| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.10354167G>A | CA9192922 | TYK2 | c.*1132C>T (n.*1132C>T) c.2783C>T (p.Ala928Val) n.4159C>T n.3197C>T c.*2334C>T (n.*2334C>T) c.*825C>T (n.*825C>T) n.4242C>T n.885C>T c.*1888C>T (n.*1888C>T) c.2228C>T (p.Ala743Val) c.79C>T n.455C>T c.212C>T (p.Ala71Val) c.2486C>T (p.Ala829Val) c.1457C>T (p.Ala486Val) c.1040C>T (p.Ala347Val) n.2940C>T n.3866C>T c.2597C>T (p.Ala866Val) c.2780C>T (p.Ala927Val) c.2585C>T (p.Ala862Val) c.2699C>T (p.Ala900Val) c.2864C>T (p.Ala955Val) c.2993C>T (p.Ala998Val) c.2693C>T (p.Ala898Val) c.2657C>T (p.Ala886Val) c.2765C>T (p.Ala922Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10354167G= | CA2322388035 | TYK2 | c.*1132C= (n.*1132C=) c.2783C= (p.Ala928=) n.4159C= n.3197C= c.*2334C= (n.*2334C=) c.*825C= (n.*825C=) n.4242C= n.885C= c.*1888C= (n.*1888C=) c.2228C= (p.Ala743=) c.79C= n.455C= c.212C= (p.Ala71=) c.2486C= (p.Ala829=) c.1457C= (p.Ala486=) c.1040C= (p.Ala347=) n.2940C= n.3866C= c.2597C= (p.Ala866=) c.2780C= (p.Ala927=) c.2585C= (p.Ala862=) c.2699C= (p.Ala900=) c.2864C= (p.Ala955=) c.2993C= (p.Ala998=) c.2693C= (p.Ala898=) c.2657C= (p.Ala886=) c.2765C= (p.Ala922=) | dbSNP |