GJA5 variants in ExAC

GJA5 gene summary
GJA5 variants in

The table below lists the GJA5 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. 147231334 c.13A>G p.S5G missense 0.00074964●●●●●●
2. 147230554 c.793C>T p.P265S missense 0.00022249●●●●●●
3. 147230352 c.995G>A p.R332H missense 0.00011533●●●●●●
4. 147231061 c.286G>T p.A96S missense 0.00009886●●●●●●
5. 147230374 c.973A>C p.N325H missense 0.00007413●●●●●●
6. 147230982 c.365C>T p.S122F missense 0.00006601●●●●●●
7. 147230575 c.772G>T p.V258F missense 0.00004121●●●●●●
8. 147230755 c.592G>A p.V198I missense 0.00003304●●●●●●
9. 147230400 c.947G>C p.R316P missense 0.00003295●●●●●●
10. 147231148 c.199G>A p.D67N missense 0.00002479●●●●●●
11. 147230970 c.377C>T p.P126L missense 0.00002476●●●●●●
12. 147230977 c.370G>C p.E124Q missense 0.00002476●●●●●●
13. 147231022 c.325C>T p.R109W missense 0.00002473●●●●●●
14. 147230596 c.751T>C p.S251P missense 0.00002473●●●●●●
15. 147230623 c.724C>T p.R242W missense 0.00002473●●●●●●
16. 147230571 c.776A>C p.Q259P missense 0.00002472●●●●●●
17. 147230400 c.947G>T p.R316L missense 0.00002471●●●●●●
18. 147230308 c.1039G>C p.A347P missense 0.00002471●●●●●●
19. 147230373 c.974A>G p.N325S missense 0.00002471●●●●●●
20. 147231345 c.2T>C p.Met1? missense 0.00001669●●●●●●
21. 147231311 c.36G>C p.E12D missense 0.00001661●●●●●●
22. 147230754 c.593T>C p.V198A missense 0.00001652●●●●●●
23. 147230904 c.443C>T p.T148I missense 0.00001651●●●●●●
24. 147230934 c.413A>C p.E138A missense 0.00001651●●●●●●
25. 147230917 c.430G>A p.A144T missense 0.00001651●●●●●●
26. 147231000 c.347A>C p.E116A missense 0.00001650●●●●●●
27. 147230617 c.730C>T p.H244Y missense 0.00001649●●●●●●
28. 147230616 c.731A>G p.H244R missense 0.00001648●●●●●●
29. 147230524 c.823C>T p.P275S missense 0.00001648●●●●●●
30. 147231030 c.317G>T p.R106L missense 0.00001648●●●●●●
31. 147230576 c.771_772insA p.Val258SerfsTer11 frameshift 0.00001648●●●●●●
32. 147230517 c.830G>A p.G277E missense 0.00001648●●●●●●
33. 147230584 c.763G>C p.V255L missense 0.00001648●●●●●●
34. 147230331 c.1016G>A p.S339N missense 0.00001647●●●●●●
35. 147230319 c.1028G>A p.R343H missense 0.00001647●●●●●●
36. 0 c.-33-4G>A splice site 0.00000839●●●●●●
37. 147231294 c.53C>T p.S18L missense 0.00000829●●●●●●
38. 147231144 c.203A>G p.Q68R missense 0.00000826●●●●●●
39. 147230922 c.425G>A p.R142K missense 0.00000826●●●●●●
40. 147230895 c.452A>G p.N151S missense 0.00000826●●●●●●
41. 147230767 c.580G>C p.V194L missense 0.00000826●●●●●●
42. 147230932 c.415G>A p.G139R missense 0.00000826●●●●●●
43. 147230722 c.625G>A p.V209I missense 0.00000826●●●●●●
44. 147230707 c.640G>A p.V214M missense 0.00000826●●●●●●
45. 147230781 c.566C>G p.P189R missense 0.00000826●●●●●●
46. 147231142 c.205G>C p.A69P missense 0.00000826●●●●●●
47. 147230914 c.433delC p.Leu145SerfsTer14 frameshift 0.00000826●●●●●●
48. 147230794 c.553T>C p.C185R missense 0.00000826●●●●●●
49. 147230887 c.460G>C p.V154L missense 0.00000825●●●●●●
50. 147231012 c.335A>G p.E112G missense 0.00000825●●●●●●
51. 147230955 c.392C>T p.A131V missense 0.00000825●●●●●●
52. 147230841 c.506T>C p.V169A missense 0.00000825●●●●●●
53. 147230942 c.405_407delCTG p.Cys135del inframe 0.00000825●●●●●●
54. 147230982 c.365C>G p.S122C missense 0.00000825●●●●●●
55. 147230799 c.548A>C p.H183P missense 0.00000825●●●●●●
56. 147230880 c.467G>C p.S156T missense 0.00000825●●●●●●
57. 147230846 c.501C>G p.F167L missense 0.00000825●●●●●●
58. 147230978 c.369_370delCG p.Tyr123Ter frameshift 0.00000825●●●●●●
