Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152303434G>A | CA1102904 | FLG | c.11452C>T (p.Gln3818Ter) c.9508C>T (p.Gln3170Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152303434G>T | CA1102905 | FLG | c.11452C>A (p.Gln3818Lys) c.9508C>A (p.Gln3170Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152303434G>C | CA342057983 | FLG | c.11452C>G (p.Gln3818Glu) c.9508C>G (p.Gln3170Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |