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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

Fig. 1

Distribution of the pathogenic variants in the 60 participants. The two variants were detected in the MTHFR (NM_005957.4) gene: the c.665C > T variant only (in green) or c.665C > T and c.1286A > C (in blue). Three variants were found in SLC17A5 (NM_012434.4): 1 c.533del, 2 c.918T > G and 3 c.819 + 1G > A. Two variants were found in DPYD (NM_000110.3): 4 c.1905 + 1G > A and 5 c.2846A > T. Two variants were present in ACADM (NM_000016.5): 6 c.199T > C, 7 c.250C > T. The CYP27B1 gene (NM_000785.3) also harbored two variants: 8 c.1319_1325dup, 9 c.262del. The USH2A gene (NM_206933.2) also had two variants: 10c.4338_4339del, 11 c.2276G > T. The participant P009 was homozygous for the NPHS2 variant and participants P005 and P025 were homozygous for the MTHFR variant

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BMC Medical Genomics

ISSN: 1755-8794

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