| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.23536610G>C | CA357926 | SOX5 | c.583C>G (p.Arg195Gly) c.*500C>G (n.*500C>G) c.*480C>G (n.*480C>G) c.1687C>G (p.Arg563Gly) c.1831C>G (p.Arg611Gly) c.1468C>G (p.Arg490Gly) c.*162C>G (n.*162C>G) c.673C>G (p.Arg225Gly) c.1726C>G (p.Arg576Gly) c.1801C>G (p.Arg601Gly) c.1792C>G (p.Arg598Gly) c.1834C>G (p.Arg612Gly) c.1804C>G (p.Arg602Gly) c.1795C>G (p.Arg599Gly) c.1729C>G (p.Arg577Gly) c.997C>G (p.Arg333Gly) c.787C>G (p.Arg263Gly) c.1921C>G (p.Arg641Gly) c.1918C>G (p.Arg640Gly) c.1690C>G (p.Arg564Gly) | ClinVar dbSNP |
| 12 | g.23536610G= | CA2022092580 | SOX5 | c.583C= (p.Arg195=) c.*500C= (n.*500C=) c.*480C= (n.*480C=) c.1687C= (p.Arg563=) c.1831C= (p.Arg611=) c.1468C= (p.Arg490=) c.*162C= (n.*162C=) c.673C= (p.Arg225=) c.1726C= (p.Arg576=) c.1801C= (p.Arg601=) c.1792C= (p.Arg598=) c.1834C= (p.Arg612=) c.1804C= (p.Arg602=) c.1795C= (p.Arg599=) c.1729C= (p.Arg577=) c.997C= (p.Arg333=) c.787C= (p.Arg263=) c.1921C= (p.Arg641=) c.1918C= (p.Arg640=) c.1690C= (p.Arg564=) | dbSNP |