| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197435162T>G | CA117707 | CRB1 | c.3299T>G (p.Ile1100Arg) c.2180T>G (p.Ile727Arg) c.1442T>G (p.Ile481Arg) c.2963T>G (p.Ile988Arg) c.3227T>G (p.Ile1076Arg) c.2129-438T>G (n.2129-438T>G) n.3300T>G n.3508T>G c.2717T>G (p.Ile906Arg) c.1742T>G (p.Ile581Arg) c.2456T>G (p.Ile819Arg) c.3434T>G (p.Ile1145Arg) n.3252T>G n.3460T>G | ClinVar dbSNP |
| 1 | g.197435162T>C | CA228035 | CRB1 | c.3299T>C (p.Ile1100Thr) c.2180T>C (p.Ile727Thr) c.1442T>C (p.Ile481Thr) c.2963T>C (p.Ile988Thr) c.3227T>C (p.Ile1076Thr) c.2129-438T>C (n.2129-438T>C) n.3300T>C n.3508T>C c.2717T>C (p.Ile906Thr) c.1742T>C (p.Ile581Thr) c.2456T>C (p.Ile819Thr) c.3434T>C (p.Ile1145Thr) n.3252T>C n.3460T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435162T= | CA1140762963 | CRB1 | c.3299T= (p.Ile1100=) c.2180T= (p.Ile727=) c.1442T= (p.Ile481=) c.2963T= (p.Ile988=) c.3227T= (p.Ile1076=) c.2129-438T= (n.2129-438T=) n.3300T= n.3508T= c.2717T= (p.Ile906=) c.1742T= (p.Ile581=) c.2456T= (p.Ile819=) c.3434T= (p.Ile1145=) n.3252T= n.3460T= | dbSNP |