| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27951891T>C | CA7438873 | OCA2 | c.1844A>G (p.His615Arg) c.1772A>G (p.His591Arg) c.1868A>G (p.His623Arg) c.1796A>G (p.His599Arg) c.1730A>G (p.His577Arg) c.1869A>G (p.Ala623=) c.1673A>G (p.His558Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27951891T>A | CA7438874 | OCA2 | c.1844A>T (p.His615Leu) c.1772A>T (p.His591Leu) c.1868A>T (p.His623Leu) c.1796A>T (p.His599Leu) c.1730A>T (p.His577Leu) c.1869A>T (p.Ala623=) c.1673A>T (p.His558Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27951891T= | CA2166396559 | OCA2 | c.1844A= (p.His615=) c.1772A= (p.His591=) c.1868A= (p.His623=) c.1796A= (p.His599=) c.1730A= (p.His577=) c.1869A= (p.Ala623=) c.1673A= (p.His558=) | dbSNP |
| 15 | g.27951891T>G | CA391364794 | OCA2 | c.1844A>C (p.His615Pro) c.1772A>C (p.His591Pro) c.1868A>C (p.His623Pro) c.1796A>C (p.His599Pro) c.1730A>C (p.His577Pro) c.1869A>C (p.Ala623=) c.1673A>C (p.His558Pro) | dbSNP |