| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152304939G>T | CA342074419 | FLG | c.9947C>A (p.Ser3316Ter) c.9108+839C>A (n.9108+839C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304939G>C | CA1103615 | FLG | c.9947C>G (p.Ser3316Ter) c.9108+839C>G (n.9108+839C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304939G= | CA1142305986 | FLG | c.9947C= (p.Ser3316=) c.9108+839C= (n.9108+839C=) | dbSNP |