| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31536259A>T | CA402141398 | DSG2 | c.1481A>T (p.Asp494Val) c.947A>T (p.Asp316Val) | dbSNP |
| 18 | g.31536259A>C | CA021409 | DSG2 | c.1481A>C (p.Asp494Ala) c.947A>C (p.Asp316Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31536259A= | CA2293861943 | DSG2 | c.1481A= (p.Asp494=) c.947A= (p.Asp316=) | dbSNP |