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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)