| 基因名 | 突变 |
|---|---|
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229879G>A,c.2458G>A,p.G820R |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229850C>T,c.2429C>T,p.T810M |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229774C>T,c.2353C>T,p.R785C |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229652C>T,c.2231C>T,p.S744L |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229634G>C,c.2213G>C,p.R738P |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229531G>A,c.2110G>A,p.A704T |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229465G>A,c.2044G>A,p.E682K |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229447G>A,c.2026G>A,p.V676M |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229418G>A,c.1997G>A,p.R666Q |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229381C>T,c.1960C>T,p.R654W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229378C>T,c.1957C>T,p.R653W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229373C>T,c.1952C>T,p.A651V |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229140G>T,c.1719G>T,p.R573S |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229105C>T,c.1684C>T,p.L562F |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8229060C>T,c.1639C>T,p.R547W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8228986C>T,c.1565C>T,p.A522V |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8228967C>T,c.1546C>T,p.R516C |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8228943G>A,c.1522G>A,p.A508T |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8228830C>T,c.1409C>T,p.A470V |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8228731T>C,c.1310T>C,p.L437P |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8224665C>T,c.1211C>T,p.S404L |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8221220C>T,c.1075C>T,p.R359W |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8221206G>T,c.1061G>T,p.R354L |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8221124C>T,c.979C>T,p.R327X |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8221109G>A,c.964G>A,p.E322K |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8221067G>T,c.922G>T,p.G308C |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8220029G>A,c.871G>A,p.D291N |
| SH3TC1(NM_018986,SH3 domain and tetratricopeptide repeats 1,1336aa) | g.4:8220028C>G,c.870C>G,p.I290M |