BioMed Research International / 2020 / Article / Tab 2 / Research Article
Next-Generation Sequencing Panel Analysis of Clinically Relevant Mutations in Circulating Cell-Free DNA from Patients with Gestational Trophoblastic Neoplasia: A Pilot Study Table 2 Details of overlapping mutations.
No. Gene Transcript Patients Exons Nucleotide variation Type 1 BMPR1A NM_004329 P1 Exon10 c.1001 T > C SNV P2 Exon10 c.1001 T > C SNV P8 Exon10 c.1001 T > C SNV 2 LRP1B NM_018557 P1 Exon39 c.6221 A > C SNV P9 Exon43 c.7034 T > G SNV P10 Exon39 c.6221 A > C SNV 3 ERCC4 NM_005236 P4 Exon9 c.1853 T > A SNV P10 Exon2 c.304 A > T SNV 4 FGF14 NM_001321937 P1 Exon4 c.424-3delT Splicing P3 Exon4 c.424-3delT Splicing 5 HSP90AA1 NM_005348 P2 Exon5 c.836_838delAGA Deletion P3 Exon5 c.836_838delAGA Deletion 6 KAT6A NM_006766 P1 Exon2 c.282 A > T SNV NM_006766 P2 Exon16 c.3218_3219insGGA Insertion 7 KMT2D NM_003482 P2 Exon13 c.4059_4061delGGA Deletion NM_003482 P5 Exon10 c.1301 T > G SNV 8 MAP3K1 NM_005921 P1 Exon14 c.2917_2918insCTC Insertion P3 Exon20 c.4487delG Deletion 9 RANBP2 NM_006267 P5 Exon16 c.2275 G > A SNV P8 Exon20 c.6680 A > G SNV 10 ZNF217 NM_006526 P1 Exon3 c.1645 G > A SNV P10 Exon3 c.1645 G > A SNV