| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.172475080G>A | CA1968043 | ITGA6,ITGA6-AS1 | c.1138G>A (p.Ala380Thr) c.1255G>A (p.Ala419Thr) c.781G>A (p.Ala261Thr) c.1123G>A (p.Ala375Thr) c.796G>A (p.Ala266Thr) n.410-10506C>T n.410-9059C>T n.521-9059C>T n.505-10506C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.172475080G= | CA1307823410 | ITGA6,ITGA6-AS1 | c.1138G= (p.Ala380=) c.1255G= (p.Ala419=) c.781G= (p.Ala261=) c.1123G= (p.Ala375=) c.796G= (p.Ala266=) n.410-10506C= n.410-9059C= n.521-9059C= n.505-10506C= | dbSNP |