| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152303917G>A | CA1103108 | FLG | c.10969C>T (p.Arg3657Ter) c.9109-84C>T (n.9109-84C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303917G>C | CA1103109 | FLG | c.10969C>G (p.Arg3657Gly) c.9109-84C>G (n.9109-84C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303917G= | CA1149064076 | FLG | c.10969C= (p.Arg3657=) c.9109-84C= (n.9109-84C=) | dbSNP |