| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.69711242G>A | CA126904 | NQO1 | c.559C>T (p.Pro187Ser) c.445C>T (p.Pro149Ser) c.457C>T (p.Pro153Ser) c.343C>T (p.Pro115Ser) c.496C>T (p.Pro166Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.69711242G= | CA2230368376 | NQO1 | c.559C= (p.Pro187=) c.445C= (p.Pro149=) c.457C= (p.Pro153=) c.343C= (p.Pro115=) c.496C= (p.Pro166=) | dbSNP |
| 16 | g.69711242G>C | CA396487880 | NQO1 | c.559C>G (p.Pro187Ala) c.445C>G (p.Pro149Ala) c.457C>G (p.Pro153Ala) c.343C>G (p.Pro115Ala) c.496C>G (p.Pro166Ala) | dbSNP gnomAD v4 |
| 16 | g.69711242G>T | CA396487881 | NQO1 | c.559C>A (p.Pro187Thr) c.445C>A (p.Pro149Thr) c.457C>A (p.Pro153Thr) c.343C>A (p.Pro115Thr) c.496C>A (p.Pro166Thr) | dbSNP |