*7No functionrs50308672935A>C2936A>Cg.7955A>Cg.42127856T>Gc.971A>Cp.His324ProYes0-0.6%*8No functionrs5030865, rs16947, rs11358401758G>T, 2850C>T, 4180G>C1759G>T, 2851C>T, 4181G>Cg.6778G>T, g.7870C>T, g.9200G>Cg.42129033C>A, g.42127941G>A, g.42126611C>Gc.505G>T, c.886C>T, c.1457G>Cp.Gly169Ter, p.Arg296Cys, p.Ser486ThrNo0-0.1%*12No functionrs5030862, rs16947, rs1135840124G>A, 2850C>T, 4180G>C124G>A, 2851C>T, 4181G>Cg.5143G>A, g.7870C>T, g.9200G>Cg.42130668C>T, g.42127941G>A, g.42126611C>Gc.124G>A, c.886C>T, c.1457G>Cp.Gly42Arg, p.Arg296Cys, p.Ser486ThrNo0-1.7%*14Decreased functionrs5030865, rs16947, rs11358401758G>A, 2850C>T, 4180G>C1759G>A, 2851C>T, 4181G>Cg.6778G>A, g.7870C>T, g.9200G>Cg.42129033C>T, g.42127941G>A, g.42126611C>Gc.505G>A, c.886C>T, c.1457G>Cp.Gly169Arg, p.Arg296Cys, p.Ser486ThrYes0-0.3%*15No functionrs774671100137_138insT137_138insTg.5156dupg.42130655dupc.137dupp.Leu47fsYes0-0.6%*21No functionrs72549352, rs16947, rs11358402579_2580insC, 2850C>T, 4180G>C2580_2581insC, 2851C>T, 4181G>Cg.7599dup, g.7870C>T, g.9200G>Cg.42128218dup, g.42127941G>A, g.42126611C>Gc.805dup, c.886C>T, c.1457G>Cp.Arg269fs, p.Arg296Cys, p.Ser486ThrYes0-0.4%*31No functionrs267608319, rs16947, rs11358404042G>A, 2850C>T, 4180G>C4043G>A, 2851C>T, 4181G>Cg.9062G>A, g.7870C>T, g.9200G>Cg.42126749C>T, g.42127941G>A, g.42126611C>Gc.1319G>A, c.886C>T, c.1457G>Cp.Arg440His, p.Arg296Cys, p.Ser486ThrYes0-0.8%*40No functionrs72549356, rs28371706, rs16947, rs11358401863_1864ins
TTTCGCCCCTTTCGCCCC, 1023C>T, 2850C>T, 4180G>C1864_1865ins
TTTCGCCCCTTTCGCCCC, 1022C>T, 2851C>T, 4181G>Cg.6875_6883
TTTCGCCCC[3], g.6041C>T, g.7870C>T, g.9200G>Cg.42128934_42128942AAAGGGGCG[3], g.42129770G>A, g.42127941G>A, g.42126611C>Gc.514_522
TTTCGCCCC[3], c.320C>T, c.886C>T, c.1457G>Cp.172_174FRP[3], p.Thr107Ile, p.Arg296Cys, p.Ser486ThrYes0-1.3%*42No functionrs72549346, rs16947, rs11358403260_3261insGT, 2850C>T, 4180G>C3261_3262insGT, 2851C>T, 4181G>Cg.8279_8280dup, g.7870C>T, g.9200G>Cg.42127532_42127533dup, g.42127941G>A, g.42126611C>Gc.1088_1089dup, c.886C>T, c.1457G>Cp.Gln364fs, p.Arg296Cys, p.Ser486ThrNo0-0.5%*49Decreased functionrs1135822, rs1065852, rs11358401611T>A, 100C>T, 4180G>C1612T>A, 100C>T, 4181G>Cg.6631T>A, g.5119C>T, g.9200G>Cg.42129180A>T, g.42130692G>A, g.42126611C>Gc.358T>A, c.100C>T, c.1457G>Cp.Phe120Ile, p.Pro34Ser, p.Ser486ThrNo0-1.1%*56No functionrs72549347, rs11358403201C>T, 4180G>C3202C>T, 4181G>Cg.8221C>T, g.9200G>Cg.42127590G>A, g.42126611C>Gc.1030C>T, c.1457G>Cp.Arg344Ter, p.Ser486ThrYes0-0.2%*59Decreased functionrs79292917, rs16947, rs11358402939G>A, 2850C>T, 4180G>C2940G>A, 2851C>T, 4181G>Cg.7959G>A, g.7870C>T, g.9200G>Cg.42127852C>T, g.42127941G>A, g.42126611C>Gc.975G>A, c.886C>T, c.1457G>Cp.Pro325= (splicing defect), p.Arg296Cys, p.Ser486ThrYes0-0.7%Hybrid genesno functionvariable