LOVD - Variant statistics summary

Variants per exon/intron
exon # variants percentage of variants per exon
00_up 33 0.97%
01_ex 103 3.04%
01_in 23 0.68%
02_ex 79 2.33%
02_in 31 0.91%
03_ex 59 1.74%
03_in 31 0.91%
04_ex 59 1.74%
04_in 20 0.59%
05_ex 9 0.27%
05_in 17 0.5%
06_ex 39 1.15%
06_in 59 1.74%
07_ex 73 2.15%
07_in 12 0.35%
08_ex 184 5.43%
08_in 20 0.59%
09_ex 49 1.45%
09_in 18 0.53%
10_ex 178 5.25%
10_in 17 0.5%
11 1 0.03%
11_ex 96 2.83%
11_in 15 0.44%
12 1 0.03%
12_ex 70 2.06%
12_in 88 2.6%
13_ex 84 2.48%
13_in 28 0.83%
14 1 0.03%
14_ex 178 5.25%
14_in 38 1.12%
15 1 0.03%
15_ex 89 2.63%
15_in 28 0.83%
16_ex 89 2.63%
16_in 35 1.03%
17 4 0.12%
17_ex 219 6.46%
17_in 43 1.27%
18_ex 195 5.75%
18_in 24 0.71%
19 3 0.09%
19_ex 108 3.19%
19_in 35 1.03%
1_ex 5 0.15%
02 2 0.06%
20 5 0.15%
20_ex 169 4.99%
20_in 25 0.74%
21 8 0.24%
21-23 1 0.03%
21_ex 83 2.45%
21_in 39 1.15%
22_ex 79 2.33%
22_in 26 0.77%
23_ex 162 4.78%
23_in 41 1.21%
24_ex 21 0.62%
24_in 46 1.36%
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 2 0.06%
3_ex 2 0.06%
04 1 0.03%
4_ex 2 0.06%
05 1 0.03%
5_ex 1 0.03%
6_ex 2 0.06%
07 6 0.18%
08 3 0.09%
9_ex 1 0.03%
in_03 1 0.03%
in_22 1 0.03%
in_23 1 0.03%
IVS19 1 0.03%
IVS25 1 0.03%
Pro 1 0.03%
Prom 4 0.12%
total 3390 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 2228 33 1531 664 0 65.72%
deletions 767 3 650 114 0 22.63%
duplications 224 0 214 10 0 6.61%
insertions 105 1 88 16 0 3.1%
insertion/deletions 59 1 50 8 0 1.74%
2 variants in 1 allele 2 - - - - 0.06%
complex 5 - - - - 0.15%
totals 3390 38 2533 812 0 100%
Variants not observed: inversions, unknown

RNA variants
variant number percentages
substitutions 2 0.06%
deletions 9 0.27%
insertions 1 0.03%
splice variants 525 15.49%
complex 106 3.13%
unknown 2747 81.03%
total 3390 100%
Variants not observed: duplications, insertion/deletions, inversions, 2 variants in 1 allele, no effect, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 275 predicted: 12 8.11%0.35%
deletions confirmed: 43 predicted: 3 1.27%0.09%
duplications confirmed: 4 predicted: 1 0.12%0.03%
insertions confirmed: 3 0.09%
insertion/deletions confirmed: 3 predicted: 3 0.09%0.09%
frame shifts confirmed: 466 predicted: 157 13.75%4.63%
nonsense confirmed: 1160 predicted: 65 34.22%1.92%
translation initiation variant confirmed: 3 0.09%
complex 275 8.11%
unknown 917 27.05%
total 3390 100%
Variants not observed: 2 variants in 1 allele, no protein variants, nonstop variants, silent


Legend: confirmed confirmed predicted predicted
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