| 基因名 | 突变 |
|---|---|
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207200875_207200876insT,c.68_69insA,p.23fs |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207200849C>T,c.95G>A,p.R32H |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207198312C>A,c.203G>T,p.G68V |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196790T>C,c.319A>G,p.T107A |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196789G>A,c.320C>T,p.T107M |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196760A>G,c.349T>C,p.S117P |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196639T>G,c.470A>C,p.N157T |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196598C>T,c.511G>A,p.E171K |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196496G>A,c.613C>T,p.R205W |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196454C>T,c.655G>A,p.E219K |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196337T>C,c.772A>G,p.R258G |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207196223G>A,c.886C>T,p.P296S |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195884C>A,c.1225G>T,p.A409S |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195779A>G,c.1330T>C,p.S444P |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195736G>A,c.1373C>T,p.P458L |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195652C>T,c.1457G>A,p.R486H |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195632T>C,c.1477A>G,p.S493G |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195529C>T,c.1580G>A,p.R527Q |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195520G>A,c.1589C>T,p.P530L |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195412C>T,c.1697G>A,p.R566H |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207195352T>C,c.1757A>G,p.N586S |
| C1orf115(NM_024709,chromosome 1 open reading frame 115,142aa) | g.1:220870039C>T,c.395C>T,p.A132V |
| C1orf115(NM_024709,chromosome 1 open reading frame 115,142aa) | g.1:220869985G>A,c.341G>A,p.R114H |
| C1orf112(NM_018186,chromosome 1 open reading frame 112,853aa) | g.1:169820962G>A,c.2249G>A,p.G750E |
| C1orf112(NM_018186,chromosome 1 open reading frame 112,853aa) | g.1:169812819C>T,c.1853C>T,p.A618V |
| C1orf112(NM_018186,chromosome 1 open reading frame 112,853aa) | g.1:169806228G>A,c.1700G>A,p.R567H |
| C1orf112(NM_018186,chromosome 1 open reading frame 112,853aa) | g.1:169806227C>T,c.1699C>T,p.R567C |
| C1orf112(NM_018186,chromosome 1 open reading frame 112,853aa) | g.1:169799880G>T,c.1441G>T,p.A481S |