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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