| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67727055T>C | CA252089 | GPHN,RDH12 | c.523T>C (p.Ser175Pro) c.1313-8140T>C (n.1313-8140T>C) | ClinVar dbSNP |
| 14 | g.67727055T= | CA2144003439 | GPHN,RDH12 | c.523T= (p.Ser175=) c.1313-8140T= (n.1313-8140T=) | dbSNP |
| 14 | g.67727055T>G | CA390150895 | GPHN,RDH12 | c.523T>G (p.Ser175Ala) c.1313-8140T>G (n.1313-8140T>G) | ClinVar dbSNP gnomAD v4 |