| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.10361817G>C | CA404002353 | TYK2 | c.*261C>G (n.*261C>G) c.1912C>G (p.Arg638Gly) n.2243C>G n.2326C>G c.*1463C>G (n.*1463C>G) c.1793C>G (p.Thr598Arg) c.1357C>G (p.Arg453Gly) n.245C>G c.89C>G c.1615C>G (p.Arg539Gly) c.586C>G (p.Arg196Gly) c.169C>G (p.Arg57Gly) n.2069C>G n.1950C>G c.1774-219C>G (n.1774-219C>G) c.1714C>G (p.Arg572Gly) c.1828C>G (p.Arg610Gly) c.1822C>G (p.Arg608Gly) c.1786C>G (p.Arg596Gly) c.1894C>G (p.Arg632Gly) | dbSNP gnomAD v2 |
| 19 | g.10361817G>A | CA354999 | TYK2 | c.*261C>T (n.*261C>T) c.1912C>T (p.Arg638Ter) n.2243C>T n.2326C>T c.*1463C>T (n.*1463C>T) c.1793C>T (p.Thr598Met) c.1357C>T (p.Arg453Ter) n.245C>T c.89C>T c.1615C>T (p.Arg539Ter) c.586C>T (p.Arg196Ter) c.169C>T (p.Arg57Ter) n.2069C>T n.1950C>T c.1774-219C>T (n.1774-219C>T) c.1714C>T (p.Arg572Ter) c.1828C>T (p.Arg610Ter) c.1822C>T (p.Arg608Ter) c.1786C>T (p.Arg596Ter) c.1894C>T (p.Arg632Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10361817G= | CA2322391714 | TYK2 | c.*261C= (n.*261C=) c.1912C= (p.Arg638=) n.2243C= n.2326C= c.*1463C= (n.*1463C=) c.1793C= (p.Thr598=) c.1357C= (p.Arg453=) n.245C= c.89C= c.1615C= (p.Arg539=) c.586C= (p.Arg196=) c.169C= (p.Arg57=) n.2069C= n.1950C= c.1774-219C= (n.1774-219C=) c.1714C= (p.Arg572=) c.1828C= (p.Arg610=) c.1822C= (p.Arg608=) c.1786C= (p.Arg596=) c.1894C= (p.Arg632=) | dbSNP |