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Table 2 Novelty and geographic origin of ANTXR2 variants identified by the present study

From: Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Variant Predicted consequence Times observed by present study Novel? Patient origin in present study Patient origin in previous studies†
3c.51delC p.L19Cfs*56 1 yes 1 x Africa –
c.134 T > C p.L45P 4 – 4 x Middle East Middle East,
c.652 T > C p.C218R 1 – 1 x Middle East Asia
c.720delT p.S240Rfs*20 2 yes 2 x Middle East –
c.994delC p.L332Wfs*5 1 yes 1 x Africa –
c.1073delC p.P358Lfs*51 1 – 1 x Africa Asia
c.1073dupC p.A359Cfs*13 1 – 1 x Middle East Middle East, Japan, North America, Latin America, Asia, Europe, unreported
c.1074delT p.A359Hfs*50 6 – 5 x Middle East, 1 x Latin America Middle East, Asia, Africa, Latin America, unreported
c.1294C > T p.R432* 1 – 1 x Asia Latin America, Asia, unreported
c.1180-?_1428 +?del p.V394_490del 1 – 1 x Middle East Latin America
  1. †for references see Additional file 3: Table S3
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172