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. 14174066 c.413A>G p.Q138R missense 0.00008248●●●●●●
4. 14174056 c.403G>A p.E135K 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. 14180711 c.914C>A p.S305Y missense 0.00003295●●●●●●
40. 14170997 c.98C>T p.S33L 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. 14174410 c.487C>T p.R163X nonsense 0.00002471●●●●●●
53. 14183114 c.1022G>A p.R341Q missense 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. 14176386 c.700C>T p.P234S missense 0.00001649●●●●●●
68. 14183207 c.1115G>A p.R372Q missense 0.00001649●●●●●●
69. 14174054 c.401C>A p.T134N missense 0.00001649●●●●●●
70. 14176332 c.646G>A p.V216M missense 0.00001648●●●●●●
71. 14174420 c.497G>C p.G166A missense 0.00001648●●●●●●
72. 14180695 c.898G>T p.E300X nonsense 0.00001648●●●●●●
73. 14180691 c.894T>G p.H298Q missense 0.00001648●●●●●●
74. 14183118 c.1026C>A p.D342E missense 0.00001648●●●●●●
75. 14183126 c.1034A>G p.N345S missense 0.00001648●●●●●●
76. 14170939 c.40C>T p.H14Y missense 0.00001648●●●●●●
77. 14170930 c.31C>G p.R11G 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. 14180753 c.956T>C p.M319T missense 0.00001647●●●●●●
81. 14180780 c.983G>A p.R328Q missense 0.00001647●●●●●●
82. 14180774 c.977T>C p.M326T missense 0.00001647●●●●●●
83. 14180779 c.982C>T p.R328W missense 0.00001647●●●●●●
84. 14166695 c.2T>A p.Met1? missense 0.00001088●●●●●●
85. 14166694 c.1A>G 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. 14172455 c.296A>G p.K99R missense 0.00000840●●●●●●
91. 14172457 c.297+1G>A essential splice site 0.00000840●●●●●●
92. 14173131 c.349_350insG p.His118AlafsTer11 frameshift 0.00000839●●●●●●
93. 14176657 c.706-1G>T essential splice site 0.00000838●●●●●●
94. 14176657 c.706-1G>C essential splice site 0.00000838●●●●●●
95. 14173099 c.317A>G p.Y106C missense 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.719G>C p.R240P missense 0.00000835●●●●●●
99. 14176671 c.719_720insT p.Val241CysfsTer12 frameshift 0.00000835●●●●●●
100. 14176686 c.734A>G p.Y245C missense 0.00000834●●●●●●
101. 14176683 c.731C>T p.S244F missense 0.00000834●●●●●●
102. 14176673 c.721G>A p.V241I 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. 14172387 c.228C>G p.S76R missense 0.00000827●●●●●●
112. 14172328 c.169G>T p.A57S missense 0.00000827●●●●●●
113. 14172373 c.214G>A p.V72M missense 0.00000827●●●●●●
114. 14172350 c.191T>G p.L64W missense 0.00000827●●●●●●
115. 14172359 c.200G>C p.G67A missense 0.00000827●●●●●●
116. 14177329 c.803G>A p.R268Q missense 0.00000826●●●●●●
117. 14174086 c.433T>C p.Y145H missense 0.00000826●●●●●●
118. 14170912 c.13T>C p.Y5H missense 0.00000826●●●●●●
119. 14177388 c.862C>T p.H288Y missense 0.00000826●●●●●●
120. 14177337 c.811C>T p.Gln271Ter nonsense 0.00000826●●●●●●
121. 14170916 c.17C>G p.S6C missense 0.00000825●●●●●●
122. 14177379 c.853C>T p.L285F missense 0.00000825●●●●●●
123. 14183227 c.1135A>G p.I379V missense 0.00000825●●●●●●
124. 14171061 c.162G>C p.E54D missense 0.00000825●●●●●●
125. 14177370 c.844A>C p.T282P missense 0.00000825●●●●●●
126. 14183236 c.1144C>G p.L382V missense 0.00000825●●●●●●
127. 14170913 c.14A>G p.Y5C missense 0.00000825●●●●●●
