NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China

BMC Pulmonary Medicine

Table 1 The 9 candidates for HHT after variants filtering

CHR	Position^a	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

^aPhysical position according human reference genome hg19
Ref/Alt: Reference allele/Alternative allele, CHR:chromosome, SNP: single nucleotide polymorphism, MAF: minor allele frequency

ISSN: 1471-2466