feature type start end label R G B shape direction protein Name=SHCBP1L {ECO:0000312|HGNC:HGNC:16788}; Synonyms=C1orf14; 1 653 Name=SHCBP1L {ECO:0000312|HGNC:HGNC:16788}; Synonyms=C1orf14; 0.7 0.9 0.9 - - mutation Missense_Mutation 639 639 p.K639T 1.0 1.0 0.0 circle up mutation Missense_Mutation 633 633 p.L633M 1.0 1.0 0.0 circle up mutation Missense_Mutation 593 593 p.S593N 1.0 1.0 0.0 circle up mutation Missense_Mutation 545 545 p.R545I 1.0 1.0 0.0 circle up mutation Missense_Mutation 498 498 p.L498I 1.0 1.0 0.0 circle up mutation Missense_Mutation 440 440 p.D440Y 1.0 1.0 0.0 circle up mutation Splice_Site 359 359 p.X359_splice 0.6 0.0 0.6 inv_triangle up mutation Missense_Mutation 273 273 p.C273F 1.0 1.0 0.0 circle up mutation Frame_Shift_Del 260 260 p.Y260Mfs*84 1.0 0.0 0.0 square up mutation Silent 222 222 p.E222E 0.8 0.8 0.8 circle up mutation Missense_Mutation 107 107 p.P107T 1.0 1.0 0.0 circle up mutation Frame_Shift_Del 62 62 p.G62Afs*53 1.0 0.0 0.0 square up