GLA protein-altering variants in ExAC


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 frequencyPopulations*
1. 100655674 c.619T>C p.Y207H missense 0.00005424
2. 100653366 c.991C>T p.L331F missense 0.00003423
3. 100652999 c.1088G>A p.R363H missense 0.00003420
4. 100652912 c.1175G>C p.R392T missense 0.00003419
5. 100662770 c.122C>G p.T41S missense 0.00003419
6. 100655692 c.601T>G p.S201A missense 0.00002612
7. 100658815 c.353G>A p.R118H missense 0.00002281
8. 100662807 c.85G>A p.A29T missense 0.00002280
9. 100652985 c.1102G>C p.A368P missense 0.00002280
10. 100662803 c.89G>C p.R30T missense 0.00002280
11. 100658921 c.247G>A p.D83N missense 0.00002279
12. 100655662 c.631T>C p.F211L missense 0.00001421
13. 100655694 c.599A>G p.Y200C missense 0.00001305
14. 100655714 c.579G>C p.R193S missense 0.00001304
15. 100655697 c.596T>C p.V199A missense 0.00001301
16. 100662887 c.5A>C p.Q2P missense 0.00001146
17. 100653086 c.1001G>A p.G334E missense 0.00001146
18. 100662860 c.32G>A p.G11D missense 0.00001142
19. 100652812 c.1275A>C p.L425F missense 0.00001142
20. 100653362 c.995G>A p.R332K missense 0.00001142
21. 100662860 c.32G>C p.G11A missense 0.00001142
22. 100653060 c.1027C>T p.P343S missense 0.00001141
23. 100658807 c.361G>A p.A121T missense 0.00001141
24. 100653363 c.994A>G p.R332G missense 0.00001141
25. 100652994 c.1093T>A p.Y365N missense 0.00001140
26. 100658833 c.335G>A p.R112H missense 0.00001140
27. 100658956 c.212A>G p.E71G missense 0.00001140
28. 100662819 c.73G>A p.D25N missense 0.00001140
29. 100652903 c.1184G>C p.G395A missense 0.00001140
30. 100656790 c.377G>T p.S126I missense 0.00001140
31. 100653489 c.868A>C p.M290L missense 0.00001140
32. 100662831 c.61C>T p.L21F missense 0.00001140
33. 100653008 c.1079G>C p.G360A missense 0.00001140
34. 100653009 c.1078G>T p.G360C missense 0.00001140
35. 100652850 c.1237G>A p.V413I missense 0.00001140
36. 100653027 c.1060A>G p.I354V missense 0.00001140
37. 100662776 c.116C>T p.T39M missense 0.00001140
38. 100656736 c.431G>A p.G144D missense 0.00001139
39. 100653838 c.736A>T p.T246S missense 0.00001139
40. 100656710 c.457G>A p.D153N missense 0.00001139
41. 100656748 c.419A>C p.K140T missense 0.00001139
42. 100658855 c.313A>G p.R105G 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.