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Table 1 The 9 candidates for HHT after variants filtering

From: NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China

CHR Positiona Ref/Alt SNP GenBank transcript ID Function Amino Acid changes cDNA changes PolyPhen CADD Score Gene MAF in GnomAD
5 141,036,099 C/T rs75953884 NM_022481 missense ARG,HIS c.3761G > A 0.632 16.68 ARAP3 0.000733
18 10,549,082 A/G novel NM_003826 missense MET,VAL c.784A > G 0.957 5.54 NAPG NA
7 1,049,698 T/C rs568083670 NM_001134395 missense LYS,GLU c.211A > G 0.996 15.11 C7orf50 0.000201
7 1,026,318 C/T rs369538884 NM_017781 missense ARG,HIS c.704G > A 0.997 12.47 CYP2W1 0.000008
20 36,022,675 C/T rs146865960 NM_005417 missense THR,MET c.548C > T 0.997 13.53 SRC 0.000008
4 107,845,819 G/A rs146683175 NM_014421 missense HIS,TYR c.412C > T 0.999 28.70 DKK2 0.001529
6 159,618,528 T/C rs374967242 NM_032532 missense TRP,ARG c.175 T > C 1 16.42 FNDC1 0.000325
15 23,685,007 TCTCCTCCTGCCCC/T rs139919701 NM_001304388.2 frameshift-near-splice none c.2602_2614delGGGGCAGGAGGAGA - - GOLGA6L2 NA
7 2,405,952 G/A rs147656962 NM_001037283 synonymous-near-splice ARG, ARG c.1158G > A - 0.95 EIF3B 0.002907
  1. aPhysical position according human reference genome hg19
  2. Ref/Alt: Reference allele/Alternative allele, CHR:chromosome, SNP: single nucleotide polymorphism, MAF: minor allele frequency