| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.196242085A>G | CA214469 | PCYT1A,SLC51A | c.571T>C (p.Phe191Leu) c.58-409A>G (n.58-409A>G) c.373T>C (p.Phe125Leu) c.190T>C (p.Phe64Leu) c.486+5282T>C (n.486+5282T>C) n.1412T>C | ClinVar dbSNP |
| 3 | g.196242085A= | CA1431558315 | PCYT1A,SLC51A | c.571T= (p.Phe191=) c.58-409A= (n.58-409A=) c.373T= (p.Phe125=) c.190T= (p.Phe64=) c.486+5282T= (n.486+5282T=) n.1412T= | dbSNP |