LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
00 21 0
0- 21 0
0-Dp427c 1181 0
0-Dp427l 11 0
0-Dp427m 81 0
01 67 / 275 bp 0.243636363636
10 36 / 189 bp 0.190476190476
10i 35 / 650 bp 0.0538461538462
11 39 / 182 bp 0.214285714286
11i 618 / 29678 bp 0.0208235056271
12 39 / 151 bp 0.258278145695
12i 813 / 18426 bp 0.0441224356887
13 43 / 120 bp 0.358333333333
13i 44 / 21910 bp 0.00200821542675
14 197 / 102 bp 1.93137254902
14i 108 / 107 bp 1.00934579439
15 24 / 108 bp 0.222222222222
15i 89 / 7648 bp 0.0116370292887
16 71 / 180 bp 0.394444444444
16i 521 / 20367 bp 0.0255805960623
16i_17 11 0
17 36 / 176 bp 0.204545454545
17i 1128 / 27027 bp 0.041736041736
17i_18 11 0
18 40 / 124 bp 0.322580645161
18i 182 / 16165 bp 0.0112588926693
19 42 / 88 bp 0.477272727273
19i 30 / 10236 bp 0.00293083235639
01i 96 / 191081 bp 0.000502404739351
1_79 331 0
02 19 / 62 bp 0.306451612903
20 83 / 242 bp 0.342975206612
20i 46 / 6177 bp 0.00744698073498
21 375 / 181 bp 2.07182320442
21i 44 / 12609 bp 0.00348957094139
22 31 / 146 bp 0.212328767123
22i 37 / 3453 bp 0.0107153200116
22i_24i 21 0
23 106 / 213 bp 0.49765258216
23i 377 / 3798 bp 0.0992627698789
24 36 / 114 bp 0.315789473684
24i 310 / 991 bp 0.312815338042
25 55 / 156 bp 0.352564102564
25i 26 / 8606 bp 0.00302114803625
26 44 / 171 bp 0.25730994152
26i 61 / 6023 bp 0.0101278432675
27 61 / 183 bp 0.333333333333
27i 279 / 7141 bp 0.0390701582411
28 25 / 135 bp 0.185185185185
28i 525 / 2789 bp 0.18823951237
29 40 / 150 bp 0.266666666667
29i 259 / 26327 bp 0.00983780909333
02i 456 / 170318 bp 0.00267734473162
03 43 / 93 bp 0.462365591398
30 51 / 162 bp 0.314814814815
30i 93 / 21570 bp 0.00431154381085
31 22 / 111 bp 0.198198198198
31i 13 / 396 bp 0.0328282828283
32 77 / 174 bp 0.442528735632
32i 450 / 3035 bp 0.148270181219
33 30 / 156 bp 0.192307692308
33i 285 / 5629 bp 0.0506306626399
34 52 / 171 bp 0.304093567251
34i 225 / 15310 bp 0.0146962769432
35 66 / 180 bp 0.366666666667
35i 359 / 309 bp 1.16181229773
36 35 / 129 bp 0.271317829457
36i 290 / 1623 bp 0.178681454097
37 490 / 171 bp 2.86549707602
37i 52 / 14259 bp 0.00364681955256
38 29 / 123 bp 0.235772357724
38i 498 / 2325 bp 0.214193548387
39 52 / 138 bp 0.376811594203
39i 862 / 2656 bp 0.324548192771
03i 117 / 4867 bp 0.0240394493528
04 21 / 78 bp 0.269230769231
40 49 / 153 bp 0.320261437908
40i 177 / 851 bp 0.207990599295
41 55 / 183 bp 0.300546448087
41i 658 / 31823 bp 0.0206768689313
42 21 / 195 bp 0.107692307692
42i 251 / 22380 bp 0.0112153708668
43 42 / 173 bp 0.242774566474
43i 245 / 70465 bp 0.00347690342723
44 56 / 148 bp 0.378378378378
44i 970 / 248401 bp 0.00390497622795
45 123 / 176 bp 0.698863636364
45i 261 / 36111 bp 0.00722771454681
46 15 / 148 bp 0.101351351351
46i 75 / 2334 bp 0.0321336760925
47 40 / 150 bp 0.266666666667
47i 220 / 54222 bp 0.00405739367784
48 387 / 186 bp 2.08064516129
48i 314 / 38368 bp 0.00818390325271
49 15 / 102 bp 0.147058823529
49i 425 / 16634 bp 0.0255500781532
04i 148 / 21395 bp 0.00691750408974
05 25 / 93 bp 0.268817204301
50 8 / 109 bp 0.0733944954128
50i 243 / 45782 bp 0.00530776287624
51 23 / 233 bp 0.0987124463519
51i 122 / 44211 bp 0.00275949424351
52 35 / 118 bp 0.296610169492
52i 22 / 50044 bp 0.000439613140436
53 330 / 212 bp 1.55660377358
53i 4 / 21230 bp 0.000188412623646
54 18 / 155 bp 0.116129032258
54i 353 / 30127 bp 0.0117170644273
55 54 / 190 bp 0.284210526316
55i 239 / 120219 bp 0.00198803849641
56 34 / 173 bp 0.196531791908
56i 359 / 10336 bp 0.0347329721362
57 23 / 157 bp 0.146496815287
57i 252 / 17684 bp 0.0142501696449
58 45 / 121 bp 0.371900826446
58i 116 / 608 bp 0.190789473684
59 265 / 269 bp 0.985130111524
59i 48 / 33478 bp 0.00143377740606
05i 305 / 6654 bp 0.0458370904719
06 83 / 173 bp 0.479768786127
60 34 / 147 bp 0.231292517007
60i 197 / 95846 bp 0.00205538050623
61 28 / 79 bp 0.354430379747
61i 180 / 24897 bp 0.00722978672129
62 27 / 61 bp 0.44262295082
62i 186 / 62581 bp 0.00297214809607
63 9 / 62 bp 0.145161290323
63i 21 / 37833 bp 0.000555070969788
64 29 / 75 bp 0.386666666667
64i 558 / 13347 bp 0.0418071476736
65 60 / 202 bp 0.29702970297
65i 279 / 2830 bp 0.0985865724382
66 45 / 86 bp 0.523255813953
66i 369 / 2463 bp 0.149817295981
67 20 / 158 bp 0.126582278481
67i 214 / 21056 bp 0.0101633738602
68 35 / 167 bp 0.209580838323
68i 1120 / 2256 bp 0.496453900709
69 36 / 112 bp 0.321428571429
69i 34 / 1564 bp 0.0217391304348
06i 18 / 6856 bp 0.00262543757293
07 61 / 119 bp 0.512605042017
70 133 / 137 bp 0.970802919708
70i 35 / 698 bp 0.0501432664756
71 14 / 39 bp 0.358974358974
71i 127 / 4327 bp 0.0293505893229
72 3 / 66 bp 0.0454545454545
72i 194 / 1125 bp 0.172444444444
73 4 / 66 bp 0.0606060606061
73i 101 / 2746 bp 0.036780772032
74 60 / 159 bp 0.377358490566
74i 139 / 21924 bp 0.00634008392629
75 42 / 244 bp 0.172131147541
75i 154 / 860 bp 0.179069767442
76 13 / 124 bp 0.104838709677
76i 35 / 12096 bp 0.00289351851852
77 1 / 93 bp 0.010752688172
77i 20 / 7428 bp 0.00269251480883
78 3 / 32 bp 0.09375
78i 162 / 4711 bp 0.0343876034812
79 863 / 2703 bp 0.319274879763
07i 383 / 110199 bp 0.00347553063095
08 76 / 182 bp 0.417582417582
08i 109 / 1113 bp 0.0979335130279
09 70 / 129 bp 0.542635658915
09i 175 / 52717 bp 0.00331961226929
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 20389 120 4065 16002 202 78.41%
deletions 2514 3 626 1670 215 9.67%
duplications 2133 6 208 1560 359 8.2%
insertions 466 2 26 434 4 1.79%
insertion/deletions 97 0 56 41 0 0.37%
inversions 2 0 0 2 0 0.01%
2 variants in 1 allele 202 - - - - 0.78%
complex 117 - - - - 0.45%
unknown 82 - - - - 0.32%
totals 26002 131 4981 19709 780 100%

RNA variants
variant number percentages
substitutions 654 2.52%
deletions 221 0.85%
duplications 30 0.12%
insertions 33 0.13%
insertion/deletions 13 0.05%
splice variants 52 0.2%
2 variants in 1 allele 18 0.07%
complex 152 0.58%
unknown 24803 95.39%
no effect 3 0.01%
no RNA produced 23 0.09%
total 26002 100%
Variants not observed: inversions

Protein variants
variant number percentages
substitutions confirmed: 155 predicted: 1692 0.6%6.51%
deletions confirmed: 29 predicted: 39 0.11%0.15%
duplications predicted: 1
insertions confirmed: 1
insertion/deletions confirmed: 3 predicted: 3 0.01%0.01%
2 variants in 1 allele confirmed: 11 0.04%
frame shifts confirmed: 288 predicted: 630 1.11%2.42%
no protein variants confirmed: 23 0.09%
nonsense confirmed: 355 predicted: 1199 1.37%4.61%
translation initiation variant predicted: 2 0.01%
silent confirmed: 216 0.83%
complex 20799 79.99%
unknown 556 2.14%
total 26002 100%
Variants not observed: nonstop variants


Legend: confirmed confirmed predicted predicted