GLA variants in ExAC

GLA gene summary
GLA variants in HCM, DCM

The table below lists the GLA 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. 100653420 c.937G>T p.D313Y missense 0.00313347●●●●●●
2. 100656740 c.427G>A p.A143T missense 0.00077485●●●●●●
3. 100652934 c.1153A>G p.T385A missense 0.00060401●●●●●●
4. 100656791 c.376A>G p.S126G missense 0.00043311●●●●●●
5. 100656751 c.416A>G p.N139S missense 0.00030766●●●●●●
6. 100662884 c.8T>C p.L3P missense 0.00029787●●●●●●
7. 100658816 c.352C>T p.R118C missense 0.00025088●●●●●●
8. 100653492 c.865A>G p.I289V missense 0.00014816●●●●●●
9. 100652891 c.1196G>C p.W399S missense 0.00013677●●●●●●
10. 100658972 c.196G>C p.E66Q missense 0.00012558●●●●●●
11. 100652985 c.1102G>A p.A368T missense 0.00010259●●●●●●
12. 100655648 c.639+6A>C splice site 0.00007550●●●●●●
13. 100655674 c.619T>C p.Y207H missense 0.00005424●●●●●●
14. 100653561 c.802-6T>G splice site 0.00003443●●●●●●
15. 100653366 c.991C>T p.L331F missense 0.00003423●●●●●●
16. 100652999 c.1088G>A p.R363H missense 0.00003420●●●●●●
17. 100662770 c.122C>G p.T41S missense 0.00003419●●●●●●
18. 100652912 c.1175G>C p.R392T missense 0.00003419●●●●●●
19. 100655692 c.601T>G p.S201A missense 0.00002612●●●●●●
20. 100653358 c.999G>A splice site 0.00002285●●●●●●
21. 100658815 c.353G>A p.R118H missense 0.00002281●●●●●●
22. 100652985 c.1102G>C p.A368P missense 0.00002280●●●●●●
23. 100662803 c.89G>C p.R30T missense 0.00002280●●●●●●
24. 100662807 c.85G>A p.A29T missense 0.00002280●●●●●●
25. 100658921 c.247G>A p.D83N missense 0.00002279●●●●●●
26. 100655662 c.631T>C p.F211L missense 0.00001421●●●●●●
27. 100655749 c.548-4A>G splice site 0.00001401●●●●●●
28. 100655694 c.599A>G p.Y200C missense 0.00001305●●●●●●
29. 100655714 c.579G>C p.R193S missense 0.00001304●●●●●●
30. 100655697 c.596T>C p.V199A missense 0.00001301●●●●●●
31. 100662887 c.5A>C p.Q2P missense 0.00001146●●●●●●
32. 100653086 c.1001G>A p.G334E missense 0.00001146●●●●●●
33. 100653362 c.995G>A p.R332K missense 0.00001142●●●●●●
34. 100652812 c.1275A>C p.L425F missense 0.00001142●●●●●●
35. 100662860 c.32G>C p.G11A missense 0.00001142●●●●●●
36. 100662860 c.32G>A p.G11D missense 0.00001142●●●●●●
37. 100658807 c.361G>A p.A121T missense 0.00001141●●●●●●
38. 100653363 c.994A>G p.R332G missense 0.00001141●●●●●●
39. 100653060 c.1027C>T p.P343S missense 0.00001141●●●●●●
40. 100653008 c.1079G>C p.G360A missense 0.00001140●●●●●●
41. 100652994 c.1093T>A p.Y365N missense 0.00001140●●●●●●
42. 100656615 c.547+5T>C splice site 0.00001140●●●●●●
43. 100652903 c.1184G>C p.G395A missense 0.00001140●●●●●●
44. 100653027 c.1060A>G p.I354V missense 0.00001140●●●●●●
45. 100653009 c.1078G>T p.G360C missense 0.00001140●●●●●●
46. 100658833 c.335G>A p.R112H missense 0.00001140●●●●●●
47. 100652850 c.1237G>A p.V413I missense 0.00001140●●●●●●
48. 100662819 c.73G>A p.D25N missense 0.00001140●●●●●●
49. 100662776 c.116C>T p.T39M missense 0.00001140●●●●●●
50. 100653489 c.868A>C p.M290L missense 0.00001140●●●●●●
51. 100658956 c.212A>G p.E71G missense 0.00001140●●●●●●
52. 100656790 c.377G>T p.S126I missense 0.00001140●●●●●●
53. 100662831 c.61C>T p.L21F missense 0.00001140●●●●●●
54. 100653838 c.736A>T p.T246S missense 0.00001139●●●●●●
55. 100656736 c.431G>A p.G144D missense 0.00001139●●●●●●
56. 100658855 c.313A>G p.R105G missense 0.00001139●●●●●●
57. 100656710 c.457G>A p.D153N missense 0.00001139●●●●●●
58. 100656748 c.419A>C p.K140T missense 0.00001139●●●●●●

* 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.