Lymphatic Malformation Variant Atlas
Pathway
Subset

GeneVariantPathwayISSVA subsets
ARAF S214P c.640T>C RAS-MAPK
CCLA
BRAF V600E c.1799T>A RAS-MAPK
LMGLAKLACCLA
CBL Y774* c.2322T>G RAS-MAPK
KLA
HRAS A59_Q61delinsGGSIL c.176_182delinsGAGGATCCATACT RAS-MAPK
KLA
HRAS E63_S65delinsDIPP c.189_195delinsCATCCCGCCG RAS-MAPK
KLA
HRAS M72_R73insHSAMRDQYM c.191_217dup RAS-MAPK
GLACCLA
KRAS A146T c.436G>A RAS-MAPK
CCLA
KRAS G12D c.35G>A RAS-MAPK
CCLAKLA
KRAS G12V c.35G>T RAS-MAPK
GSDCCLA
KRAS G13D c.38G>A RAS-MAPK
CCLA
KRAS Q61R c.182A>G RAS-MAPK
GSD
KRAS Q70_Y71ins15 c.167_211dup RAS-MAPK
GLA
MAP2K1 F53C c.158T>G RAS-MAPK
CCLA
NRAS Q61K c.181C>A RAS-MAPK
KLA
NRAS Q61R c.182A>G RAS-MAPK
KLAGLA
PIK3CA C420R c.1258T>C PI3K-AKT
LM
PIK3CA E109del c.325_327delGAA PI3K-AKT
LM
PIK3CA E110del c.328_330del PI3K-AKT
LM
PIK3CA E542K c.1624G>A PI3K-AKT
LMGLA
PIK3CA E545A c.1634A>C PI3K-AKT
LM
PIK3CA E545G c.1634A>G PI3K-AKT
LM
PIK3CA E545K c.1633G>A PI3K-AKT
LMKLA
PIK3CA H1047L c.3140A>T PI3K-AKT
LMGLACCLA
PIK3CA H1047R c.3140A>G PI3K-AKT
LMGLAKLACCLA
PIK3CA M1043I c.3129G>A PI3K-AKT
CCLA
PIK3CA N345K c.1035T>A PI3K-AKT
LM
PIK3CA Q546K c.1636C>A PI3K-AKT
LMGLA
PIK3CA Q546R c.1637A>G PI3K-AKT
LM
PIK3CA R88Q c.263G>A PI3K-AKT
LMGLA
PIK3CD L666P c.1997T>C PI3K-AKT
LM