EMD protein-altering variants in ExAC


The table below lists the EMD 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. 153608351 c.237A>C p.K79N missense 0.00001143
2. 153608355 c.241G>A p.D81N missense 0.00001143
3. 153609262 c.470G>A p.R157Q missense 0.00008016
4. 153609400 c.608G>A p.R203H missense 0.00004580
5. 153609469 c.677G>C p.W226S missense 0.00002303
6. 153609349 c.557C>T p.S186F missense 0.00001144
7. 153609390 c.598T>C p.W200R missense 0.00002290
8. 153609246 c.454C>T p.R152C missense 0.00003436
9. 153608115 c.148C>T p.P50S missense 0.00002547
10. 153608308 c.194A>T p.N65I missense 0.00001144
11. 153609373 c.581C>T p.S194L missense 0.00003433
12. 153609424 c.632G>A p.R211H missense 0.00001147
13. 153609379 c.587C>T p.S196F missense 0.00001145
14. 153608050 c.83G>C p.G28A missense 0.00001303
15. 153608070 c.103G>A p.E35K missense 0.00001265
16. 153608116 c.149C>A p.P50H missense 0.00001271
17. 153608128 c.161C>G p.S54C missense 0.00001276
18. 153608134 c.167C>T p.A56V missense 0.00001273
19. 153608137 c.170C>T p.S57F missense 0.00001272
20. 153608140 c.173C>T p.S58F missense 0.00001272
21. 153608317 c.203G>C p.R68T missense 0.00001143
22. 153608320 c.206G>T p.G69V missense 0.00001143
23. 153608618 c.290A>C p.E97A missense 0.00001169
24. 153608621 c.293G>A p.S98N missense 0.00001168
25. 153608642 c.314A>G p.Y105C missense 0.00001165
26. 153608650 c.322C>T p.P108S missense 0.00001166
27. 153608662 c.334G>T p.G112C missense 0.00002333
28. 153608681 c.353G>A p.R118H missense 0.00002333
29. 153608687 c.359C>T p.S120L missense 0.00001165
30. 153608713 c.385G>A p.A129T missense 0.00002336
31. 153609116 c.403C>T p.H135Y missense 0.00001148
32. 153609125 c.412G>A p.D138N missense 0.00002294
33. 153609149 c.436G>A p.E146K missense 0.00002291
34. 153609247 c.455G>A p.R152H missense 0.00001145
35. 153609250 c.458C>T p.P153L missense 0.00005726
36. 153609252 c.460A>G p.M154V missense 0.00001145
37. 153609253 c.461T>C p.M154T missense 0.00001145
38. 153609261 c.469C>T p.R157W missense 0.00001145
39. 153609319 c.527C>T p.S176F missense 0.00001145
40. 153609364 c.572T>C p.M191T missense 0.00001144
41. 153609367 c.575C>T p.S192F missense 0.00001144
42. 153609399 c.607C>T p.R203C missense 0.00001145
43. 153609402 c.610C>T p.R204C missense 0.00003436
44. 153609403 c.611G>A p.R204H missense 0.00001145
45. 153609412 c.620G>C p.R207P missense 0.00009166
46. 153609421 c.629A>C p.N210T missense 0.00001147
47. 153609423 c.631C>T p.R211C missense 0.00001146
48. 153609454 c.662G>A p.R221H missense 0.00001150
49. 153609463 c.671C>T p.P224L missense 0.00002301
50. 153609490 c.698T>C p.L233P missense 0.00001154
51. 153609496 c.704T>C p.F235S missense 0.00001156
52. 153609498 c.706G>A p.V236M missense 0.00001157
53. 153609504 c.712G>A p.V238I missense 0.00003477
54. 153609510 c.718T>C p.F240L missense 0.00001161
55. 153609520 c.728A>C p.Y243S missense 0.00001170
56. 153609538 c.746A>G p.E249G missense 0.00003610
57. 153608071 c.104_106delAGA p.Lys37del inframe 0.00002529
58. 153608080 c.113_115delTCT p.Phe39del inframe 0.00001258

* 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.