DSG2 protein-altering variants in ExAC


The table below lists the DSG2 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 frequencyPopulations*
1. 29104436 c.716T>C p.V239A missense 0.00009137
2. 29099782 c.98A>C p.N33T missense 0.00009135
3. 29126632 c.3283C>A p.H1095N missense 0.00008290
4. 29126630 c.3281G>T p.G1094V missense 0.00008290
5. 29126308 c.2959G>T p.V987F missense 0.00007586
6. 29125946 c.2597C>T p.A866V missense 0.00007501
7. 29118750 c.1688T>G p.L563R missense 0.00007460
8. 29101169 c.486T>A p.D162E missense 0.00007457
9. 29104712 c.875G>A p.R292H missense 0.00007455
10. 29111178 c.1243G>A p.A415T missense 0.00007454
11. 29122673 c.2192A>C p.Q731P missense 0.00007452
12. 29100818 c.269C>T p.T90I missense 0.00006659
13. 29116333 c.1592T>G p.F531C missense 0.00006633
14. 29126467 c.3118G>A p.V1040I missense 0.00006625
15. 29126444 c.3095C>T p.T1032I missense 0.00006625
16. 29115370 c.1418C>T p.S473L missense 0.00006208
17. 29104426 c.706A>G p.T236A missense 0.00005813
18. 29101113 c.430G>A p.E144K missense 0.00005800
19. 29122786 c.2305G>A p.E769K missense 0.00005188
20. 29104526 c.806T>C p.I269T missense 0.00005018
21. 29102067 c.545A>G p.N182S missense 0.00004979
22. 29099892 c.208A>G p.I70V missense 0.00004974
23. 29102123 c.601G>A p.V201I missense 0.00004973
24. 29126389 c.3040G>A p.V1014I missense 0.00004972
25. 29116266 c.1525G>A p.D509N missense 0.00004970
26. 29104699 c.862G>A p.V288I missense 0.00004970
27. 29115244 c.1292T>C p.L431S missense 0.00004848
28. 29125987 c.2638A>C p.N880H missense 0.00004167
29. 29126039 c.2690C>A p.A897D missense 0.00004161
30. 29126388 c.3039C>A p.Tyr1013Ter nonsense 0.00004144
31. 29125820 c.2471G>A p.R824H missense 0.00004142
32. 29116219 c.1478A>G p.N493S missense 0.00004142
33. 29126404 c.3055_3058delAGAG p.Glu1020AlafsTer18 frameshift 0.00004142
34. 29118854 c.1792G>A p.G598S missense 0.00004141
35. 29122514 c.2033G>C p.G678A missense 0.00004141
36. 29122577 c.2096G>T p.S699I missense 0.00004140
37. 29122809 c.2328C>A p.F776L missense 0.00003663
38. 29116384 c.1643G>A p.R548H missense 0.00003448
39. 29104546 c.826_828delGTG p.Val276del inframe 0.00003364
40. 29115256 c.1304A>G p.D435G missense 0.00003346
41. 29125709 c.2360A>G p.D787G missense 0.00003326
42. 29126345 c.2996C>T p.S999L missense 0.00003324
43. 29122723 c.2242G>A p.A748T missense 0.00003317
44. 29102103 c.581C>T p.S194L missense 0.00003317
45. 29126642 c.3293C>G p.S1098C missense 0.00003316
46. 29122715 c.2234C>T p.T745M missense 0.00003315
47. 29125840 c.2491C>T p.L831F missense 0.00003315
48. 29118769 c.1707G>C p.Q569H missense 0.00003314
49. 29116222 c.1481A>C p.D494A missense 0.00003314
50. 29116221 c.1480G>A p.D494N missense 0.00003314
51. 29101128 c.445G>A p.V149I missense 0.00003314
52. 29126575 c.3226G>T p.V1076L missense 0.00003314
53. 29111139 c.1204G>A p.D402N missense 0.00003313
54. 29122565 c.2084C>T p.T695M missense 0.00003313
55. 29104711 c.874C>T p.R292C missense 0.00003313
56. 29126461 c.3112A>G p.I1038V missense 0.00003312
57. 29111130 c.1195G>A p.E399K missense 0.00003312
58. 29115269 c.1317_1318delTG p.Val440GlyfsTer6 frameshift 0.00003173
59. 29115233 c.1281A>T p.R427S missense 0.00002648
60. 29126246 c.2897G>C p.R966T missense 0.00002569
61. 29126297 c.2948G>A p.G983D missense 0.00002541
62. 29126297 c.2948G>T p.G983V missense 0.00002541
63. 29101207 c.523+1G>C essential splice site 0.00002525
64. 29100904 c.355C>T p.R119X nonsense 0.00002524
65. 29125972 c.2623A>G p.M875V missense 0.00002501
66. 29125995 c.2646_2648delCTC p.Ser884del inframe 0.00002500
67. 29125859 c.2510C>A p.A837D missense 0.00002490
68. 29101196 c.513G>T p.L171F missense 0.00002487
69. 29099812 c.128A>G p.H43R missense 0.00002487
70. 29126615 c.3266G>T p.G1089V missense 0.00002487
71. 29104828 c.991G>A p.E331K missense 0.00002487
72. 29125754 c.2405A>G p.E802G missense 0.00002486
73. 29099859 c.175C>T p.R59W missense 0.00002486
74. 29126432 c.3083G>A p.G1028D missense 0.00002485
75. 29118891 c.1829T>C p.L610P missense 0.00002485
76. 29116303 c.1562A>G p.D521G missense 0.00002485
77. 29118899 c.1837G>A p.A613T missense 0.00002485
78. 29104717 c.880A>G p.K294E missense 0.00002485
