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Table 1 Identified genetic variants passing quality control

From: Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

Transcript Variant Protein Variant Gene Region Variant Type Activity Classification Impact CADD Score dbSNP ID AFC Freq. 1000 Genomes Freq.
c.6115 + 103 T > C Intronic SNV normal Benign   <  10 4,074,307 22.442 44.079
c.5998 + 91 T > A Intronic SNV normal Benign   <  10 4,898,352 22.653 44.132
c.5411_5413delTCT p.F1804del Exonic Deletion loss Likely Pathogenic in-frame *    
c.3780C > G p.D1260E Exonic SNV gain Benign missense <  10 1,800,291 18.924 25.642
c.1010-27G > A Intronic SNV normal Benign   <  10 7,058,826 11.328 7.735
  1. Transcript ID NM_000132.3, chromosome X, cytoband q28, gene F8. * CADD score can not be estimated for deletions
  2. Freq frequency, CADD combined annotation dependent depletion