| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.8305041_8305043del | CA312377 | CD320,ELAVL1 | c.262_264del (p.Glu88del) c.-87-43033_-87-43031del (n.-87-43033_-87-43031del) c.143-949_143-947del (n.143-949_143-947del) c.*665_*667del (n.*665_*667del) n.307_309del c.243_245del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.8305041_8305043dup | CA2321352938 | CD320,ELAVL1 | c.262_264dup (p.Glu88_Cys89insGlu) c.-87-43033_-87-43031dup (n.-87-43033_-87-43031dup) c.143-949_143-947dup (n.143-949_143-947dup) c.*665_*667dup (n.*665_*667dup) n.307_309dup c.243_245dup | ClinVar dbSNP |