IP-1
|
2A/2B
|
c.164G>A
c.4019T>G
|
p.Gly55Glu
p.Leu1340Arg
|
D1 (VWD1)
A1
|
12
|
7
|
42
|
Loss of large multimers, normal triplet structure
|
IP-2 |
3 |
c.257T>A |
p.Val86Glu |
D1 (VWD1) |
1 |
1 |
3 |
No multimer |
IP-3
|
2A/2B
|
c.571T>C
c.3797C>T
|
p.Trp191Arg
p.Pro1266Leu
|
D1 (VWD1)
A1
|
29
|
16*
|
74
|
Loss of large multimers, increased abundance of the fastest migrating
band in the triplet structure
|
IP-4
|
3
|
c.631A>G
c.3931C>T
|
p.Asn211Asp
p.Gln1311X
|
D1 (C8-1)
A1
|
1
|
2
|
3
|
No multimer
|
IP-5
|
1/2N
|
c.1001G>A
c.970C>T
c.2561G>A
|
p.Gly334Glu
p.Arg324X
p.Arg854Gln
|
D1 (TIL1)
D1 (TIL1)
D´ (E´)
|
35
|
39
|
22
|
Normal
|
IP-6 |
3 |
c.1824C>G |
p.Cys608Trp |
D2 (C8-2) |
1 |
1 |
4 |
No multimer |