Table 2.

Variant frequencies of GBA-PD samples based on three different primer sets unique for the functional GBA1 gene and two different polymerase enzymes.

Sample	Variant	TaKaRa			Q5
		Primer 1	Primer 3	Primer4	Primer 1	Primer 3	Primer4
1	E326K	Low yield*	99.9	99.8	100	100	100
2	E326K	99.8	99.9	99.8	99.9	100	100
3	E326K	51.2	53.2	51.7	47.7	48.3	50.4
4	E326K	48.6	50.4	50.5	47.5	49.4	51.4
5	E326K	48.1	47.6	47.1	33.4	32.3	31
6	T369M; L324P	50.7; 47.1	48.1; 50.3	50.7; 47.8	50; 47.7	49.5; 49	50.8; 48
7	T369M	48.7	50.8	49.7	63.3	64.5	68.3
8	L444P	44.4	42.4	43.9	27.8	28.3	23.6
9	E326K	48.4	49.8	48.4	34.2	Low yield*	29.8
10	E326K	49	47	48.7	27	28.6	23.6
11	E326K	48.5	48.3	49.9	24.8	23	18.8
12	N370S	49.5	53.1	53.7	51.5	53.5	52.9

See Table 3 for HGVS nomenclature.

*Two samples had a relatively low yield after PCR and could not reliably be sequenced.