| 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 |
| 18 | g.31406370A= | CA2293803338 | DSG1-AS1,DSG4 | c.1930A= (p.Ile644=) n.156+20463T= c.532A= (p.Ile178=) | dbSNP dbSNP |