| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.3457572A>G | CA254028 | TGIF1 | c.391A>G (p.Thr131Ala) c.451A>G (p.Thr151Ala) c.838A>G (p.Thr280Ala) c.*164A>G (n.*164A>G) c.493A>G (p.Thr165Ala) c.460A>G (p.Thr154Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457572A>C | CA401723553 | TGIF1 | c.391A>C (p.Thr131Pro) c.451A>C (p.Thr151Pro) c.838A>C (p.Thr280Pro) c.*164A>C (n.*164A>C) c.493A>C (p.Thr165Pro) c.460A>C (p.Thr154Pro) | dbSNP |