| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152309169G>T | CA1105629 | FLG | c.5717C>A (p.Ser1906Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309169G>A | CA1105630 | FLG | c.5717C>T (p.Ser1906Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309169G= | CA1141826454 | FLG | c.5717C= (p.Ser1906=) | dbSNP |