LOVD - Variant statistics summary

Variants per exon/intron
exon variants/length
01 9 / 689 bp 0.013062409288824
01i 1 / 27139 bp 3.6847341464313E-5
02 31 / 191 bp 0.16230366492147
02i 1 / 2454 bp 0.00040749796251019
03 12 / 200 bp 0.06
03i 1 / 130 bp 0.0076923076923077
04 15 / 198 bp 0.075757575757576
04i 6 / 174 bp 0.03448275862069
05 25 / 173 bp 0.14450867052023
06 46 / 167 bp 0.27544910179641
06i 11 / 192 bp 0.057291666666667
07 12 / 79 bp 0.15189873417722
07i 14 / 86 bp 0.16279069767442
08 23 / 213 bp 0.10798122065728
09 4 / 383 bp 0.010443864229765

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 168 0 136 32 0 79.62%
deletions 34 0 30 4 0 16.11%
insertions 7 0 7 0 0 3.32%
insertion/deletions 2 0 2 0 0 0.95%
totals 211 0 175 36 0 100%
Variants not observed: duplications, inversions, 2 variants in 1 allele, complex, unknown

RNA variants
variant number percentages
unknown 211 100%
total 211 100%
Variants not observed: substitutions, deletions, duplications, insertions, insertion/deletions, inversions, splice variants, 2 variants in 1 allele, complex, no effect, no RNA produced

Protein variants
variant number percentages
substitutions confirmed: 110 52.13%
frame shifts confirmed: 42 19.91%
nonsense confirmed: 25 11.85%
unknown 34 16.11%
total 211 100%
Variants not observed: deletions, duplications, insertions, insertion/deletions, 2 variants in 1 allele, no protein variants, nonstop variants, translation initiation variant, silent, complex


Legend: confirmed confirmed predicted predicted