| 基因名 | 突变 |
|---|---|
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:679700C>T,c.1114G>A,p.A372T |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:678763C>T,c.1186G>A,p.G396S |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:674733C>T,c.1306G>A,p.A436T |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:674711T>C,c.1328A>G,p.N443S |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:674657T>C,c.1382A>G,p.N461S |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:674639G>A,c.1400C>T,p.A467V |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:644614G>C,c.1634C>G,p.A545G |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:644608G>C,c.1640C>G,p.T547S |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:644568C>G,c.1680G>C,p.M560I |
| DEAF1(NM_021008,DEAF1 transcription factor,565aa) | g.11:644561C>T,c.1687G>A,p.V563M |
| DDX6(NM_004397,DEAD (Asp-Glu-Ala-Asp) box helicase 6,483aa) | g.11:118656777T>C,c.184A>G,p.M62V |
| DDX6(NM_004397,DEAD (Asp-Glu-Ala-Asp) box helicase 6,483aa) | g.11:118629613_118629614insG,c.865-2insC,p.289Acceptorins |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169229213G>A,c.208C>T,p.R70C |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169227787T>C,c.349A>G,p.I117V |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169214981C>T,c.839G>A,p.G280E |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169212900A>G,c.1040T>C,p.M347T |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169208334C>T,c.1204G>A,p.D402N |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169208214G>T,c.1324C>A,p.P442T |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169206076T>C,c.1456A>G,p.I486V |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169201563C>T,c.1901G>A,p.C634Y |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169197297C>T,c.2014G>A,p.V672M |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169197237G>A,c.2074C>T,p.R692W |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169196609C>T,c.2191G>A,p.V731I |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169194506G>A,c.2498C>T,p.T833M |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169190054G>A,c.2737C>T,p.P913S |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169188780T>C,c.2992A>G,p.I998V |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169183895C>T,c.3083G>A,p.R1028Q |
| DDX60(NM_017631,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60,1712aa) | g.4:169183220A>C,c.3204T>G,p.D1068E |