LOVD - Variant statistics summary

Variants per exon
exon # variants percentage of variants per exon
01 12 3.05%
02 64 16.24%
03 23 5.84%
04 50 12.69%
05 40 10.15%
06 57 14.47%
07 45 11.42%
08 72 18.27%
09 7 1.78%
10 21 5.33%
11 3 0.76%
total 394 100%

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
substitutions 365 11 343 8 3 92.64%
deletions 20 0 16 4 0 5.08%
duplications 1 0 0 1 0 0.25%
insertions 3 0 3 0 0 0.76%
insertion/deletions 1 0 1 0 0 0.25%
complex 1 - - - - 0.25%
unknown 3 - - - - 0.76%
totals 394 11 363 13 3 100%
Variants not observed: inversions, 2 variants in 1 allele

RNA variants
variant number percentages
complex 2 0.51%
unknown 392 99.49%
total 394 100%
Variants not observed: substitutions, deletions, duplications, insertions, insertion/deletions, inversions, splice variants, 2 variants in 1 allele, no effect, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 306 77.66%
deletions confirmed: 11 2.79%
insertions confirmed: 2 0.51%
2 variants in 1 allele confirmed: 2 0.51%
frame shifts confirmed: 5 1.27%
nonsense confirmed: 11 2.79%
translation initiation variant confirmed: 3 0.76%
complex 7 1.78%
unknown 47 11.93%
total 394 100%
Variants not observed: duplications, insertion/deletions, no protein variants, nonstop variants, silent


Legend: confirmed confirmed predicted predicted