The haplotype panel studied in the patients with the ex4-5del mutation
| Haplotype panel . | Polymorphic frequency . | SNP reference number . | Common haplotype 1 . | Haplotype 2 . |
|---|---|---|---|---|
| c.-11254A>G | 0.37/0.63 | rs10774398 | G | G |
| c.-6231G>A | 0.35/0.65 | rs10774394 | A | A |
| c.-6117G>A | 0.33/0.67 | rs10849387 | A | A |
| c.-2709C>T | 0.71/0.29 | rs7964777 | T | T |
| c.-2661A>G | 0.71/0.29 | rs7954855 | G | G |
| c.-2527G>A | 0.71/0.29 | rs7965413 | A | A |
| c.-2522C>T | 0.96/0.04 | — | C | C |
| c.-64C>T | 0.35/0.65 | rs2286608 | T | T |
| c.-20C>T | 0.99/0.01 | rs41276742 | C | C |
| c.220+2421C>T | 0.35/0.65 | rs10849385 | T | T |
| c.220+3364G>A | 0.35/0.65 | rs7961844 | A | A |
| c.220+3793A>T | 0.34/0.66 | rs12307072 | T | T |
| c.221-1953G>T | 0.34/0.66 | rs3782716 | T | T |
| c.954T>A | 0.96/0.04 | rs1800387 | T* | T* |
| c.1411G>A | 0.45/0.55 | rs1800377 | G* | G* |
| c.1451G>A | 0.62/0.38 | rs1800378 | G* | G* |
| c.2282-42C>A | 0.46/0.54 | rs216293 | A* | C* |
| c.2365A>G | 0.67/0.33 | rs1063856 | A* | G* |
| c.2385T>C | Unknown | rs1063857 | T* | C* |
| c.3414C>T | 0.98/0.02 | rs4008538 | T* | C* |
| c.4141A>G | 0.46/0.54 | rs216311 | A* | G* |
| c.4641C>T | 0.42/0.58 | rs216310 | T* | C* |
| c.4665A>C | 0.64/0.36 | rs1800384 | A* | A* |
| c.5844C>T | 0.71/0.29 | rs216902 | C* | T* |
| c.7682T>A | 0.94/0.06 | rs35335161 | T* | T* |
| Haplotype panel . | Polymorphic frequency . | SNP reference number . | Common haplotype 1 . | Haplotype 2 . |
|---|---|---|---|---|
| c.-11254A>G | 0.37/0.63 | rs10774398 | G | G |
| c.-6231G>A | 0.35/0.65 | rs10774394 | A | A |
| c.-6117G>A | 0.33/0.67 | rs10849387 | A | A |
| c.-2709C>T | 0.71/0.29 | rs7964777 | T | T |
| c.-2661A>G | 0.71/0.29 | rs7954855 | G | G |
| c.-2527G>A | 0.71/0.29 | rs7965413 | A | A |
| c.-2522C>T | 0.96/0.04 | — | C | C |
| c.-64C>T | 0.35/0.65 | rs2286608 | T | T |
| c.-20C>T | 0.99/0.01 | rs41276742 | C | C |
| c.220+2421C>T | 0.35/0.65 | rs10849385 | T | T |
| c.220+3364G>A | 0.35/0.65 | rs7961844 | A | A |
| c.220+3793A>T | 0.34/0.66 | rs12307072 | T | T |
| c.221-1953G>T | 0.34/0.66 | rs3782716 | T | T |
| c.954T>A | 0.96/0.04 | rs1800387 | T* | T* |
| c.1411G>A | 0.45/0.55 | rs1800377 | G* | G* |
| c.1451G>A | 0.62/0.38 | rs1800378 | G* | G* |
| c.2282-42C>A | 0.46/0.54 | rs216293 | A* | C* |
| c.2365A>G | 0.67/0.33 | rs1063856 | A* | G* |
| c.2385T>C | Unknown | rs1063857 | T* | C* |
| c.3414C>T | 0.98/0.02 | rs4008538 | T* | C* |
| c.4141A>G | 0.46/0.54 | rs216311 | A* | G* |
| c.4641C>T | 0.42/0.58 | rs216310 | T* | C* |
| c.4665A>C | 0.64/0.36 | rs1800384 | A* | A* |
| c.5844C>T | 0.71/0.29 | rs216902 | C* | T* |
| c.7682T>A | 0.94/0.06 | rs35335161 | T* | T* |
Common haplotype 1 was observed in all patients heterozygous or homozygous for the deletion. Haplotype 2 was seen in 2 related type 3 VWD cases in the compound heterozygous state with haplotype 1. Common haplotype 1 and haplotype 2 are identical 5′ of the deletion and differ 3′ of the deletion.
— indicates not applicable.
3′ haplotype panel.