| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.19116781C>G | CA4174466 | TWIST1 | c.541G>C (p.Glu181Gln) c.338G>C c.144G>C n.892G>C n.856G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116781C>A | CA254292 | TWIST1 | c.541G>T (p.Glu181Ter) c.338G>T c.144G>T n.892G>T n.856G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.19116781C>T | CA155466573 | TWIST1 | c.541G>A (p.Glu181Lys) c.338G>A c.144G>A n.892G>A n.856G>A | dbSNP gnomAD v4 COSMIC |