| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.75985688C>T | CA4304165 | POR | c.1283C>T (p.Ala428Val) c.1409C>T (p.Ala470Val) c.1508C>T (p.Ala503Val) c.*109-372C>T (n.*109-372C>T) c.722C>T (p.Ala241Val) c.1659C>T c.*813C>T (n.*813C>T) n.119C>T n.882C>T c.1562C>T (p.Ala521Val) c.1358C>T (p.Ala453Val) c.1499C>T (p.Ala500Val) c.1553C>T (p.Ala518Val) c.1349C>T (p.Ala450Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75985688C= | CA1718180271 | POR | c.1283C= (p.Ala428=) c.1409C= (p.Ala470=) c.1508C= (p.Ala503=) c.*109-372C= (n.*109-372C=) c.722C= (p.Ala241=) c.1659C= c.*813C= (n.*813C=) n.119C= n.882C= c.1562C= (p.Ala521=) c.1358C= (p.Ala453=) c.1499C= (p.Ala500=) c.1553C= (p.Ala518=) c.1349C= (p.Ala450=) | dbSNP |