| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152308956G>T | CA1105508 | FLG | c.5930C>A (p.Ser1977Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308956G>C | CA1105507 | FLG | c.5930C>G (p.Ser1977Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308956G>A | CA1105506 | FLG | c.5930C>T (p.Ser1977Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |