ILK truncating variants in ExAC

ILK gene summary
ILK variants in

The table below lists the ILK truncating variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 6625587 c.86delA p.Gln29ArgfsTer25 frameshift 0.00009823●●●●●●
2. 6631691 c.1210-2A>G essential splice site 0.00002476●●●●●●
3. 6631742 c.1259_1260delAT p.His420ArgfsTer3 frameshift 0.00002471●●●●●●
4. 6631840 c.1357T>C p.Ter453GlnextTer7 nonsense 0.00001650●●●●●●
5. 6629698 c.330G>A p.W110X nonsense 0.00001648●●●●●●
6. 6630002 c.430_431delCT p.Leu144GlufsTer45 frameshift 0.00001647●●●●●●
7. 6625591 c.89+1G>T essential splice site 0.00001458●●●●●●
8. 6625548 c.47delT p.Arg17AlafsTer37 frameshift 0.00001045●●●●●●
9. 6631706 c.1223_1224insC p.Leu409ProfsTer15 frameshift 0.00000824●●●●●●
10. 6630158 c.492C>G p.Y164X nonsense 0.00000824●●●●●●
11. 6630598 c.687_690delAAGG p.Lys231AlafsTer23 frameshift 0.00000824●●●●●●
12. 6630199 c.532+1G>A essential splice site 0.00000824●●●●●●
13. 6631450 c.1150G>T p.E384X nonsense 0.00000824●●●●●●
14. 6630954 c.857-1G>A essential splice site 0.00000824●●●●●●
15. 6629352 c.166_167insG p.Ala58GlyfsTer11 frameshift 0.00000824●●●●●●
16. 6631402 c.1102_1105delACAA p.N369Dfs*17 frameshift 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.