Table 2.

Primers used for PCR, Sanger sequencing, and NGS

Locus and sequence change	Name	Primer sequence (5ʹ-3ʹ)	Sequencing type
HBB +3 A to T	HBB Fw	5ʹ-CCAACTCCTAAGCCAGTGCCAGAAGAG-3ʹ	Sanger sequencing
	HBB Rev	5ʹ-AGTCAGTGCCTATCAGAAACCCAAGAG-3ʹ
	HBB NGS Fw	5ʹ-ACACTCTTTCCCTACACGACGCTCTTCCG ATCTCCAACTCCTAAGCCAGTGCCAGAAGAG-3ʹ	NGS
	HBB NGS Rev	5ʹ-GACTGGAGTTCAGACGTGTGCTCTTCCGAT CTAGTCAGTGCCTATCAGAAACCCAAGAG-3ʹ	NGS
HEK3 +1 CTT insertion	HEK3 Fw	5ʹ-ATGTGGGCTGCCTAGAAAGG-3ʹ	Sanger sequencing
	HEK3 Rev	5ʹ-CCCAGCCAAACTTGTCAACC-3ʹ
	HEK3 NGS Fw	5ʹ-ACACTCTTTCCCTACACGACGCTCTTCCGAT CTATGTGGGCTGCCTAGAAAGG-3ʹ	NGS
	HEK3 NGS Rev	5ʹ-GACTGGAGTTCAGACGTGTGCTCTTCCGA TCTCCCAGCCAAACTTGTCAACC-3ʹ	NGS
RNF2 +5 G to T	RNF2 Fw	5ʹ-ACGTCTCATATGCCCCTTGG-3ʹ	Sanger sequencing
	RNF2 Rev	5ʹ-ACGTAGGAATTTTGGTGGGACA-3ʹ
	RNF2 NGS Fw	5ʹ-ACACTCTTTCCCTACACGACGCTCTTCCGATC TACGTCTCATATGCCCCTTGG-3ʹ	NGS
	RNF2 NGS Rev	5ʹ-GACTGGAGTTCAGACGTGTGCTCTTCCGATCT ACGTAGGAATTTTGGTGGGACA-3ʹ	NGS
PCSK9 +1 A insertion (ngRNA2)	PCSK9 Fw	5ʹ-CTTGGCTCCCCAGAGACATC-3ʹ	Sanger sequencing
	PCSK9 Rev	5ʹ-CTAAGTCTTGCCCTCGCCTC-3ʹ
	PCSK9 NGS Fw	5ʹ-ACACTCTTTCCCTACACGACGCTCTTCCGATC TCTTGGCTCCCCAGAGACATC-3ʹ	NGS
	PCSK9 NGS Rev	5ʹ-GACTGGAGTTCAGACGTGTGCTCTTCCGATCTC TAAGTCTTGCCCTCGCCTC-3ʹ	NGS