Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| PTPN11 | chr12:112926270 | chr12:112488466 | c.1403C>T | p.T468M | Pathogenic |
| PTPN11 | chr12:112926884 | chr12:112489080 | c.1504T>C | p.Ser502Pro | Pathogenic |
| PTPN11 | chr12:112926885 | chr12:112489081 | c.1505C>T | p.S502L | Pathogenic |
| PTPN11 | chr12:112926887 | chr12:112489083 | c.1507G>A | p.G503R | Pathogenic |
| PTPN11 | chr12:112926888 | chr12:112489084 | c.1508G>C | p.G503A | Pathogenic |
| PTPN11 | chr12:112888163 | chr12:112450359 | c.179G>T | p.Gly60Val | Pathogenic |
| PTPN11 | chr12:112888166 | chr12:112450362 | c.182A>T | p.Asp61Val | Pathogenic |
| PTPN11 | chr12:112888189 | chr12:112450385 | c.205G>A | p.Glu69Lys | Pathogenic |
| PTPN11 | chr12:112888198 | chr12:112450394 | c.214G>A | p.A72T | Pathogenic |
| PTPN11 | chr12:112888199 | chr12:112450395 | c.215C>T | p.Ala72Val | Pathogenic |
| PTPN11 | chr12:112888202 | chr12:112450398 | c.218C>T | p.T73I | Pathogenic |
| PTPN11 | chr12:112888211 | chr12:112450407 | c.227A>G | p.E76G | Pathogenic |