| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152311335G>T | CA16616975 | FLG | c.3551C>A (p.Ser1184Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.152311335G>C | CA342082499 | FLG | c.3551C>G (p.Ser1184Trp) | dbSNP |
| 1 | g.152311335G>A | CA1106632 | FLG | c.3551C>T (p.Ser1184Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311335G= | CA1139986948 | FLG | c.3551C= (p.Ser1184=) | dbSNP |