| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67725206C>A | CA252088 | GPHN,RDH12 | c.295C>A (p.Leu99Ile) c.1313-9989C>A (n.1313-9989C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67725206C= | CA2144002675 | GPHN,RDH12 | c.295C= (p.Leu99=) c.1313-9989C= (n.1313-9989C=) | dbSNP |
| 14 | g.67725206C>T | CA486768433 | GPHN,RDH12 | c.295C>T (p.Leu99=) c.1313-9989C>T (n.1313-9989C>T) | ClinVar dbSNP gnomAD v4 |