Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7827211C>T | CA568360 | PER3 | c.2282C>T (p.Ser761Leu) c.2258C>T (p.Ser753Leu) c.2261C>T (p.Ser754Leu) c.1325C>T (p.Ser442Leu) c.2279C>T (p.Ser760Leu) c.1757C>T (p.Ser586Leu) c.2114C>T (p.Ser705Leu) c.1934C>T (p.Ser645Leu) c.1919C>T (p.Ser640Leu) c.1913C>T (p.Ser638Leu) c.890C>T (p.Ser297Leu) c.1736C>T (p.Ser579Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7827211C>G | CA338148622 | PER3 | c.2282C>G (p.Ser761Trp) c.2258C>G (p.Ser753Trp) c.2261C>G (p.Ser754Trp) c.1325C>G (p.Ser442Trp) c.2279C>G (p.Ser760Trp) c.1757C>G (p.Ser586Trp) c.2114C>G (p.Ser705Trp) c.1934C>G (p.Ser645Trp) c.1919C>G (p.Ser640Trp) c.1913C>G (p.Ser638Trp) c.890C>G (p.Ser297Trp) c.1736C>G (p.Ser579Trp) | dbSNP gnomAD v4 |