Table 2 Summary of somatic mutations identified in pediatric patients with vascular malformation
From: Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
Gene | Mutation | Oncogenic activity a | COSMIC b | gnomAD c | Present study d | Hotspot |
|---|---|---|---|---|---|---|
PIK3CA (NM_006218) | c.328_330delGAA;p.E110del | Unknown | 41 | 0 | 1 | No |
|  | c.344G > C;p.R115P | Unknown | 6 | 0 | 1 | No |
|  | c.1049A > G;p.D350G | Unknown | 10 | 0 | 1 | No |
|  | c.1133G > A;p.C378Y | Unknown | 5 | 0 | 1 | No |
|  | c.1258 T > C;p.C420R | Strong | 216 | 0 | 1 | No |
|  | c.1357G > A;p.E453K | Intermediate | 88 | 0 | 3 | No |
|  | c.1624G > A;p.E542K | Strong | 1887 | 0 | 7 | Yes |
|  | c.1633G > A;p.E545K | Strong | 3064 | 1 | 4 | Yes |
|  | c.2176G > A;p.E726K | Unknown | 160 | 0 | 1 | No |
|  | c.2740G > A;p.G914R | Unknown | 6 | 0 | 1 | No |
|  | c.3073A > G;p.T1025A | Unknown | 54 | 0 | 1 | No |
|  | c.3139C > T;p.H1047Y | Intermediate | 117 | 0 | 1 | No |
|  | c.3140A > G;p.H1047R | Strong | 3786 | 1 | 5 | Yes |
|  | c.3140A > T;p.H1047L | Strong | 565 | 1 | 1 | Yes |
AKT1 (NM_005163) | c.235C > A;p.Q79K | – | 22 | 0 | 1 | No |
GNA11 (NM_002067) | c.547C > T;p.R183C | – | 24 | 0 | 2 | Yes |
GNAQ (NM_002072) | c.547C > G;p.R183G | – | 4 | 0 | 1 | No |
|  | c.548G > A;p.R183Q | – | 50 | 0 | 12 | Yes |
TEK (NM_000459) | c.2740C > T;p.L914F | – | 0 | 0 | 5 | Yes |
MAP3K3 (NM_002401) | c.1161A > C;p.E387D | – | 0 | 0 | 1 | No |
|  | c.1323C > G;p.p.I441M | – | 0 | 0 | 2 | Yes |