| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152308777G>A | CA1105412 | FLG | c.6109C>T (p.Arg2037Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308777G>C | CA342057682 | FLG | c.6109C>G (p.Arg2037Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308777G= | CA1143388702 | FLG | c.6109C= (p.Arg2037=) | dbSNP |
| 1 | g.152308777G>T | CA420928858 | FLG | c.6109C>A (p.Arg2037=) | dbSNP gnomAD v4 COSMIC |