LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
00 501 0
01 5 / 143 bp 0.034965034965035
01-04 11 0
01i 48 / 6233 bp 0.0077009465746831
02 26 / 72 bp 0.36111111111111
02i 23 / 802 bp 0.028678304239401
03 195 / 89 bp 2.1910112359551
03i 6 / 4368 bp 0.0013736263736264
04 26 / 106 bp 0.24528301886792
04i 6 / 17775 bp 0.00033755274261603
05 11 / 60 bp 0.18333333333333
05i 24 / 1726 bp 0.013904982618772
05_06 11 0
06 124 / 92 bp 1.3478260869565
06i 1 / 2862 bp 0.00034940600978337
07 56 / 35 bp 1.6
07i 20 / 824 bp 0.024271844660194
08 250 / 80 bp 3.125
08i 7 / 606 bp 0.011551155115512
09 20 / 100 bp 0.2
09i 16 / 1823 bp 0.0087767416346681
10 128 / 125 bp 1.024
10i 3 / 2625 bp 0.0011428571428571
11 59 / 105 bp 0.56190476190476
11i 1 / 3007 bp 0.00033255736614566
12 52 / 127 bp 0.40944881889764
12i 16 / 5126 bp 0.0031213421771362
13 177 / 182 bp 0.97252747252747
13i 10 / 4617 bp 0.0021659085986571
13i14 61 0
14 20 / 358 bp 0.055865921787709
i9 11 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 1 0 0 1 0 100%
totals 1 0 0 1 0 100%
Variants not observed: deletions, duplications, insertions, insertion/deletions, inversions, 2 variants in 1 allele, complex, unknown

RNA variants
variant number percentages
unknown 1389 100%
total 1389 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: 877 0.07%63.14%
deletions predicted: 97 6.98%
insertions predicted: 3 0.22%
insertion/deletions predicted: 2 0.14%
frame shifts predicted: 272 19.58%
nonsense confirmed: 4 predicted: 16 0.29%1.15%
translation initiation variant predicted: 4 0.29%
unknown 113 8.14%
total 1389 100%
Variants not observed: duplications, 2 variants in 1 allele, no protein variants, nonstop variants, silent, complex


Legend: confirmed confirmed predicted predicted