CRYAB protein-altering variants in ExAC

CRYAB gene summary
CRYAB variants in DCM

The table below lists the CRYAB protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 111782417 c.32G>A p.R11H missense 0.00003555●●●●●●
2. 111779546 c.470G>A p.R157H missense 0.00009061●●●●●●
3. 111781170 c.205C>T p.R69C missense 0.00007414●●●●●●
4. 111781055 c.320G>A p.R107H missense 0.00001647●●●●●●
5. 111782334 c.115C>G p.P39A missense 0.00003059●●●●●●
6. 111782364 c.85G>C p.G29R missense 0.00001137●●●●●●
7. 111779529 c.487C>T p.R163C missense 0.00001647●●●●●●
8. 111779531 c.485C>T p.T162I missense 0.00001647●●●●●●
9. 111782374 c.75C>G p.D25E missense 0.00002392●●●●●●
10. 111779547 c.469C>T p.R157C missense 0.00004118●●●●●●
11. 111779610 c.406T>A p.S136T missense 0.00000824●●●●●●
12. 111779643 c.373C>T p.P125S missense 0.00002472●●●●●●
13. 111782397 c.52C>T p.H18Y missense 0.00002855●●●●●●
14. 111782415 c.34C>T p.R12C missense 0.00005253●●●●●●
15. 111782442 c.7A>G p.I3V missense 0.00002426●●●●●●
16. 111781088 c.287A>G p.D96G missense 0.00000824●●●●●●
17. 111781106 c.269A>G p.K90R missense 0.00000824●●●●●●
18. 111781158 c.217G>C p.D73H missense 0.00000824●●●●●●
19. 111782393 c.56C>A p.S19Y missense 0.00001379●●●●●●
20. 111782447 c.2T>C p.M1T missense 0.00002534●●●●●●
21. 111779528 c.488G>A p.R163H missense 0.00001647●●●●●●
22. 111779540 c.476T>C p.I159T missense 0.00000824●●●●●●
23. 111779564 c.452A>G p.Q151R missense 0.00000824●●●●●●
24. 111779576 c.440G>A p.G147E missense 0.00002471●●●●●●
25. 111779583 c.433G>C p.V145L missense 0.00000824●●●●●●
26. 111779583 c.433G>A p.V145M missense 0.00000824●●●●●●
27. 111779589 c.427C>G p.L143V missense 0.00000824●●●●●●
28. 111779619 c.397A>G p.I133V missense 0.00000824●●●●●●
29. 111779644 c.372C>G p.I124M missense 0.00001648●●●●●●
30. 111779648 c.368G>A p.R123Q missense 0.00001648●●●●●●
31. 111779649 c.367C>T p.R123W missense 0.00001648●●●●●●
32. 111779654 c.362A>G p.K121R missense 0.00000824●●●●●●
33. 111781056 c.319C>T p.R107C missense 0.00000824●●●●●●
34. 111781057 c.318G>T p.E106D missense 0.00001647●●●●●●
35. 111781086 c.289G>A p.V97M missense 0.00000824●●●●●●
36. 111781098 c.277G>A p.V93M missense 0.00000824●●●●●●
37. 111781121 c.254C>T p.S85F missense 0.00000824●●●●●●
38. 111781170 c.205C>A p.R69S missense 0.00000824●●●●●●
39. 111782261 c.188C>A p.T63N missense 0.00001192●●●●●●
40. 111782267 c.182T>A p.F61Y missense 0.00002277●●●●●●
41. 111782277 c.172C>T p.P58S missense 0.00001066●●●●●●
42. 111782300 c.149G>A p.R50Q missense 0.00000991●●●●●●
43. 111782319 c.130C>A p.L44M missense 0.00000989●●●●●●
44. 111782325 c.124A>G p.T42A missense 0.00001001●●●●●●
45. 111782330 c.119C>T p.T40M missense 0.00001012●●●●●●
46. 111782357 c.92A>C p.H31P missense 0.00001105●●●●●●
47. 111782364 c.85G>A p.G29R missense 0.00004549●●●●●●
48. 111782384 c.65G>A p.R22H missense 0.00001301●●●●●●
49. 111782385 c.64C>T p.R22C missense 0.00002614●●●●●●
50. 111782418 c.31C>T p.R11C missense 0.00001838●●●●●●
51. 111782445 c.4G>A p.D2N missense 0.00002488●●●●●●
52. 111782446 c.3G>A p.Met1? missense 0.00007562●●●●●●
53. 111782422 c.27G>A p.W9X nonsense 0.00001894●●●●●●
54. 111779693 c.325-2A>G essential splice site 0.00002484●●●●●●
55. 111781049 c.324+2T>C essential splice site 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.