| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.82824392A>C | CA4318797 | PCLO | c.14440T>G (p.Ser4814Ala) n.935T>G c.703T>G (p.Ser235Ala) c.7345T>G (p.Ser2449Ala) c.7318T>G (p.Ser2440Ala) n.16009T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.82824392A= | CA1721404387 | PCLO | c.14440T= (p.Ser4814=) n.935T= c.703T= (p.Ser235=) c.7345T= (p.Ser2449=) c.7318T= (p.Ser2440=) n.16009T= | dbSNP |