Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31406370A>C | CA8927121 | DSG1-AS1,DSG4 | c.1930A>C (p.Ile644Leu) n.156+20463T>G c.532A>C (p.Ile178Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31406370A>T | CA402143300 | DSG1-AS1,DSG4 | c.1930A>T (p.Ile644Phe) n.156+20463T>A c.532A>T (p.Ile178Phe) | dbSNP gnomAD v3 gnomAD v4 |