| 基因名 | 突变 |
|---|---|
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49116251G>A,c.379C>T,p.R127W |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49116245G>T,c.385C>A,p.Q129K |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49116200C>G,c.430G>C,p.E144Q |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49114032G>A,c.538C>T,p.R180C |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49113244C>T,c.647G>A,p.R216H |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49113188C>T,c.703G>A,p.V235M |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49113161C>T,c.730G>A,p.G244S |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49107079G>A,c.848C>T,p.T283M |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49106995G>A,c.932C>T,p.P311L |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49106935G>A,c.992C>T,p.P331L |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49106909G>A,c.1018C>T,p.R340C |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37580996C>T,c.1681C>T,p.R561W |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37580670C>G,c.1355C>G,p.T452S |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37580615G>A,c.1300G>A,p.V434M |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37580402C>T,c.1087C>T,p.R363W |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37580397G>A,c.1082G>A,p.R361Q |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37580385G>A,c.1070G>A,p.G357D |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37576621C>T,c.844C>T,p.R282C |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37555366A>G,c.371A>G,p.H124R |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37555116G>C,c.121G>C,p.V41L |
| FAM83D(NM_030919,family with sequence similarity 83, member D,615aa) | g.20:37555060G>C,c.65G>C,p.R22P |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33880044G>A,c.64C>T,p.R22W |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33879995A>G,c.113T>C,p.V38A |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33879990G>A,c.118C>T,p.R40W |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33879977G>T,c.131C>A,p.A44E |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33879965G>A,c.143C>T,p.A48V |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33879852G>A,c.256C>T,p.R86C |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33879708C>T,c.400G>A,p.E134K |