Table 3.

Summary of discordance between WES and SNP methods designated by nucleotide position in cDNA and RH exon that were resolved by Sanger re-sequencing

Reason	cDNA position	Exon	WES	SNP array	Sanger re-sequence	Sample UPIDs
RHCE nucleotide assigned to RHD by WES	RHD c.186G>T	2	G/T	G/G	G/G	10
	RHD c.602C>G	4	C/G	G/G	G/G	60
	RHD c.667T>G	5	T/G	G/G	G/G	60
	RHD c.697G>C	5	G/C	G/G	G/G	84
RHD nucleotide assigned to RHCE by WES	RHCE c.410C>T	3	C/T	C/C	C/C	7, 50, 82
	RHCE c.654G>C	5	G/C	G/G	G/G	39
	RHCE c.916A>G	6	A/G	A/A	A/A	67, 104
Misassignment as a result of reference sequence	RHCE c.48G>C	1	G/C	G/G	G/G	33, 81, 124
	RHCE c.48G>C	1	C/C	G/C	G/C	38, 85
WES detects changes not included in SNP testing	RHD c.916G>A	6	G/A	NT	G/A	28, 81
	RHCE c.941T>C	7	T/C	NT	T/C	89, 102

NT, not tested.