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

Table 2 Rare variants identified in ACTN1

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
B200837^a				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
B200281^a				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
B200285^a				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

ISSN: 1756-994X