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Variant Information

Gene 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