| 基因名 | 突变 |
|---|---|
| FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) | g.4:38880046T>C,c.347T>C,p.L116P |
| FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) | g.4:38879949G>A,c.250G>A,p.G84R |
| FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) | g.4:38879895A>G,c.196A>G,p.I66V |
| FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) | g.4:38879818C>T,c.119C>T,p.S40L |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58893761C>G,c.2191C>G,p.P731A |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58893483C>T,c.1913C>T,p.T638M |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58893189A>G,c.1619A>G,p.N540S |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58893012A>G,c.1442A>G,p.N481S |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58892885G>A,c.1315G>A,p.G439R |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58892688G>A,c.1118G>A,p.R373Q |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58892487A>G,c.917A>G,p.H306R |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58892288T>A,c.718T>A,p.W240R |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58892223G>A,c.653G>A,p.G218D |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58891962del,c.392del,p.131fs |
| FAM111B(NM_198947,family with sequence similarity 111, member B,734aa) | g.11:58891792G>C,c.222G>C,p.L74F |
| FAM111A(NM_001142520,family with sequence similarity 111, member A,611aa) | g.11:58920849A>T,c.1708A>T,p.S570C |
| FAM111A(NM_001142520,family with sequence similarity 111, member A,611aa) | g.11:58920603A>T,c.1462A>T,p.I488F |
| FAM111A(NM_001142520,family with sequence similarity 111, member A,611aa) | g.11:58920492C>G,c.1351C>G,p.Q451E |
| FAM111A(NM_001142520,family with sequence similarity 111, member A,611aa) | g.11:58919624_58919627del,c.483_486del,p.161fs |
| FAM111A(NM_001142520,family with sequence similarity 111, member A,611aa) | g.11:58919248G>A,c.107G>A,p.C36Y |
| FAM111A(NM_001142520,family with sequence similarity 111, member A,611aa) | g.11:58916425C>T,c.80C>T,p.P27L |
| FAM110D(NM_024869,family with sequence similarity 110, member D,271aa) | g.1:26487942C>A,c.160C>A,p.P54T |
| FAM110D(NM_024869,family with sequence similarity 110, member D,271aa) | g.1:26487940A>G,c.158A>G,p.H53R |
| FAM110C(NM_001077710,family with sequence similarity 110, member C,321aa) | g.2:46145C>T,c.241G>A,p.A81T |
| FAM110C(NM_001077710,family with sequence similarity 110, member C,321aa) | g.2:45953T>C,c.433A>G,p.K145E |
| FAM110C(NM_001077710,family with sequence similarity 110, member C,321aa) | g.2:45895A>G,c.491T>C,p.I164T |
| FAM110C(NM_001077710,family with sequence similarity 110, member C,321aa) | g.2:45611C>T,c.775G>A,p.G259S |
| FAM110A(NM_001042353,family with sequence similarity 110, member A,295aa) | g.20:826208T>C,c.761T>C,p.V254A |