| 基因名 | 突变 |
|---|---|
| FAM53B(NM_014661,family with sequence similarity 53, member B,422aa) | g.10:126370517G>C,c.565C>G,p.R189G |
| FAM53B(NM_014661,family with sequence similarity 53, member B,422aa) | g.10:126370474G>A,c.608C>T,p.P203L |
| FAM53B(NM_014661,family with sequence similarity 53, member B,422aa) | g.10:126370430C>T,c.652G>A,p.V218M |
| FAM53B(NM_014661,family with sequence similarity 53, member B,422aa) | g.10:126370390C>T,c.692G>A,p.C231Y |
| FAM53B(NM_014661,family with sequence similarity 53, member B,422aa) | g.10:126370373A>C,c.709T>G,p.S237A |
| FAM53B(NM_014661,family with sequence similarity 53, member B,422aa) | g.10:126370232G>A,c.850C>T,p.R284C |
| FAM53B(NM_014661,family with sequence similarity 53, member B,422aa) | g.10:126311984G>C,c.1096C>G,p.H366D |
| FAM53B(NM_014661,family with sequence similarity 53, member B,422aa) | g.10:126311908G>A,c.1172C>T,p.A391V |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1670459G>C,c.10C>G,p.L4V |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1659162C>T,c.109G>A,p.G37S |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1659141G>A,c.130C>T,p.L44F |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1657387G>A,c.200C>T,p.P67L |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1657232G>A,c.355C>T,p.R119W |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1657150G>C,c.437C>G,p.T146S |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1656982G>A,c.605C>T,p.A202V |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1656850G>A,c.737C>T,p.T246M |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1656830G>A,c.757C>T,p.R253C |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1656776G>C,c.811C>G,p.R271G |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1656773G>A,c.814C>T,p.R272C |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1643304G>A,c.913C>T,p.L305F |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1643268C>G,c.949G>C,p.V317L |
| FAM53A(NM_001013622,family with sequence similarity 53, member A,398aa) | g.4:1643204C>T,c.1013G>A,p.C338Y |
| FAM50B(NM_012135,family with sequence similarity 50, member B,325aa) | g.6:3850707G>A,c.662G>A,p.R221H |
| FAM50B(NM_012135,family with sequence similarity 50, member B,325aa) | g.6:3850644C>T,c.599C>T,p.T200M |
| FAM50B(NM_012135,family with sequence similarity 50, member B,325aa) | g.6:3850338G>A,c.293G>A,p.R98Q |
| FAM50B(NM_012135,family with sequence similarity 50, member B,325aa) | g.6:3850154G>A,c.109G>A,p.E37K |
| FAM50A(NM_004699,family with sequence similarity 50, member A,339aa) | g.X:153674876C>T,c.410C>T,p.A137V |
| FAM47E-STBD1(NM_001242939,FAM47E-STBD1 readthrough,351aa) | g.4:77192868G>A,c.817G>A,p.E273K |