| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152315409C>G | CA30570929 | FLG | c.48G>C (p.Lys16Asn) n.914+452C>G | dbSNP |
| 1 | g.152315409C= | CA1139938669 | FLG | c.48G= (p.Lys16=) n.914+452C= | dbSNP |
| 1 | g.152315409C>T | CA420782795 | FLG | c.48G>A (p.Lys16=) n.914+452C>T | dbSNP gnomAD v4 |