| 基因名 | 突变 |
|---|---|
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144808572C>T,c.3059G>A,p.R1020Q |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144808437G>T,c.3194C>A,p.T1065N |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18907029A>G,c.326T>C,p.I109T |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18891631C>T,c.619G>A,p.V207M |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18881970C>T,c.1009G>A,p.A337T |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18881910C>T,c.1069G>A,p.V357I |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18881605C>A,c.1374G>T,p.Q458H |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18881403C>T,c.1576G>A,p.V526I |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18881091G>A,c.1888C>T,p.R630W |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18881039C>T,c.1940G>A,p.R647Q |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18880986C>T,c.1993G>A,p.G665S |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18875007C>T,c.2137G>A,p.G713S |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18874965C>T,c.2179G>A,p.V727I |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18874869C>T,c.2275G>A,p.G759S |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18874689C>G,c.2455G>C,p.D819H |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18874685C>T,c.2459G>A,p.R820H |
| FAM83G(NM_001039999,family with sequence similarity 83, member G,823aa) | g.17:18874685_18874686insGGT,c.2458_2459insACC,p.820ins1aa |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417901G>A,c.1387G>A,p.E463K |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417820A>G,c.1306A>G,p.R436G |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417775C>T,c.1261C>T,p.R421X |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417614C>T,c.1100C>T,p.S367L |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417608G>A,c.1094G>A,p.G365D |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417604G>A,c.1090G>A,p.G364S |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417571G>A,c.1057G>A,p.G353S |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417559C>T,c.1045C>T,p.R349W |
| FAM83F(NM_138435,family with sequence similarity 83, member F,500aa) | g.22:40417514C>T,c.1000C>T,p.R334C |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49116359T>C,c.271A>G,p.T91A |
| FAM83E(NM_017708,family with sequence similarity 83, member E,478aa) | g.19:49116307G>A,c.323C>T,p.P108L |