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. 2016 Jun 1;20(6):276–284. doi: 10.1089/gtmb.2016.0014

Table 1.

Donors in Cohort

No. Ancestrya Panel resultsb NGSc
 1 Latin American DHCR7:c.964-1G>C (CSY); IDUA:p.Q70* (CSY) 8
 2 Latin American HBA:g.-3.7 (GSG) 8
 3 African American   7
 4 Latin American   7
 5 W. European   7
 6 E. European/W. European/S. European GBA:p.N409S (GSG, CSY) 6
 7 W. European/S. European   6
 8 W. European   5
 9 East Asian   5
10 South Asian SMN1:g.delExon7 (GSG) 5
11 East Asian SMN1:g.delExon7 (GSG) 5
12 African American   4
13 European/Native American   4
14 S. European   4
15 African American HBA:g.-3.7 (GSG) 3
16 W. European   3
17 S. European/E. European/W. European BLM:p.M1T (GSG) 3
18 W. European/Latin American   3
19 E. European   3
20 Asiand   3
21 W. European ACADM:p.K333E (CSY, TAM) 2
22 W. European/Native American   2
23 W. European/S. European   2
24 W. European PYGM:p.R50* (CSY) 2
25 S. European   1
26 W. European/E. European   1
27 Latin American   1
a

Self-identified.

b

HGVS nomenclature.

c

Total number of DCV and HLGD variants detected by NGS.

d

Self-reported ancestry not available. Race/ethnicity taken from GSG report used as indication of ancestry.

CSY, Counsyl; DCV, defined clinical variants; GSG, Good Start Genetics; HLGD, high likelihood of gene dysfunction; NGS, next-generation sequencing; TAM, 23andMe.