LOVD - Variant statistics summary

Variants per exon/intron
exon # variants percentage of variants per exon
00_up 31 1.15%
01_ex 78 2.9%
01_in 19 0.71%
02_ex 62 2.31%
02_in 26 0.97%
03_ex 49 1.82%
03_in 29 1.08%
04_ex 48 1.79%
04_in 17 0.63%
05_ex 8 0.3%
05_in 11 0.41%
06_ex 24 0.89%
06_in 55 2.05%
07_ex 52 1.93%
07_in 10 0.37%
08_ex 160 5.95%
08_in 14 0.52%
09_ex 33 1.23%
09_in 13 0.48%
10_ex 166 6.17%
10_in 15 0.56%
11_ex 87 3.24%
11_in 12 0.45%
12_ex 51 1.9%
12_in 84 3.12%
13_ex 64 2.38%
13_in 24 0.89%
14 1 0.04%
14_ex 158 5.88%
14_in 36 1.34%
15_ex 74 2.75%
15_in 24 0.89%
16_ex 67 2.49%
16_in 25 0.93%
17 1 0.04%
17_ex 184 6.84%
17_in 40 1.49%
18 1 0.04%
18_ex 155 5.76%
18_in 18 0.67%
19 3 0.11%
19_ex 81 3.01%
19_in 29 1.08%
20 1 0.04%
20_ex 118 4.39%
20_in 19 0.71%
21 3 0.11%
21-23 1 0.04%
21_ex 61 2.27%
21_in 31 1.15%
22_ex 50 1.86%
22_in 19 0.71%
23_ex 117 4.35%
23_in 35 1.3%
24_ex 10 0.37%
24_in 42 1.56%
25_ex 13 0.48%
25_in 21 0.78%
26_ex 1 0.04%
26_in 2 0.07%
27_ex 1 0.04%
03 1 0.04%
05 1 0.04%
07 1 0.04%
08 1 0.04%
in_23 1 0.04%
total 2689 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 1932 26 1327 579 0 71.85%
deletions 531 3 446 82 0 19.75%
duplications 137 0 130 7 0 5.09%
insertions 55 1 43 11 0 2.05%
insertion/deletions 29 1 25 3 0 1.08%
2 variants in 1 allele 1 - - - - 0.04%
complex 4 - - - - 0.15%
totals 2689 31 1971 682 0 100%
Variants not observed: inversions, unknown

RNA variants
variant number percentages
deletions 4 0.15%
splice variants 469 17.44%
complex 90 3.35%
unknown 2126 79.06%
total 2689 100%
Variants not observed: substitutions, duplications, insertions, insertion/deletions, inversions, 2 variants in 1 allele, no effect, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 224 8.33%
deletions confirmed: 38 predicted: 1 1.41%0.04%
duplications confirmed: 4 0.15%
frame shifts confirmed: 384 predicted: 6 14.28%0.22%
nonsense confirmed: 1117 41.54%
translation initiation variant confirmed: 3 0.11%
complex 269 10%
unknown 643 23.91%
total 2689 100%
Variants not observed: insertions, insertion/deletions, 2 variants in 1 allele, no protein variants, nonstop variants, silent


Legend: confirmed confirmed predicted predicted
Please help to improve the quality of the data and report any error that you may find!