LOVD - Variant statistics summary

Variants per exon/intron
exon # variants percentage of variants per exon
00 38 3.25%
01 4 0.34%
01-04 1 0.09%
01i 34 2.91%
02 26 2.22%
02i 21 1.8%
03 178 15.23%
03i 6 0.51%
04 22 1.88%
04i 6 0.51%
05 10 0.86%
05i 22 1.88%
05_06 1 0.09%
06 94 8.04%
06i 1 0.09%
07 52 4.45%
07i 17 1.45%
08 166 14.2%
08i 6 0.51%
09 18 1.54%
09i 16 1.37%
10 106 9.07%
10i 1 0.09%
11 54 4.62%
11i 1 0.09%
12 52 4.45%
12i 15 1.28%
13 168 14.37%
13i 8 0.68%
13i14 6 0.51%
14 19 1.63%
total 1169 100%

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
totals 0 0 0 0 0 100%
Variants not observed: substitutions, deletions, duplications, insertions, insertion/deletions, inversions, 2 variants in 1 allele, complex, unknown

RNA variants
variant number percentages
unknown 1169 100%
total 1169 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: 715 0.09%61.16%
deletions predicted: 79 6.76%
insertions predicted: 3 0.26%
insertion/deletions predicted: 2 0.17%
frame shifts predicted: 253 21.64%
nonsense confirmed: 4 predicted: 14 0.34%1.2%
translation initiation variant predicted: 2 0.17%
unknown 96 8.21%
total 1169 100%
Variants not observed: duplications, 2 variants in 1 allele, no protein variants, nonstop variants, silent, complex


Legend: confirmed confirmed predicted predicted