GLA protein-altering variants in ExAC

GLA gene summary
GLA variants in HCM, DCM

The table below lists the GLA 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. 100662887 c.5A>C p.Q2P missense 0.00001146●●●●●●
2. 100662860 c.32G>C p.G11A missense 0.00001142●●●●●●
3. 100662860 c.32G>A p.G11D missense 0.00001142●●●●●●
4. 100662831 c.61C>T p.L21F missense 0.00001140●●●●●●
5. 100662819 c.73G>A p.D25N missense 0.00001140●●●●●●
6. 100662807 c.85G>A p.A29T missense 0.00002280●●●●●●
7. 100662803 c.89G>C p.R30T missense 0.00002280●●●●●●
8. 100662776 c.116C>T p.T39M missense 0.00001140●●●●●●
9. 100662770 c.122C>G p.T41S missense 0.00003419●●●●●●
10. 100658956 c.212A>G p.E71G missense 0.00001140●●●●●●
11. 100658921 c.247G>A p.D83N missense 0.00002279●●●●●●
12. 100658855 c.313A>G p.R105G missense 0.00001139●●●●●●
13. 100658833 c.335G>A p.R112H missense 0.00001140●●●●●●
14. 100658815 c.353G>A p.R118H missense 0.00002281●●●●●●
15. 100658807 c.361G>A p.A121T missense 0.00001141●●●●●●
16. 100656790 c.377G>T p.S126I missense 0.00001140●●●●●●
17. 100656748 c.419A>C p.K140T missense 0.00001139●●●●●●
18. 100656736 c.431G>A p.G144D missense 0.00001139●●●●●●
19. 100656710 c.457G>A p.D153N missense 0.00001139●●●●●●
20. 100655714 c.579G>C p.R193S missense 0.00001304●●●●●●
21. 100655697 c.596T>C p.V199A missense 0.00001301●●●●●●
22. 100655694 c.599A>G p.Y200C missense 0.00001305●●●●●●
23. 100655692 c.601T>G p.S201A missense 0.00002612●●●●●●
24. 100655674 c.619T>C p.Y207H missense 0.00005424●●●●●●
25. 100655662 c.631T>C p.F211L missense 0.00001421●●●●●●
26. 100653838 c.736A>T p.T246S missense 0.00001139●●●●●●
27. 100653489 c.868A>C p.M290L missense 0.00001140●●●●●●
28. 100653366 c.991C>T p.L331F missense 0.00003423●●●●●●
29. 100653363 c.994A>G p.R332G missense 0.00001141●●●●●●
30. 100653362 c.995G>A p.R332K missense 0.00001142●●●●●●
31. 100653086 c.1001G>A p.G334E missense 0.00001146●●●●●●
32. 100653060 c.1027C>T p.P343S missense 0.00001141●●●●●●
33. 100653027 c.1060A>G p.I354V missense 0.00001140●●●●●●
34. 100653009 c.1078G>T p.G360C missense 0.00001140●●●●●●
35. 100653008 c.1079G>C p.G360A missense 0.00001140●●●●●●
36. 100652999 c.1088G>A p.R363H missense 0.00003420●●●●●●
37. 100652994 c.1093T>A p.Y365N missense 0.00001140●●●●●●
38. 100652985 c.1102G>C p.A368P missense 0.00002280●●●●●●
39. 100652912 c.1175G>C p.R392T missense 0.00003419●●●●●●
40. 100652903 c.1184G>C p.G395A missense 0.00001140●●●●●●
41. 100652850 c.1237G>A p.V413I missense 0.00001140●●●●●●
42. 100652812 c.1275A>C p.L425F missense 0.00001142●●●●●●

* 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.