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Table 2 Rare variants identified in ACTN1

From: Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Case Transcript variant ENST00000394419 Protein variant ENSP00000377941.4 HGMD variant Classification PLT, ×10 9 /L MPV, fL, and/or presence of macrothrombocytes Bleeding phenotype
B200726 14:69392385 A/C F37C No LPV 57 18.1, macrothrombocytes None
B200207 14:69392358 C/T R46Q Yes PV 53 >13, macrothrombocytes None
B200209     PV 76 >13, macrothrombocytes Mild
B200212     PV 98 >13, macrothrombocytes None
B200254     PV 34 >13, macrothrombocytes None
B200735     PV 52 12.0, macrothrombocytes None
B200746 14:69392359 G/A R46W No LPV 96 15.2, macrothrombocytes None
B200197 14:69392344 G/C Q51E No LPV 113 >13, macrothrombocytes Mild
B200836 14:69387750 C/T V105I Yes PV 53 NA, macrothrombocytes None
B200837a     PV 75 NA, macrothrombocytes None
B200671 14:69371375 C/T E225K Yes PV 97 13.7, macrothrombocytes Mild
B200716     PV 82 15.0, macrothrombocytes None
B200398 14:69369274 C/T V228I No LPV 31 15.4, macrothrombocytes Mild
B200280 14:69358897 C/T R320Q No LPV 108 15.1, macrothrombocytes Mild
B200281a     LPV 111 13.9, macrothrombocytes None
B200835 14:69352254 C/T A425T No VUS 50 10.0, no macrothrombocytes Mild
B200283 14:69349768 A/G L547P No LPV 91 13.3, macrothrombocytes Mild
B200048 14:69349648 G/A A587V No VUS 390 NA, no macrothrombocytes Mild
B200284 14:69346749 G/T T737N No LPV 60 16.1, macrothrombocytes Mild
B200285a     LPV 48 16.8, macrothrombocytes Mild
B200741 14:69346747 G/A R738W Yes PV 94 12.9, macrothrombocytes None
B200745     PV 70 14.5, macrothrombocytes None
B200750 14:69346746 C/T R738Q No LPV 106 14.0, macrothrombocytes None
B200414 14:69346704 C/G R752P No LPV 121 11.4, macrothrombocytes Mild
  1. aAffected family member.