| Genename | Variants |
|---|---|
| DHX29(NM_019030,DEAH (Asp-Glu-Ala-His) box polypeptide 29,1369aa) | g.5:54585202T>C,c.962A>G,p.H321R |
| DHX29(NM_019030,DEAH (Asp-Glu-Ala-His) box polypeptide 29,1369aa) | g.5:54585118G>A,c.1046C>T,p.A349V |
| DHX29(NM_019030,DEAH (Asp-Glu-Ala-His) box polypeptide 29,1369aa) | g.5:54579038C>G,c.1958G>C,p.G653A |
| DHX29(NM_019030,DEAH (Asp-Glu-Ala-His) box polypeptide 29,1369aa) | g.5:54569156C>T,c.2740G>A,p.A914T |
| DHX29(NM_019030,DEAH (Asp-Glu-Ala-His) box polypeptide 29,1369aa) | g.5:54558510G>A,c.3776C>T,p.S1259F |
| DHX29(NM_019030,DEAH (Asp-Glu-Ala-His) box polypeptide 29,1369aa) | g.5:54557231G>A,c.3925C>T,p.R1309C |
| DHX16(NM_003587,DEAH (Asp-Glu-Ala-His) box polypeptide 16,1041aa) | g.6:30640609G>C,c.10C>G,p.P4A |
| DHX16(NM_003587,DEAH (Asp-Glu-Ala-His) box polypeptide 16,1041aa) | g.6:30638813C>T,c.446G>A,p.G149E |
| DHX16(NM_003587,DEAH (Asp-Glu-Ala-His) box polypeptide 16,1041aa) | g.6:30633377C>T,c.800G>A,p.R267Q |
| DHX16(NM_003587,DEAH (Asp-Glu-Ala-His) box polypeptide 16,1041aa) | g.6:30627325A>G,c.1931T>C,p.V644A |
| DHX16(NM_003587,DEAH (Asp-Glu-Ala-His) box polypeptide 16,1041aa) | g.6:30624526T>C,c.2159A>G,p.N720S |
| DHX16(NM_003587,DEAH (Asp-Glu-Ala-His) box polypeptide 16,1041aa) | g.6:30624241T>C,c.2357A>G,p.Y786C |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12162870G>A,c.2743G>A,p.A915T |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12162867C>G,c.2740C>G,p.L914V |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12162861G>T,c.2734G>T,p.D912Y |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12159753A>T,c.2401A>T,p.K801X |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12154929G>A,c.2185G>A,p.G729R |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12150003C>T,c.2143C>T,p.R715C |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12149981C>A,c.2121C>A,p.D707E |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12143105C>G,c.1821C>G,p.I607M |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12136242A>G,c.1330A>G,p.T444A |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12133603T>C,c.1079T>C,p.V360A |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12131240G>A,c.973G>A,p.V325I |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12131190G>A,c.923G>A,p.R308H |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12131114A>G,c.847A>G,p.M283V |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12131081T>G,c.814T>G,p.Y272D |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12129639G>T,c.628G>T,p.A210S |
| DHTKD1(NM_018706,dehydrogenase E1 and transketolase domain containing 1,919aa) | g.10:12123525C>G,c.209C>G,p.A70G |