |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100064228A>G,c.1717A>G,p.R573G |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100061935G>T,c.1658G>T,p.G553V |
| CNTN5(NM_014361,contactin 5,1100aa) | g.11:100061865A>G,c.1588A>G,p.I530V |
| CNTN4(NM_001206955,contactin 4,1026aa) | g.3:3097813C>T,c.2990C>T,p.A997V |
| CNTN4(NM_001206955,contactin 4,1026aa) | g.3:3084045A>T,c.2450A>T,p.D817V |
| CNTN4(NM_001206955,contactin 4,1026aa) | g.3:3078901G>A,c.1981G>A,p.V661M |
| CNTN4(NM_001206955,contactin 4,1026aa) | g.3:3072635G>T,c.1759G>T,p.A587S |