Table 1 Sequence variants identified in... | American Society of Hematology

Table 1

Sequence variants identified in CXCR4

Nucleotide change*	dbSNP MAF	Protein change	Frequency (n)
Cases (n = 188)
rs56400844:157 A>C	No data†	I53L	0.005 (1)
rs2228014: 414 C>T	0.043	Synonymous	0.037 (14)
415 G>A	—	V139I	0.005 (1)
584 A>G	—	W195X	0.005 (1)
1003 A>G	—	G335S	0.005 (1)
1295 C>G	—	3′ UTR	0.005 (1)
1350 G>A	—	3′ UTR	0.005 (1)
1430 C>T	—	3′ UTR	0.005 (1)
Controls (n = 213)
153 T>A	—	Synonymous	0.004 (1)
294 C>T	—	Synonymous	0.004 (1)
rs2228014: 414 C>T	0.043	Synonymous	0.08 (19)
783 C>T	—	Synonymous	0.004 (1)
1336 G>A	—	3′ UTR	0.009(2)

Nucleotide change*	dbSNP MAF	Protein change	Frequency (n)
Cases (n = 188)
rs56400844:157 A>C	No data†	I53L	0.005 (1)
rs2228014: 414 C>T	0.043	Synonymous	0.037 (14)
415 G>A	—	V139I	0.005 (1)
584 A>G	—	W195X	0.005 (1)
1003 A>G	—	G335S	0.005 (1)
1295 C>G	—	3′ UTR	0.005 (1)
1350 G>A	—	3′ UTR	0.005 (1)
1430 C>T	—	3′ UTR	0.005 (1)
Controls (n = 213)
153 T>A	—	Synonymous	0.004 (1)
294 C>T	—	Synonymous	0.004 (1)
rs2228014: 414 C>T	0.043	Synonymous	0.08 (19)
783 C>T	—	Synonymous	0.004 (1)
1336 G>A	—	3′ UTR	0.009(2)

MAF indicates minor allele frequency of SNP in whites (as reported in dbSNP); —, not applicable; and UTR, untranslated region.

Nucleotide position is taken from the first base of the start codon; dbSNP accession number is shown where available.

No frequency data available for whites.