| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27926194T>A | CA277382 | OCA2 | c.2012A>T (p.Glu671Val) c.1940A>T (p.Glu647Val) c.2036A>T (p.Glu679Val) c.1964A>T (p.Glu655Val) c.1898A>T (p.Glu633Val) c.1841A>T (p.Glu614Val) | ClinVar dbSNP |
| 15 | g.27926194T>C | CA391361195 | OCA2 | c.2012A>G (p.Glu671Gly) c.1940A>G (p.Glu647Gly) c.2036A>G (p.Glu679Gly) c.1964A>G (p.Glu655Gly) c.1898A>G (p.Glu633Gly) c.1841A>G (p.Glu614Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926194T>G | CA391361198 | OCA2 | c.2012A>C (p.Glu671Ala) c.1940A>C (p.Glu647Ala) c.2036A>C (p.Glu679Ala) c.1964A>C (p.Glu655Ala) c.1898A>C (p.Glu633Ala) c.1841A>C (p.Glu614Ala) | dbSNP gnomAD v4 |
| 15 | g.27926194T= | CA2166365082 | OCA2 | c.2012A= (p.Glu671=) c.1940A= (p.Glu647=) c.2036A= (p.Glu679=) c.1964A= (p.Glu655=) c.1898A= (p.Glu633=) c.1841A= (p.Glu614=) | dbSNP |