Table 2.
Phenotypic and genotypic data for the 34 index cases.
| Patient ID | Gender/age (M/F year) | Bleeding Score | VWF:Ag (IU/ml) | VWF:RCo (IU/ml) | FVIII:C (IU/ml) | Nucleotide Change, HGVS | Amino Acid Change, HGVS | Exon | Genotype |
|---|---|---|---|---|---|---|---|---|---|
| T001 | M/42 | 19 | 0.01 | 0.02 | 0.02 | c.221-977_532+7059del | p.Asp75_Gly178 del | 4–5 | Homozygous |
| T006B | F/11 | 11 | 0.01 | 0.01 | 0.02 | c.4006C>T | p.Arg1336* | 28 | Homozygous |
| T015 | M/72 | 8 | 0.02 | 0.02 | 0.07 | c.8418_8419insTCCC | p.Ser2807fs | 52 | Homozygous |
| T018 | F/18 | 12 | 0.04 | 0.00 | 0.0.3 | c.7399C>T, c.8418_8419insTCCC | p.Gln2467*, p.Ser2807fs | 43/52 | Compound heterozygous |
| T028 | M/34 | 16 | 0.01 | 0.01 | 0.03 | c.7730-1 G>T, c.7906A>T |
- p.Asn7906Tyr |
46/48 | Homozygous Heterozygous |
| T030 | M/66 | 7 | 0.03 | 0.01 | 0.09 | c.-2328T>G, c.2220G>A, c.3379+7A>C, c.3539-33G>A, c.3539-49C>T, c.4414dupC, c.5620+33-40delA, c.6554G>A, c.6902-5T>A, c.8418_8419insTCCC | p.Met740Ile, p.His1472fs, p.Arg2185Gln, p.Ser2807fs | 28/52 | Compound heterozygous |
| T032 | F/19 | 13 | 0.01 | 0.00 | 0.01 | c.3379+1 G>A | - | 25 | Heterozygous |
| T036 | F/41 | 25 | 0.01 | 0.01 | 0.01 | c.5180_5181insTT | p.Leu1727fs | 30 | Homozygous |
| T040 | F/4 | 11 | 0.01 | 0.03 | 0.01 | c.874+5 G>A | - | 7 | Homozygous |
| T046 | F/16 | 21 | 0.01 | 0.04 | 0.02 | c.385C>A, c.813C>A | p.Leu129Met, p.Tyr271* | 5/7 | Compound heterozygous |
| T050 | F/21 | 24 | 0.01 | 0.00 | 0.01 | c.876delC, c.1255C>T | p.Ser293fs, p.Gln419* | 8/11 | Compound heterozygous |
| T058 | F/1 | n/a | 0.01 | 0.03 | 0.02 | c.2443-?_2685+?del, c.5180_5181insTT |
p.Val815_Gln895del p.Leu1727fs |
19–20/30 | Compound heterozygous |
| T065 | M/15 | 22 | 0.01 | 0.02 | 0.01 | c.3303C>A | p.Cys1101* | 25 | Homozygous |
| T076 | M/12 | 23 | 0.01 | 0.03 | 0.01 | c.1897T>C | p.Cys633Arg | 15 | Homozygous |
| T078 | F/5 | 9 | 0.01 | 0.03 | 0.01 | c.5455+2 T>C | - | 31 | Homozygous |
| T085 | M/17 | 23 | 0.04 | 0.03 | 0.01 | c.1926G>A, c.2438dupG | p.Trp642*, p.Gly813fs | 15/18 | Compound heterozygous |
| T086 | M/1 | 3 | 0.01 | 0.02 | 0.01 | c.1A>G, c.2377C>T | p.Met1Val, p.Gln793* | 2/18 | Compound heterozygous |
| T090 | M/2 | 8 | 0.01 | 0.04 | 0.01 | c.1117C>T, gene conversion (c.3931C>T, c.4027A>G, c.4079T>C, c.4105T>A) | p.Arg373*, p.Gln1311*, p.Ile1343Val, p.Val1360Ala, p.Phe1369Ile | 10/28 | Compound heterozygous |
| T093 | M/8 | 10 | 0.02 | 0.02 | 0.04 | c.6709T>C, c.220+20G>T | p.Cys2237Arg, - | 38 | Homozygous |
| T099 | F/3 | 18 | 0.04 | 0.02 | 0.06 | c.1750_1765delinsCG | p.Cys584_Ser58 9delinsArg | 15 | Heterozygous |
| T103 | M/65 | 6 | 0.02 | 0.04 | 0.02 | c.8418_8419insTCCC | p.Ser2807fs | 52 | Homozygous |
| T108 | F/60 | 13 | 0.07 | 0.01 | 0.06 | c.4146G>T | p.(=) | n/a | n/a |
| T110 | F/41 | 23 | 0.01 | 0.01 | 0.02 | c.8418_8419insTCCC | p.Ser2807fs | 52 | Homozygous |
| T112 | M/48 | 4 | 0.04 | 0.04 | 0.08 | c.8418_8419insTCCC | p.Ser2807fs | 52 | Homozygous |
| T114 | M/47 | 8 | 0.03 | 0.02 | 0.05 | c.7399C>T, c.8418_8419insTCCC | p.Gln2467*, p.Ser2807fs | 43/52 | Compound heterozygous |
| T116 | F/29 | 6 | 0.02 | 0.04 | 0.02 | c.8418_8419insTCCC | p.Ser2807fs | 52 | Homozygous |
| T118 | F/30 | 8 | 0.02 | 0.00 | 0.05 | c.8418_8419insTCCC | p.Ser2807fs | 52 | Homozygous |
| T121 | M/62 | 7 | 0.02 | 0.05 | 0.06 | c.7399C>T, c.8418_8419insTCCC | p.Gln2467*, p.Ser2807fs | 43/52 | Compound heterozygous |
| T136 | M/24 | 24 | 0.01 | 0 | 0 | c.2438dupG | p.Gly813fs | 18 | Heterozygous |
| T141 | F/16 | 13 | 0.04 | 0.04 | 0.06 | c.817T>C | p.Arg273Trp | 7 | Homozygous |
| T143 | F/64 | 24 | 0.04 | 0.04 | 0.03 | c.8043_8044delAG | p.Arg2681fs | 49 | Heterozygous |
| T151 | M/27 | 29 | 0.02 | 0.04 | 0.01 | c.3939G>A, c.5842+1 G>C | p.Arg1313*, - | 28/34 | Compound heterozygous |
| T154 | M/16 | 24 | 0.01 | 0.03 | 0.01 | c.1656_1657insT, c.8418_8419insTCCC | p.Trp552fs, p.Ser2807fs | 14/52 | Compound heterozygous |
| T166 | M/20 | 10 | <0.10 | <0.10 | 0.06 | c.8418_8419insTCCC | p.Ser2807fs | 52 | Homozygous |