| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.196238824dup | CA214470 | PCYT1A,SLC51A | c.968dup (p.Ser323ArgfsTer?) c.58-3670dup (n.58-3670dup) c.486+8543dup (n.486+8543dup) n.529dup n.418-1797dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.196238824C= | CA3099563230 | PCYT1A,SLC51A | c.968G= (p.Ser323=) c.58-3670C= (n.58-3670C=) c.486+8543G= (n.486+8543G=) n.529G= n.418-1797C= | dbSNP dbSNP |