| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152314107G>T | CA1107909 | FLG | c.779C>A (p.Ser260Ter) n.580+69G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152314107G>C | CA1107910 | FLG | c.779C>G (p.Ser260Ter) n.580+69G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152314107G= | CA1143381098 | FLG | c.779C= (p.Ser260=) n.580+69G= | dbSNP dbSNP |