| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67726983C>A | CA252085 | GPHN,RDH12 | c.451C>A (p.His151Asn) c.1313-8212C>A (n.1313-8212C>A) | ClinVar dbSNP |
| 14 | g.67726983C>G | CA252087 | GPHN,RDH12 | c.451C>G (p.His151Asp) c.1313-8212C>G (n.1313-8212C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67726983C= | CA2144003405 | GPHN,RDH12 | c.451C= (p.His151=) c.1313-8212C= (n.1313-8212C=) | dbSNP |