Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152310981G>T | CA1106458 | FLG | c.3905C>A (p.Ser1302Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310981G>A | CA1106457 | FLG | c.3905C>T (p.Ser1302Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310981G>C | CA342080484 | FLG | c.3905C>G (p.Ser1302Ter) | dbSNP gnomAD v3 gnomAD v4 |