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 |