From: Proceedings of the 25th European Paediatric Rheumatology Congress (PReS 2018)
MEFV | MVK | NOD2 | TNFRSF1A | NLRP12 | LPIN2 | PLCG2 | IL10RA | IL10RB |
p.Glu148Gln ‡‡ p.Pro369Ser p.Ser339Phe | p.Thr356Met* | p.Met950Leu** p.Met513Thr†p.Arg791Gln †| p.Asn145Ser p.Arg568His p.Arg121Gln‡ | p.Thr861Ser*** | p.Cys874Phe p.Pro149Leu p.Pro626Ser p.Lys387Glu p.Glu601Lys p.Glu601Lys | p.Asn798Ser p.Ala313Gly p.Pro522Arg p.Ala420Thr | p.Glu58Lys P.Arg412Trp††| p.Val148Met |
AP1S3 | CARD14 | CECR1 | NLRP7 | RBCK1 | SH3BP2 | SLC29A3 | TMEM173 | Â |
p.Phe4Cys | p.Met931Lys p.Ser200Asn p.Arg826Tr | p.Met267Ile | p.Arg156Gln Cys399Tyr | p.Gly242Val p.Pro347Arg | p.Ala212Val p.Arg534Trp | p.Arg83His p.Glu331Lys | p.Ala313Thr p.Gly192Val | Â |