LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
00 391 0
01 4 / 475 bp 0.0084210526315789
01-04 11 0
01i 20 / 6233 bp 0.0032087277394513
02 21 / 72 bp 0.29166666666667
02i 21 / 802 bp 0.026184538653367
03 100 / 89 bp 1.123595505618
03i 6 / 4368 bp 0.0013736263736264
04 17 / 106 bp 0.16037735849057
04i 6 / 17775 bp 0.00033755274261603
05 7 / 60 bp 0.11666666666667
05i 20 / 1726 bp 0.011587485515643
05_06 11 0
06 83 / 92 bp 0.90217391304348
06i 1 / 2862 bp 0.00034940600978337
07 43 / 35 bp 1.2285714285714
07i 17 / 824 bp 0.020631067961165
08 130 / 80 bp 1.625
08i 4 / 606 bp 0.0066006600660066
09 16 / 100 bp 0.16
09i 13 / 1823 bp 0.0071311025781679
10 67 / 125 bp 0.536
10i 1 / 2625 bp 0.00038095238095238
11 43 / 105 bp 0.40952380952381
11i 1 / 3007 bp 0.00033255736614566
12 44 / 127 bp 0.34645669291339
12i 6 / 5126 bp 0.0011705033164261
13 140 / 182 bp 0.76923076923077
13i 6 / 4617 bp 0.0012995451591943
13i14 21 0
14 14 / 362 bp 0.038674033149171
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 12 0 7 5 0 92.31%
deletions 1 0 0 1 0 7.69%
totals 13 0 7 6 0 100%
Variants not observed: duplications, insertions, insertion/deletions, inversions, 2 variants in 1 allele, complex, unknown

RNA variants
variant number percentages
unknown 894 100%
total 894 100%
Variants not observed: substitutions, deletions, duplications, insertions, insertion/deletions, inversions, splice variants, 2 variants in 1 allele, complex, no effect, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 1 predicted: 565 0.11%63.2%
deletions predicted: 61 6.82%
insertions predicted: 1 0.11%
insertion/deletions predicted: 1 0.11%
frame shifts predicted: 155 17.34%
nonsense confirmed: 4 predicted: 13 0.45%1.45%
translation initiation variant predicted: 2 0.22%
unknown 91 10.18%
total 894 100%
Variants not observed: duplications, 2 variants in 1 allele, no protein variants, nonstop variants, silent, complex


Legend: confirmed confirmed predicted predicted