Clinical and genetic analyses of patients with lateralized overgrowth

BMC Medical Genomics

Table 2 Genetic characteristics of identified mutations in patients

Patient	Mutated gene	DNA sequence	Amino acid change	VAF (tissue)	VAF (blood)	Depth (X) (tissue)	Depth (X) (blood)	COSMIC ID	Biopsy site and lesion
1	PIK3CA	c.1636C > A	p.Gln546Lys	0.048	0	513	594	COSM766	Right thigh, cutaneous capillary malformation
2	PIK3CA	c.2740G > A	p.Gly914Arg	0.182	0	765	326	COSM3205660	Left arm, cutaneous capillary malformation
3	PIK3CA	c.1345C > A	p.Pro449Thr	0.131	0	721	323	COSM18601	Left arm, cutaneous capillary malformation
4	PIK3CA	c.1633G > A	p.Glu545Lys	0.023	0	633	352	COSM763	Left leg, cutaneous capillary malformation
5	PIK3CA	c.1357G > A	p.Glu453Lys	0.127	0	1554	398	COSM12584	Left leg, cutaneous capillary malformation
6	PIK3CA	c.3073A > G	p.Thr1025Ala	0.081	0	1149	314	COSM771	Neck, hemangioma
7	PIK3CA	c.2908G > A	p.Glu970Lys	0.023	0.036	890	239	COSM94980	Lower leg, cutaneous capillary malformation
8	KRAS	c.35G > A	p.Gly12Asp	0.041	0	1080	212	COSM521	Right lower leg, skin of overgrowth lesion
9	KRAS	c.35G > A	p.Gly12Asp	0.058	0	571	391	COSM521	Right lower leg, skin of overgrowth lesion
10	PTEN	c.755A > T	p.Asp252Val	0.712	0.481	880	281	COSM3368151	Abdomen skin, epidermal nevus
11	MAP2K3	c.696 + 1G > A	p.(?)	0.042	0.088	796	341	COSM560209	Left inguinal area, skin of overgrowth lesion
12	GNAQ	c.548G > A	p.Arg183Gln	0.039	0	1038	248	COSM52975	Right flank area, nevus flammeus
13	TBC1D4	c.667G > A	p.Asp223Asn	0.026	0	952	273	COSM6797461	Right lower leg, skin of overgrowth lesion
14	TEK	c.3324_3334del	p.Glu1109Leufs Ter5	0.046	0	544	567	–	Left buttock, skin of overgrowth lesion
15	Not found		–	–	–	1074	322	–	Abdomen, cutaneous capillary malformation

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