| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160421171C>T | CA120083 | VANGL2 | c.1201C>T (p.Arg401Cys) c.1057C>T (p.Arg353Cys) n.237C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.160421171C>G | CA1199586 | VANGL2 | c.1201C>G (p.Arg401Gly) c.1057C>G (p.Arg353Gly) n.237C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160421171C= | CA1143538415 | VANGL2 | c.1201C= (p.Arg401=) c.1057C= (p.Arg353=) n.237C= | dbSNP |
| 1 | g.160421171C>A | CA343286374 | VANGL2 | c.1201C>A (p.Arg401Ser) c.1057C>A (p.Arg353Ser) n.237C>A | dbSNP gnomAD v4 |