Table 2.
Only 39.7% of patients with low VWF were found to have a damaging VWF gene variant
| HGVSc | SNV | MAF | Mutation | Number of patients | Classification |
|---|---|---|---|---|---|
| c.3692A>G c.3686T>G | rs61749368 rs61749367 | 0.0022/224 0.0024/235 | p.Asn1231Thr p.Val1229Gly | 9 | Type 1 VWD |
| c.4196G>A | rs1800382 | 0.0087/1048 | p.Arg1399His | 6 | Collagen IV and VI binding defects |
| c.4751A>G | rs1800386 | 0.0029/356 | p.Tyr1584Cys | 11 | Type 1 VWD |
| c.3797C>T | rs61749370 | 0.0007/89 | p.Pro1266Leu | 3 | Type 1 VWD |
| c.5557C>T | rs61750612 | 0.00002/2 | p.Arg1853* | 2 | Type 1 VWD |
| c.7390C>T | rs61751286 | 0.00004/5 | p.Arg2464Cys | 4 | Type 1 VWD abnormal multimers pattern |
| c.7520_7521delGG | p.Arg2507fs | 3 | Type 1 VWD | ||
| c.6187C>T | rs61750615 | 0.0127/1545 | p.Pro2063Ser | 1 | Type 1 VWD |
| c.5791C>T | p.Gln1931* | 1 | Type 1 VWD | ||
| c.2561G>A | rs41276738 | 0.0031/374 | p.Arg854Gln | 2 | Type 2N VWD |
| c.6853_6856delAGCG | p.Ser2285fs | 1 | Type 1 VWD | ||
| c.7770+1G>A | rs200770256 | splice donor variant | 1 | Damaging in all algorithms | |
| c.2515delG | p.Gly839fs | 1 | Type 1 VWD | ||
| c.8084C>G | rs76459136 | 0.0002/24 | p.Pro2695Arg | 2 | Mainly damaging in algorithms |
| c.4696C>T | rs61750112 | p.Arg1566* | 1 | Type 1 VWD | |
| c.1548T>A | p.Tyr516* | 1 | Type 1 VWD | ||
| c.7627C>T | p.Gln2543* | 2 | Type 1 VWD | ||
| c.4944delT | p.Pro1648fs | 1 | type 1 VWD | ||
| c.6553C>T | rs569962285 | 0.00003/3 | p.Arg2185Trp | 2 | Damaging in all algorithms |
Variants were identified in low VWF cohort by custom genetic array (see “Methods”) that causes unequivocally VWD or are predictively damaging in VWF by bioinformatics algorithms. p.Asn1231Thr and p.Val1229Gly possibly occur on the same haplotype. Minor allele frequencies (MAF) were obtained from ExAC browser (http://exac.broadinstitute.org).
HGVSc, Human Genome Variation Society notation in the complementary DNA.
*
Termination or stop codon.