Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31524749G>A | CA022326 | DSG2 | n.706G>A c.706G>A c.875G>A (p.Arg292His) c.341G>A (p.Arg114His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524749G>T | CA022332 | DSG2 | n.706G>T c.706G>T c.875G>T (p.Arg292Leu) c.341G>T (p.Arg114Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |