| 基因名 | 突变 |
|---|---|
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51165541G>A,c.6167C>T,p.P2056L |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51165512C>T,c.6196G>A,p.G2066R |
| SH3YL1(NM_015677,SH3 domain containing, Ysc84-like 1 (S. cerevisiae),342aa) | g.2:234226G>T,c.338C>A,p.A113D |
| SH3YL1(NM_015677,SH3 domain containing, Ysc84-like 1 (S. cerevisiae),342aa) | g.2:233172C>G,c.462G>C,p.K154N |
| SH3YL1(NM_015677,SH3 domain containing, Ysc84-like 1 (S. cerevisiae),342aa) | g.2:231067G>A,c.658C>T,p.R220X |
| SH3YL1(NM_015677,SH3 domain containing, Ysc84-like 1 (S. cerevisiae),342aa) | g.2:229986T>C,c.761A>G,p.Q254R |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148431777T>C,c.79A>G,p.T27A |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148427540G>A,c.164C>T,p.S55F |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148427475G>A,c.229C>T,p.R77W |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148424179C>T,c.302G>A,p.S101N |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148422281A>G,c.505T>C,p.Y169H |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148422274C>T,c.512G>A,p.G171E |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148408257G>A,c.1160C>T,p.P387L |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148408055C>T,c.1240G>A,p.V414M |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148407893C>A,c.1402G>T,p.A468S |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148407481C>T,c.1814G>A,p.R605H |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148407434G>A,c.1861C>T,p.R621C |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148407326C>T,c.1969G>A,p.E657K |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148406713C>T,c.2582G>A,p.R861Q |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148406604G>C,c.2691C>G,p.N897K |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148406585G>A,c.2710C>T,p.R904X |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148406198C>T,c.2990G>A,p.R997Q |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148406139C>T,c.3049G>A,p.A1017T |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148392248T>C,c.3103A>G,p.I1035V |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148389867G>A,c.3293C>T,p.T1098I |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148388512C>T,c.3380G>A,p.R1127Q |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148388420C>T,c.3472G>A,p.V1158I |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148386569T>C,c.3550A>G,p.M1184V |