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

* 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.