| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152311957G>A | CA1106918 | FLG | c.2929C>T (p.Gln977Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311957G>C | CA1106919 | FLG | c.2929C>G (p.Gln977Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311957G>T | CA342086542 | FLG | c.2929C>A (p.Gln977Lys) | dbSNP gnomAD v2 gnomAD v4 |