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 52 / 6233 bp 0.0083426921225734
02 26 / 72 bp 0.36111111111111
02i 23 / 802 bp 0.028678304239401
03 196 / 89 bp 2.2022471910112
03i 6 / 4368 bp 0.0013736263736264
04 27 / 106 bp 0.25471698113208
04i 6 / 17775 bp 0.00033755274261603
05 12 / 60 bp 0.2
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
08 258 / 80 bp 3.225
08i 7 / 606 bp 0.011551155115512
09 21 / 100 bp 0.21
09i 18 / 1823 bp 0.0098738343390016
10 128 / 125 bp 1.024
10i 3 / 2625 bp 0.0011428571428571
11 60 / 105 bp 0.57142857142857
11i 1 / 3007 bp 0.00033255736614566
12 52 / 127 bp 0.40944881889764
12i 18 / 5126 bp 0.0035115099492782
13 183 / 182 bp 1.0054945054945
13i 10 / 4617 bp 0.0021659085986571
13i14 61 0
14 20 / 358 bp 0.055865921787709
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 1 0 0 100%
totals 1 0 1 0 0 100%
Variants not observed: deletions, duplications, insertions, insertion/deletions, inversions, 2 variants in 1 allele, complex, unknown

RNA variants
variant number percentages
unknown 1415 100%
total 1415 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: 889 0.07%62.83%
deletions predicted: 99 7%
duplications predicted: 1 0.07%
insertions predicted: 3 0.21%
insertion/deletions predicted: 2 0.14%
frame shifts predicted: 277 19.58%
nonsense confirmed: 6 predicted: 19 0.42%1.34%
translation initiation variant predicted: 4 0.28%
unknown 114 8.06%
total 1415 100%
Variants not observed: 2 variants in 1 allele, no protein variants, nonstop variants, silent, complex


Legend: confirmed confirmed predicted predicted