| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13283713T>G | CA118905 | PHYH | c.805A>C (p.Asn269His) c.505A>C (p.Asn169His) c.754A>C (p.Asn252His) c.586A>C (p.Asn196His) c.811A>C (p.Asn271His) c.541A>C (p.Asn181His) c.511A>C (p.Asn171His) | ClinVar dbSNP gnomAD v4 |
| 10 | g.13283713T= | CA1891546420 | PHYH | c.805A= (p.Asn269=) c.505A= (p.Asn169=) c.754A= (p.Asn252=) c.586A= (p.Asn196=) c.811A= (p.Asn271=) c.541A= (p.Asn181=) c.511A= (p.Asn171=) | dbSNP |