TMEM43 protein-altering variants in ExAC


The table below lists the TMEM43 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. 14172424 c.265G>A p.V89M missense 0.00009134
2. 14170930 c.31C>T p.R11W missense 0.00009065
3. 14174056 c.403G>A p.E135K missense 0.00008248
4. 14174066 c.413A>G p.Q138R missense 0.00008248
5. 14174407 c.484G>A p.D162N missense 0.00008238
6. 14173129 c.347G>A p.R116Q missense 0.00007555
7. 14177323 c.797G>A p.R266Q missense 0.00007440
8. 14177322 c.796C>T p.R266W missense 0.00006614
9. 14170990 c.91G>A p.E31K missense 0.00006590
10. 14172439 c.280G>A p.A94T missense 0.00005837
11. 14172430 c.271A>G p.I91V missense 0.00005820
12. 14172365 c.206C>T p.S69L missense 0.00005789
13. 14177329 c.803G>T p.R268L missense 0.00005783
14. 14183242 c.1150C>G p.L384V missense 0.00005778
15. 14172446 c.287G>C p.R96P missense 0.00005022
16. 14172325 c.166C>T p.R56C missense 0.00004966
17. 14172328 c.169G>A p.A57T missense 0.00004964
18. 14176365 c.679C>G p.H227D missense 0.00004946
19. 14171020 c.121A>G p.M41V missense 0.00004943
20. 14173119 c.337G>A p.V113M missense 0.00004181
21. 14176700 c.748G>A p.G250S missense 0.00004179
22. 14172404 c.245C>T p.P82L missense 0.00004141
23. 14172326 c.167G>A p.R56H missense 0.00004137
24. 14177379 c.853C>A p.L285I missense 0.00004126
25. 14176345 c.659G>A p.R220H missense 0.00004121
26. 14176347 c.661C>T p.R221C missense 0.00004121
27. 14173143 c.361A>G p.M121V missense 0.00003378
28. 14173092 c.310C>G p.P104A missense 0.00003363
29. 14172446 c.287G>A p.R96Q missense 0.00003348
30. 14176694 c.742C>A p.L248M missense 0.00003339
31. 14176671 c.719G>A p.R240H missense 0.00003338
32. 14172428 c.269A>G p.H90R missense 0.00003324
33. 14183251 c.1159A>G p.I387V missense 0.00003305
34. 14174081 c.428C>T p.T143M missense 0.00003302
35. 14174070 c.417_419delGAA p.Lys141del inframe 0.00003300
36. 14176344 c.658C>T p.R220C missense 0.00003297
37. 14180711 c.914C>A p.S305Y missense 0.00003295
38. 14183151 c.1059C>G p.F353L missense 0.00003295
39. 14183113 c.1021C>T p.R341X nonsense 0.00003295
40. 14170997 c.98C>T p.S33L missense 0.00003295
41. 14173126 c.344T>C p.L115P missense 0.00002511
42. 14176695 c.743T>C p.L248P missense 0.00002506
43. 14176670 c.718C>G p.R240G missense 0.00002504
44. 14172403 c.244C>G p.P82A missense 0.00002484
45. 14174093 c.440A>T p.Y147F missense 0.00002477
46. 14176350 c.664G>A p.G222R missense 0.00002473
47. 14176340 c.654C>G p.I218M missense 0.00002473
48. 14183204 c.1112A>G p.Y371C missense 0.00002473
49. 14176332 c.646G>T p.V216L missense 0.00002472
50. 14174410 c.487C>T p.R163X nonsense 0.00002471
51. 14183134 c.1042C>G p.L348V missense 0.00002471
52. 14175304 c.578C>G p.S193W missense 0.00002471
53. 14183114 c.1022G>A p.R341Q missense 0.00002471
54. 14176730 c.778G>A p.V260M missense 0.00001710
55. 14176724 c.772G>C p.A258P missense 0.00001697
56. 14173137 c.355G>A p.V119M missense 0.00001682
57. 14173134 c.352C>T p.H118Y missense 0.00001679
58. 14173128 c.346C>T p.R116W missense 0.00001676
59. 14176703 c.751G>A p.D251N missense 0.00001674
60. 14183270 c.1178G>A p.R393Q missense 0.00001668
61. 14172440 c.281C>T p.A94V missense 0.00001668
62. 14183269 c.1177C>T p.R393W missense 0.00001668
63. 14172434 c.275T>C p.I92T missense 0.00001664
64. 14172367 c.208C>T p.L70F missense 0.00001654
65. 14174059 c.406G>A p.D136N missense 0.00001650
66. 14177371 c.845C>A p.T282N missense 0.00001650
67. 14174054 c.401C>A p.T134N missense 0.00001649
68. 14183207 c.1115G>A p.R372Q missense 0.00001649
69. 14176386 c.700C>T p.P234S missense 0.00001649
70. 14183118 c.1026C>A p.D342E missense 0.00001648
71. 14180691 c.894T>G p.H298Q missense 0.00001648
72. 14176331 c.645T>G p.H215Q missense 0.00001648
73. 14170939 c.40C>T p.H14Y missense 0.00001648
74. 14174420 c.497G>C p.G166A missense 0.00001648
75. 14180695 c.898G>T p.E300X nonsense 0.00001648
76. 14170930 c.31C>G p.R11G missense 0.00001648
77. 14183126 c.1034A>G p.N345S missense 0.00001648
78. 14176332 c.646G>A p.V216M missense 0.00001648
79. 14180779 c.982C>T p.R328W missense 0.00001647
80. 14180799 c.1000+2T>C essential splice site 0.00001647
81. 14180780 c.983G>A p.R328Q missense 0.00001647
82. 14180753 c.956T>C p.M319T missense 0.00001647
83. 14180774 c.977T>C p.M326T missense 0.00001647
84. 14166694 c.1A>G p.Met1? missense 0.00001088
85. 14166695 c.2T>A p.Met1? missense 0.00001088
86. 14173170 c.388T>C p.S130P missense 0.00000871
87. 14173081 c.299T>A p.L100H missense 0.00000852
88. 14173153 c.371delG p.Val125Ter frameshift 0.00000849
89. 14172455 c.296A>G p.K99R missense 0.00000840
90. 14172457 c.297+1G>A essential splice site 0.00000840
91. 14176710 c.758C>G p.P253R missense 0.00000840
92. 14173131 c.349_350insG p.His118AlafsTer11 frameshift 0.00000839
93. 14176657 c.706-1G>C essential splice site 0.00000838
94. 14176657 c.706-1G>T essential splice site 0.00000838
95. 14173099 c.317A>G p.Y106C missense 0.00000838
96. 14173114 c.332C>T p.P111L missense 0.00000836
97. 14183272 c.1180G>A p.V394M missense 0.00000835
98. 14176671 c.719_720insT p.Val241CysfsTer12 frameshift 0.00000835
99. 14176671 c.719G>C p.R240P missense 0.00000835
100. 14176686 c.734A>G p.Y245C missense 0.00000834
101. 14176677 c.725C>T p.S242F missense 0.00000834
102. 14176683 c.731C>T p.S244F missense 0.00000834
103. 14176673 c.721G>A p.V241I missense 0.00000834
104. 14172432 c.273C>G p.I91M missense 0.00000832
105. 14183264 c.1172G>A p.R391Q missense 0.00000831
106. 14172424 c.265G>C p.V89L missense 0.00000830
107. 14172412 c.253G>A p.E85K missense 0.00000829
108. 14172410 c.251A>G p.N84S missense 0.00000829
109. 14172416 c.257G>A p.G86E missense 0.00000829
110. 14172320 c.163-2A>G essential splice site 0.00000828
111. 14172328 c.169G>T p.A57S missense 0.00000827
112. 14172373 c.214G>A p.V72M missense 0.00000827
113. 14172350 c.191T>G p.L64W missense 0.00000827
114. 14172359 c.200G>C p.G67A missense 0.00000827
115. 14172387 c.228C>G p.S76R missense 0.00000827
116. 14170912 c.13T>C p.Y5H missense 0.00000826
117. 14174086 c.433T>C p.Y145H missense 0.00000826
118. 14177337 c.811C>T p.Gln271Ter nonsense 0.00000826
119. 14177329 c.803G>A p.R268Q missense 0.00000826
120. 14177388 c.862C>T p.H288Y missense 0.00000826
121. 14183236 c.1144C>G p.L382V missense 0.00000825
