| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.8359916C>A | CA338170520 | RERE | c.1804G>T (p.Gly602Trp) c.3466G>T (p.Gly1156Trp) c.2662G>T (p.Gly888Trp) c.1541-4317G>T (n.1541-4317G>T) c.307+1544G>T (n.307+1544G>T) c.3340G>T (p.Gly1114Trp) c.3395+196G>T (n.3395+196G>T) | ClinVar dbSNP |
| 1 | g.8359916C>T | CA571136 | RERE | c.1804G>A (p.Gly602Arg) c.3466G>A (p.Gly1156Arg) c.2662G>A (p.Gly888Arg) c.1541-4317G>A (n.1541-4317G>A) c.307+1544G>A (n.307+1544G>A) c.3340G>A (p.Gly1114Arg) c.3395+196G>A (n.3395+196G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |