| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152303313C>A | CA1102856 | FLG | c.11573G>T (p.Arg3858Leu) c.9629G>T (p.Arg3210Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303313C>T | CA235752 | FLG | c.11573G>A (p.Arg3858His) c.9629G>A (p.Arg3210His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303313C>G | CA342056916 | FLG | c.11573G>C (p.Arg3858Pro) c.9629G>C (p.Arg3210Pro) | dbSNP gnomAD v4 |
| 1 | g.152303313C= | CA1140876382 | FLG | c.11573G= (p.Arg3858=) c.9629G= (p.Arg3210=) | dbSNP |