| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.190402428C>T | CA2753786 | CLDN16 | c.206C>T (p.Ala69Val) c.115-7475C>T (n.115-7475C>T) c.416C>T (p.Ala139Val) c.325-7475C>T (n.325-7475C>T) n.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190402428C>G | CA355765794 | CLDN16 | c.206C>G (p.Ala69Gly) c.115-7475C>G (n.115-7475C>G) c.416C>G (p.Ala139Gly) c.325-7475C>G (n.325-7475C>G) n.398C>G | dbSNP gnomAD v4 |
| 3 | g.190402428C>A | CA355765793 | CLDN16 | c.206C>A (p.Ala69Glu) c.115-7475C>A (n.115-7475C>A) c.416C>A (p.Ala139Glu) c.325-7475C>A (n.325-7475C>A) n.398C>A | dbSNP gnomAD v4 |
| 3 | g.190402428C= | CA1428757087 | CLDN16 | c.206C= (p.Ala69=) c.115-7475C= (n.115-7475C=) c.416C= (p.Ala139=) c.325-7475C= (n.325-7475C=) n.398C= | dbSNP |