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Table 2 Coding variants of the ALPL gene found in atypical fracture (AFF) patients and controls

From: Hypophosphatasia and the risk of atypical femur fractures: a case–control study

Variant ID cDNA variant Protein variant Variant allele frequency in AFF patients (n = 10) Variant allele frequency in controls (n = 9) Variant allele frequency in ESP-EAa
rs1780316 c.330 T > C p.S110S 1.00 0.94 0.95
rs3200254 c.787 T > C p.Y263H 0.20 0.17 0.11
rs3200255 c.876A > G p.P292P 0.20 0.17 0.11
rs34605986 c.1565 T > C p.V522A 0.10 0.00 0.10
  1. aESP-EA NHLBI Exome-Sequencing Project-European American samples, n = 4300 samples