128. 14174063 c.410G>C p.G137A missense 0.00000825●●●●●●
129. 14183233 c.1141G>A p.G381S missense 0.00000825●●●●●●
130. 14183242 c.1150C>T p.L384F missense 0.00000825●●●●●●
131. 14183224 c.1132C>G p.L378V missense 0.00000825●●●●●●
132. 14183182 c.1090G>A p.V364M missense 0.00000824●●●●●●
133. 14180702 c.905G>C p.R302T missense 0.00000824●●●●●●
134. 14180770 c.973C>T p.L325F missense 0.00000824●●●●●●
135. 14183206 c.1114C>T p.R372X nonsense 0.00000824●●●●●●
136. 14170955 c.56C>G p.T19S missense 0.00000824●●●●●●
137. 14170948 c.49G>A p.V17I missense 0.00000824●●●●●●
138. 14183126 c.1034A>C p.N345T missense 0.00000824●●●●●●
139. 14176368 c.682A>G p.S228G missense 0.00000824●●●●●●
140. 14175274 c.548C>G p.P183R missense 0.00000824●●●●●●
141. 14174404 c.481delT p.Phe161SerfsTer46 frameshift 0.00000824●●●●●●
142. 14171017 c.118C>G p.L40V missense 0.00000824●●●●●●
143. 14183202 c.1110C>G p.F370L missense 0.00000824●●●●●●
144. 14170936 c.37G>A p.E13K missense 0.00000824●●●●●●
145. 14183102 c.1010T>A p.F337Y missense 0.00000824●●●●●●
146. 14176345 c.659G>T p.R220L missense 0.00000824●●●●●●
147. 14171037 c.138_140delCTT p.Phe47del inframe 0.00000824●●●●●●
148. 14174423 c.500A>G p.H167R missense 0.00000824●●●●●●
149. 14170979 c.80A>G p.E27G missense 0.00000824●●●●●●
150. 14180702 c.905G>A p.R302K missense 0.00000824●●●●●●
151. 14176348 c.662G>A p.R221H missense 0.00000824●●●●●●
152. 14176372 c.686A>G p.E229G missense 0.00000824●●●●●●
153. 14174436 c.512+1G>T essential splice site 0.00000824●●●●●●
154. 14176288 c.602A>G p.D201G missense 0.00000824●●●●●●
155. 14175286 c.560T>C p.I187T missense 0.00000824●●●●●●
156. 14175304 c.578C>A p.S193X nonsense 0.00000824●●●●●●
157. 14183153 c.1061G>T p.C354F missense 0.00000824●●●●●●
158. 14180678 c.883-2A>C essential splice site 0.00000824●●●●●●
159. 14176341 c.655A>G p.I219V missense 0.00000824●●●●●●
160. 14175263 c.537G>A p.M179I missense 0.00000824●●●●●●
161. 14183105 c.1013C>T p.P338L missense 0.00000824●●●●●●
162. 14170931 c.32G>A p.R11Q missense 0.00000824●●●●●●
163. 14183120 c.1028T>C p.L343P missense 0.00000824●●●●●●
164. 14170982 c.83G>A p.R28Q missense 0.00000824●●●●●●
165. 14183209 c.1117C>A p.P373T missense 0.00000824●●●●●●
166. 14183131 c.1039G>T p.G347C missense 0.00000824●●●●●●
167. 14176390 c.704A>C p.E235A missense 0.00000824●●●●●●
168. 14175241 c.515C>T p.A172V missense 0.00000824●●●●●●
169. 14175300 c.574C>T p.L192F missense 0.00000824●●●●●●
170. 14174407 c.484G>T p.D162Y missense 0.00000824●●●●●●
171. 14176332 c.646G>C p.V216L missense 0.00000824●●●●●●
172. 14170946 c.47A>G p.K16R missense 0.00000824●●●●●●
173. 14171035 c.136T>C p.S46P missense 0.00000824●●●●●●
174. 14183204 c.1112A>C p.Y371S missense 0.00000824●●●●●●
175. 14180692 c.895A>G p.R299G missense 0.00000824●●●●●●
176. 14183123 c.1031T>G p.V344G missense 0.00000824●●●●●●
177. 14174390 c.467T>G p.I156S missense 0.00000824●●●●●●
178. 14170920 c.21T>G p.S7R missense 0.00000824●●●●●●
179. 14175270 c.544G>A p.A182T missense 0.00000824●●●●●●
180. 14175244 c.518T>C p.M173T missense 0.00000824●●●●●●
181. 14180743 c.946T>A p.W316R 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.