| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.111672685T>C | CA6791338 | BRAP | c.723A>G (p.Arg241=) c.633A>G (p.Arg211=) n.627A>G c.846A>G (p.Arg282=) c.276A>G (p.Arg92=) c.11A>G (p.Glu4Gly) c.561A>G (p.Arg187=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.111672685T>A | CA386735438 | BRAP | c.723A>T (p.Arg241Ser) c.633A>T (p.Arg211Ser) n.627A>T c.846A>T (p.Arg282Ser) c.276A>T (p.Arg92Ser) c.11A>T (p.Glu4Val) c.561A>T (p.Arg187Ser) | dbSNP |
| 12 | g.111672685T= | CA2063429331 | BRAP | c.723A= (p.Arg241=) c.633A= (p.Arg211=) n.627A= c.846A= (p.Arg282=) c.276A= (p.Arg92=) c.11A= (p.Glu4=) c.561A= (p.Arg187=) | dbSNP |
| 12 | g.111672685T>G | CA386735439 | BRAP | c.723A>C (p.Arg241Ser) c.633A>C (p.Arg211Ser) n.627A>C c.846A>C (p.Arg282Ser) c.276A>C (p.Arg92Ser) c.11A>C (p.Glu4Ala) c.561A>C (p.Arg187Ser) | dbSNP |