| 基因名 | 突变 |
|---|---|
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53986409C>T,c.1099G>A,p.V367I |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53980431G>A,c.1225C>T,p.P409S |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53980389C>T,c.1267G>A,p.D423N |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53980367G>A,c.1289C>T,p.P430L |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53974913C>T,c.1585G>A,p.D529N |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53974903C>T,c.1595G>A,p.R532Q |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53974853C>T,c.1645G>A,p.G549S |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53974838G>A,c.1660C>T,p.R554W |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53972369C>T,c.1786G>A,p.E596K |
| GLIS1(NM_147193,GLIS family zinc finger 1,620aa) | g.1:53972347T>C,c.1808A>G,p.N603S |
| GLIPR2(NM_022343,GLI pathogenesis-related 2,154aa) | g.9:36147845G>A,c.76G>A,p.V26I |
| GLIPR2(NM_022343,GLI pathogenesis-related 2,154aa) | g.9:36147794T>C,c.25T>C,p.F9L |
| GLIPR1(NM_006851,GLI pathogenesis-related 1,266aa) | g.12:75875684G>A,c.245G>A,p.R82Q |
| GLIPR1(NM_006851,GLI pathogenesis-related 1,266aa) | g.12:75875683C>T,c.244C>T,p.R82W |
| GLIPR1L2(NM_001270396,GLI pathogenesis-related 1 like 2,344aa) | g.12:75816731G>A,c.632G>A,p.R211Q |
| GLIPR1L2(NM_001270396,GLI pathogenesis-related 1 like 2,344aa) | g.12:75804272C>T,c.293C>T,p.T98M |
| GLIPR1L2(NM_001270396,GLI pathogenesis-related 1 like 2,344aa) | g.12:75804235C>T,c.256C>T,p.R86W |
| GLIPR1L2(NM_001270396,GLI pathogenesis-related 1 like 2,344aa) | g.12:75785047G>A,c.151G>A,p.V51I |
| GLIPR1L2(NM_001270396,GLI pathogenesis-related 1 like 2,344aa) | g.12:75784911G>T,c.15G>T,p.R5S |
| GLI4(NM_138465,GLI family zinc finger 4,376aa) | g.8:144358850C>T,c.1007C>T,p.S336L |
| GLI4(NM_138465,GLI family zinc finger 4,376aa) | g.8:144358819T>G,c.976T>G,p.S326A |
| GLI4(NM_138465,GLI family zinc finger 4,376aa) | g.8:144358381G>A,c.538G>A,p.A180T |
| GLI4(NM_138465,GLI family zinc finger 4,376aa) | g.8:144356933G>A,c.184G>A,p.V62I |
| GLI4(NM_138465,GLI family zinc finger 4,376aa) | g.8:144351610C>T,c.44C>T,p.S15F |
| GLI3(NM_000168,GLI family zinc finger 3,1580aa) | g.7:42187951C>T,c.241G>A,p.E81K |
| GLI3(NM_000168,GLI family zinc finger 3,1580aa) | g.7:42088222T>C,c.547A>G,p.T183A |
| GLI3(NM_000168,GLI family zinc finger 3,1580aa) | g.7:42065977C>T,c.1063G>A,p.V355I |
| GLI3(NM_000168,GLI family zinc finger 3,1580aa) | g.7:42063171C>G,c.1393G>C,p.G465R |