| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.190409941A>G | CA2753918 | CLDN16 | c.613A>G (p.Lys205Glu) c.*3A>G (n.*3A>G) c.823A>G (p.Lys275Glu) c.363A>G (n.363A>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.190409941A>T | CA129189 | CLDN16 | c.613A>T (p.Lys205Ter) c.*3A>T (n.*3A>T) c.823A>T (p.Lys275Ter) c.363A>T (n.363A>T) | ClinVar dbSNP |