| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137199473C>T | CA113906 | TPRN | c.1239G>A (p.Trp413Ter) c.633G>A (p.Trp211Ter) n.90+4631G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.137199473C= | CA1884351210 | TPRN | c.1239G= (p.Trp413=) c.633G= (p.Trp211=) n.90+4631G= | dbSNP |
| 9 | g.137199473C>A | CA375777127 | TPRN | c.1239G>T (p.Trp413Cys) c.633G>T (p.Trp211Cys) n.90+4631G>T | dbSNP gnomAD v4 |