| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.113852067C>T | CA1015195 | AP4B1-AS1,PTPN22 | c.788G>A (p.Arg263Gln) c.468+4315G>A (n.468+4315G>A) n.829G>A c.407G>A (p.Arg136Gln) c.750+2404G>A (n.750+2404G>A) c.*66G>A (n.*66G>A) c.716G>A (p.Arg239Gln) n.414+36595C>T c.344G>A (p.Arg115Gln) c.443G>A (p.Arg148Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.113852067C= | CA1140496634 | AP4B1-AS1,PTPN22 | c.788G= (p.Arg263=) c.468+4315G= (n.468+4315G=) n.829G= c.407G= (p.Arg136=) c.750+2404G= (n.750+2404G=) c.*66G= (n.*66G=) c.716G= (p.Arg239=) n.414+36595C= c.344G= (p.Arg115=) c.443G= (p.Arg148=) | dbSNP |