| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67724588C>T | CA252081 | GPHN,RDH12 | c.184C>T (p.Arg62Ter) c.1313-10607C>T (n.1313-10607C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67724588C= | CA2144002388 | GPHN,RDH12 | c.184C= (p.Arg62=) c.1313-10607C= (n.1313-10607C=) | dbSNP |
| 14 | g.67724588C>A | CA486768213 | GPHN,RDH12 | c.184C>A (p.Arg62=) c.1313-10607C>A (n.1313-10607C>A) | ClinVar dbSNP |