| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152312459C>G | CA1107179 | FLG | c.2427G>C (p.Trp809Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312459C>T | CA10602756 | FLG | c.2427G>A (p.Trp809Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312459C>A | CA342089730 | FLG | c.2427G>T (p.Trp809Cys) | dbSNP |
| 1 | g.152312459C= | CA1148241786 | FLG | c.2427G= (p.Trp809=) | dbSNP |