Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.190408425C>A | CA355767154 | CLDN16 | c.494C>A (p.Ser165Tyr) c.115-1478C>A (n.115-1478C>A) c.704C>A (p.Ser235Tyr) c.325-1478C>A (n.325-1478C>A) | ClinVar dbSNP gnomAD v2 |
3 | g.190408425C>T | CA117866 | CLDN16 | c.494C>T (p.Ser165Phe) c.115-1478C>T (n.115-1478C>T) c.704C>T (p.Ser235Phe) c.325-1478C>T (n.325-1478C>T) | ClinVar dbSNP |