| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152307225G>C | CA126362 | FLG | c.7661C>G (p.Ser2554Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307225G>T | CA342045060 | FLG | c.7661C>A (p.Ser2554Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152307225G>A | CA342045054 | FLG | c.7661C>T (p.Ser2554Leu) | dbSNP gnomAD v4 |
| 1 | g.152307225G= | CA1141581056 | FLG | c.7661C= (p.Ser2554=) | dbSNP |