Table 1.

Stratification by multimer pattern and mutation status, linkage, and type of mutation

	Multimer pattern19	Mutation identified	n	VWFpp,U/dL	VWFpp/VWF:Ag	FVIII:C/VWF:Ag	VWF:RCo/VWF:Ag
IC + AFM	Normal	No	113	92 (81-108)	1.6 (1.3-1.9)	1.4 (1.1-1.7)	1.1 (0.9-1.2)
		Yes	134	81 (64-101)	2.0 (1.5-2.4)	1.7 (1.2-2.3)*	1.0 (0.9-1.2)
	Abnormal	Yes	150	79 (65-100)	4.3 (2.9-7.0)	1.8 (1.2-2.5)	0.6 (0.3-0.9)†
UFM	Normal	No	255	111 (98-128)	1.2 (1.0-1.5)	1.2 (0.9-1.4)	1.0 (0.8-1.2)
		Yes	31	115 (97-132)	1.4 (1.1-1.8)	1.3 (1.1-1.7)	0.9 (0.8-1.2)
Linkage of mutation‡
Cosegregation			174	78 (65-99)	3.3 (2.0-5.4)	1.9 (1.3-2.6)§	0.8 (0.4-1.1)
No cosegregation			57	80 (63-103)	2.4 (1.6-4.0)	1.6 (1.0-2.0)	1.0 (0.6-1.2)║
P cosegregation vs no cosegregation				0.786	0.048	0.003	0.11
Type of mutation
Missense mutations			228	89 (73-109)	2.8 (1.8-5.3)	1.6 (1.1-2.1)¶	0.8 (0.5-1.1)¶
“Null” mutations#			20	72 (63-85)	2.0 (1.7-2.4)	2.4 (2.0-2.8)	1.1 (1.0-1.3)
HC			387	118 (104-136)	1.2 (1.0-1.5)	1.1 (1.0-1.3)**	1.1 (0.9-1.3)
P missense vs null				0.001	0.007	<0.001	0.001

Results are indicated as median (25th to 75th percentile).

^*n = 133.

^†n = 149.

^‡Linkage was defined as complete cosegregation (pedigrees with no phenocopies and fully penetrant) or incomplete cosegregation (pedigrees with either phenocopies or nonpenetrance).¹⁴

^§n = 173.

^║n = 56.

^¶n = 227.

^#Comprise premature stop codons caused by nonsense mutations, frame shifts (small deletions and insertions), and out-of-frame splice site mutations.

^**n = 385.