| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88111226A>G | CA277728 | CEP290 | c.2343T>C (p.Asn781=) c.*252T>C (n.*252T>C) c.*514T>C (n.*514T>C) c.2322T>C (p.Asn774=) c.3204T>C (p.Asn1068=) n.2570T>C c.3111T>C (p.Asn1037=) n.4406T>C c.*256T>C (n.*256T>C) c.2349T>C (p.Asn783=) c.2098T>C (n.2098T>C) c.1602T>C (p.Asn534=) c.2436T>C (p.Asn812=) c.1665T>C (p.Asn555=) n.3548T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88111226A= | CA2052920897 | CEP290 | c.2343T= (p.Asn781=) c.*252T= (n.*252T=) c.*514T= (n.*514T=) c.2322T= (p.Asn774=) c.3204T= (p.Asn1068=) n.2570T= c.3111T= (p.Asn1037=) n.4406T= c.*256T= (n.*256T=) c.2349T= (p.Asn783=) c.2098T= (n.2098T=) c.1602T= (p.Asn534=) c.2436T= (p.Asn812=) c.1665T= (p.Asn555=) n.3548T= | dbSNP |