Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152307622C>A | CA1104824 | FLG | c.7264G>T (p.Glu2422Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307622C>T | CA1104825 | FLG | c.7264G>A (p.Glu2422Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307622C= | CA1144004771 | FLG | c.7264G= (p.Glu2422=) | dbSNP |