| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.196238806dup | CA2779361 | PCYT1A,SLC51A | c.990dup (p.Ser331LeufsTer30) c.58-3688dup (n.58-3688dup) c.486+8565dup (n.486+8565dup) n.551dup n.418-1815dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.196238806del | CA214466 | PCYT1A,SLC51A | c.990del (p.Ser331ProfsTer?) c.58-3688del (n.58-3688del) c.486+8565del (n.486+8565del) n.551del n.418-1815del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |