. 2018 Nov 28;9(12):585. doi: 10.3390/genes9120585

Table 5.

Calculated frequencies for compound heterozygous DPYD patients. Using the average MAFs of the ExAC and gnomAD databases (for DPYD*2A, DPYD*13, c.1236G>A, and c.2846A>T, these are 0.55%, 0.03%, 1.43%, and 0.27%, respectively), possible combinations for two out of four currently genotyped DPYD variants are shown. Abbreviations: MAF: minor allele frequency; ExAC: Exome Aggregation Consortium; gnomAD: Genome Aggregation Database.

Combination of DPYD Variants	Calculated Frequency
DPYD2A + DPYD**13	0.0002%
DPYD*2A + c.1236G>A	0.008%
DPYD*2A + c.2846A>T	0.001%
DPYD*13 + c.1236G>A	0.0005%
DPYD*13 + c.2846A>T	0.0001%
c.1236G>A + c.2846A>T	0.004%