| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152305146G>C | CA342076035 | FLG | c.9740C>G (p.Ser3247Ter) c.9108+632C>G (n.9108+632C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152305146G>T | CA1103704 | FLG | c.9740C>A (p.Ser3247Ter) c.9108+632C>A (n.9108+632C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152305146G>A | CA1103705 | FLG | c.9740C>T (p.Ser3247Leu) c.9108+632C>T (n.9108+632C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |