LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
00 261 0
02i 1 / 16479 bp 6.0683293889192E-5
02_06 41 0
02_09 11 0
02_14 21 0
02_15 11 0
02_17 11 0
02_18 11 0
03_04 51 0
03_05 11 0
03_10 21 0
03_13 11 0
03_16 11 0
03_17 11 0
03_20 11 0
03_23 51 0
03_5 11 0
05i 1 / 4388 bp 0.00022789425706472
05_06 11 0
05_07 21 0
05_08 11 0
05_12 11 0
05_18 11 0
05_23 11 0
06i 9 / 5865 bp 0.0015345268542199
06_07 31 0
06_09 41 0
06_12 21 0
06_14 11 0
06_15 11 0
06_23 21 0
07i 6 / 1912 bp 0.0031380753138075
07_10 11 0
07_12 21 0
07_14 11 0
07_17 21 0
07_19 41 0
08 23 / 77 bp 0.2987012987013
08i 22 / 196 bp 0.11224489795918
08i_9 21 0
08_12 31 0
08_14 51 0
08_15 21 0
08_17 21 0
09 29 / 226 bp 0.1283185840708
09i 11 / 1204 bp 0.0091362126245847
01 8 / 139 bp 0.057553956834532
10 45 / 234 bp 0.19230769230769
10i 3 / 1549 bp 0.0019367333763719
10_14 11 0
10_23 11 0
11 5 / 92 bp 0.054347826086957
11i 4 / 1000 bp 0.004
11_14 11 0
11_23 11 0
12 11 / 128 bp 0.0859375
12i 4 / 4362 bp 0.00091701054562127
12_15 31 0
12_23 11 0
13 7 / 155 bp 0.045161290322581
13i 2 / 546 bp 0.0036630036630037
13_14 41 0
13_17 11 0
13_21 11 0
14 3 / 135 bp 0.022222222222222
14i 6 / 8170 bp 0.000734394124847
15 29 / 195 bp 0.14871794871795
15i 4 / 1956 bp 0.0020449897750511
15_16 11 0
15_17 11 0
15_23 31 0
16 10 / 183 bp 0.054644808743169
16i 3 / 2022 bp 0.0014836795252226
16_17 11 0
17 3 / 217 bp 0.013824884792627
17i 5 / 5014 bp 0.00099720781810929
17_18 11 0
18 2 / 147 bp 0.013605442176871
18i 2 / 1608 bp 0.0012437810945274
18_20 11 0
19 5 / 143 bp 0.034965034965035
19i 3 / 1851 bp 0.0016207455429498
19_23 11 0
20 22 / 204 bp 0.1078431372549
20i 5 / 528 bp 0.009469696969697
20_23 31 0
21 10 / 118 bp 0.084745762711864
21i 5 / 2034 bp 0.0024582104228122
22 16 / 103 bp 0.15533980582524
22i 7 / 721 bp 0.0097087378640777
22i-23 11 0
22_23 31 0
23 3 / 4102 bp 0.0007313505607021
03 11 / 490 bp 0.022448979591837
04 18 / 726 bp 0.024793388429752
05 4 / 207 bp 0.019323671497585
06 5 / 164 bp 0.030487804878049
07 9 / 162 bp 0.055555555555556
i2i 11 0
1When exon/intron lengths are not available, only the numbers of variants are given

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 291 1 195 95 0 57.06%
deletions 142 19 113 10 0 27.84%
duplications 37 1 35 1 0 7.25%
insertions 8 0 8 0 0 1.57%
insertion/deletions 2 0 1 1 0 0.39%
inversions 2 0 2 0 0 0.39%
unknown 28 - - - - 5.49%
totals 510 21 354 107 0 100%
Variants not observed: 2 variants in 1 allele, complex

RNA variants
variant number percentages
substitutions 2 0.39%
deletions 63 12.35%
duplications 3 0.59%
insertions 2 0.39%
insertion/deletions 1 0.2%
2 variants in 1 allele 42 8.24%
complex 2 0.39%
unknown 395 77.45%
total 510 100%
Variants not observed: inversions, splice variants, no effect, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 3 predicted: 137 0.59%26.86%
deletions predicted: 3 0.59%
frame shifts predicted: 19 3.73%
nonsense predicted: 54 10.59%
translation initiation variant predicted: 2 0.39%
silent confirmed: 101 19.8%
complex 4 0.78%
unknown 187 36.67%
total 510 100%
Variants not observed: duplications, insertions, insertion/deletions, 2 variants in 1 allele, no protein variants, nonstop variants


Legend: confirmed confirmed predicted predicted