| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67724556T>A | CA252090 | GPHN,RDH12 | c.152T>A (p.Ile51Asn) c.1313-10639T>A (n.1313-10639T>A) | ClinVar dbSNP |
| 14 | g.67724556T>C | CA390148132 | GPHN,RDH12 | c.152T>C (p.Ile51Thr) c.1313-10639T>C (n.1313-10639T>C) | ClinVar dbSNP |
| 14 | g.67724556T= | CA2144002376 | GPHN,RDH12 | c.152T= (p.Ile51=) c.1313-10639T= (n.1313-10639T=) | dbSNP |