| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7827519C>G | CA568460 | PER3 | c.2590C>G (p.Pro864Ala) c.2566C>G (p.Pro856Ala) c.2569C>G (p.Pro857Ala) c.1633C>G (p.Pro545Ala) c.2587C>G (p.Pro863Ala) c.2065C>G (p.Pro689Ala) c.2422C>G (p.Pro808Ala) c.2242C>G (p.Pro748Ala) c.2227C>G (p.Pro743Ala) c.2221C>G (p.Pro741Ala) c.1198C>G (p.Pro400Ala) c.2044C>G (p.Pro682Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7827519C= | CA1139782650 | PER3 | c.2590C= (p.Pro864=) c.2566C= (p.Pro856=) c.2569C= (p.Pro857=) c.1633C= (p.Pro545=) c.2587C= (p.Pro863=) c.2065C= (p.Pro689=) c.2422C= (p.Pro808=) c.2242C= (p.Pro748=) c.2227C= (p.Pro743=) c.2221C= (p.Pro741=) c.1198C= (p.Pro400=) c.2044C= (p.Pro682=) | dbSNP |
| 1 | g.7827519C>A | CA338150060 | PER3 | c.2590C>A (p.Pro864Thr) c.2566C>A (p.Pro856Thr) c.2569C>A (p.Pro857Thr) c.1633C>A (p.Pro545Thr) c.2587C>A (p.Pro863Thr) c.2065C>A (p.Pro689Thr) c.2422C>A (p.Pro808Thr) c.2242C>A (p.Pro748Thr) c.2227C>A (p.Pro743Thr) c.2221C>A (p.Pro741Thr) c.1198C>A (p.Pro400Thr) c.2044C>A (p.Pro682Thr) | dbSNP gnomAD v4 |
| 1 | g.7827519C>T | CA338150061 | PER3 | c.2590C>T (p.Pro864Ser) c.2566C>T (p.Pro856Ser) c.2569C>T (p.Pro857Ser) c.1633C>T (p.Pro545Ser) c.2587C>T (p.Pro863Ser) c.2065C>T (p.Pro689Ser) c.2422C>T (p.Pro808Ser) c.2242C>T (p.Pro748Ser) c.2227C>T (p.Pro743Ser) c.2221C>T (p.Pro741Ser) c.1198C>T (p.Pro400Ser) c.2044C>T (p.Pro682Ser) | dbSNP gnomAD v4 COSMIC |