122. 14183242 c.1150C>T p.L384F missense 0.00000825
123. 14183224 c.1132C>G p.L378V missense 0.00000825
124. 14171061 c.162G>C p.E54D missense 0.00000825
125. 14170913 c.14A>G p.Y5C missense 0.00000825
126. 14177379 c.853C>T p.L285F missense 0.00000825
127. 14183227 c.1135A>G p.I379V missense 0.00000825
128. 14174063 c.410G>C p.G137A missense 0.00000825
129. 14170916 c.17C>G p.S6C missense 0.00000825
130. 14183233 c.1141G>A p.G381S missense 0.00000825
131. 14177370 c.844A>C p.T282P missense 0.00000825
132. 14183209 c.1117C>A p.P373T missense 0.00000824
133. 14176341 c.655A>G p.I219V missense 0.00000824
134. 14170955 c.56C>G p.T19S missense 0.00000824
135. 14170936 c.37G>A p.E13K missense 0.00000824
136. 14176345 c.659G>T p.R220L missense 0.00000824
137. 14183131 c.1039G>T p.G347C missense 0.00000824
138. 14175263 c.537G>A p.M179I missense 0.00000824
139. 14183102 c.1010T>A p.F337Y missense 0.00000824
140. 14170948 c.49G>A p.V17I missense 0.00000824
141. 14171017 c.118C>G p.L40V missense 0.00000824
142. 14176390 c.704A>C p.E235A missense 0.00000824
143. 14183204 c.1112A>C p.Y371S missense 0.00000824
144. 14175300 c.574C>T p.L192F missense 0.00000824
145. 14183123 c.1031T>G p.V344G missense 0.00000824
146. 14174407 c.484G>T p.D162Y missense 0.00000824
147. 14180692 c.895A>G p.R299G missense 0.00000824
148. 14170979 c.80A>G p.E27G missense 0.00000824
149. 14175304 c.578C>A p.S193X nonsense 0.00000824
150. 14175270 c.544G>A p.A182T missense 0.00000824
151. 14183182 c.1090G>A p.V364M missense 0.00000824
152. 14183120 c.1028T>C p.L343P missense 0.00000824
153. 14180743 c.946T>A p.W316R missense 0.00000824
154. 14170931 c.32G>A p.R11Q missense 0.00000824
155. 14183206 c.1114C>T p.R372X nonsense 0.00000824
156. 14183126 c.1034A>C p.N345T missense 0.00000824
157. 14175241 c.515C>T p.A172V missense 0.00000824
158. 14174404 c.481delT p.Phe161SerfsTer46 frameshift 0.00000824
159. 14176332 c.646G>C p.V216L missense 0.00000824
160. 14176368 c.682A>G p.S228G missense 0.00000824
161. 14170982 c.83G>A p.R28Q missense 0.00000824
162. 14175274 c.548C>G p.P183R missense 0.00000824
163. 14171035 c.136T>C p.S46P missense 0.00000824
164. 14183105 c.1013C>T p.P338L missense 0.00000824
165. 14183202 c.1110C>G p.F370L missense 0.00000824
166. 14175244 c.518T>C p.M173T missense 0.00000824
167. 14171037 c.138_140delCTT p.Phe47del inframe 0.00000824
168. 14170946 c.47A>G p.K16R missense 0.00000824
169. 14174423 c.500A>G p.H167R missense 0.00000824
170. 14180702 c.905G>C p.R302T missense 0.00000824
171. 14174390 c.467T>G p.I156S missense 0.00000824
172. 14180702 c.905G>A p.R302K missense 0.00000824
173. 14180770 c.973C>T p.L325F missense 0.00000824
174. 14170920 c.21T>G p.S7R missense 0.00000824
175. 14174436 c.512+1G>T essential splice site 0.00000824
176. 14176372 c.686A>G p.E229G missense 0.00000824
177. 14176348 c.662G>A p.R221H missense 0.00000824
178. 14176288 c.602A>G p.D201G missense 0.00000824
179. 14183153 c.1061G>T p.C354F missense 0.00000824
180. 14175286 c.560T>C p.I187T missense 0.00000824
181. 14180678 c.883-2A>C essential splice site 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.