| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112486476G>T | CA386776886 | PTPN11 | c.1226G>T (p.Gly409Val) c.1112G>T (p.Gly371Val) c.1224+4271G>T (n.1224+4271G>T) n.435G>T c.1238G>T (p.Gly413Val) c.239G>T (p.Gly80Val) c.1124G>T (p.Gly375Val) c.1235G>T (p.Gly412Val) c.1223G>T (p.Gly408Val) | dbSNP |
| 12 | g.112486476G>A | CA386776883 | PTPN11 | c.1226G>A (p.Gly409Glu) c.1112G>A (p.Gly371Glu) c.1224+4271G>A (n.1224+4271G>A) n.435G>A c.1238G>A (p.Gly413Glu) c.239G>A (p.Gly80Glu) c.1124G>A (p.Gly375Glu) c.1235G>A (p.Gly412Glu) c.1223G>A (p.Gly408Glu) | dbSNP |
| 12 | g.112486476G>C | CA261531 | PTPN11 | c.1226G>C (p.Gly409Ala) c.1112G>C (p.Gly371Ala) c.1224+4271G>C (n.1224+4271G>C) n.435G>C c.1238G>C (p.Gly413Ala) c.239G>C (p.Gly80Ala) c.1124G>C (p.Gly375Ala) c.1235G>C (p.Gly412Ala) c.1223G>C (p.Gly408Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |