1267
|
ALL
|
All variations
|
4
|
Essential splice site
|
In the first 2 or the last 2 base pairs of an intron
|
9
|
Stop gained
|
In coding sequence, resulting in the gain of a stop codon
|
14
|
Frameshift coding
|
In coding sequence, resulting in a frameshift
|
344
|
Non-synonymous coding
|
In coding sequence and results in an amino acid change in the encoded peptide sequence
|
32
|
Splice site
|
1–3 bps into an exon or 3–8 bps into an intron
|
251
|
Synonymous coding
|
In coding sequence, not resulting in an amino acid change (silent mutation)
|
2
|
Coding unknown
|
In coding sequence within determinate effect
|
13
|
5 prime UTR
|
In 5 prime untranslated region
|
27
|
3 prime UTR
|
In 3 prime untranslated region
|
555
|
Intronic
|
In intron
|
332
|
NMD transcript
|
Located within a transcript predicted to undergo nonsense-mediated decay
|
99
|
Within non-coding gene
|
Located within a gene that does not code for a protein
|
2
|
Upstream
|
Within 5 kb upstream of the 5 prime end of a transcript
|
| 11 |
Downstream |
Within 5 kb downstream of the 3 prime end of a transcript |