59. 147230641 c.706C>T p.Q236X nonsense 0.00000825●●●●●●
60. 147230989 c.358T>C p.S120P missense 0.00000825●●●●●●
61. 147230814 c.533T>C p.F178S missense 0.00000825●●●●●●
62. 147230884 c.463T>C p.C155R missense 0.00000825●●●●●●
63. 147230851 c.496G>A p.G166S missense 0.00000825●●●●●●
64. 147230976 c.371A>G p.E124G missense 0.00000825●●●●●●
65. 147230826 c.521T>G p.I174S missense 0.00000825●●●●●●
66. 147230889 c.458A>G p.Y153C missense 0.00000825●●●●●●
67. 147230868 c.479G>T p.R160L missense 0.00000825●●●●●●
68. 147230605 c.742T>C p.C248R missense 0.00000824●●●●●●
69. 147230553 c.794C>G p.P265R missense 0.00000824●●●●●●
70. 147231048 c.299T>G p.V100G missense 0.00000824●●●●●●
71. 147230497 c.850A>C p.S284R missense 0.00000824●●●●●●
72. 147230405 c.942G>T p.Q314H missense 0.00000824●●●●●●
73. 147230633 c.714T>G p.F238L missense 0.00000824●●●●●●
74. 147230323 c.1024C>G p.R342G missense 0.00000824●●●●●●
75. 147231084 c.263C>T p.P88L missense 0.00000824●●●●●●
76. 147230587 c.760T>C p.S254P missense 0.00000824●●●●●●
77. 147230535 c.812T>A p.L271Q missense 0.00000824●●●●●●
78. 147230431 c.916C>T p.Q306X nonsense 0.00000824●●●●●●
79. 147230451 c.896A>G p.E299G missense 0.00000824●●●●●●
80. 147230374 c.973A>G p.N325D missense 0.00000824●●●●●●
81. 147230353 c.994C>T p.R332C missense 0.00000824●●●●●●
82. 147230312 c.1035_1038delTAAG p.Ser345ArgfsTer38 frameshift 0.00000824●●●●●●
83. 147230611 c.736G>A p.A246T missense 0.00000824●●●●●●
84. 147231045 c.302G>A p.R101H missense 0.00000824●●●●●●
85. 147231076 c.271G>T p.V91L missense 0.00000824●●●●●●
86. 147231016 c.331G>T p.A111S missense 0.00000824●●●●●●
87. 147230556 c.791C>A p.P264H missense 0.00000824●●●●●●
88. 147230443 c.904C>T p.R302X nonsense 0.00000824●●●●●●
89. 147230508 c.839T>G p.F280C missense 0.00000824●●●●●●
90. 147230409 c.938T>C p.I313T missense 0.00000824●●●●●●
91. 147231094 c.253G>T p.V85F missense 0.00000824●●●●●●
92. 147230540 c.807G>C p.Q269H missense 0.00000824●●●●●●
93. 147230434 c.913G>A p.E305K missense 0.00000824●●●●●●
94. 147230458 c.889G>A p.V297I missense 0.00000824●●●●●●
95. 147230400 c.947G>A p.R316H missense 0.00000824●●●●●●
96. 147230370 c.977G>C p.G326A missense 0.00000824●●●●●●
97. 147230612 c.735G>A p.M245I missense 0.00000824●●●●●●
98. 147230560 c.787C>T p.P263S missense 0.00000824●●●●●●
99. 147231058 c.289A>G p.M97V missense 0.00000824●●●●●●
100. 147230526 c.821G>A p.G274D missense 0.00000824●●●●●●
101. 147230531 c.816G>C p.E272D missense 0.00000824●●●●●●
102. 147230512 c.835T>A p.F279I missense 0.00000824●●●●●●
103. 147230418 c.929A>C p.E310A missense 0.00000824●●●●●●
104. 147231051 c.296_297insGGGCCACGCCATGCACAC p.Gly94_Thr99dup inframe 0.00000824●●●●●●
105. 147230335 c.1012C>T p.H338Y missense 0.00000824●●●●●●
106. 147230599 c.748C>T p.L250F missense 0.00000824●●●●●●
107. 147231021 c.326G>A p.R109Q missense 0.00000824●●●●●●
108. 147230553 c.794C>T p.P265L missense 0.00000824●●●●●●
109. 147230463 c.884A>G p.N295S missense 0.00000824●●●●●●
110. 147230625 c.722C>G p.P241R missense 0.00000824●●●●●●
111. 147231067 c.280G>C p.G94R missense 0.00000824●●●●●●
112. 147230570 c.777G>T p.Q259H missense 0.00000824●●●●●●
113. 147230517 c.830G>T p.G277V missense 0.00000824●●●●●●
114. 147230533 c.814G>C p.E272Q missense 0.00000824●●●●●●
115. 147230532 c.815A>C p.E272A missense 0.00000824●●●●●●
116. 147230442 c.905G>A p.R302Q missense 0.00000824●●●●●●
117. 147230427 c.920C>T p.T307I missense 0.00000824●●●●●●
118. 147230350 c.997C>T p.L333F missense 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.