Table 1. Protein encoding changes... | American Society of Hematology

Table 1.

Protein encoding changes identified additionally by RHtyper analysis of WGS in a validation cohort of 57 patients with SCD

Additional changes identified by RHtyper	RHD				RHCE
Additional changes identified by RHtyper	Nucleotide	Amino acid	Discordant, n	Confirmed, n*	Nucleotide	Amino acid	Discordant, n.	Confirmed, n*
Tested by targeted RH SNP genotyping†
Zygosity	Hemizygous deletion	—	2	2	—	—	—	—
Missense	—	—	—	—	48 G>C	Trp16Cys	1	0
Not tested by targeted RH SNP genotyping
Missense	473 G>A (novel)	Ser158Asn	1	1	941 T>C	Val314Ala	2	2
Missense	520 G>C	Val174Met	1	1	941 T>C	Val314Ala	2	2

Additional changes identified by RHtyper	RHD				RHCE
Additional changes identified by RHtyper	Nucleotide	Amino acid	Discordant, n	Confirmed, n*	Nucleotide	Amino acid	Discordant, n.	Confirmed, n*
Tested by targeted RH SNP genotyping†
Zygosity	Hemizygous deletion	—	2	2	—	—	—	—
Missense	—	—	—	—	48 G>C	Trp16Cys	1	0
Not tested by targeted RH SNP genotyping
Missense	473 G>A (novel)	Ser158Asn	1	1	941 T>C	Val314Ala	2	2
Missense	520 G>C	Val174Met	1	1	941 T>C	Val314Ala	2	2

Confirmation by Sanger sequencing or independent NGS assays.

RHD and RHCE BeadChip and targeted molecular assays.¹¹