LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
0- 161 0
02 8 / 173 bp 0.046242774566474
02i 3 / 1338 bp 0.0022421524663677
03 19 / 193 bp 0.098445595854922
03i 2 / 404 bp 0.004950495049505
04 6 / 44 bp 0.13636363636364
04i 5 / 390 bp 0.012820512820513
05 9 / 182 bp 0.049450549450549
05i 2 / 81 bp 0.024691358024691
06 8 / 131 bp 0.061068702290076
08i 4 / 159 bp 0.025157232704403
09 13 / 101 bp 0.12871287128713
09i 1 / 1091 bp 0.00091659028414299
10 12 / 77 bp 0.15584415584416
10i 4 / 96 bp 0.041666666666667
11 4 / 64 bp 0.0625
11i 2 / 107 bp 0.018691588785047
12 11 / 86 bp 0.12790697674419
13 17 / 111 bp 0.15315315315315
14 5 / 440 bp 0.011363636363636
14i 21 0
15 171 0
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 120 0 96 24 0 70.18%
deletions 31 0 29 2 0 18.13%
duplications 14 0 14 0 0 8.19%
insertions 3 0 3 0 0 1.75%
complex 3 - - - - 1.75%
totals 171 0 142 26 0 100%
Variants not observed: insertion/deletions, inversions, 2 variants in 1 allele, unknown

RNA variants
variant number percentages
unknown 170 99.42%
no effect 1 0.58%
total 171 100%
Variants not observed: substitutions, deletions, duplications, insertions, insertion/deletions, inversions, splice variants, 2 variants in 1 allele, complex, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 45 26.32%
deletions confirmed: 15 8.77%
duplications confirmed: 1 0.58%
insertions confirmed: 1 0.58%
frame shifts confirmed: 24 14.04%
nonsense confirmed: 51 29.82%
complex 4 2.34%
unknown 30 17.54%
total 171 100%
Variants not observed: insertion/deletions, 2 variants in 1 allele, no protein variants, nonstop variants, translation initiation variant, silent


Legend: confirmed confirmed predicted predicted