| 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 |
| 1 | g.152304661G>T | CA420926654 | FLG | c.10225C>A (p.Arg3409=) c.9109-828C>A (n.9109-828C>A) | dbSNP gnomAD v4 |
| 1 | g.152304661G= | CA1143477615 | FLG | c.10225C= (p.Arg3409=) c.9109-828C= (n.9109-828C=) | dbSNP |