| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152313385G>T | CA1107605 | FLG | c.1501C>A (p.Arg501=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313385G>C | CA342098969 | FLG | c.1501C>G (p.Arg501Gly) | dbSNP gnomAD v4 |
| 1 | g.152313385G>A | CA126359 | FLG | c.1501C>T (p.Arg501Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |