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PHD

c.10606delC. c.10841C>G. c.11066_11078delCTGGATCCCTGGC. c.400+1G>A. c.6295C>T. c.11119C>T(2X). c.6595delT(2X) ). c.11269C>T. c.401-3A>G. c.16469_16470delAA. c.11434C>T. c.1035_1036delCT. c.6638_6641delGCGC. c.472delT. c.1345_1346delCT. c.11819_11836dupTTCAACAACAGCAGCAGC. c.4419G>A.

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PHD

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  1. c.10606delC c.10841C>G c.11066_11078delCTGGATCCCTGGC c.400+1G>A c.6295C>T c.11119C>T(2X) c.6595delT(2X) ) c.11269C>T c.401-3A>G c.16469_16470delAA c.11434C>T c.1035_1036delCT c.6638_6641delGCGC c.472delT c.1345_1346delCT c.11819_11836dupTTCAACAACAGCAGCAGC c.4419G>A c.10135C>T c.16489_16491delATC c.7246C>T c.12076C>T c.1921G>T c.12274C>T c.4895delC c.5779delC c.15079C>T(2X) c.669T>G c.2993_2994insC c.13129_13130insT c.7903C>T c.15163_15168dupGACCTG c.13666A>T c.8273delG c.705delA c.13999+5G>A 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 39 CC LXXLL NH2 COOH post-SET HMG-box FYRN FYRC SET PHD PHD PHD PHD PHD PHD PHD Ex11 c.3773G>A p.Arg1258Gln Ex15 c.[4249A>G; 4252C>A] p.[Met1417Val; Leu1418Met] Ex34 c.8521C>A p.Pro2841Thr Ex48 c.15084C>G p.Asp5028Glu Ex50 c.16019G>A p.Arg5340Gln Ex16 c.4565A>G p.Gln1522Arg Ex48 c.15100T>G p.Phe5034Val Ex48 c.15176A>C p.His5059Pro * * ** * * * * * H. sapiens P.troglodytes M.musculus C.familiaris B.taurus X.tropicalis D.rerio

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