TMEM43 non-truncating variants in ExAC

TMEM43 gene summary
TMEM43 variants in DCM

The table below lists the TMEM43 non-truncating 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 frequency▼Populations*
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. 14170997 c.98C>T p.S33L missense 0.00003295●●●●●●
39. 14183151 c.1059C>G p.F353L missense 0.00003295●●●●●●
40. 14173126 c.344T>C p.L115P missense 0.00002511●●●●●●
41. 14176695 c.743T>C p.L248P missense 0.00002506●●●●●●
42. 14176670 c.718C>G p.R240G missense 0.00002504●●●●●●
43. 14172403 c.244C>G p.P82A missense 0.00002484●●●●●●
44. 14174093 c.440A>T p.Y147F missense 0.00002477●●●●●●
45. 14176350 c.664G>A p.G222R missense 0.00002473●●●●●●
46. 14183204 c.1112A>G p.Y371C missense 0.00002473●●●●●●
47. 14176340 c.654C>G p.I218M missense 0.00002473●●●●●●
48. 14176332 c.646G>T p.V216L missense 0.00002472●●●●●●
49. 14183114 c.1022G>A p.R341Q missense 0.00002471●●●●●●
50. 14175304 c.578C>G p.S193W missense 0.00002471●●●●●●
51. 14183134 c.1042C>G p.L348V missense 0.00002471●●●●●●
52. 14176730 c.778G>A p.V260M missense 0.00001710●●●●●●
53. 14176724 c.772G>C p.A258P missense 0.00001697●●●●●●
54. 14173137 c.355G>A p.V119M missense 0.00001682●●●●●●
55. 14173134 c.352C>T p.H118Y missense 0.00001679●●●●●●
56. 14173128 c.346C>T p.R116W missense 0.00001676●●●●●●
57. 14176703 c.751G>A p.D251N missense 0.00001674●●●●●●
58. 14183270 c.1178G>A p.R393Q missense 0.00001668●●●●●●
59. 14172440 c.281C>T p.A94V missense 0.00001668●●●●●●
60. 14183269 c.1177C>T p.R393W missense 0.00001668●●●●●●
61. 14172434 c.275T>C p.I92T missense 0.00001664●●●●●●
62. 14172367 c.208C>T p.L70F missense 0.00001654●●●●●●
63. 14177371 c.845C>A p.T282N missense 0.00001650●●●●●●
64. 14174059 c.406G>A p.D136N missense 0.00001650●●●●●●
65. 14176386 c.700C>T p.P234S missense 0.00001649●●●●●●
66. 14174054 c.401C>A p.T134N missense 0.00001649●●●●●●
67. 14183207 c.1115G>A p.R372Q missense 0.00001649●●●●●●
68. 14170939 c.40C>T p.H14Y missense 0.00001648●●●●●●
69. 14174420 c.497G>C p.G166A missense 0.00001648●●●●●●
70. 14183118 c.1026C>A p.D342E missense 0.00001648●●●●●●
71. 14180691 c.894T>G p.H298Q missense 0.00001648●●●●●●
72. 14170930 c.31C>G p.R11G missense 0.00001648●●●●●●
73. 14176331 c.645T>G p.H215Q missense 0.00001648●●●●●●
74. 14183126 c.1034A>G p.N345S missense 0.00001648●●●●●●
75. 14176332 c.646G>A p.V216M missense 0.00001648●●●●●●
76. 14180753 c.956T>C p.M319T missense 0.00001647●●●●●●
77. 14180774 c.977T>C p.M326T missense 0.00001647●●●●●●
78. 14180780 c.983G>A p.R328Q missense 0.00001647●●●●●●
79. 14180779 c.982C>T p.R328W missense 0.00001647●●●●●●
80. 14166694 c.1A>G p.Met1? missense 0.00001088●●●●●●
81. 14166695 c.2T>A p.Met1? missense 0.00001088●●●●●●
82. 14173170 c.388T>C p.S130P missense 0.00000871●●●●●●
83. 14173081 c.299T>A p.L100H missense 0.00000852●●●●●●
84. 14176710 c.758C>G p.P253R missense 0.00000840●●●●●●
85. 14172455 c.296A>G p.K99R missense 0.00000840●●●●●●
86. 14173099 c.317A>G p.Y106C missense 0.00000838●●●●●●
87. 14173114 c.332C>T p.P111L missense 0.00000836●●●●●●
88. 14183272 c.1180G>A p.V394M missense 0.00000835●●●●●●
89. 14176671 c.719G>C p.R240P missense 0.00000835●●●●●●
90. 14176686 c.734A>G p.Y245C missense 0.00000834●●●●●●
91. 14176677 c.725C>T p.S242F missense 0.00000834●●●●●●
92. 14176683 c.731C>T p.S244F missense 0.00000834●●●●●●
93. 14176673 c.721G>A p.V241I missense 0.00000834●●●●●●
94. 14172432 c.273C>G p.I91M missense 0.00000832●●●●●●
95. 14183264 c.1172G>A p.R391Q missense 0.00000831●●●●●●
96. 14172424 c.265G>C p.V89L missense 0.00000830●●●●●●
97. 14172412 c.253G>A p.E85K missense 0.00000829●●●●●●
98. 14172410 c.251A>G p.N84S missense 0.00000829●●●●●●
99. 14172416 c.257G>A p.G86E missense 0.00000829●●●●●●
