Table 2.

Minor allele frequency (MAF) of mutations identified in our 13 GA1 patients in comparison with frequency data in general population

Mutation	No. of mutant alleles	MAF	GnomAD	ExAc	ESP	POL
p.Arg402Trp	13	0.52	0.000258967	0.0002196	0.00046	0
p. Arg234Trp	4	0.16	0	0	0	0
p.Arg355Cys	3	0.12	0.0000323687	0.00003253	0	0
p.Arg313Trp	2	0.08	0.00000816413	0.00001626	0	0
p. Arg355His	1	0.04		0.00016
p. Arg227Pro	1	0.04	0.00032476	0.0001789	0.00023	0
p. Ser259Pro	1	0.04	0	0	0	0

GnomAD - The Genome Aggregation Database (http://gnomad.broadinstitute.org/);

ExAc - The Exome Aggregation Consortium (http://exac.broadinstitute.org/);

ESP – The Exome Sequencing Project (https://esp.gs.washington.edu/drupal/)

POL – The Polish 400 exomes database (in-house database)