CRYAB variants in ExAC

CRYAB gene summary
CRYAB variants in DCM

The table below lists the CRYAB 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. 111781047 c.324+4T>G splice site 0.26953183●●●●●●
2. 111779556 c.460G>A p.G154S missense 0.00076602●●●●●●
3. 111782297 c.152C>T p.P51L missense 0.00044704●●●●●●
4. 111782333 c.116C>T p.P39L missense 0.00033596●●●●●●
5. 111779546 c.470G>A p.R157H missense 0.00009061●●●●●●
6. 111782446 c.3G>A p.Met1? missense 0.00007562●●●●●●
7. 111781170 c.205C>T p.R69C missense 0.00007414●●●●●●
8. 111782415 c.34C>T p.R12C missense 0.00005253●●●●●●
9. 111782364 c.85G>A p.G29R missense 0.00004549●●●●●●
10. 111779547 c.469C>T p.R157C missense 0.00004118●●●●●●
11. 111782417 c.32G>A p.R11H missense 0.00003555●●●●●●
12. 111782334 c.115C>G p.P39A missense 0.00003059●●●●●●
13. 111782397 c.52C>T p.H18Y missense 0.00002855●●●●●●
14. 111782385 c.64C>T p.R22C missense 0.00002614●●●●●●
15. 111782447 c.2T>C p.M1T missense 0.00002534●●●●●●
16. 111782445 c.4G>A p.D2N missense 0.00002488●●●●●●
17. 111779693 c.325-2A>G essential splice site 0.00002484●●●●●●
18. 111779643 c.373C>T p.P125S missense 0.00002472●●●●●●
19. 111779576 c.440G>A p.G147E missense 0.00002471●●●●●●
20. 111782442 c.7A>G p.I3V missense 0.00002426●●●●●●
21. 111782374 c.75C>G p.D25E missense 0.00002392●●●●●●
22. 111782267 c.182T>A p.F61Y missense 0.00002277●●●●●●
23. 111782422 c.27G>A p.W9X nonsense 0.00001894●●●●●●
24. 111782418 c.31C>T p.R11C missense 0.00001838●●●●●●
25. 111779649 c.367C>T p.R123W missense 0.00001648●●●●●●
26. 111781047 c.324+4T>A splice site 0.00001648●●●●●●
27. 111779644 c.372C>G p.I124M missense 0.00001648●●●●●●
28. 111779648 c.368G>A p.R123Q missense 0.00001648●●●●●●
29. 111779528 c.488G>A p.R163H missense 0.00001647●●●●●●
30. 111779529 c.487C>T p.R163C missense 0.00001647●●●●●●
31. 111779531 c.485C>T p.T162I missense 0.00001647●●●●●●
32. 111781055 c.320G>A p.R107H missense 0.00001647●●●●●●
33. 111781057 c.318G>T p.E106D missense 0.00001647●●●●●●
34. 111782393 c.56C>A p.S19Y missense 0.00001379●●●●●●
35. 111782384 c.65G>A p.R22H missense 0.00001301●●●●●●
36. 111782261 c.188C>A p.T63N missense 0.00001192●●●●●●
37. 111782364 c.85G>C p.G29R missense 0.00001137●●●●●●
38. 111782357 c.92A>C p.H31P missense 0.00001105●●●●●●
39. 111782277 c.172C>T p.P58S missense 0.00001066●●●●●●
40. 111782330 c.119C>T p.T40M missense 0.00001012●●●●●●
41. 111782325 c.124A>G p.T42A missense 0.00001001●●●●●●
42. 111782300 c.149G>A p.R50Q missense 0.00000991●●●●●●
43. 111782319 c.130C>A p.L44M missense 0.00000989●●●●●●
44. 111779697 c.325-6G>T splice site 0.00000829●●●●●●
45. 111781170 c.205C>A p.R69S missense 0.00000824●●●●●●
46. 111779619 c.397A>G p.I133V missense 0.00000824●●●●●●
47. 111781158 c.217G>C p.D73H missense 0.00000824●●●●●●
48. 111781086 c.289G>A p.V97M missense 0.00000824●●●●●●
49. 111779583 c.433G>C p.V145L missense 0.00000824●●●●●●
50. 111779654 c.362A>G p.K121R missense 0.00000824●●●●●●
51. 111779540 c.476T>C p.I159T missense 0.00000824●●●●●●
52. 111781098 c.277G>A p.V93M missense 0.00000824●●●●●●
53. 111779583 c.433G>A p.V145M missense 0.00000824●●●●●●
54. 111781088 c.287A>G p.D96G missense 0.00000824●●●●●●
55. 111781049 c.324+2T>C essential splice site 0.00000824●●●●●●
56. 111781056 c.319C>T p.R107C missense 0.00000824●●●●●●
57. 111779564 c.452A>G p.Q151R missense 0.00000824●●●●●●
58. 111779610 c.406T>A p.S136T missense 0.00000824●●●●●●
59. 111781121 c.254C>T p.S85F missense 0.00000824●●●●●●
60. 111779589 c.427C>G p.L143V missense 0.00000824●●●●●●
61. 111781106 c.269A>G p.K90R missense 0.00000824●●●●●●
62. 111781046 c.324+5G>T 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.