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. 2016 Jul 28;99(2):443–450. doi: 10.1016/j.ajhg.2016.06.010

Table 1.

Somatic GNA14 and GNA11 Mutations Cause Vascular Tumors

Sample Age (Years) Sex Site Diagnosis Somatic Mutation No. of Reads in Tissue
No. of Reads in Blood
p Value
Ref. Non-ref. Ref. Non-ref.
V101 0 male neck KHE GNA14 c.614A>T (p.Gln205Leu) 81 8 96 0 2.4 × 10−3
V102 0 male abdomen TA GNA14 c.614A>T (p.Gln205Leu) NAa NAa NAa NAa NA
V103 2 male cheek LCH GNA14 c.614A>T (p.Gln205Leu) NAa NAa NAa NAa NA
V104 12 male scalp LCH GNA11 c.547C>T (p.Arg183Cys) 55 16 NAb NAb NA
V105 2 male cheek LCH GNA11 c.547C>T (p.Arg183Cys) NAa NAa NAa NAa NA

Abbreviations are as follows: KHE, kaposiform hemangioendothelioma; LCH, lobular capillary hemangioma; NA, not applicable; non-ref., non-reference; ref., reference; and TA, tufted angioma.

a

Mutation identified by Sanger sequencing.

b

Exome sequencing performed on tumor only.