| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152313823G>A | CA1107811 | FLG | c.1063C>T (p.Gln355Ter) n.365G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313823G>C | CA342101486 | FLG | c.1063C>G (p.Gln355Glu) n.365G>C | dbSNP |
| 1 | g.152313823G>T | CA1107812 | FLG | c.1063C>A (p.Gln355Lys) n.365G>T | dbSNP ExAC gnomAD v2 |