SGCD protein-altering variants in ExAC


The table below lists the SGCD 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. 156186360 c.832G>A p.A278T missense 0.00009991
2. 156021953 c.394G>A p.V132I missense 0.00009737
3. 156022053 c.494G>A p.R165Q missense 0.00009243
4. 156186295 c.767C>T p.T256M missense 0.00009114
5. 156074482 c.511G>A p.G171S missense 0.00008716
6. 155771686 c.191T>C p.I64T missense 0.00006663
7. 156184713 c.697G>A p.E233K missense 0.00006038
8. 156074518 c.547G>A p.V183I missense 0.00005546
9. 156074504 c.533T>C p.I178T missense 0.00005465
10. 156186259 c.731C>T p.P244L missense 0.00004975
11. 156186277 c.749C>T p.S250F missense 0.00004144
12. 155771655 c.160A>G p.I54V missense 0.00004144
13. 155771526 c.31C>T p.R11W missense 0.00004141
14. 156016324 c.378A>G p.I126M missense 0.00003430
15. 156016316 c.370C>T p.Q124X nonsense 0.00003384
16. 156016308 c.362T>G p.V121G missense 0.00003301
17. 156016286 c.340A>G p.I114V missense 0.00003270
18. 156016300 c.354G>T p.Q118H missense 0.00003268
19. 156074547 c.575+1G>A essential splice site 0.00003151
20. 156074537 c.566A>G p.K189R missense 0.00002935
21. 155935630 c.212G>C p.R71T missense 0.00002612
22. 156186360 c.832G>T p.A278S missense 0.00002498
23. 156186244 c.716C>T p.A239V missense 0.00002490
24. 156186270 c.742C>T p.H248Y missense 0.00002487
25. 155771574 c.79A>G p.I27V missense 0.00002484
26. 156184609 c.593G>A p.R198Q missense 0.00002213
27. 156184643 c.627A>T p.E209D missense 0.00002212
28. 155771620 c.125T>C p.L42P missense 0.00001657
29. 155756591 c.3+2T>A essential splice site 0.00001657
30. 155771616 c.121C>T p.L41F missense 0.00001657
31. 0 c.-43-1G>A essential splice site 0.00001656
32. 155771527 c.32G>A p.R11Q missense 0.00001656
33. 155771563 c.68A>G p.Y23C missense 0.00001656
34. 155771551 c.56G>A p.G19E missense 0.00001656
35. 156184710 c.694G>A p.G232R missense 0.00001489
36. 156184711 c.695G>A p.G232E missense 0.00001488
37. 156021942 c.383G>A p.G128D missense 0.00001416
38. 156184697 c.681delG p.Glu228AsnfsTer9 frameshift 0.00001361
39. 156021953 c.394G>T p.V132L missense 0.00001217
40. 156184666 c.650T>C p.M217T missense 0.00001182
41. 156021956 c.397G>C p.E133Q missense 0.00001164
42. 156184649 c.633T>G p.N211K missense 0.00001127
43. 156184647 c.631A>C p.N211H missense 0.00001117
44. 156021960 c.401C>T p.A134V missense 0.00001112
45. 156184638 c.622G>A p.V208M missense 0.00001090
46. 156022052 c.493C>G p.R165G missense 0.00001021
47. 156022047 c.488G>T p.R163I missense 0.00000984
48. 156022031 c.472G>A p.V158I missense 0.00000919
49. 156022027 c.468A>C p.E156D missense 0.00000913
50. 155935612 c.194A>G p.D65G missense 0.00000909
51. 156022020 c.461A>G p.N154S missense 0.00000900
52. 156022004 c.445C>G p.L149V missense 0.00000897
53. 156022011 c.452C>T p.S151F missense 0.00000895
54. 155935621 c.203G>C p.G68A missense 0.00000886
55. 155935707 c.289C>T p.R97X nonsense 0.00000859
56. 155935644 c.226G>T p.G76C missense 0.00000854
57. 155935688 c.270_272delCGC p.Ala91del inframe 0.00000846
58. 155935683 c.265C>G p.L89V missense 0.00000845
59. 156186379 c.851T>C p.I284T missense 0.00000840
60. 156186378 c.850A>T p.I284L missense 0.00000839
61. 156186369 c.841A>G p.T281A missense 0.00000835
62. 156186367 c.839C>T p.S280F missense 0.00000835
63. 156186363 c.835G>A p.G279R missense 0.00000833
64. 155771685 c.190A>G p.I64V missense 0.00000833
65. 155771674 c.179T>C p.M60T missense 0.00000831
66. 156186346 c.818T>A p.L273Q missense 0.00000830
67. 156186349 c.821C>T p.S274F missense 0.00000830
68. 155771592 c.97C>T p.R33X nonsense 0.00000829
69. 156186249 c.721A>G p.I241V missense 0.00000829
70. 156186289 c.761C>T p.T254I missense 0.00000829
71. 156186254 c.726G>C p.R242S missense 0.00000829
72. 155771584 c.89G>T p.W30L missense 0.00000829
73. 156186327 c.799G>A p.A267T missense 0.00000829
74. 156186331 c.803A>G p.N268S missense 0.00000829
75. 155771637 c.142G>T p.V48L missense 0.00000828
76. 155771581 c.86G>T p.G29V missense 0.00000828
77. 155756587 c.1A>G p.Met1? missense 0.00000828
78. 155771529 c.34A>G p.S12G missense 0.00000828
79. 155771556 c.61C>A p.Q21K missense 0.00000828
80. 155771506 c.11A>C p.Q4P missense 0.00000828
81. 155771572 c.77G>A p.G26E missense 0.00000828
82. 155756590 c.3+1G>A essential splice site 0.00000828
83. 155771596 c.101G>C p.C34S missense 0.00000828
84. 155771580 c.85G>A p.G29S missense 0.00000828
85. 155771554 c.59C>T p.P20L missense 0.00000828

* 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.