| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.136046406C>A | CA119125 | TGFBI | c.370C>A (p.Arg124Ser) n.527C>A n.435C>A c.287C>A n.662C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.136046406C>T | CA119121 | TGFBI | c.370C>T (p.Arg124Cys) n.527C>T n.435C>T c.287C>T n.662C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |