| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7830057T>C | CA568662 | PER3 | c.3110T>C (p.Met1037Thr) c.3083T>C (p.Met1028Thr) c.3053T>C (p.Met1018Thr) c.3032T>C (p.Met1011Thr) c.2150T>C (p.Met717Thr) c.3107T>C (p.Met1036Thr) c.3089T>C (p.Met1030Thr) c.2585T>C (p.Met862Thr) c.3086T>C (p.Met1029Thr) c.2942T>C (p.Met981Thr) c.2762T>C (p.Met921Thr) c.2747T>C (p.Met916Thr) c.3104T>C (p.Met1035Thr) c.2759T>C (p.Met920Thr) c.2738T>C (p.Met913Thr) c.2741T>C (p.Met914Thr) c.2582T>C (p.Met861Thr) c.1718T>C (p.Met573Thr) c.1715T>C (p.Met572Thr) c.2564T>C (p.Met855Thr) c.2561T>C (p.Met854Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7830057T= | CA1139947027 | PER3 | c.3110T= (p.Met1037=) c.3083T= (p.Met1028=) c.3053T= (p.Met1018=) c.3032T= (p.Met1011=) c.2150T= (p.Met717=) c.3107T= (p.Met1036=) c.3089T= (p.Met1030=) c.2585T= (p.Met862=) c.3086T= (p.Met1029=) c.2942T= (p.Met981=) c.2762T= (p.Met921=) c.2747T= (p.Met916=) c.3104T= (p.Met1035=) c.2759T= (p.Met920=) c.2738T= (p.Met913=) c.2741T= (p.Met914=) c.2582T= (p.Met861=) c.1718T= (p.Met573=) c.1715T= (p.Met572=) c.2564T= (p.Met855=) c.2561T= (p.Met854=) | dbSNP |