Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.190404768T>C | CA117869 | CLDN16 | c.224T>C (p.Leu75Pro) c.115-5135T>C (n.115-5135T>C) c.434T>C (p.Leu145Pro) c.325-5135T>C (n.325-5135T>C) n.416T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.190404768T= | CA1428759275 | CLDN16 | c.224T= (p.Leu75=) c.115-5135T= (n.115-5135T=) c.434T= (p.Leu145=) c.325-5135T= (n.325-5135T=) n.416T= | dbSNP |