| 基因名 | 突变 |
|---|---|
| ICA1(NM_001136020,islet cell autoantigen 1, 69kDa,483aa) | g.7:8167769C>T,c.1064G>A,p.C355Y |
| ICA1L(NM_138468,islet cell autoantigen 1,69kDa-like,482aa) | g.2:203690453A>G,c.200T>C,p.L67P |
| ICA1L(NM_138468,islet cell autoantigen 1,69kDa-like,482aa) | g.2:203686202T>C,c.238A>G,p.I80V |
| ICA1L(NM_138468,islet cell autoantigen 1,69kDa-like,482aa) | g.2:203653609C>T,c.1187G>A,p.R396Q |
| ICA1L(NM_138468,islet cell autoantigen 1,69kDa-like,482aa) | g.2:203653587A>T,c.1209T>A,p.F403L |
| ICA1L(NM_138468,islet cell autoantigen 1,69kDa-like,482aa) | g.2:203644362T>C,c.1343A>G,p.N448S |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82935295C>T,c.724G>A,p.V242I |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82933292C>T,c.989G>A,p.R330H |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82925967T>G,c.1427A>C,p.E476A |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82924353T>C,c.1795A>G,p.T599A |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82924019del,c.2129del,p.710fs |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82920617C>T,c.2423G>A,p.C808Y |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82910304G>A,c.2912C>T,p.S971L |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82904256G>C,c.3278C>G,p.P1093R |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82900811G>A,c.3554C>T,p.A1185V |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82891708G>A,c.3613C>T,p.R1205W |
| IBTK(NM_015525,inhibitor of Bruton agammaglobulinemia tyrosine kinase,1353aa) | g.6:82882197G>A,c.3830C>T,p.S1277F |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88733030T>C,c.922T>C,p.Y308H |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88733024G>A,c.916G>A,p.D306N |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88732968G>A,c.860G>A,p.G287E |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88732965G>T,c.857G>T,p.R286L |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88732918A>T,c.810A>T,p.E270D |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88732911C>T,c.803C>T,p.A268V |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88732874A>G,c.766A>G,p.T256A |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88732763A>G,c.655A>G,p.R219G |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88732746A>G,c.638A>G,p.D213G |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88732692G>A,c.584G>A,p.G195E |
| IBSP(NM_004967,integrin-binding sialoprotein,317aa) | g.4:88723842C>T,c.142C>T,p.H48Y |