| 基因名 | 突变 |
|---|---|
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148386469del,c.3650del,p.1217fs |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148384455T>A,c.3686A>T,p.D1229V |
| SH3TC2(NM_024577,SH3 domain and tetratricopeptide repeats 2,1288aa) | g.5:148384419G>A,c.3722C>T,p.A1241V |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8242657G>T,c.3986G>T,p.W1329L |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8242608G>A,c.3937G>A,p.V1313I |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8242552G>A,c.3881G>A,p.R1294H |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8242483G>A,c.3812G>A,p.G1271D |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8242470G>A,c.3799G>A,p.A1267T |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8242443G>A,c.3772G>A,p.G1258R |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8242424G>A,c.3754-1G>A,p.1252Acceptor |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8238057G>A,c.3458G>A,p.R1153Q |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8238009G>A,c.3410G>A,p.R1137Q |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8238008C>T,c.3409C>T,p.R1137W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8237256C>T,c.3379C>T,p.R1127W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8235241G>A,c.3282+1G>A,p.1094Donor |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8235220C>A,c.3262C>A,p.L1088M |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8235184G>C,c.3226G>C,p.A1076P |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8235103G>A,c.3145G>A,p.A1049T |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8233883G>A,c.3131G>A,p.R1044Q |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8233750A>G,c.2998A>G,p.M1000V |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8233712G>A,c.2960G>A,p.R987Q |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8233711C>T,c.2959C>T,p.R987W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8230347G>A,c.2926G>A,p.A976T |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8230258C>A,c.2837C>A,p.T946N |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8230249G>A,c.2828G>A,p.R943Q |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8230212C>T,c.2791C>T,p.R931W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8230053C>T,c.2632C>T,p.R878W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229927G>A,c.2506G>A,p.V836M |