TMEM43 protein-altering variants in ExAC

TMEM43 gene summary
TMEM43 variants in DCM

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

* 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.