| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.113834946A>T | CA341704304 | AP4B1-AS1,PTPN22 | c.1858T>A (p.Trp620Arg) c.469-15292T>A (n.469-15292T>A) n.1899T>A c.1477T>A (p.Trp493Arg) c.1693T>A (p.Trp565Arg) c.*1136T>A (n.*1136T>A) c.1786T>A (p.Trp596Arg) n.414+19474A>T c.1780T>A (p.Trp594Arg) c.1414T>A (p.Trp472Arg) c.1513T>A (p.Trp505Arg) | dbSNP gnomAD v4 |
| 1 | g.113834946A>G | CA1014942 | AP4B1-AS1,PTPN22 | c.1858T>C (p.Trp620Arg) c.469-15292T>C (n.469-15292T>C) n.1899T>C c.1477T>C (p.Trp493Arg) c.1693T>C (p.Trp565Arg) c.*1136T>C (n.*1136T>C) c.1786T>C (p.Trp596Arg) n.414+19474A>G c.1780T>C (p.Trp594Arg) c.1414T>C (p.Trp472Arg) c.1513T>C (p.Trp505Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.113834946A= | CA119991 | AP4B1-AS1,PTPN22 | c.1858T= (p.Trp620=) c.469-15292T= (n.469-15292T=) n.1899T= c.1477T= (p.Trp493=) c.1693T= (p.Trp565=) c.*1136T= (n.*1136T=) c.1786T= (p.Trp596=) n.414+19474A= c.1780T= (p.Trp594=) c.1414T= (p.Trp472=) c.1513T= (p.Trp505=) | dbSNP |