. 2021 May 8;16:208. doi: 10.1186/s13023-021-01782-9

Table 2.

Two variants were identified in children with LMs

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)

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

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

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)