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. 2018 Jan 30;2(1):e39–e48. doi: 10.1055/s-0037-1618571

Table 2. Type 1 von Willebrand disease mutations/neutral variants identified among the 126 index cases.

SNP ID Chr. position a Base change Exon Amino acid change Index cases MAF in ExAC b In silico prediction c VWD type in database d
Nonsense
 rs61750595 6127609 c.4975C > T 28 p.R1659* 4 0.00008 3
 New 6094247 c.6940C > T 40 p.Q2314* 1 0
 rs61751296 6078503 c.7603C > T 45 p.R2535* 3 0.00005 3
 New 6058958 c.8247C > A 51 p.Y2749* 1 0
Missense
 New 6204703 c.580A > G 6 p.S194G 1 0 1
 rs199570108 6181528 c.1078G > A 9 p.G360S 1 0.0002 4
 rs41276738 6143978 c.2561G > A 20 p.R854Q 2 0.004 3 1
 rs267607328 6131977 c.3467C > T 26 p.T1156M 1 0 4 1
 rs61749367 6128898 c.3686T > G 28 p.V1229G 2 0.001 0 1
 rs61749368 6128892 c.3692A > C 28 p.N1231T 2 0.001 1 1
 rs61750074 6128449 c.4135C > T 28 p.R1379C 1 0.00002 3 1
 rs61750079 6128346 c.4238C > T 28 p.P1413L 1 0.00001 4 1
 rs1800386 6127833 c.4751A > G 28 p.Y1584C 11 0.004 3 1
 rs61750604 6125715 c.5278G > A 30 p.V1760I 1 0.001 0 1
 New 6122758 c.5509C > T 32 p.R1837W 1 0 4
 New 6121281 c.5636G > T 33 p.C1879F 1 0 3
 New 6121256 c.5661G > T 33 p.K1887N 1 0 1
 New 6120827 c.5798C > T 34 p.P1933L 1 0 3
 rs144072210 6105380 c.5851A > G 35 p.T1951A 1 0.001 1
 New 6103210 c.6416G > A 37 p.C2139Y 1 0 4
 New 6094737 c.6893C > T 39 p.T2298M 1 0.0002 3
 rs764980510 6092417 c.6980G > A 41 p.C2327Y 4 0.00003 4
 rs144769404 6092390 c.7007C > T 41 p.P2336L 1 0.0002 0
 New 6090995 c.7244C > T 42 p.T2415I 1 0 3
 New 6085371 c.7343G > A 43 p.C2448Y 1 0 4
 rs61751286 6085324 c.7390C > T 43 p.R2464C 1 0.00006 3 1
 rs61751289 6085284 c.7430G > A 43 p.C2477Y 1 0 4 1
 New 6078427 c.7679G > T 45 p.G2560V 1 0 4
 rs61751302 6062708 c.7940C > T 48 p.T2647M 1 0.003 1 1
Synonymous and splice
 rs2229444 6219682 c.390C > T 5 SYN 3 0.003 1
 rs143054357 6204737 c.546G > A 6 SYN 1 0.001 2
 New 6173411 c.1432 + 1G > T 12 Splice 1 0 2
 New 6128504 c.4080C > T 28 SYN 1 0 2
 rs140464171 6128438 c.4146G > T 28 SYN 2 0.0009 2 Polym.
 New 6128162 c.4422A > G 28 SYN 1 0 1
 rs144796763 6128141 c.4443G > T 28 SYN 1 0.002 1
 rs55784921 6103738 c.6099C > T 36 SYN 2 0.002 1 Polym.
 rs55944252 6085370 c.7344C > T 43 SYN 1 0.0003 2 Polym.
 rs41276732 6061593 c.8079C > T 49 SYN 3 0.003 2
Deletion/duplication
 New Deletion 14–52 1
 New 6166017 c.1931_1945 e 15 1
 New 6128169 c.4414delG 28 p.D1472Tfs*53 1 0
 New Deletion 28 1
 New Deletion 28 1

Abbreviations: Chr., chromosome; ExAC, Exome Aggregation Consortium; MAF, minor allele frequency; SNP, single nucleotide polymorphism; VWD, von Willebrand disease.

a

According to GRCh37p13.

b

MAF observed in 33,000 individuals from the non-Finnish European population in the ExAC database.

c

For missense mutations, the predictions are classified according to damaging (1) or tolerated (0) using the programs SIFT, PolyPhen-2, Condel 2.0, and MutationTaster. Synonymous changes are classified as potential alteration of splicing (1) or not (0) using Human Splicing Finder and NNSPLICE. The table presents the sum of all predictions.

d

von Willebrand factor Variant Database, previously ISTH-SSC VWF Online Database.

e

Complete base change is c.1931_1945 + 5delAGCCAGGCCGCTGTGGTGCG.