| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152309494G>A | CA1105786 | FLG | c.5392C>T (p.Arg1798Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309494G>C | CA1105785 | FLG | c.5392C>G (p.Arg1798Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309494G>T | CA1105787 | FLG | c.5392C>A (p.Arg1798=) | dbSNP ExAC gnomAD v2 gnomAD v4 |