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. Author manuscript; available in PMC: 2016 Jun 22.
Published in final edited form as: Nat Genet. 2015 Jul 27;47(9):996–1002. doi: 10.1038/ng.3361

Table 3.

Co-mutations in RASopathy genes in NF1-mutant, BRAF-RAS–wild-type melanomas in the Yale cohort

Sample NF1 mutations RASopathy gene mutations
YUBER p.Arg262Cys, p.Trp784* SOS1 G434R
YUCAS p.Ile679AspfsX21 –
YUDAB p.Phe1464Leu PTPN11 Q506P
YUFIGUR p.Tyr628LeufsX6, p.Gln2234* –
YUHEF p.Lys2552ThrfsX2, p.Gln853* SOS1G434V,R398H,P102S,
  RAF1P261L
YUKAT p.Trp9*, p.Gln2239* SOS1 R1067G
YUKAY p.Arg1534* –
YUKLAB p.Ser2025Leu, p.Arg1204Trp,
  p.Arg416*		 PTPN11P491L,Q510L,D425N,
  RASA2P530L
YULAN NF1: c.6819+1G>A, p.Pro1084Ser –
YUMUJ p.Lys1632MetfsX8 PTPN11 A461T
YUNEKI p.Gln803* –
YUOMEGA p.Asn793LysfsX14, p.Leu844Phe SPRED1 R117Q
YUOTHO p.Gln1010*, pGln2239* RASA2 S400F
YUPADI p.Ser2093Phe, p.Arg1362* SPRED1 Q353*
YUPAER p.Gln912* –
YUPAT p.Leu844Phe –
YUPROST p.Arg440* RASA2 R310*
YURAY p.Arg2450* –
YUROG p.Gln1218* –
YUROO p.Gln282*, p.Arg440* p.Leu2661* RASA2 F585I
YURUS p.Gln2434* RASA2R511C,P843S,
  SPRED1Q205*
YUSOC p.Glu337Lys, pTrp336* RASA2R511C,Q500*, RAF1T491I
YUTAR p.Val2653SerfsX26 RASA2 R511C
YUTOGS p.Leu466Phe, p.Lys2535* –
YUWAND p.Phe694_Trp696del PTN11Y279C, SOS1R552K
YUZAN p.Met108Ile –

Mutations in RASA2 (pArg511Cys), PTPN11 (p.Tyr279Cys, p.Ala461Thr, p.Pro491Leu, p.Gln506Pro), SOS1 (p.Gly434Arg, p.Arg552Lys) and RAF1 (p.Pro261Leu, p.Thr491Ile) have been previously shown to be disease causing in RASopathy syndromes (see text for details).