Table 3.

GLA variant details.

Fam. No.	Patient No.	Ethnicity	Nucleotide Change	Protein Change	Position	Type	Phenotype
1	1,2,3,4,5,6	Hispanic	c.983G > T	G328V	Exon 6	Missense	Classic
2	7,8	Caucasian	c.1250 T > G	L417R	Exon 7	Missense	Classic
3	9,10,11	Caucasian	c.132G > T	W44C	Exon 1	Missense	Classic
4	12	Caucasian	c.568delG	A190PfsX2	Exon 4	Small Deletion	Classic
5	13,14	Caucasian	c.1041_1042insG	A348GfsX27	Exon 7	Small Insertion	Classic
6	15	Hispanic	c.706 T > C	W236R	Exon 5	Missense	Classic
7	16	Caucasian	c.680G > A	R227Q	Exon 5	Missense	Classic
8	17	Caucasian	c.816C > A	N272K	Exon 6	Missense	Classic
9	18	Caucasian	c.730G > A	D244N	Exon 5	Missense	Classic/ Later Onset
10	19	Asian	c.639 + 919G > A	IVS4 + 919G > A	Intron 4	Splicing	Later Onset
11	20	Asian	c.427G > C	A143P	Exon 3	Missense	Classic
12	21	Hispanic	c.639 + 4A > T	IVS4 + 4A > T	Intron 4	Splicing	Classic
13	22	Caucasian	c.1226_1231delCCACAG	P409_G411delinsR	Exon 7	Small Deletion	Classic
14	23	Hispanic	c.1088G > A	R363H	Exon 7	Missense	Later Onset
15	24,25	Hispanic	c.1072_1074delGAG	E358del	Exon 7	Small Deletion	Classic
16	26	Caucasian	c.1246C > T	Q416X	Exon 7	Nonsense	Classic

Novel variant is bolded.