LOVD - Variant statistics summary

Variants per exon/intron
exon # variants percentage of variants per exon
00_up 33 0.98%
01_ex 103 3.06%
01_in 23 0.68%
02_ex 79 2.35%
02_in 31 0.92%
03_ex 59 1.75%
03_in 31 0.92%
04_ex 59 1.75%
04_in 20 0.59%
05_ex 9 0.27%
05_in 17 0.51%
06_ex 39 1.16%
06_in 59 1.75%
07_ex 73 2.17%
07_in 12 0.36%
08_ex 182 5.41%
08_in 20 0.59%
09_ex 49 1.46%
09_in 18 0.53%
10_ex 178 5.29%
10_in 17 0.51%
11_ex 96 2.85%
11_in 15 0.45%
12 1 0.03%
12_ex 70 2.08%
12_in 88 2.61%
13_ex 84 2.5%
13_in 28 0.83%
14_ex 178 5.29%
14_in 38 1.13%
15 1 0.03%
15_ex 89 2.64%
15_in 28 0.83%
16_ex 89 2.64%
16_in 35 1.04%
17 2 0.06%
17_ex 219 6.51%
17_in 43 1.28%
18_ex 194 5.76%
18_in 24 0.71%
19 1 0.03%
19_ex 108 3.21%
19_in 34 1.01%
1_ex 5 0.15%
02 2 0.06%
20 3 0.09%
20_ex 167 4.96%
20_in 24 0.71%
21 7 0.21%
21-23 1 0.03%
21_ex 83 2.47%
21_in 39 1.16%
22_ex 79 2.35%
22_in 26 0.77%
23_ex 162 4.81%
23_in 41 1.22%
24_ex 21 0.62%
24_in 46 1.37%
25_ex 22 0.65%
25_in 25 0.74%
26_ex 2 0.06%
26_in 3 0.09%
27_ex 1 0.03%
2_ex 8 0.24%
03 1 0.03%
3_ex 2 0.06%
4_ex 2 0.06%
05 1 0.03%
5_ex 1 0.03%
6_ex 2 0.06%
07 2 0.06%
08 3 0.09%
9_ex 1 0.03%
in_03 1 0.03%
in_22 1 0.03%
in_23 1 0.03%
Pro 1 0.03%
Prom 4 0.12%
total 3366 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 2211 33 1519 659 0 65.69%
deletions 762 3 647 112 0 22.64%
duplications 224 0 214 10 0 6.65%
insertions 103 1 86 16 0 3.06%
insertion/deletions 59 1 50 8 0 1.75%
2 variants in 1 allele 2 - - - - 0.06%
complex 5 - - - - 0.15%
totals 3366 38 2516 805 0 100%
Variants not observed: inversions, unknown

RNA variants
variant number percentages
deletions 4 0.12%
insertions 1 0.03%
splice variants 523 15.54%
complex 104 3.09%
unknown 2734 81.22%
total 3366 100%
Variants not observed: substitutions, duplications, insertion/deletions, inversions, 2 variants in 1 allele, no effect, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 271 predicted: 11 8.05%0.33%
deletions confirmed: 43 predicted: 3 1.28%0.09%
duplications confirmed: 4 predicted: 1 0.12%0.03%
insertions confirmed: 2 0.06%
insertion/deletions confirmed: 3 predicted: 2 0.09%0.06%
frame shifts confirmed: 463 predicted: 153 13.76%4.55%
nonsense confirmed: 1158 predicted: 63 34.4%1.87%
translation initiation variant confirmed: 3 0.09%
complex 273 8.11%
unknown 913 27.12%
total 3366 100%
Variants not observed: 2 variants in 1 allele, no protein variants, nonstop variants, silent


Legend: confirmed confirmed predicted predicted
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