Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.667922T>C | CA2795056 | PDE6B | c.2419T>C (p.Trp807Arg) c.1582T>C (p.Trp528Arg) c.261T>C c.432+1308T>C (n.432+1308T>C) c.2638T>C (p.Trp880Arg) c.2571+1308T>C (n.2571+1308T>C) c.1624T>C (p.Trp542Arg) c.1348T>C (p.Trp450Arg) c.1264T>C (p.Trp422Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.667922T>A | CA256723 | PDE6B | c.2419T>A (p.Trp807Arg) c.1582T>A (p.Trp528Arg) c.261T>A c.432+1308T>A (n.432+1308T>A) c.2638T>A (p.Trp880Arg) c.2571+1308T>A (n.2571+1308T>A) c.1624T>A (p.Trp542Arg) c.1348T>A (p.Trp450Arg) c.1264T>A (p.Trp422Arg) | ClinVar dbSNP |