| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31546445_31546448del | CA021962 | DSG2,DSG2-AS1 | c.3059_3062del (p.Glu1020AlafsTer18) n.1346-538_1346-535del c.2525_2528del (p.Glu842AlafsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31546447_31546448dup | CA913188920 | DSG2,DSG2-AS1 | c.3061_3062dup (p.Ser1021ArgfsTer19) n.1346-536_1346-535dup c.2527_2528dup (p.Ser843ArgfsTer19) | ClinVar dbSNP |
| 18 | g.31546447_31546448del | CA021967 | DSG2,DSG2-AS1 | c.3061_3062del (p.Ser1021LeufsTer16) n.1346-536_1346-535del c.2527_2528del (p.Ser843LeufsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |