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. 2014 Jun 10;3:18. Originally published 2014 Jan 21. [Version 2] doi: 10.12688/f1000research.3-18.v2

Table 17. InSiGHT database variants, taking into account the DNA variant and the impact on the gene product.

Variants have been annotated using SETH, thus the variant types delivered by SETH are considered.

Frequency DNA variant type Protein variant type
134
25
22
16
12
12
8
7
4
2
2
2
2
1
1
1
1
SUBSTITUTION
SUBSTITUTION
DELETION
DELETION
DELETION
DUPLICATION
UNKNOWN
DELETION
DUPLICATION
DELETION_INSERTION
DUPLICATION
SUBSTITUTION
SUBSTITUTION
DUPLICATION
DUPLICATION
INSERTION
UNKNOWN
SUBSTITUTION
UNKNOWN
FRAMESHIFT
DELETION
UNKNOWN
FRAMESHIFT
SUBSTITUTION
SUBSTITUTION
SUBSTITUTION
SUBSTITUTION
UNKNOWN
DELETION
FRAMESHIFT
DUPLICATION
INSERTION
FRAMESHIFT
DELETION