SNVfilter web server

Gene Symbol	OMIM	Phenotype	Mutation	rsID	Chromosome	Position	Ref	Alt	Info
MPDU1	604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	MPDU1, GLY73GLU	rs104894586	17	7585994	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_uncertain_significance;CLIN_pathogenic;AA=G
MPDU1	604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	MPDU1, LEU119PRO	rs104894587	17	7586745	T	C	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T
MPDU1	604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	MPDU1, MET1THR	rs104894588	17	7583864	T	C	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T
MPDU1	604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	MPDU1, LEU74SER	rs104894589	17	7585997	T	C	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T