| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435808del | CA16041547 | DHCR7 | c.995del (p.Leu332ArgfsTer?) c.821del (p.Leu274ArgfsTer?) c.1046del (p.Leu349ArgfsTer?) c.1031del (p.Leu344ArgfsTer?) c.1003del (p.Cys335ValfsTer?) n.1035del c.410del (p.Leu137ArgfsTer?) c.899del (p.Leu300ArgfsTer?) c.496del (p.Cys166ValfsTer?) c.245del (p.Leu82ArgfsTer?) c.319+2004del c.1129del (p.Cys377ValfsTer?) | ClinVar dbSNP |
| 11 | g.71435808A= | CA3183114582 | DHCR7 | c.995T= (p.Leu332=) c.821T= (p.Leu274=) c.1046T= (p.Leu349=) c.1031T= (p.Leu344=) c.1003T= (p.Cys335=) n.1035T= c.410T= (p.Leu137=) c.899T= (p.Leu300=) c.496T= (p.Cys166=) c.245T= (p.Leu82=) c.319+2004T= c.1129T= (p.Cys377=) | dbSNP |