| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31531044G>A | CA021268 | DSG2 | n.903G>A c.903G>A c.1072G>A (p.Ala358Thr) c.538G>A (p.Ala180Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31531044G>C | CA402138300 | DSG2 | n.903G>C c.903G>C c.1072G>C (p.Ala358Pro) c.538G>C (p.Ala180Pro) | ClinVar dbSNP |
| 18 | g.31531044G= | CA2293859756 | DSG2 | n.903G= c.903G= c.1072G= (p.Ala358=) c.538G= (p.Ala180=) | dbSNP |