| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152310100G>A | CA10602733 | FLG | c.4786C>T (p.Gln1596Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.152310100G>T | CA1106060 | FLG | c.4786C>A (p.Gln1596Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310100G>C | CA342071645 | FLG | c.4786C>G (p.Gln1596Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310100G= | CA2479950678 | FLG | c.4786C= (p.Gln1596=) | dbSNP |