LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
00 11 0
01 6 / 593 bp 0.010118043844857
10 1 / 87 bp 0.011494252873563
11 3 / 2377 bp 0.0012620950778292
01i 1 / 3442 bp 0.00029052876234747
1_11 31 0
02 107 / 169 bp 0.63313609467456
03 66 / 198 bp 0.33333333333333
03i 4 / 28606 bp 0.00013983080472628
04 16 / 86 bp 0.18604651162791
04i 1 / 1662 bp 0.00060168471720818
05 7 / 120 bp 0.058333333333333
07 22 / 176 bp 0.125
07i 7 / 2504 bp 0.0027955271565495
08 12 / 127 bp 0.094488188976378
09 3 / 102 bp 0.029411764705882
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 134 0 120 14 0 51.54%
deletions 46 7 39 0 0 17.69%
duplications 78 0 78 0 0 30%
insertion/deletions 1 0 1 0 0 0.38%
2 variants in 1 allele 1 - - - - 0.38%
totals 260 7 238 14 0 100%
Variants not observed: insertions, inversions, complex, unknown

RNA variants
variant number percentages
unknown 260 100%
total 260 100%
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 predicted: 80 30.77%
deletions predicted: 3 1.15%
duplications predicted: 17 6.54%
frame shifts predicted: 97 37.31%
nonsense predicted: 39 15%
complex 15 5.77%
unknown 9 3.46%
total 260 100%
Variants not observed: insertions, insertion/deletions, 2 variants in 1 allele, no protein variants, nonstop variants, translation initiation variant, silent


Legend: confirmed confirmed predicted predicted