| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135028828C>A | CA361027280 | PITX1 | c.896G>T (p.Gly299Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028828C>G | CA3417525 | PITX1 | c.896G>C (p.Gly299Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028828C>T | CA361027281 | PITX1 | c.896G>A (p.Gly299Asp) | dbSNP gnomAD v4 |
| 5 | g.135028828C= | CA1584338784 | PITX1 | c.896G= (p.Gly299=) | dbSNP |