| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152303358G>C | CA16042294 | FLG | c.11528C>G (p.Ser3843Ter) c.9584C>G (p.Ser3195Ter) | ClinVar dbSNP |
| 1 | g.152303358G>T | CA342057237 | FLG | c.11528C>A (p.Ser3843Ter) c.9584C>A (p.Ser3195Ter) | dbSNP gnomAD v2 gnomAD v4 |