| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27983421T>C | CA276958 | OCA2 | c.1427A>G (p.Asn476Ser) c.1355A>G (p.Asn452Ser) c.1451A>G (p.Asn484Ser) c.1379A>G (p.Asn460Ser) c.1313A>G (p.Asn438Ser) n.2812A>G c.1256A>G (p.Asn419Ser) n.1540A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.27983421T= | CA2166409986 | OCA2 | c.1427A= (p.Asn476=) c.1355A= (p.Asn452=) c.1451A= (p.Asn484=) c.1379A= (p.Asn460=) c.1313A= (p.Asn438=) n.2812A= c.1256A= (p.Asn419=) n.1540A= | dbSNP |