LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
00 381 0
01 4 / 475 bp 0.0084210526315789
01i 17 / 6233 bp 0.0027274185785336
02 13 / 72 bp 0.18055555555556
02i 19 / 802 bp 0.023690773067332
03 89 / 89 bp 1
03i 6 / 4368 bp 0.0013736263736264
04 14 / 106 bp 0.13207547169811
04i 6 / 17775 bp 0.00033755274261603
05 5 / 60 bp 0.083333333333333
05i 19 / 1726 bp 0.011008111239861
06 83 / 92 bp 0.90217391304348
06i 1 / 2862 bp 0.00034940600978337
07 37 / 35 bp 1.0571428571429
07i 17 / 824 bp 0.020631067961165
08 118 / 80 bp 1.475
08i 3 / 606 bp 0.004950495049505
09 13 / 100 bp 0.13
09i 11 / 1823 bp 0.0060340098738343
10 62 / 125 bp 0.496
11 39 / 105 bp 0.37142857142857
11i 1 / 3007 bp 0.00033255736614566
12 37 / 127 bp 0.29133858267717
12i 6 / 5126 bp 0.0011705033164261
13 129 / 182 bp 0.70879120879121
13i 6 / 4617 bp 0.0012995451591943
14 12 / 362 bp 0.033149171270718
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 26 0 24 2 0 100%
totals 26 0 24 2 0 100%
Variants not observed: deletions, duplications, insertions, insertion/deletions, inversions, 2 variants in 1 allele, complex, unknown

RNA variants
variant number percentages
unknown 805 100%
total 805 100%
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: 512 0.12%63.6%
deletions predicted: 54 6.71%
frame shifts predicted: 142 17.64%
nonsense confirmed: 4 predicted: 11 0.5%1.37%
translation initiation variant predicted: 2 0.25%
unknown 79 9.81%
total 805 100%
Variants not observed: duplications, insertions, insertion/deletions, 2 variants in 1 allele, no protein variants, nonstop variants, silent, complex


Legend: confirmed confirmed predicted predicted