| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152313060G>A | CA1107451 | FLG | c.1826C>T (p.Ser609Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313060G>T | CA1107450 | FLG | c.1826C>A (p.Ser609Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152313060G= | CA1142034012 | FLG | c.1826C= (p.Ser609=) | dbSNP dbSNP |