| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67726996C>T | CA252092 | GPHN,RDH12 | c.464C>T (p.Thr155Ile) c.1313-8199C>T (n.1313-8199C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67726996C= | CA2144003412 | GPHN,RDH12 | c.464C= (p.Thr155=) c.1313-8199C= (n.1313-8199C=) | dbSNP |
| 14 | g.67726996C>A | CA390150561 | GPHN,RDH12 | c.464C>A (p.Thr155Asn) c.1313-8199C>A (n.1313-8199C>A) | dbSNP gnomAD v4 |