| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8144965G>A | CA8369315 | PER1 | c.2247C>T (p.Gly749=) c.2199C>T (p.Gly733=) n.298-118C>T n.206C>T c.2187C>T (p.Gly729=) c.*242C>T (n.*242C>T) c.96C>T (p.Gly32=) c.2067C>T (p.Gly689=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8144965G= | CA2246174454 | PER1 | c.2247C= (p.Gly749=) c.2199C= (p.Gly733=) n.298-118C= n.206C= c.2187C= (p.Gly729=) c.*242C= (n.*242C=) c.96C= (p.Gly32=) c.2067C= (p.Gly689=) | dbSNP |