| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28687974G>A | CA288290 | CHEK2 | c.*290C>T (n.*290C>T) c.1354C>T (p.Arg452Ter) c.1555C>T (p.Arg519Ter) c.892C>T (p.Arg298Ter) c.895C>T (p.Arg299Ter) n.1107C>T c.1468C>T (p.Arg490Ter) c.1684C>T (p.Arg562Ter) c.1282C>T (p.Arg428Ter) c.*1045C>T (n.*1045C>T) c.1464C>T (n.1464C>T) c.1493C>T (n.1493C>T) c.753C>T c.1445C>T (n.1445C>T) c.357C>T n.289C>T c.1075C>T (p.Arg359Ter) c.1012C>T (p.Arg338Ter) c.1714C>T (p.Arg572Ter) c.1627C>T (p.Arg543Ter) c.1483C>T (p.Arg495Ter) c.1384C>T (p.Arg462Ter) n.1714C>T c.1108C>T (p.Arg370Ter) c.1678C>T (p.Arg560Ter) c.1585C>T (p.Arg529Ter) c.1498C>T (p.Arg500Ter) n.1725C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28687974G>C | CA10167610 | CHEK2 | c.*290C>G (n.*290C>G) c.1354C>G (p.Arg452Gly) c.1555C>G (p.Arg519Gly) c.892C>G (p.Arg298Gly) c.895C>G (p.Arg299Gly) n.1107C>G c.1468C>G (p.Arg490Gly) c.1684C>G (p.Arg562Gly) c.1282C>G (p.Arg428Gly) c.*1045C>G (n.*1045C>G) c.1464C>G (n.1464C>G) c.1493C>G (n.1493C>G) c.753C>G c.1445C>G (n.1445C>G) c.357C>G n.289C>G c.1075C>G (p.Arg359Gly) c.1012C>G (p.Arg338Gly) c.1714C>G (p.Arg572Gly) c.1627C>G (p.Arg543Gly) c.1483C>G (p.Arg495Gly) c.1384C>G (p.Arg462Gly) n.1714C>G c.1108C>G (p.Arg370Gly) c.1678C>G (p.Arg560Gly) c.1585C>G (p.Arg529Gly) c.1498C>G (p.Arg500Gly) n.1725C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.28687974G= | CA2400234748 | CHEK2 | c.*290C= (n.*290C=) c.1354C= (p.Arg452=) c.1555C= (p.Arg519=) c.892C= (p.Arg298=) c.895C= (p.Arg299=) n.1107C= c.1468C= (p.Arg490=) c.1684C= (p.Arg562=) c.1282C= (p.Arg428=) c.*1045C= (n.*1045C=) c.1464C= (n.1464C=) c.1493C= (n.1493C=) c.753C= c.1445C= (n.1445C=) c.357C= n.289C= c.1075C= (p.Arg359=) c.1012C= (p.Arg338=) c.1714C= (p.Arg572=) c.1627C= (p.Arg543=) c.1483C= (p.Arg495=) c.1384C= (p.Arg462=) n.1714C= c.1108C= (p.Arg370=) c.1678C= (p.Arg560=) c.1585C= (p.Arg529=) c.1498C= (p.Arg500=) n.1725C= | dbSNP |