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. 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. 14183151 c.1059C>G p.F353L missense 0.00003295●●●●●●
38. 14183113 c.1021C>T p.R341X nonsense 0.00003295●●●●●●
39. 14170997 c.98C>T p.S33L missense 0.00003295●●●●●●
40. 14180711 c.914C>A p.S305Y 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. 14176340 c.654C>G p.I218M missense 0.00002473●●●●●●
47. 14183204 c.1112A>G p.Y371C missense 0.00002473●●●●●●
48. 14176350 c.664G>A p.G222R missense 0.00002473●●●●●●
49. 14176332 c.646G>T p.V216L missense 0.00002472●●●●●●
50. 14183134 c.1042C>G p.L348V missense 0.00002471●●●●●●
51. 14175304 c.578C>G p.S193W missense 0.00002471●●●●●●
52. 14183114 c.1022G>A p.R341Q missense 0.00002471●●●●●●
53. 14174410 c.487C>T p.R163X nonsense 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. 14172440 c.281C>T p.A94V missense 0.00001668●●●●●●
61. 14183269 c.1177C>T p.R393W missense 0.00001668●●●●●●
62. 14183270 c.1178G>A p.R393Q 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. 14170939 c.40C>T p.H14Y missense 0.00001648●●●●●●
71. 14174420 c.497G>C p.G166A missense 0.00001648●●●●●●
72. 14180695 c.898G>T p.E300X nonsense 0.00001648●●●●●●
73. 14170930 c.31C>G p.R11G missense 0.00001648●●●●●●
74. 14183126 c.1034A>G p.N345S missense 0.00001648●●●●●●
75. 14176332 c.646G>A p.V216M missense 0.00001648●●●●●●
76. 14183118 c.1026C>A p.D342E missense 0.00001648●●●●●●
77. 14180691 c.894T>G p.H298Q missense 0.00001648●●●●●●
78. 14176331 c.645T>G p.H215Q missense 0.00001648●●●●●●
79. 14180799 c.1000+2T>C essential splice site 0.00001647●●●●●●
80. 14180780 c.983G>A p.R328Q missense 0.00001647●●●●●●
81. 14180753 c.956T>C p.M319T missense 0.00001647●●●●●●
82. 14180774 c.977T>C p.M326T missense 0.00001647●●●●●●
83. 14180779 c.982C>T p.R328W 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. 14176710 c.758C>G p.P253R missense 0.00000840●●●●●●
90. 14172457 c.297+1G>A essential splice site 0.00000840●●●●●●
91. 14172455 c.296A>G p.K99R missense 0.00000840●●●●●●
92. 14173131 c.349_350insG p.His118AlafsTer11 frameshift 0.00000839●●●●●●
93. 14176657 c.706-1G>T essential splice site 0.00000838●●●●●●
94. 14173099 c.317A>G p.Y106C missense 0.00000838●●●●●●
95. 14176657 c.706-1G>C essential splice site 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. 14176683 c.731C>T p.S244F missense 0.00000834●●●●●●
101. 14176673 c.721G>A p.V241I missense 0.00000834●●●●●●
102. 14176686 c.734A>G p.Y245C missense 0.00000834●●●●●●
103. 14176677 c.725C>T p.S242F 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. 14172373 c.214G>A p.V72M missense 0.00000827●●●●●●
112. 14172350 c.191T>G p.L64W missense 0.00000827●●●●●●
113. 14172359 c.200G>C p.G67A missense 0.00000827●●●●●●
114. 14172387 c.228C>G p.S76R missense 0.00000827●●●●●●
115. 14172328 c.169G>T p.A57S missense 0.00000827●●●●●●
116. 14177337 c.811C>T p.Gln271Ter nonsense 0.00000826●●●●●●
117. 14177329 c.803G>A p.R268Q missense 0.00000826●●●●●●
118. 14177388 c.862C>T p.H288Y missense 0.00000826●●●●●●
119. 14170912 c.13T>C p.Y5H missense 0.00000826●●●●●●
120. 14174086 c.433T>C p.Y145H missense 0.00000826●●●●●●
121. 14171061 c.162G>C p.E54D missense 0.00000825●●●●●●
122. 14170913 c.14A>G p.Y5C missense 0.00000825●●●●●●
123. 14177379 c.853C>T p.L285F missense 0.00000825●●●●●●
124. 14183227 c.1135A>G p.I379V missense 0.00000825●●●●●●
