| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.158192107C>T | CA115339 | GTF2H5 | n.225C>T n.41-1103C>T c.166C>T (p.Arg56Ter) c.*131C>T (n.*131C>T) c.196C>T (p.Arg66Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.158192107C>G | CA366253602 | GTF2H5 | n.225C>G n.41-1103C>G c.166C>G (p.Arg56Gly) c.*131C>G (n.*131C>G) c.196C>G (p.Arg66Gly) | dbSNP gnomAD v2 gnomAD v4 |