| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.190404779C>T | CA117857 | CLDN16 | c.235C>T (p.Arg79Ter) c.115-5124C>T (n.115-5124C>T) c.445C>T (p.Arg149Ter) c.325-5124C>T (n.325-5124C>T) n.427C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190404779C= | CA1428759294 | CLDN16 | c.235C= (p.Arg79=) c.115-5124C= (n.115-5124C=) c.445C= (p.Arg149=) c.325-5124C= (n.325-5124C=) n.427C= | dbSNP |
| 3 | g.190404779C>G | CA355765990 | CLDN16 | c.235C>G (p.Arg79Gly) c.115-5124C>G (n.115-5124C>G) c.445C>G (p.Arg149Gly) c.325-5124C>G (n.325-5124C>G) n.427C>G | dbSNP gnomAD v4 |