| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.238262991G>T | CA67975610 | PER2 | c.1114C>A (p.Pro372Thr) c.1047-647C>A (n.1047-647C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.238262991G>A | CA2197525 | PER2 | c.1114C>T (p.Pro372Ser) c.1047-647C>T (n.1047-647C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.238262991G= | CA1338042103 | PER2 | c.1114C= (p.Pro372=) c.1047-647C= (n.1047-647C=) | dbSNP |