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Table 2 Two variants were identified in children with LMs

From: A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation

Patient Gene RefSeq Chromo-some Nucleotide Amino acid Mutation Taster SIFT (cutoff = 0.05) Provean (cutoff = −2.5) Polyphen-2 Reference/alteration (frequency)
740368 PIK3CA NM_006218 chr3:178,936,091 c.G1633A p.E545K Disease causing (1.000) Damaging (0.002) Deleterious
(-3.28)
Probably damaging
(0.991)
WES: 62/4 (0.06)
ddPCR: 275/6 (0.02)
739889 PIK3CD NM_005026 chr1:9,781,860 c.T1997C p.L666P Disease causing (1.000) Damaging (0.001) Deleterious
(-6.33)
Probably damaging
(1.000)
WES: 284/5 (0.02)
ddPCR: 69/2 (0.03)