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

* 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.