| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31524754A>C | CA402135541 | DSG2 | n.711A>C c.711A>C c.880A>C (p.Lys294Gln) c.346A>C (p.Lys116Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31524754A>G | CA022347 | DSG2 | n.711A>G c.711A>G c.880A>G (p.Lys294Glu) c.346A>G (p.Lys116Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |