MYLK truncating variants in ExAC

MYLK gene summary
MYLK variants in

The table below lists the MYLK 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. 123451911 c.1348G>T p.E450X nonsense 0.00003406●●●●●●
2. 123426600 c.2390+1G>A essential splice site 0.00003305●●●●●●
3. 123457797 c.535C>T p.R179X nonsense 0.00001876●●●●●●
4. 123457827 c.505C>T p.R169X nonsense 0.00001766●●●●●●
5. 123457839 c.493delA p.Thr165ProfsTer72 frameshift 0.00001736●●●●●●
6. 123452942 c.901C>T p.Gln301Ter nonsense 0.00001695●●●●●●
7. 123444927 c.1517-2A>G essential splice site 0.00001689●●●●●●
8. 123453013 c.830delA p.Asn277MetfsTer2 frameshift 0.00000902●●●●●●
9. 123457860 c.472delG p.Glu158SerfsTer79 frameshift 0.00000857●●●●●●
10. 123451894 c.1365dupG p.Arg456GlufsTer7 frameshift 0.00000842●●●●●●
11. 123444790 c.1651+1delG essential splice site 0.00000832●●●●●●
12. 123426826 c.2165G>A p.W722X nonsense 0.00000832●●●●●●
13. 123427566 c.2119C>T p.Q707X nonsense 0.00000831●●●●●●
14. 123444802 c.1640G>A p.W547X nonsense 0.00000831●●●●●●
15. 123386036 c.3653-2A>G essential splice site 0.00000831●●●●●●
16. 123451846 c.1413C>G p.Y471X nonsense 0.00000829●●●●●●
17. 0 c.0_1insC p.Met1? frameshift 0.00000827●●●●●●
18. 123452859 c.984delG p.Arg330GlufsTer66 frameshift 0.00000827●●●●●●
19. 123426785 c.2206C>T p.Q736X nonsense 0.00000827●●●●●●
20. 123420283 c.2462+2T>C essential splice site 0.00000826●●●●●●
21. 123337485 c.5500+1G>T essential splice site 0.00000825●●●●●●
22. 123419521 c.2794delC p.Gln932LysfsTer2 frameshift 0.00000824●●●●●●
23. 123332957 c.5740G>T p.E1914X nonsense 0.00000824●●●●●●
24. 123452621 c.1222C>T p.Q408X nonsense 0.00000824●●●●●●
25. 123419623 c.2692C>T p.R898X nonsense 0.00000824●●●●●●
26. 123385157 c.3740delA p.Gln1247ArgfsTer15 frameshift 0.00000824●●●●●●
27. 123452786 c.1057C>T p.Q353X nonsense 0.00000824●●●●●●
28. 123451782 c.1477C>T p.Q493X nonsense 0.00000824●●●●●●
29. 123454244 c.773+1G>T essential splice site 0.00000824●●●●●●
30. 123420349 c.2398delG p.Val800LeufsTer10 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.