| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.130209734G>T | CA383324486 | ST14 | c.2479G>T (p.Gly827Ter) | dbSNP gnomAD v4 |
| 11 | g.130209734G>C | CA230708439 | ST14 | c.2479G>C (p.Gly827Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.130209734G>A | CA116624 | ST14 | c.2479G>A (p.Gly827Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.130209734G= | CA2008891910 | ST14 | c.2479G= (p.Gly827=) | dbSNP |