| 基因名 | 突变 |
|---|---|
| FAM217B(NM_001190826,family with sequence similarity 217, member B,383aa) | g.20:58519719G>T,c.721G>T,p.A241S |
| FAM217B(NM_001190826,family with sequence similarity 217, member B,383aa) | g.20:58519609G>T,c.611G>T,p.G204V |
| FAM217B(NM_001190826,family with sequence similarity 217, member B,383aa) | g.20:58519488G>A,c.490G>A,p.A164T |
| FAM217B(NM_001190826,family with sequence similarity 217, member B,383aa) | g.20:58519425C>A,c.427C>A,p.P143T |
| FAM217B(NM_001190826,family with sequence similarity 217, member B,383aa) | g.20:58519084C>G,c.86C>G,p.A29G |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069940T>C,c.517A>G,p.I173V |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069739C>G,c.718G>C,p.E240Q |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069685C>T,c.772G>A,p.A258T |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069561A>T,c.896T>A,p.M299K |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069437A>C,c.1020T>G,p.S340R |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069409G>C,c.1048C>G,p.Q350E |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069378C>G,c.1079G>C,p.C360S |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069351C>T,c.1106G>A,p.R369Q |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069166C>T,c.1291G>A,p.V431I |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4069133T>C,c.1324A>G,p.M442V |
| FAM217A(NM_173563,family with sequence similarity 217, member A,508aa) | g.6:4068950A>G,c.1507T>C,p.S503P |
| FAM216B(NM_182508,family with sequence similarity 216, member B,139aa) | g.13:43362906C>T,c.400C>T,p.R134C |
| FAM216B(NM_182508,family with sequence similarity 216, member B,139aa) | g.13:43362769T>G,c.263T>G,p.L88R |
| FAM216A(NM_013300,family with sequence similarity 216, member A,273aa) | g.12:110925718A>G,c.673A>G,p.R225G |
| FAM216A(NM_013300,family with sequence similarity 216, member A,273aa) | g.12:110924375G>A,c.473G>A,p.R158H |
| FAM216A(NM_013300,family with sequence similarity 216, member A,273aa) | g.12:110906720G>C,c.40G>C,p.G14R |
| FAM216A(NM_013300,family with sequence similarity 216, member A,273aa) | g.12:110906714G>A,c.34G>A,p.G12S |
| FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) | g.9:35108261A>T,c.11T>A,p.V4E |
| FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) | g.9:35108136C>T,c.136G>A,p.G46R |
| FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) | g.9:35108064C>T,c.208G>A,p.A70T |
| FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) | g.9:35107997G>A,c.275C>T,p.P92L |
| FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) | g.9:35107888C>G,c.384G>C,p.Q128H |
| FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) | g.9:35107740C>T,c.532G>A,p.A178T |