| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.110621214T>C | CA357985468 | PITX2 | c.185-2526A>G (n.185-2526A>G) c.259A>G (p.Thr87Ala) n.327A>G n.331A>G c.340A>G (p.Thr114Ala) n.403A>G c.361A>G (p.Thr121Ala) n.292A>G c.202A>G (p.Thr68Ala) c.7A>G (p.Thr3Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110621214T>G | CA119283 | PITX2 | c.185-2526A>C (n.185-2526A>C) c.259A>C (p.Thr87Pro) n.327A>C n.331A>C c.340A>C (p.Thr114Pro) n.403A>C c.361A>C (p.Thr121Pro) n.292A>C c.202A>C (p.Thr68Pro) c.7A>C (p.Thr3Pro) | ClinVar dbSNP |