Please note: As part of the EAHAD-CFDB initiative the LOVDv2 VWF database is being upgraded to a LOVDv3 VWF database. Data currently resides in both versions, but the data contained in the LOVDv2 VWF database will be transferred to the new LOVDv3 VWF database in due course.
LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
0- 271 0
-_* 91 0
-_3i 131 0
-_6i 21 0
10 5 / 47 bp 0.1063829787234
11 11 / 137 bp 0.08029197080292
12 6 / 139 bp 0.043165467625899
13 5 / 101 bp 0.04950495049505
13i 2 / 4909 bp 0.00040741495212874
13i_14 21 0
13i_15i 11 0
14 27 / 196 bp 0.13775510204082
14i 1 / 776 bp 0.0012886597938144
15 22 / 216 bp 0.10185185185185
15i 5 / 4073 bp 0.0012275963663148
15i_43i 21 0
16 9 / 241 bp 0.037344398340249
17 8 / 95 bp 0.084210526315789
17i 3 / 2271 bp 0.0013210039630119
18 107 / 161 bp 0.66459627329193
18i_20i 11 0
19 45 / 104 bp 0.43269230769231
19i 2 / 1561 bp 0.0012812299807816
01i 3 / 1224 bp 0.0024509803921569
02 4 / 55 bp 0.072727272727273
20 73 / 139 bp 0.52517985611511
20i 2 / 3109 bp 0.00064329366355741
21 19 / 135 bp 0.14074074074074
21i 1 / 1955 bp 0.00051150895140665
22 9 / 147 bp 0.061224489795918
22i_* 21 0
23 9 / 141 bp 0.063829787234043
23i 2 / 212 bp 0.0094339622641509
24 12 / 114 bp 0.10526315789474
24i 1 / 1792 bp 0.00055803571428571
25 26 / 157 bp 0.1656050955414
25i 5 / 732 bp 0.0068306010928962
25i_34i 21 0
26 48 / 159 bp 0.30188679245283
26i 3 / 704 bp 0.0042613636363636
27 40 / 136 bp 0.29411764705882
27i 1 / 2156 bp 0.00046382189239332
27i_28 11 0
28 647 / 1379 bp 0.46918056562727
28i 2 / 1494 bp 0.001338688085676
29 3 / 117 bp 0.025641025641026
29i 3 / 97 bp 0.030927835051546
02i 4 / 1803 bp 0.0022185246810871
03 14 / 165 bp 0.084848484848485
30 10 / 141 bp 0.070921985815603
30i 4 / 283 bp 0.014134275618375
31 12 / 144 bp 0.083333333333333
31i 2 / 2443 bp 0.00081866557511257
32 13 / 165 bp 0.078787878787879
32i 2 / 1350 bp 0.0014814814814815
32i_38i 11 0
33i 1 / 292 bp 0.0034246575342466
34 2 / 178 bp 0.01123595505618
34i 4 / 15394 bp 0.00025984149668702
34i_38i 11 0
35 7 / 221 bp 0.031674208144796
35i 2 / 1394 bp 0.0014347202295552
36 12 / 193 bp 0.062176165803109
37 17 / 342 bp 0.049707602339181
38 8 / 200 bp 0.04
38i 2 / 6153 bp 0.00032504469364538
39 4 / 103 bp 0.038834951456311
39i 1 / 443 bp 0.0022573363431151
03i 3 / 10205 bp 0.00029397354238119
3i_5i 161 0
04 7 / 103 bp 0.067961165048544
40 4 / 75 bp 0.053333333333333
40i 6 / 1790 bp 0.0033519553072626
41 4 / 105 bp 0.038095238095238
41i 4 / 1158 bp 0.003454231433506
42 21 / 206 bp 0.10194174757282
42i 4 / 5525 bp 0.00072398190045249
43 23 / 150 bp 0.15333333333333
44 3 / 111 bp 0.027027027027027
44i 3 / 2207 bp 0.0013593112822836
45 32 / 181 bp 0.1767955801105
45i 5 / 1043 bp 0.0047938638542665
46 4 / 41 bp 0.097560975609756
46i 5 / 524 bp 0.0095419847328244
47i 2 / 13891 bp 0.00014397811532647
48 4 / 99 bp 0.04040404040404
49 9 / 129 bp 0.069767441860465
49i 6 / 507 bp 0.011834319526627
05 17 / 209 bp 0.08133971291866
50 3 / 40 bp 0.075
50i 1 / 1960 bp 0.00051020408163265
51 7 / 98 bp 0.071428571428571
51i 2 / 582 bp 0.0034364261168385
52 110 / 330 bp 0.33333333333333
05i 4 / 14789 bp 0.00027047129623369
5i_16i 21 0
06 4 / 125 bp 0.032
06i 1 / 19908 bp 5.0231062889291E-5
07 16 / 217 bp 0.073732718894009
07i 5 / 1593 bp 0.0031387319522913
08 8 / 123 bp 0.065040650406504
08i 1 / 1176 bp 0.00085034013605442
09 10 / 112 bp 0.089285714285714
09i 5 / 987 bp 0.0050658561296859
0? 21 0
1When exon/intron lengths are not available, only the numbers of variants are given

Warning Please note that numbers shown hereafter can deviate from the numbers when you click on a variant link. Reasons for these differences can be that a variant is reported more than once (see # Reported field) or a homozygous variant.

DNA variants
variant number location percentages
    5'start coding intron 3'stop
substitutions 1406 29 1237 139 1 83%
deletions 195 9 144 42 0 11.51%
duplications 55 0 53 2 0 3.25%
insertions 13 0 13 0 0 0.77%
insertion/deletions 9 0 8 1 0 0.53%
complex 13 - - - - 0.77%
unknown 3 - - - - 0.18%
totals 1694 38 1455 184 1 100%
Variants not observed: inversions, 2 variants in 1 allele

RNA variants
variant number percentages
substitutions 7 0.41%
deletions 7 0.41%
complex 4 0.23%
unknown 1701 98.95%
total 1719 100%
Variants not observed: duplications, insertions, insertion/deletions, inversions, splice variants, 2 variants in 1 allele, no effect, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 16 predicted: 962 0.93%55.96%
deletions confirmed: 1 predicted: 32 0.06%1.86%
duplications predicted: 4 0.23%
insertions predicted: 2 0.12%
insertion/deletions confirmed: 1 predicted: 1 0.06%0.06%
2 variants in 1 allele confirmed: 8 predicted: 21 0.47%1.22%
frame shifts confirmed: 65 predicted: 99 3.78%5.76%
nonsense confirmed: 5 predicted: 130 0.29%7.56%
translation initiation variant predicted: 1 0.06%
silent confirmed: 82 4.77%
complex 147 8.55%
unknown 142 8.26%
total 1719 100%
Variants not observed: no protein variants, nonstop variants


Legend: confirmed confirmed predicted predicted
Please note: As part of the EAHAD-CFDB initiative the LOVDv2 VWF database is being upgraded to a LOVDv3 VWF database. Data currently resides in both versions, but the data contained in the LOVDv2 VWF database will be transferred to the new LOVDv3 VWF database in due course.