CRYAB protein-altering variants in ExAC


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 frequencyPopulations*
1. 111779546 c.470G>A p.R157H missense 0.00009061
2. 111782446 c.3G>A p.Met1? missense 0.00007562
3. 111781170 c.205C>T p.R69C missense 0.00007414
4. 111782415 c.34C>T p.R12C missense 0.00005253
5. 111782364 c.85G>A p.G29R missense 0.00004549
6. 111779547 c.469C>T p.R157C missense 0.00004118
7. 111782417 c.32G>A p.R11H missense 0.00003555
8. 111782334 c.115C>G p.P39A missense 0.00003059
9. 111782397 c.52C>T p.H18Y missense 0.00002855
10. 111782385 c.64C>T p.R22C missense 0.00002614
11. 111782447 c.2T>C p.M1T missense 0.00002534
12. 111782445 c.4G>A p.D2N missense 0.00002488
13. 111779693 c.325-2A>G essential splice site 0.00002484
14. 111779643 c.373C>T p.P125S missense 0.00002472
15. 111779576 c.440G>A p.G147E missense 0.00002471
16. 111782442 c.7A>G p.I3V missense 0.00002426
17. 111782374 c.75C>G p.D25E missense 0.00002392
18. 111782267 c.182T>A p.F61Y missense 0.00002277
19. 111782422 c.27G>A p.W9X nonsense 0.00001894
20. 111782418 c.31C>T p.R11C missense 0.00001838
21. 111779644 c.372C>G p.I124M missense 0.00001648
22. 111779648 c.368G>A p.R123Q missense 0.00001648
23. 111779649 c.367C>T p.R123W missense 0.00001648
24. 111779528 c.488G>A p.R163H missense 0.00001647
25. 111781055 c.320G>A p.R107H missense 0.00001647
26. 111779529 c.487C>T p.R163C missense 0.00001647
27. 111779531 c.485C>T p.T162I missense 0.00001647
28. 111781057 c.318G>T p.E106D missense 0.00001647
29. 111782393 c.56C>A p.S19Y missense 0.00001379
30. 111782384 c.65G>A p.R22H missense 0.00001301
31. 111782261 c.188C>A p.T63N missense 0.00001192
32. 111782364 c.85G>C p.G29R missense 0.00001137
33. 111782357 c.92A>C p.H31P missense 0.00001105
34. 111782277 c.172C>T p.P58S missense 0.00001066
35. 111782330 c.119C>T p.T40M missense 0.00001012
36. 111782325 c.124A>G p.T42A missense 0.00001001
37. 111782300 c.149G>A p.R50Q missense 0.00000991
38. 111782319 c.130C>A p.L44M missense 0.00000989
39. 111779610 c.406T>A p.S136T missense 0.00000824
40. 111781170 c.205C>A p.R69S missense 0.00000824
41. 111779619 c.397A>G p.I133V missense 0.00000824
42. 111779583 c.433G>C p.V145L missense 0.00000824
43. 111781158 c.217G>C p.D73H missense 0.00000824
44. 111779654 c.362A>G p.K121R missense 0.00000824
45. 111781086 c.289G>A p.V97M missense 0.00000824
46. 111779540 c.476T>C p.I159T missense 0.00000824
47. 111781088 c.287A>G p.D96G missense 0.00000824
48. 111781056 c.319C>T p.R107C missense 0.00000824
49. 111781098 c.277G>A p.V93M missense 0.00000824
50. 111779583 c.433G>A p.V145M missense 0.00000824
51. 111779564 c.452A>G p.Q151R missense 0.00000824
52. 111781049 c.324+2T>C essential splice site 0.00000824
53. 111781121 c.254C>T p.S85F missense 0.00000824
54. 111779589 c.427C>G p.L143V missense 0.00000824
55. 111781106 c.269A>G p.K90R missense 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.