Case Reports in Pathology / 2021 / Article / Tab 3 / Case Series
Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Clinicopathologic Analysis with Evaluation of the E-Cadherin/β -Catenin Complex and Associated Genetic Alterations Table 3 Summary of somatic mutations of cases 2 and 4.
Gene Standardized Nomenclature (HGVS) Location DNA change Protein change dbSNP ID Cosmic ID Case 2 PIK3CA NM_006218.2(PIK3CA):c.1633G>Ap.E545K Exon 10 SNV Missense rs104886003COSM763 PIK3CA NM_006218.2(PIK3CA):c.3132T>Ap.N1044K Exon 21 SNV Missense COSM12592 CDH1 NM_004360.3(CHD1):C.1991_1992InsTAp.K664fs Exon 13 Insertion Frameshift Case 4 PIK3CA NM_006218.2(PIK3CA):c.3140A>G p.H1047R Exon 21 SNV Missense rs121913279 COSM775 TP53 NM_000546.5(TP53):c.775G>T p.D259Y Exon 7 SNV Missense COSM11552
