GPD1L variants in ExAC

GPD1L gene summary
GPD1L variants in

The table below lists the GPD1L variants found in the ExAC population database. 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. 32181723 c.370A>G p.I124V missense 0.00205090●●●●●●
2. 32180227 c.366+8G>A splice site 0.00200452●●●●●●
3. 32200359 c.619-9C>G splice site 0.00086580●●●●●●
4. 32207381 c.1035G>T p.Q345H missense 0.00037150●●●●●●
5. 32200408 c.659G>A p.R220H missense 0.00034840●●●●●●
6. 32169619 c.99A>T p.K33N missense 0.00023293●●●●●●
7. 32180100 c.247G>A p.E83K missense 0.00017298●●●●●●
8. 32188213 c.605G>A p.C202Y missense 0.00015650●●●●●●
9. 32188128 c.520G>A p.E174K missense 0.00014827●●●●●●
10. 32200440 c.691C>T p.R231C missense 0.00014066●●●●●●
11. 32181709 c.367-11C>A splice site 0.00013179●●●●●●
12. 32181710 c.367-10A>T splice site 0.00013179●●●●●●
13. 32200588 c.839C>T p.A280V missense 0.00010136●●●●●●
14. 32201077 c.870G>T p.E290D missense 0.00005849●●●●●●
15. 32181725 c.372A>G p.I124M missense 0.00005766●●●●●●
16. 32181820 c.467A>G p.N156S missense 0.00004942●●●●●●
17. 32200566 c.817C>T p.R273C missense 0.00004186●●●●●●
18. 32200587 c.838G>A p.A280T missense 0.00003379●●●●●●
19. 32200512 c.763C>G p.L255V missense 0.00003314●●●●●●
20. 32200434 c.685G>A p.V229I missense 0.00003310●●●●●●
21. 32181769 c.416G>A p.R139H missense 0.00003295●●●●●●
22. 32200407 c.658C>T p.R220C missense 0.00002490●●●●●●
23. 32207343 c.997G>A p.E333K missense 0.00002474●●●●●●
24. 32181785 c.432T>G p.I144M missense 0.00002471●●●●●●
25. 32181857 c.504C>T p.I168I splice site 0.00002471●●●●●●
26. 32148214 c.11C>T p.A4V missense 0.00002142●●●●●●
27. 32169564 c.48-4G>T splice site 0.00001718●●●●●●
28. 32169565 c.48-3T>C splice site 0.00001715●●●●●●
29. 32200380 c.631G>A p.V211M missense 0.00001698●●●●●●
30. 32201085 c.878T>C p.M293T missense 0.00001668●●●●●●
31. 32201136 c.929G>A p.R310H missense 0.00001668●●●●●●
32. 32200533 c.784G>A p.D262N missense 0.00001660●●●●●●
33. 32200524 c.775G>A p.G259R missense 0.00001658●●●●●●
34. 32200453 c.704T>A p.M235K missense 0.00001654●●●●●●
35. 32207350 c.1004G>A p.R335K missense 0.00001649●●●●●●
36. 32180209 c.356C>A p.T119N missense 0.00001649●●●●●●
37. 32180146 c.293A>C p.Q98P missense 0.00001648●●●●●●
38. 32180197 c.344C>T p.A115V missense 0.00001648●●●●●●
39. 32181738 c.385G>A p.E129K missense 0.00001647●●●●●●
40. 32180114 c.261T>A p.D87E missense 0.00001647●●●●●●
41. 32181729 c.376delG p.E126Rfs*6 frameshift 0.00001647●●●●●●
42. 32180085 c.232A>G p.M78V missense 0.00001647●●●●●●
43. 32148204 c.1A>G p.M1V missense 0.00001094●●●●●●
44. 32148241 c.38C>T p.S13L missense 0.00001053●●●●●●
45. 32148237 c.34G>A p.G12S missense 0.00001050●●●●●●
46. 32148230 c.27C>A p.C9X nonsense 0.00001047●●●●●●
47. 32200608 c.852+7C>G splice site 0.00000881●●●●●●
48. 32200607 c.852+6C>T splice site 0.00000881●●●●●●
49. 32169578 c.58G>A p.V20I missense 0.00000844●●●●●●
50. 32201167 c.959+1G>T essential splice site 0.00000841●●●●●●
51. 32201166 c.959A>G p.K320R missense 0.00000841●●●●●●
52. 32200578 c.829G>A p.E277K missense 0.00000841●●●●●●
53. 32200387 c.638C>G p.A213G missense 0.00000841●●●●●●
54. 32200565 c.816_817insGTT p.N272_R273insV inframe 0.00000837●●●●●●
55. 32200567 c.818G>A p.R273H missense 0.00000837●●●●●●
56. 32200560 c.811C>T p.R271W missense 0.00000836●●●●●●
57. 32169603 c.83T>G p.V28G missense 0.00000835●●●●●●
58. 32201136 c.929G>T p.R310L missense 0.00000834●●●●●●
59. 32200398 c.649G>A p.D217N missense 0.00000833●●●●●●
