| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28694073G>C | CA16616546 | CHEK2 | c.*155C>G (n.*155C>G) c.1219C>G (p.Arg407Gly) c.1420C>G (p.Arg474Gly) c.757C>G (p.Arg253Gly) c.760C>G (p.Arg254Gly) n.972C>G c.1333C>G (p.Arg445Gly) c.1549C>G (p.Arg517Gly) c.1147C>G (p.Arg383Gly) c.*910C>G (n.*910C>G) c.1329C>G (n.1329C>G) c.1358C>G (n.1358C>G) c.618C>G c.1310C>G (n.1310C>G) c.264-4858C>G c.940C>G (p.Arg314Gly) c.877C>G (p.Arg293Gly) c.1579C>G (p.Arg527Gly) c.1492C>G (p.Arg498Gly) c.1348C>G (p.Arg450Gly) c.1249C>G (p.Arg417Gly) n.1579C>G c.973C>G (p.Arg325Gly) c.1543C>G (p.Arg515Gly) c.1450C>G (p.Arg484Gly) c.1363C>G (p.Arg455Gly) n.1590C>G | ClinVar dbSNP |
| 22 | g.28694073G>T | CA10577632 | CHEK2 | c.*155C>A (n.*155C>A) c.1219C>A (p.Arg407Ser) c.1420C>A (p.Arg474Ser) c.757C>A (p.Arg253Ser) c.760C>A (p.Arg254Ser) n.972C>A c.1333C>A (p.Arg445Ser) c.1549C>A (p.Arg517Ser) c.1147C>A (p.Arg383Ser) c.*910C>A (n.*910C>A) c.1329C>A (n.1329C>A) c.1358C>A (n.1358C>A) c.618C>A c.1310C>A (n.1310C>A) c.264-4858C>A c.940C>A (p.Arg314Ser) c.877C>A (p.Arg293Ser) c.1579C>A (p.Arg527Ser) c.1492C>A (p.Arg498Ser) c.1348C>A (p.Arg450Ser) c.1249C>A (p.Arg417Ser) n.1579C>A c.973C>A (p.Arg325Ser) c.1543C>A (p.Arg515Ser) c.1450C>A (p.Arg484Ser) c.1363C>A (p.Arg455Ser) n.1590C>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.28694073G>A | CA288280 | CHEK2 | c.*155C>T (n.*155C>T) c.1219C>T (p.Arg407Cys) c.1420C>T (p.Arg474Cys) c.757C>T (p.Arg253Cys) c.760C>T (p.Arg254Cys) n.972C>T c.1333C>T (p.Arg445Cys) c.1549C>T (p.Arg517Cys) c.1147C>T (p.Arg383Cys) c.*910C>T (n.*910C>T) c.1329C>T (n.1329C>T) c.1358C>T (n.1358C>T) c.618C>T c.1310C>T (n.1310C>T) c.264-4858C>T c.940C>T (p.Arg314Cys) c.877C>T (p.Arg293Cys) c.1579C>T (p.Arg527Cys) c.1492C>T (p.Arg498Cys) c.1348C>T (p.Arg450Cys) c.1249C>T (p.Arg417Cys) n.1579C>T c.973C>T (p.Arg325Cys) c.1543C>T (p.Arg515Cys) c.1450C>T (p.Arg484Cys) c.1363C>T (p.Arg455Cys) n.1590C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |