GLA missense variants in ExAC

GLA gene summary
GLA variants in HCM, DCM

The table below lists the GLA missense 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. 100655674 c.619T>C p.Y207H missense 0.00005424●●●●●●
13. 100653366 c.991C>T p.L331F missense 0.00003423●●●●●●
14. 100652999 c.1088G>A p.R363H missense 0.00003420●●●●●●
15. 100652912 c.1175G>C p.R392T missense 0.00003419●●●●●●
16. 100662770 c.122C>G p.T41S missense 0.00003419●●●●●●
17. 100655692 c.601T>G p.S201A missense 0.00002612●●●●●●
18. 100658815 c.353G>A p.R118H missense 0.00002281●●●●●●
19. 100662803 c.89G>C p.R30T missense 0.00002280●●●●●●
20. 100652985 c.1102G>C p.A368P missense 0.00002280●●●●●●
21. 100662807 c.85G>A p.A29T missense 0.00002280●●●●●●
22. 100658921 c.247G>A p.D83N missense 0.00002279●●●●●●
23. 100655662 c.631T>C p.F211L missense 0.00001421●●●●●●
24. 100655694 c.599A>G p.Y200C missense 0.00001305●●●●●●
25. 100655714 c.579G>C p.R193S missense 0.00001304●●●●●●
26. 100655697 c.596T>C p.V199A missense 0.00001301●●●●●●
27. 100662887 c.5A>C p.Q2P missense 0.00001146●●●●●●
28. 100653086 c.1001G>A p.G334E missense 0.00001146●●●●●●
29. 100662860 c.32G>C p.G11A missense 0.00001142●●●●●●
30. 100662860 c.32G>A p.G11D missense 0.00001142●●●●●●
31. 100652812 c.1275A>C p.L425F missense 0.00001142●●●●●●
32. 100653362 c.995G>A p.R332K missense 0.00001142●●●●●●
33. 100653363 c.994A>G p.R332G missense 0.00001141●●●●●●
34. 100653060 c.1027C>T p.P343S missense 0.00001141●●●●●●
35. 100658807 c.361G>A p.A121T missense 0.00001141●●●●●●
36. 100653027 c.1060A>G p.I354V missense 0.00001140●●●●●●
37. 100652903 c.1184G>C p.G395A missense 0.00001140●●●●●●
38. 100652850 c.1237G>A p.V413I missense 0.00001140●●●●●●
39. 100653009 c.1078G>T p.G360C missense 0.00001140●●●●●●
40. 100662819 c.73G>A p.D25N missense 0.00001140●●●●●●
41. 100658833 c.335G>A p.R112H missense 0.00001140●●●●●●
42. 100662776 c.116C>T p.T39M missense 0.00001140●●●●●●
43. 100658956 c.212A>G p.E71G missense 0.00001140●●●●●●
44. 100656790 c.377G>T p.S126I missense 0.00001140●●●●●●
45. 100662831 c.61C>T p.L21F missense 0.00001140●●●●●●
46. 100653008 c.1079G>C p.G360A missense 0.00001140●●●●●●
47. 100652994 c.1093T>A p.Y365N missense 0.00001140●●●●●●
48. 100653489 c.868A>C p.M290L missense 0.00001140●●●●●●
49. 100656748 c.419A>C p.K140T missense 0.00001139●●●●●●
50. 100658855 c.313A>G p.R105G missense 0.00001139●●●●●●
51. 100656736 c.431G>A p.G144D missense 0.00001139●●●●●●
52. 100656710 c.457G>A p.D153N missense 0.00001139●●●●●●
53. 100653838 c.736A>T p.T246S 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.