100. 14172350 c.191T>G p.L64W missense 0.00000827●●●●●●
101. 14172359 c.200G>C p.G67A missense 0.00000827●●●●●●
102. 14172373 c.214G>A p.V72M missense 0.00000827●●●●●●
103. 14172387 c.228C>G p.S76R missense 0.00000827●●●●●●
104. 14172328 c.169G>T p.A57S missense 0.00000827●●●●●●
105. 14170912 c.13T>C p.Y5H missense 0.00000826●●●●●●
106. 14174086 c.433T>C p.Y145H missense 0.00000826●●●●●●
107. 14177329 c.803G>A p.R268Q missense 0.00000826●●●●●●
108. 14177388 c.862C>T p.H288Y missense 0.00000826●●●●●●
109. 14183242 c.1150C>T p.L384F missense 0.00000825●●●●●●
110. 14171061 c.162G>C p.E54D missense 0.00000825●●●●●●
111. 14183224 c.1132C>G p.L378V missense 0.00000825●●●●●●
112. 14170913 c.14A>G p.Y5C missense 0.00000825●●●●●●
113. 14177379 c.853C>T p.L285F missense 0.00000825●●●●●●
114. 14174063 c.410G>C p.G137A missense 0.00000825●●●●●●
115. 14183233 c.1141G>A p.G381S missense 0.00000825●●●●●●
116. 14183227 c.1135A>G p.I379V missense 0.00000825●●●●●●
117. 14170916 c.17C>G p.S6C missense 0.00000825●●●●●●
118. 14177370 c.844A>C p.T282P missense 0.00000825●●●●●●
119. 14183236 c.1144C>G p.L382V missense 0.00000825●●●●●●
120. 14170920 c.21T>G p.S7R missense 0.00000824●●●●●●
121. 14171017 c.118C>G p.L40V missense 0.00000824●●●●●●
122. 14183209 c.1117C>A p.P373T missense 0.00000824●●●●●●
123. 14175300 c.574C>T p.L192F missense 0.00000824●●●●●●
124. 14170979 c.80A>G p.E27G missense 0.00000824●●●●●●
125. 14176345 c.659G>T p.R220L missense 0.00000824●●●●●●
126. 14183153 c.1061G>T p.C354F missense 0.00000824●●●●●●
127. 14175270 c.544G>A p.A182T missense 0.00000824●●●●●●
128. 14180702 c.905G>A p.R302K missense 0.00000824●●●●●●
129. 14170948 c.49G>A p.V17I missense 0.00000824●●●●●●
130. 14176368 c.682A>G p.S228G missense 0.00000824●●●●●●
131. 14183105 c.1013C>T p.P338L missense 0.00000824●●●●●●
132. 14183204 c.1112A>C p.Y371S missense 0.00000824●●●●●●
133. 14171035 c.136T>C p.S46P missense 0.00000824●●●●●●
134. 14183123 c.1031T>G p.V344G missense 0.00000824●●●●●●
135. 14170931 c.32G>A p.R11Q missense 0.00000824●●●●●●
136. 14183131 c.1039G>T p.G347C missense 0.00000824●●●●●●
137. 14170982 c.83G>A p.R28Q missense 0.00000824●●●●●●
138. 14170946 c.47A>G p.K16R missense 0.00000824●●●●●●
139. 14174423 c.500A>G p.H167R missense 0.00000824●●●●●●
140. 14180702 c.905G>C p.R302T missense 0.00000824●●●●●●
141. 14183182 c.1090G>A p.V364M missense 0.00000824●●●●●●
142. 14175274 c.548C>G p.P183R missense 0.00000824●●●●●●
143. 14183120 c.1028T>C p.L343P missense 0.00000824●●●●●●
144. 14176372 c.686A>G p.E229G missense 0.00000824●●●●●●
145. 14176288 c.602A>G p.D201G missense 0.00000824●●●●●●
146. 14183126 c.1034A>C p.N345T missense 0.00000824●●●●●●
147. 14174390 c.467T>G p.I156S missense 0.00000824●●●●●●
148. 14175241 c.515C>T p.A172V missense 0.00000824●●●●●●
149. 14175244 c.518T>C p.M173T missense 0.00000824●●●●●●
150. 14171037 c.138_140delCTT p.Phe47del inframe 0.00000824●●●●●●
151. 14176348 c.662G>A p.R221H missense 0.00000824●●●●●●
152. 14170955 c.56C>G p.T19S missense 0.00000824●●●●●●
153. 14176332 c.646G>C p.V216L missense 0.00000824●●●●●●
154. 14183202 c.1110C>G p.F370L missense 0.00000824●●●●●●
155. 14175286 c.560T>C p.I187T missense 0.00000824●●●●●●
156. 14183102 c.1010T>A p.F337Y missense 0.00000824●●●●●●
157. 14176390 c.704A>C p.E235A missense 0.00000824●●●●●●
158. 14170936 c.37G>A p.E13K missense 0.00000824●●●●●●
159. 14176341 c.655A>G p.I219V missense 0.00000824●●●●●●
160. 14175263 c.537G>A p.M179I missense 0.00000824●●●●●●
161. 14174407 c.484G>T p.D162Y missense 0.00000824●●●●●●
162. 14180743 c.946T>A p.W316R missense 0.00000824●●●●●●
163. 14180692 c.895A>G p.R299G missense 0.00000824●●●●●●
164. 14180770 c.973C>T p.L325F 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.