Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94614466G>C | CA390853128 | SERPINA3 | c.25G>C (p.Ala9Pro) c.988G>C n.57+2019G>C | dbSNP |
14 | g.94614466G>A | CA127759 | SERPINA3 | c.25G>A (p.Ala9Thr) c.988G>A n.57+2019G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94614466G= | CA1630856189 | SERPINA3 | c.25G= (p.Ala9=) c.988G= n.57+2019G= | dbSNP |