| 基因名 | 突变 |
|---|---|
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155217643C>T,c.1937G>A,p.R646H |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155217638G>T,c.1942C>A,p.L648M |
| FAM189A2(NM_004816,family with sequence similarity 189, member A2,450aa) | g.9:71998936C>T,c.698C>T,p.T233I |
| FAM189A2(NM_004816,family with sequence similarity 189, member A2,450aa) | g.9:71998593G>A,c.542G>A,p.R181Q |
| FAM189A2(NM_004816,family with sequence similarity 189, member A2,450aa) | g.9:71998569C>A,c.518C>A,p.P173H |
| FAM189A2(NM_004816,family with sequence similarity 189, member A2,450aa) | g.9:71992597C>T,c.431C>T,p.P144L |
| FAM189A2(NM_004816,family with sequence similarity 189, member A2,450aa) | g.9:71992563C>T,c.397C>T,p.H133Y |
| FAM189A2(NM_004816,family with sequence similarity 189, member A2,450aa) | g.9:71986508G>A,c.106G>A,p.V36M |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29674008C>T,c.247G>A,p.V83I |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29544594T>C,c.365A>G,p.N122S |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29429346C>T,c.682G>A,p.G228S |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29421054C>T,c.941G>A,p.G314D |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29418620G>T,c.1078C>A,p.P360T |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29418581G>A,c.1117C>T,p.P373S |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29418574T>C,c.1124A>G,p.H375R |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29418573_29418574AT>GC,c.1124_1125AT>GC,p.I375A |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29418520C>T,c.1178G>A,p.R393H |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29418512G>A,c.1186C>T,p.R396C |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29416901A>G,c.1292T>C,p.V431A |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29416890C>G,c.1303G>C,p.A435P |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29415598C>T,c.1564G>A,p.E522K |
| FAM189A1(NM_015307,family with sequence similarity 189, member A1,539aa) | g.15:29415549T>G,c.1613A>C,p.Q538P |
| FAM188B(NM_032222,family with sequence similarity 188, member B,757aa) | g.7:30921965G>A,c.2141G>A,p.R714Q |
| FAM188B(NM_032222,family with sequence similarity 188, member B,757aa) | g.7:30921964C>T,c.2140C>T,p.R714W |
| FAM188B(NM_032222,family with sequence similarity 188, member B,757aa) | g.7:30915263A>G,c.1963A>G,p.M655V |
| FAM188B(NM_032222,family with sequence similarity 188, member B,757aa) | g.7:30911862C>T,c.1750C>T,p.R584C |
| FAM188B(NM_032222,family with sequence similarity 188, member B,757aa) | g.7:30893035A>G,c.1637A>G,p.Y546C |
| FAM188B(NM_032222,family with sequence similarity 188, member B,757aa) | g.7:30891863G>A,c.1579G>A,p.G527R |