60. 32201109 c.902G>A p.G301E missense 0.00000833●●●●●●
61. 32201123 c.916G>T p.A306S missense 0.00000833●●●●●●
62. 32169753 c.225+8T>C splice site 0.00000833●●●●●●
63. 32200401 c.652G>A p.G218S missense 0.00000832●●●●●●
64. 32169743 c.223G>A p.V75M missense 0.00000832●●●●●●
65. 32169740 c.220A>T p.N74Y missense 0.00000831●●●●●●
66. 32200540 c.791T>A p.I264N missense 0.00000831●●●●●●
67. 32200515 c.766G>A p.E256K missense 0.00000829●●●●●●
68. 32169640 c.120G>T p.M40I missense 0.00000829●●●●●●
69. 32169698 c.178C>G p.H60D missense 0.00000828●●●●●●
70. 32169697 c.177C>A p.D59E missense 0.00000828●●●●●●
71. 32200428 c.679G>A p.A227T missense 0.00000828●●●●●●
72. 32207315 c.969G>T p.L323F missense 0.00000828●●●●●●
73. 32200500 c.751A>G p.T251A missense 0.00000828●●●●●●
74. 32200503 c.754G>A p.A252T missense 0.00000828●●●●●●
75. 32169695 c.175G>A p.D59N missense 0.00000827●●●●●●
76. 32200488 c.739G>C p.G247R missense 0.00000827●●●●●●
77. 32200460 c.711G>T p.M237I missense 0.00000827●●●●●●
78. 32200494 c.745G>C p.V249L missense 0.00000827●●●●●●
79. 32207398 c.1052C>T p.T351I missense 0.00000827●●●●●●
80. 32207320 c.974C>T p.T325I missense 0.00000827●●●●●●
81. 32169657 c.137C>T p.T46I missense 0.00000827●●●●●●
82. 32207333 c.987G>T p.Q329H missense 0.00000825●●●●●●
83. 32207369 c.1023G>T p.L341F missense 0.00000825●●●●●●
84. 32207341 c.995A>G p.Y332C missense 0.00000825●●●●●●
85. 32207355 c.1009G>C p.V337L missense 0.00000825●●●●●●
86. 32207365 c.1019T>C p.M340T missense 0.00000825●●●●●●
87. 32188165 c.557C>T p.P186L missense 0.00000824●●●●●●
88. 32181835 c.482A>G p.E161G missense 0.00000824●●●●●●
89. 32181768 c.415C>T p.R139C missense 0.00000824●●●●●●
90. 32180184 c.331G>A p.V111M missense 0.00000824●●●●●●
91. 32188219 c.611C>T p.A204V missense 0.00000824●●●●●●
92. 32180072 c.226-7G>T splice site 0.00000824●●●●●●
93. 32181807 c.454G>A p.A152T missense 0.00000824●●●●●●
94. 32180077 c.226-2A>G essential splice site 0.00000824●●●●●●
95. 32180110 c.257A>G p.Q86R missense 0.00000824●●●●●●
96. 32188209 c.601C>T p.L201F missense 0.00000824●●●●●●
97. 32181736 c.383C>T p.P128L missense 0.00000824●●●●●●
98. 32181753 c.400A>T p.I134F missense 0.00000824●●●●●●
99. 32180187 c.334C>T p.P112S missense 0.00000824●●●●●●
100. 32180151 c.298A>G p.I100V missense 0.00000824●●●●●●
101. 32180079 c.226G>A p.V76I missense 0.00000824●●●●●●
102. 32181863 c.505+5G>C splice site 0.00000824●●●●●●
103. 32181814 c.461T>C p.I154T missense 0.00000824●●●●●●
104. 32188132 c.524A>G p.N175S missense 0.00000824●●●●●●
105. 32180133 c.280delG p.Val94SerfsTer31 frameshift 0.00000824●●●●●●
106. 32181724 c.371T>C p.I124T missense 0.00000824●●●●●●
107. 32180113 c.260A>C p.D87A missense 0.00000824●●●●●●
108. 32188212 c.604T>C p.C202R missense 0.00000824●●●●●●
109. 32181780 c.427G>C p.G143R missense 0.00000824●●●●●●
110. 32180182 c.329G>A p.R110K missense 0.00000824●●●●●●
111. 32188156 c.548T>G p.L183R missense 0.00000824●●●●●●
112. 32181828 c.475G>A p.A159T missense 0.00000824●●●●●●
113. 32181759 c.406G>A p.D136N missense 0.00000824●●●●●●
114. 32181727 c.374A>C p.D125A missense 0.00000824●●●●●●
115. 32188227 c.618+1G>A essential splice site 0.00000824●●●●●●
116. 32181762 c.409A>T p.I137F missense 0.00000824●●●●●●
117. 32180131 c.278T>C p.F93S missense 0.00000824●●●●●●
118. 32180202 c.349G>A p.G117R missense 0.00000824●●●●●●
119. 32180089 c.236C>G p.S79X nonsense 0.00000824●●●●●●

* 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.