| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8144851T>C | CA8369288 | PER1 | c.2361A>G (p.Thr787=) c.2313A>G (p.Thr771=) n.298-4A>G n.320A>G c.2301A>G (p.Thr767=) c.*356A>G (n.*356A>G) c.210A>G (p.Thr70=) c.2181A>G (p.Thr727=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8144851T>G | CA497956171 | PER1 | c.2361A>C (p.Thr787=) c.2313A>C (p.Thr771=) n.298-4A>C n.320A>C c.2301A>C (p.Thr767=) c.*356A>C (n.*356A>C) c.210A>C (p.Thr70=) c.2181A>C (p.Thr727=) | dbSNP gnomAD v4 |
| 17 | g.8144851T= | CA2246174391 | PER1 | c.2361A= (p.Thr787=) c.2313A= (p.Thr771=) n.298-4A= n.320A= c.2301A= (p.Thr767=) c.*356A= (n.*356A=) c.210A= (p.Thr70=) c.2181A= (p.Thr727=) | dbSNP |
| 17 | g.8144851T>A | CA497956170 | PER1 | c.2361A>T (p.Thr787=) c.2313A>T (p.Thr771=) n.298-4A>T n.320A>T c.2301A>T (p.Thr767=) c.*356A>T (n.*356A>T) c.210A>T (p.Thr70=) c.2181A>T (p.Thr727=) | dbSNP gnomAD v4 |