Moleculairebepalingen importgeneset.genesetmeta.ngs_reference_number ID1234 importgeneset.line[1].build hg19 importgeneset.line[1].chr 7 importgeneset.line[1].start 55249071 importgeneset.line[1].ref C importgeneset.line[1].alt T importgeneset.line[1].coverage 111111 importgeneset.line[1].frequency 10.9 importgeneset.line[1].gene EGFR importgeneset.line[1].transcript NM_005228.4 importgeneset.line[1].exon 19 importgeneset.line[1].coding c.2369C>T importgeneset.line[1].protein p.Thr790Met importgeneset.line[1].klasse 3 importgeneset.line[2].build hg19 importgeneset.line[2].chr 7 importgeneset.line[2].start 55242469_55242488 importgeneset.line[2].ref TTAAGAGAAGCAACATCTCC importgeneset.line[2].alt CA importgeneset.line[2].coverage 2111 importgeneset.line[2].frequency 70 importgeneset.line[2].gene EGFR importgeneset.line[2].transcript NM_005228.4 importgeneset.line[2].exon 19 importgeneset.line[2].coding c.2239_2258delinsCA importgeneset.line[2].protein p.Leu747_Pro753delinsGln importgeneset.line[2].klasse 5 importgeneset.line[3].build hg19 importgeneset.line[3].chr 7 importgeneset.line[3].start 55249012_55249013 importgeneset.line[3].ref importgeneset.line[3].alt GGGGTT importgeneset.line[3].coverage 2260 importgeneset.line[3].frequency 41 importgeneset.line[3].gene EGFR importgeneset.line[3].transcript NM_005228.4 importgeneset.line[3].exon 20 importgeneset.line[3].coding c.2310_2311insGGGGTT importgeneset.line[3].protein p.Asp770_Asn771insGlyVal importgeneset.line[3].klasse 5 importgeneset.line[4].build hg19 importgeneset.line[4].chr 4 importgeneset.line[4].start 55593624_55593668 importgeneset.line[4].ref AATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTAT importgeneset.line[4].alt importgeneset.line[4].coverage 5174 importgeneset.line[4].frequency 30 importgeneset.line[4].gene KIT importgeneset.line[4].transcript NM_000222.2 importgeneset.line[4].exon 11 importgeneset.line[4].coding c.1690_1734delAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTAT importgeneset.line[4].protein p.Asn564_Tyr578del importgeneset.line[4].klasse 5 importgeneset.line[5].build hg19 importgeneset.line[5].chr 12 importgeneset.line[5].start 25398284 importgeneset.line[5].ref G importgeneset.line[5].alt A importgeneset.line[5].coverage 50 importgeneset.line[5].frequency 32 importgeneset.line[5].gene KRAS importgeneset.line[5].transcript NM_004985.4 importgeneset.line[5].exon 2 importgeneset.line[5].coding c.35G>A importgeneset.line[5].protein p.Gly12Asp importgeneset.line[5].klasse 5 importcnvset.CNVline[1].CNVexport true importcnvset.CNVline[1].CNVgene EGFR importcnvset.CNVline[1].type_aberratie amplificatie importcnvset.CNVline[1].aantal_kopieen 5 importcnvset.CNVline[1].rel_coverage 10 importcnvset.CNVline[1].z_score 8