| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152307547G>T | CA1104780 | FLG | c.7339C>A (p.Arg2447=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307547G>C | CA1104779 | FLG | c.7339C>G (p.Arg2447Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307547G>A | CA1104778 | FLG | c.7339C>T (p.Arg2447Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |