TMEM43 missense variants in ExAC

TMEM43 gene summary
TMEM43 variants in DCM

The table below lists the TMEM43 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. 14175262 c.536T>C p.M179T missense 0.37236584●●●●●●
2. 14174427 c.504A>T p.K168N missense 0.32086637●●●●●●
3. 14180731 c.934C>T p.R312W missense 0.00904567●●●●●●
4. 14170981 c.82C>T p.R28W missense 0.00289136●●●●●●
5. 14176384 c.698A>G p.Y233C missense 0.00204428●●●●●●
6. 14180750 c.953C>T p.A318V missense 0.00185353●●●●●●
7. 14183188 c.1096G>A p.A366T missense 0.00168106●●●●●●
8. 14177355 c.829A>T p.T277S missense 0.00096538●●●●●●
9. 14183203 c.1111T>C p.Y371H missense 0.00078303●●●●●●
10. 14170988 c.89G>A p.S30N missense 0.00053548●●●●●●
11. 14180693 c.896G>C p.R299T missense 0.00052730●●●●●●
12. 14174077 c.424G>A p.E142K missense 0.00048672●●●●●●
13. 14183153 c.1061G>C p.C354S missense 0.00046133●●●●●●
14. 14172445 c.286C>G p.R96G missense 0.00022568●●●●●●
15. 14172323 c.164G>A p.G55D missense 0.00022350●●●●●●
16. 14180744 c.947G>C p.W316S missense 0.00020594●●●●●●
17. 14176378 c.692C>T p.P231L missense 0.00018959●●●●●●
18. 14173105 c.323T>C p.V108A missense 0.00015898●●●●●●
19. 14176670 c.718C>T p.R240C missense 0.00014192●●●●●●
20. 14177328 c.802C>T p.R268W missense 0.00014048●●●●●●
21. 14176287 c.601G>A p.D201N missense 0.00012359●●●●●●
22. 14177391 c.865G>A p.G289R missense 0.00011561●●●●●●
23. 14183177 c.1085T>G p.L362R missense 0.00011535●●●●●●
24. 14183197 c.1105C>T p.L369F missense 0.00010714●●●●●●
25. 14174411 c.488G>A p.R163Q missense 0.00010709●●●●●●
26. 14172424 c.265G>A p.V89M missense 0.00009134●●●●●●
27. 14170930 c.31C>T p.R11W missense 0.00009065●●●●●●
28. 14174056 c.403G>A p.E135K missense 0.00008248●●●●●●
29. 14174066 c.413A>G p.Q138R missense 0.00008248●●●●●●
30. 14174407 c.484G>A p.D162N missense 0.00008238●●●●●●
31. 14173129 c.347G>A p.R116Q missense 0.00007555●●●●●●
32. 14177323 c.797G>A p.R266Q missense 0.00007440●●●●●●
33. 14177322 c.796C>T p.R266W missense 0.00006614●●●●●●
34. 14170990 c.91G>A p.E31K missense 0.00006590●●●●●●
35. 14172439 c.280G>A p.A94T missense 0.00005837●●●●●●
36. 14172430 c.271A>G p.I91V missense 0.00005820●●●●●●
37. 14172365 c.206C>T p.S69L missense 0.00005789●●●●●●
38. 14177329 c.803G>T p.R268L missense 0.00005783●●●●●●
39. 14183242 c.1150C>G p.L384V missense 0.00005778●●●●●●
40. 14172446 c.287G>C p.R96P missense 0.00005022●●●●●●
41. 14172325 c.166C>T p.R56C missense 0.00004966●●●●●●
42. 14172328 c.169G>A p.A57T missense 0.00004964●●●●●●
43. 14176365 c.679C>G p.H227D missense 0.00004946●●●●●●
44. 14171020 c.121A>G p.M41V missense 0.00004943●●●●●●
45. 14173119 c.337G>A p.V113M missense 0.00004181●●●●●●
46. 14176700 c.748G>A p.G250S missense 0.00004179●●●●●●
47. 14172404 c.245C>T p.P82L missense 0.00004141●●●●●●
48. 14172326 c.167G>A p.R56H missense 0.00004137●●●●●●
49. 14177379 c.853C>A p.L285I missense 0.00004126●●●●●●
50. 14176347 c.661C>T p.R221C missense 0.00004121●●●●●●
51. 14176345 c.659G>A p.R220H missense 0.00004121●●●●●●
52. 14173143 c.361A>G p.M121V missense 0.00003378●●●●●●
53. 14173092 c.310C>G p.P104A missense 0.00003363●●●●●●
54. 14172446 c.287G>A p.R96Q missense 0.00003348●●●●●●
55. 14176694 c.742C>A p.L248M missense 0.00003339●●●●●●
56. 14176671 c.719G>A p.R240H missense 0.00003338●●●●●●
57. 14172428 c.269A>G p.H90R missense 0.00003324●●●●●●
58. 14183251 c.1159A>G p.I387V missense 0.00003305●●●●●●
59. 14174081 c.428C>T p.T143M missense 0.00003302●●●●●●
60. 14176344 c.658C>T p.R220C missense 0.00003297●●●●●●
61. 14180711 c.914C>A p.S305Y missense 0.00003295●●●●●●
62. 14170997 c.98C>T p.S33L missense 0.00003295●●●●●●
63. 14183151 c.1059C>G p.F353L missense 0.00003295●●●●●●
64. 14173126 c.344T>C p.L115P missense 0.00002511●●●●●●
65. 14176695 c.743T>C p.L248P missense 0.00002506●●●●●●
66. 14176670 c.718C>G p.R240G missense 0.00002504●●●●●●
67. 14172403 c.244C>G p.P82A missense 0.00002484●●●●●●
68. 14174093 c.440A>T p.Y147F missense 0.00002477●●●●●●
69. 14183204 c.1112A>G p.Y371C missense 0.00002473●●●●●●
70. 14176350 c.664G>A p.G222R missense 0.00002473●●●●●●
71. 14176340 c.654C>G p.I218M missense 0.00002473●●●●●●
72. 14176332 c.646G>T p.V216L missense 0.00002472●●●●●●
73. 14183114 c.1022G>A p.R341Q missense 0.00002471●●●●●●
74. 14183134 c.1042C>G p.L348V missense 0.00002471●●●●●●
75. 14175304 c.578C>G p.S193W missense 0.00002471●●●●●●
76. 14176730 c.778G>A p.V260M missense 0.00001710●●●●●●
77. 14176724 c.772G>C p.A258P missense 0.00001697●●●●●●
78. 14173137 c.355G>A p.V119M missense 0.00001682●●●●●●
79. 14173134 c.352C>T p.H118Y missense 0.00001679●●●●●●
80. 14173128 c.346C>T p.R116W missense 0.00001676●●●●●●
81. 14176703 c.751G>A p.D251N missense 0.00001674●●●●●●
82. 14183269 c.1177C>T p.R393W missense 0.00001668●●●●●●
83. 14183270 c.1178G>A p.R393Q missense 0.00001668●●●●●●
84. 14172440 c.281C>T p.A94V missense 0.00001668●●●●●●
85. 14172434 c.275T>C p.I92T missense 0.00001664●●●●●●
86. 14172367 c.208C>T p.L70F missense 0.00001654●●●●●●
87. 14174059 c.406G>A p.D136N missense 0.00001650●●●●●●
88. 14177371 c.845C>A p.T282N missense 0.00001650●●●●●●
89. 14174054 c.401C>A p.T134N missense 0.00001649●●●●●●
90. 14176386 c.700C>T p.P234S missense 0.00001649●●●●●●
91. 14183207 c.1115G>A p.R372Q missense 0.00001649●●●●●●
92. 14170930 c.31C>G p.R11G missense 0.00001648●●●●●●
93. 14180691 c.894T>G p.H298Q missense 0.00001648●●●●●●
94. 14176331 c.645T>G p.H215Q missense 0.00001648●●●●●●
95. 14183118 c.1026C>A p.D342E missense 0.00001648●●●●●●
96. 14174420 c.497G>C p.G166A missense 0.00001648●●●●●●
97. 14176332 c.646G>A p.V216M missense 0.00001648●●●●●●
98. 14170939 c.40C>T p.H14Y missense 0.00001648●●●●●●
99. 14183126 c.1034A>G p.N345S missense 0.00001648●●●●●●
100. 14180753 c.956T>C p.M319T missense 0.00001647●●●●●●
101. 14180780 c.983G>A p.R328Q missense 0.00001647●●●●●●
102. 14180774 c.977T>C p.M326T missense 0.00001647●●●●●●
103. 14180779 c.982C>T p.R328W missense 0.00001647●●●●●●
104. 14166694 c.1A>G p.Met1? missense 0.00001088●●●●●●
105. 14166695 c.2T>A p.Met1? missense 0.00001088●●●●●●
106. 14173170 c.388T>C p.S130P missense 0.00000871●●●●●●
107. 14173081 c.299T>A p.L100H missense 0.00000852●●●●●●
108. 14172455 c.296A>G p.K99R missense 0.00000840●●●●●●
109. 14176710 c.758C>G p.P253R missense 0.00000840●●●●●●
110. 14173099 c.317A>G p.Y106C missense 0.00000838●●●●●●
111. 14173114 c.332C>T p.P111L missense 0.00000836●●●●●●
112. 14176671 c.719G>C p.R240P missense 0.00000835●●●●●●
113. 14183272 c.1180G>A p.V394M missense 0.00000835●●●●●●
114. 14176683 c.731C>T p.S244F missense 0.00000834●●●●●●
115. 14176673 c.721G>A p.V241I missense 0.00000834●●●●●●
116. 14176677 c.725C>T p.S242F missense 0.00000834●●●●●●
117. 14176686 c.734A>G p.Y245C missense 0.00000834●●●●●●
118. 14172432 c.273C>G p.I91M missense 0.00000832●●●●●●
119. 14183264 c.1172G>A p.R391Q missense 0.00000831●●●●●●
120. 14172424 c.265G>C p.V89L missense 0.00000830●●●●●●
121. 14172412 c.253G>A p.E85K missense 0.00000829●●●●●●
122. 14172410 c.251A>G p.N84S missense 0.00000829●●●●●●
123. 14172416 c.257G>A p.G86E missense 0.00000829●●●●●●
124. 14172350 c.191T>G p.L64W missense 0.00000827●●●●●●
125. 14172359 c.200G>C p.G67A missense 0.00000827●●●●●●
126. 14172387 c.228C>G p.S76R missense 0.00000827●●●●●●
127. 14172328 c.169G>T p.A57S missense 0.00000827●●●●●●
128. 14172373 c.214G>A p.V72M missense 0.00000827●●●●●●
129. 14174086 c.433T>C p.Y145H missense 0.00000826●●●●●●
130. 14177329 c.803G>A p.R268Q missense 0.00000826●●●●●●
131. 14177388 c.862C>T p.H288Y missense 0.00000826●●●●●●
132. 14170912 c.13T>C p.Y5H missense 0.00000826●●●●●●
133. 14171061 c.162G>C p.E54D missense 0.00000825●●●●●●
134. 14170913 c.14A>G p.Y5C missense 0.00000825●●●●●●
135. 14177379 c.853C>T p.L285F missense 0.00000825●●●●●●
136. 14183236 c.1144C>G p.L382V missense 0.00000825●●●●●●
137. 14170916 c.17C>G p.S6C missense 0.00000825●●●●●●
138. 14177370 c.844A>C p.T282P missense 0.00000825●●●●●●
139. 14183242 c.1150C>T p.L384F missense 0.00000825●●●●●●
140. 14183224 c.1132C>G p.L378V missense 0.00000825●●●●●●
141. 14174063 c.410G>C p.G137A missense 0.00000825●●●●●●
142. 14183233 c.1141G>A p.G381S missense 0.00000825●●●●●●
143. 14183227 c.1135A>G p.I379V missense 0.00000825●●●●●●
144. 14176372 c.686A>G p.E229G missense 0.00000824●●●●●●
145. 14176348 c.662G>A p.R221H missense 0.00000824●●●●●●
146. 14183202 c.1110C>G p.F370L missense 0.00000824●●●●●●
147. 14176288 c.602A>G p.D201G missense 0.00000824●●●●●●
148. 14175286 c.560T>C p.I187T missense 0.00000824●●●●●●
149. 14174407 c.484G>T p.D162Y missense 0.00000824●●●●●●
150. 14180770 c.973C>T p.L325F missense 0.00000824●●●●●●
151. 14170920 c.21T>G p.S7R missense 0.00000824●●●●●●
152. 14183209 c.1117C>A p.P373T missense 0.00000824●●●●●●
153. 14176341 c.655A>G p.I219V missense 0.00000824●●●●●●
154. 14170982 c.83G>A p.R28Q missense 0.00000824●●●●●●
155. 14180702 c.905G>C p.R302T missense 0.00000824●●●●●●
156. 14183153 c.1061G>T p.C354F missense 0.00000824●●●●●●
157. 14183131 c.1039G>T p.G347C missense 0.00000824●●●●●●
158. 14175263 c.537G>A p.M179I missense 0.00000824●●●●●●
159. 14180702 c.905G>A p.R302K missense 0.00000824●●●●●●
160. 14170946 c.47A>G p.K16R missense 0.00000824●●●●●●
161. 14175300 c.574C>T p.L192F missense 0.00000824●●●●●●
162. 14183123 c.1031T>G p.V344G missense 0.00000824●●●●●●
163. 14175241 c.515C>T p.A172V missense 0.00000824●●●●●●
164. 14171035 c.136T>C p.S46P missense 0.00000824●●●●●●
165. 14170948 c.49G>A p.V17I missense 0.00000824●●●●●●
166. 14175270 c.544G>A p.A182T missense 0.00000824●●●●●●
167. 14176332 c.646G>C p.V216L missense 0.00000824●●●●●●
168. 14183105 c.1013C>T p.P338L missense 0.00000824●●●●●●
169. 14176390 c.704A>C p.E235A missense 0.00000824●●●●●●
170. 14170936 c.37G>A p.E13K missense 0.00000824●●●●●●
171. 14183204 c.1112A>C p.Y371S missense 0.00000824●●●●●●
172. 14170955 c.56C>G p.T19S missense 0.00000824●●●●●●
173. 14183126 c.1034A>C p.N345T missense 0.00000824●●●●●●
174. 14183102 c.1010T>A p.F337Y missense 0.00000824●●●●●●
175. 14174390 c.467T>G p.I156S missense 0.00000824●●●●●●
176. 14183120 c.1028T>C p.L343P missense 0.00000824●●●●●●
177. 14176368 c.682A>G p.S228G missense 0.00000824●●●●●●
178. 14171017 c.118C>G p.L40V missense 0.00000824●●●●●●
179. 14183182 c.1090G>A p.V364M missense 0.00000824●●●●●●
180. 14175274 c.548C>G p.P183R missense 0.00000824●●●●●●
181. 14180743 c.946T>A p.W316R missense 0.00000824●●●●●●
182. 14175244 c.518T>C p.M173T missense 0.00000824●●●●●●
183. 14170979 c.80A>G p.E27G missense 0.00000824●●●●●●
184. 14176345 c.659G>T p.R220L missense 0.00000824●●●●●●
185. 14174423 c.500A>G p.H167R missense 0.00000824●●●●●●
186. 14180692 c.895A>G p.R299G missense 0.00000824●●●●●●
187. 14170931 c.32G>A p.R11Q 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.