125. 14174063 c.410G>C p.G137A missense 0.00000825●●●●●●
126. 14170916 c.17C>G p.S6C missense 0.00000825●●●●●●
127. 14183233 c.1141G>A p.G381S missense 0.00000825●●●●●●
128. 14177370 c.844A>C p.T282P missense 0.00000825●●●●●●
129. 14183236 c.1144C>G p.L382V missense 0.00000825●●●●●●
130. 14183224 c.1132C>G p.L378V missense 0.00000825●●●●●●
131. 14183242 c.1150C>T p.L384F missense 0.00000825●●●●●●
132. 14183182 c.1090G>A p.V364M missense 0.00000824●●●●●●
133. 14175270 c.544G>A p.A182T missense 0.00000824●●●●●●
134. 14180743 c.946T>A p.W316R missense 0.00000824●●●●●●
135. 14170931 c.32G>A p.R11Q missense 0.00000824●●●●●●
136. 14183120 c.1028T>C p.L343P missense 0.00000824●●●●●●
137. 14183206 c.1114C>T p.R372X nonsense 0.00000824●●●●●●
138. 14175241 c.515C>T p.A172V missense 0.00000824●●●●●●
139. 14183126 c.1034A>C p.N345T missense 0.00000824●●●●●●
140. 14174404 c.481delT p.Phe161SerfsTer46 frameshift 0.00000824●●●●●●
141. 14170982 c.83G>A p.R28Q missense 0.00000824●●●●●●
142. 14176332 c.646G>C p.V216L missense 0.00000824●●●●●●
143. 14176368 c.682A>G p.S228G missense 0.00000824●●●●●●
144. 14171035 c.136T>C p.S46P missense 0.00000824●●●●●●
145. 14183105 c.1013C>T p.P338L missense 0.00000824●●●●●●
146. 14183202 c.1110C>G p.F370L missense 0.00000824●●●●●●
147. 14175274 c.548C>G p.P183R missense 0.00000824●●●●●●
148. 14175244 c.518T>C p.M173T missense 0.00000824●●●●●●
149. 14171037 c.138_140delCTT p.Phe47del inframe 0.00000824●●●●●●
150. 14170946 c.47A>G p.K16R missense 0.00000824●●●●●●
151. 14174423 c.500A>G p.H167R missense 0.00000824●●●●●●
152. 14180702 c.905G>C p.R302T missense 0.00000824●●●●●●
153. 14174390 c.467T>G p.I156S missense 0.00000824●●●●●●
154. 14180770 c.973C>T p.L325F missense 0.00000824●●●●●●
155. 14180702 c.905G>A p.R302K missense 0.00000824●●●●●●
156. 14174436 c.512+1G>T essential splice site 0.00000824●●●●●●
157. 14170920 c.21T>G p.S7R missense 0.00000824●●●●●●
158. 14176372 c.686A>G p.E229G missense 0.00000824●●●●●●
159. 14176348 c.662G>A p.R221H missense 0.00000824●●●●●●
160. 14183153 c.1061G>T p.C354F missense 0.00000824●●●●●●
161. 14175286 c.560T>C p.I187T missense 0.00000824●●●●●●
162. 14176288 c.602A>G p.D201G missense 0.00000824●●●●●●
163. 14180678 c.883-2A>C essential splice site 0.00000824●●●●●●
164. 14170936 c.37G>A p.E13K missense 0.00000824●●●●●●
165. 14183209 c.1117C>A p.P373T missense 0.00000824●●●●●●
166. 14176341 c.655A>G p.I219V missense 0.00000824●●●●●●
167. 14170955 c.56C>G p.T19S missense 0.00000824●●●●●●
168. 14183131 c.1039G>T p.G347C missense 0.00000824●●●●●●
169. 14175263 c.537G>A p.M179I missense 0.00000824●●●●●●
170. 14183102 c.1010T>A p.F337Y missense 0.00000824●●●●●●
171. 14176345 c.659G>T p.R220L missense 0.00000824●●●●●●
172. 14170948 c.49G>A p.V17I missense 0.00000824●●●●●●
173. 14176390 c.704A>C p.E235A missense 0.00000824●●●●●●
174. 14171017 c.118C>G p.L40V missense 0.00000824●●●●●●
175. 14183204 c.1112A>C p.Y371S missense 0.00000824●●●●●●
176. 14175300 c.574C>T p.L192F missense 0.00000824●●●●●●
177. 14183123 c.1031T>G p.V344G missense 0.00000824●●●●●●
178. 14174407 c.484G>T p.D162Y missense 0.00000824●●●●●●
179. 14180692 c.895A>G p.R299G missense 0.00000824●●●●●●
180. 14170979 c.80A>G p.E27G missense 0.00000824●●●●●●
181. 14175304 c.578C>A p.S193X nonsense 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.