| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.100960259C>T | CA339641 | MUC3A | c.8480C>T (p.Thr2827Ile) c.2295C>T c.8450C>T (p.Thr2817Ile) c.8399C>T (p.Thr2800Ile) c.8246C>T (p.Thr2749Ile) c.7739C>T (p.Thr2580Ile) c.5429C>T (p.Thr1810Ile) n.126+3844G>A n.43+2014G>A c.7940C>T (p.Thr2647Ile) n.478+6110G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.100960259C>A | CA368592397 | MUC3A | c.8480C>A (p.Thr2827Lys) c.2295C>A c.8450C>A (p.Thr2817Lys) c.8399C>A (p.Thr2800Lys) c.8246C>A (p.Thr2749Lys) c.7739C>A (p.Thr2580Lys) c.5429C>A (p.Thr1810Lys) n.126+3844G>T n.43+2014G>T c.7940C>A (p.Thr2647Lys) n.478+6110G>T | dbSNP gnomAD v4 |