Table 1. TERC mutations and... | American Society of Hematology

Table 1.

TERC mutations and polymorphisms

	n21 (C > T)^*	n58 (G > A)	n228 (G > A)	n305 (G > A)	n322 (G > A)	n450 (G > A)	n467 (T > C)†
AA or AA/PNH (n = 150) and PNH (n = 5)	0/155	1/155	1/155	1/155	0/155	1/155	1/155
MDS (n = 55)	0/55	2/55	0/55	0/55	1/55	0/55	0/55
Total	0/210	3/210	1/210	1/210	1/210	1/210	1/210
Healthy controls‡
White	1/123	0/123	0/123	0/123	0/123	0/123	0/123
Hispanic	0/23	0/23	0/23	0/23	0/23	0/23	0/23
Black	0/24	5/24	1/24	0/24	0/24	0/24	0/24
Asian	0/24	0/24	0/24	0/24	0/24	0/24	0/24
Total	1/194	5/194	1/194	0/194	0/194	0/194	0/194

	n21 (C > T)^*	n58 (G > A)	n228 (G > A)	n305 (G > A)	n322 (G > A)	n450 (G > A)	n467 (T > C)†
AA or AA/PNH (n = 150) and PNH (n = 5)	0/155	1/155	1/155	1/155	0/155	1/155	1/155
MDS (n = 55)	0/55	2/55	0/55	0/55	1/55	0/55	0/55
Total	0/210	3/210	1/210	1/210	1/210	1/210	1/210
Healthy controls‡
White	1/123	0/123	0/123	0/123	0/123	0/123	0/123
Hispanic	0/23	0/23	0/23	0/23	0/23	0/23	0/23
Black	0/24	5/24	1/24	0/24	0/24	0/24	0/24
Asian	0/24	0/24	0/24	0/24	0/24	0/24	0/24
Total	1/194	5/194	1/194	0/194	0/194	0/194	0/194

21 base pair upstream from 5′ transcription region of TERC

16 bp downstream from 3′ transcription region of TERC

Healthy controls are SNP500