| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150860577C>G | CA4566324 | AOC1 | c.1933C>G (p.His645Asp) c.1990C>G (p.His664Asp) n.610C>G c.1927C>G (p.His643Asp) c.511C>G (p.His171Asp) n.295+16432G>C n.425+8039G>C n.297+16432G>C n.301+16432G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150860577C>T | CA169077814 | AOC1 | c.1933C>T (p.His645Tyr) c.1990C>T (p.His664Tyr) n.610C>T c.1927C>T (p.His643Tyr) c.511C>T (p.His171Tyr) n.295+16432G>A n.425+8039G>A n.297+16432G>A n.301+16432G>A | dbSNP |