LOVD - Variant statistics summary

Variants per exon/intron
exon # variants percentage of variants per exon
00 3 60%
02 1 20%
04 1 20%
total 5 100%

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 5 0 2 3 0 100%
totals 5 0 2 3 0 100%
Variants not observed: deletions, duplications, insertions, insertion/deletions, inversions, 2 variants in 1 allele, complex, unknown

RNA variants
variant number percentages
substitutions 2 40%
unknown 3 60%
total 5 100%
Variants not observed: 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: 1 20%
unknown 4 80%
total 5 100%
Variants not observed: deletions, duplications, insertions, insertion/deletions, 2 variants in 1 allele, frame shifts, no protein variants, nonstop variants, nonsense, translation initiation variant, silent, complex


Legend: confirmed confirmed predicted predicted