| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152304999G>T | CA1103634 | FLG | c.9887C>A (p.Ser3296Ter) c.9108+779C>A (n.9108+779C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304999G>C | CA342074872 | FLG | c.9887C>G (p.Ser3296Ter) c.9108+779C>G (n.9108+779C>G) | dbSNP gnomAD v4 |
| 1 | g.152304999G= | CA2479947765 | FLG | c.9887C= (p.Ser3296=) c.9108+779C= (n.9108+779C=) | dbSNP |