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

* 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.