Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.190408436G>A | CA117859 | CLDN16 | c.505G>A (p.Gly169Arg) c.115-1467G>A (n.115-1467G>A) c.715G>A (p.Gly239Arg) c.325-1467G>A (n.325-1467G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.190408436G>T | CA355767179 | CLDN16 | c.505G>T (p.Gly169Ter) c.115-1467G>T (n.115-1467G>T) c.715G>T (p.Gly239Ter) c.325-1467G>T (n.325-1467G>T) | dbSNP gnomAD v4 |