Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304661G>A | CA1103462 | FLG | c.10225C>T (p.Arg3409Ter) c.9109-828C>T (n.9109-828C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304661G>C | CA1103461 | FLG | c.10225C>G (p.Arg3409Gly) c.9109-828C>G (n.9109-828C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |