| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.190408314G>A | CA117861 | CLDN16 | c.383G>A (p.Gly128Asp) c.115-1589G>A (n.115-1589G>A) c.593G>A (p.Gly198Asp) c.325-1589G>A (n.325-1589G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190408314G>T | CA355766914 | CLDN16 | c.383G>T (p.Gly128Val) c.115-1589G>T (n.115-1589G>T) c.593G>T (p.Gly198Val) c.325-1589G>T (n.325-1589G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.190408314G= | CA1428762629 | CLDN16 | c.383G= (p.Gly128=) c.115-1589G= (n.115-1589G=) c.593G= (p.Gly198=) c.325-1589G= (n.325-1589G=) | dbSNP |