Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152307697G>A | CA1104864 | FLG | c.7189C>T (p.Gln2397Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307697G>T | CA342048241 | FLG | c.7189C>A (p.Gln2397Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307697G>C | CA1104865 | FLG | c.7189C>G (p.Gln2397Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |