| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31079850G>A | CA10581489 | DSC2 | c.1231C>T (p.Gln411Ter) c.1660C>T (p.Gln554Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31079850G= | CA2293650800 | DSC2 | c.1231C= (p.Gln411=) c.1660C= (p.Gln554=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31079850G>A | CA10581489 | DSC2 | c.1231C>T (p.Gln411Ter) c.1660C>T (p.Gln554Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31079850G= | CA2293650800 | DSC2 | c.1231C= (p.Gln411=) c.1660C= (p.Gln554=) | dbSNP |