GJA5 missense variants in ExAC

GJA5 gene summary
GJA5 variants in

The table below lists the GJA5 missense 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. 147230596 c.751T>C p.S251P missense 0.00002473●●●●●●
14. 147230623 c.724C>T p.R242W missense 0.00002473●●●●●●
15. 147231022 c.325C>T p.R109W missense 0.00002473●●●●●●
16. 147230571 c.776A>C p.Q259P missense 0.00002472●●●●●●
17. 147230373 c.974A>G p.N325S missense 0.00002471●●●●●●
18. 147230400 c.947G>T p.R316L missense 0.00002471●●●●●●
19. 147230308 c.1039G>C p.A347P 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. 147230584 c.763G>C p.V255L missense 0.00001648●●●●●●
29. 147230524 c.823C>T p.P275S missense 0.00001648●●●●●●
30. 147231030 c.317G>T p.R106L missense 0.00001648●●●●●●
31. 147230616 c.731A>G p.H244R missense 0.00001648●●●●●●
32. 147230517 c.830G>A p.G277E missense 0.00001648●●●●●●
33. 147230319 c.1028G>A p.R343H missense 0.00001647●●●●●●
34. 147230331 c.1016G>A p.S339N missense 0.00001647●●●●●●
35. 147231294 c.53C>T p.S18L missense 0.00000829●●●●●●
36. 147230722 c.625G>A p.V209I missense 0.00000826●●●●●●
37. 147230895 c.452A>G p.N151S missense 0.00000826●●●●●●
38. 147230767 c.580G>C p.V194L missense 0.00000826●●●●●●
39. 147230932 c.415G>A p.G139R missense 0.00000826●●●●●●
40. 147230781 c.566C>G p.P189R missense 0.00000826●●●●●●
41. 147230707 c.640G>A p.V214M missense 0.00000826●●●●●●
42. 147231142 c.205G>C p.A69P missense 0.00000826●●●●●●
43. 147230794 c.553T>C p.C185R missense 0.00000826●●●●●●
44. 147231144 c.203A>G p.Q68R missense 0.00000826●●●●●●
45. 147230922 c.425G>A p.R142K missense 0.00000826●●●●●●
46. 147230982 c.365C>G p.S122C missense 0.00000825●●●●●●
47. 147230880 c.467G>C p.S156T missense 0.00000825●●●●●●
48. 147230846 c.501C>G p.F167L missense 0.00000825●●●●●●
49. 147230887 c.460G>C p.V154L missense 0.00000825●●●●●●
50. 147230989 c.358T>C p.S120P missense 0.00000825●●●●●●
51. 147230976 c.371A>G p.E124G missense 0.00000825●●●●●●
52. 147230884 c.463T>C p.C155R missense 0.00000825●●●●●●
53. 147230814 c.533T>C p.F178S missense 0.00000825●●●●●●
54. 147230851 c.496G>A p.G166S missense 0.00000825●●●●●●
55. 147230889 c.458A>G p.Y153C missense 0.00000825●●●●●●
56. 147230826 c.521T>G p.I174S missense 0.00000825●●●●●●
57. 147230955 c.392C>T p.A131V missense 0.00000825●●●●●●
58. 147230868 c.479G>T p.R160L missense 0.00000825●●●●●●
59. 147231012 c.335A>G p.E112G missense 0.00000825●●●●●●
60. 147230799 c.548A>C p.H183P missense 0.00000825●●●●●●
61. 147230841 c.506T>C p.V169A missense 0.00000825●●●●●●
62. 147231084 c.263C>T p.P88L missense 0.00000824●●●●●●
63. 147231045 c.302G>A p.R101H missense 0.00000824●●●●●●
64. 147230570 c.777G>T p.Q259H missense 0.00000824●●●●●●
65. 147230517 c.830G>T p.G277V missense 0.00000824●●●●●●
66. 147230418 c.929A>C p.E310A missense 0.00000824●●●●●●
67. 147230335 c.1012C>T p.H338Y missense 0.00000824●●●●●●
68. 147230605 c.742T>C p.C248R missense 0.00000824●●●●●●
69. 147230533 c.814G>C p.E272Q missense 0.00000824●●●●●●
70. 147231016 c.331G>T p.A111S missense 0.00000824●●●●●●
71. 147230553 c.794C>G p.P265R missense 0.00000824●●●●●●
72. 147230497 c.850A>C p.S284R missense 0.00000824●●●●●●
73. 147230451 c.896A>G p.E299G missense 0.00000824●●●●●●
74. 147230633 c.714T>G p.F238L missense 0.00000824●●●●●●
75. 147231094 c.253G>T p.V85F missense 0.00000824●●●●●●
76. 147230587 c.760T>C p.S254P missense 0.00000824●●●●●●
77. 147230535 c.812T>A p.L271Q missense 0.00000824●●●●●●
78. 147230427 c.920C>T p.T307I missense 0.00000824●●●●●●
79. 147230350 c.997C>T p.L333F missense 0.00000824●●●●●●
80. 147230611 c.736G>A p.A246T missense 0.00000824●●●●●●
81. 147231058 c.289A>G p.M97V missense 0.00000824●●●●●●
82. 147231021 c.326G>A p.R109Q missense 0.00000824●●●●●●
83. 147230556 c.791C>A p.P264H missense 0.00000824●●●●●●
84. 147230508 c.839T>G p.F280C missense 0.00000824●●●●●●
85. 147230405 c.942G>T p.Q314H missense 0.00000824●●●●●●
86. 147230374 c.973A>G p.N325D missense 0.00000824●●●●●●
87. 147231076 c.271G>T p.V91L missense 0.00000824●●●●●●
88. 147230323 c.1024C>G p.R342G missense 0.00000824●●●●●●
89. 147230540 c.807G>C p.Q269H missense 0.00000824●●●●●●
90. 147230531 c.816G>C p.E272D missense 0.00000824●●●●●●
91. 147230434 c.913G>A p.E305K missense 0.00000824●●●●●●
92. 147231048 c.299T>G p.V100G missense 0.00000824●●●●●●
93. 147230458 c.889G>A p.V297I missense 0.00000824●●●●●●
94. 147230353 c.994C>T p.R332C missense 0.00000824●●●●●●
95. 147230612 c.735G>A p.M245I missense 0.00000824●●●●●●
96. 147230560 c.787C>T p.P263S missense 0.00000824●●●●●●
97. 147231067 c.280G>C p.G94R missense 0.00000824●●●●●●
98. 147230512 c.835T>A p.F279I missense 0.00000824●●●●●●
99. 147230409 c.938T>C p.I313T missense 0.00000824●●●●●●
100. 147230599 c.748C>T p.L250F missense 0.00000824●●●●●●
101. 147230526 c.821G>A p.G274D missense 0.00000824●●●●●●
102. 147230553 c.794C>T p.P265L missense 0.00000824●●●●●●
103. 147230532 c.815A>C p.E272A missense 0.00000824●●●●●●
104. 147230463 c.884A>G p.N295S missense 0.00000824●●●●●●
105. 147230442 c.905G>A p.R302Q missense 0.00000824●●●●●●
106. 147230370 c.977G>C p.G326A missense 0.00000824●●●●●●
107. 147230400 c.947G>A p.R316H missense 0.00000824●●●●●●
108. 147230625 c.722C>G p.P241R 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.