79. 29101153 c.470C>T p.P157L missense 0.00002485
80. 29118882 c.1820A>G p.Y607C missense 0.00002485
81. 29126490 c.3141_3144delAGAA p.Arg1049PhefsTer2 frameshift 0.00002484
82. 29122592 c.2111T>C p.I704T missense 0.00002484
83. 29122660 c.2179G>A p.G727S missense 0.00002484
84. 29115349 c.1397C>T p.T466I missense 0.00001761
85. 29126218 c.2869C>G p.Q957E missense 0.00001704
86. 29126290 c.2941A>G p.N981D missense 0.00001698
87. 29126302 c.2953G>A p.V985I missense 0.00001690
88. 29100905 c.356G>A p.R119Q missense 0.00001683
89. 29100905 c.356G>T p.R119L missense 0.00001683
90. 29100768 c.219A>G p.I73M missense 0.00001683
91. 29100769 c.220C>T p.H74Y missense 0.00001682
92. 29122754 c.2273C>T p.A758V missense 0.00001671
93. 29126702 c.3353C>T p.S1118F missense 0.00001669
94. 29100794 c.245G>T p.G82V missense 0.00001667
95. 29125965 c.2616G>T p.E872D missense 0.00001667
96. 29125997 c.2648C>T p.S883F missense 0.00001666
97. 29125898 c.2549delA p.Ile851LeufsTer13 frameshift 0.00001666
98. 29100847 c.298G>C p.G100R missense 0.00001665
99. 29126030 c.2681T>G p.L894W missense 0.00001665
100. 29126042 c.2693A>G p.N898S missense 0.00001664
101. 29116353 c.1612C>G p.P538A missense 0.00001664
102. 29102049 c.527C>T p.T176I missense 0.00001664
103. 29104457 c.737G>A p.G246E missense 0.00001663
104. 29104441 c.721G>A p.A241T missense 0.00001662
105. 29126065 c.2716A>G p.I906V missense 0.00001662
106. 29126059 c.2710C>G p.Q904E missense 0.00001662
107. 29099782 c.98A>G p.N33S missense 0.00001661
108. 29104433 c.713C>T p.T238I missense 0.00001661
109. 29122733 c.2252C>T p.T751I missense 0.00001661
110. 29116182 c.1441A>G p.I481V missense 0.00001661
111. 29121225 c.1949C>T p.T650I missense 0.00001660
112. 29126665 c.3316A>G p.R1106G missense 0.00001659
113. 29126093 c.2744G>C p.R915T missense 0.00001659
114. 29126107 c.2758G>T p.V920L missense 0.00001658
115. 29121161 c.1885C>T p.P629S missense 0.00001658
116. 29111007 c.1072G>A p.A358T missense 0.00001657
117. 29116245 c.1504C>T p.P502S missense 0.00001657
118. 29104798 c.961T>A p.F321I missense 0.00001657
119. 29118861 c.1799delG p.Glu601LysfsTer18 frameshift 0.00001657
120. 29099860 c.176G>A p.R59Q missense 0.00001657
121. 29101176 c.493_494insT p.G166Wfs*4 frameshift 0.00001657
122. 29125783 c.2434G>T p.G812C missense 0.00001657
123. 29104814 c.977A>T p.D326V missense 0.00001657
124. 29101149 c.466G>A p.E156K missense 0.00001657
125. 29118806 c.1744G>A p.E582K missense 0.00001657
126. 29125819 c.2470C>G p.R824G missense 0.00001657
127. 29125783 c.2434G>A p.G812S missense 0.00001657
128. 29099829 c.145C>T p.R49C missense 0.00001657
129. 29102199 c.677C>T p.T226I missense 0.00001657
130. 29104801 c.964C>T p.H322Y missense 0.00001657
131. 29101119 c.436C>T p.R146C missense 0.00001657
132. 29125829 c.2480A>G p.D827G missense 0.00001657
133. 29104714 c.877A>T p.I293L missense 0.00001657
134. 29104709 c.872C>T p.T291M missense 0.00001657
135. 29126492 c.3143A>G p.E1048G missense 0.00001656
136. 29126458 c.3109A>G p.N1037D missense 0.00001656
137. 29122516 c.2035G>A p.G679S missense 0.00001656
138. 29122646 c.2165G>A p.R722K missense 0.00001656
139. 29122607 c.2126A>G p.H709R missense 0.00001656
140. 29122528 c.2047G>C p.G683R missense 0.00001656
141. 29111125 c.1190T>C p.V397A missense 0.00001656
142. 29126462 c.3113T>C p.I1038T missense 0.00001656
143. 29122560 c.2079A>C p.E693D missense 0.00001656
144. 29122591 c.2110A>G p.I704V missense 0.00001656
145. 29115250 c.1298A>G p.D433G missense 0.00001159
146. 29115255 c.1303G>C p.D435H missense 0.00001123
147. 29115277 c.1325C>A p.S442Y missense 0.00001023
148. 29115286 c.1334C>A p.S445Y missense 0.00000991
149. 29115295 c.1343A>G p.K448R missense 0.00000969
150. 29115301 c.1349C>T p.A450V missense 0.00000951
151. 29115307 c.1355T>C p.L452P missense 0.00000932
152. 29115315 c.1363T>C p.F455L missense 0.00000912
153. 29115375 c.1423G>C p.D475H missense 0.00000893
154. 29115340 c.1388G>T p.G463V missense 0.00000884
155. 29122789 c.2308G>A p.E770K missense 0.00000873
156. 29116384 c.1643G>T p.R548L missense 0.00000862
157. 29116383 c.1642C>T p.R548C missense 0.00000860
158. 29125918 c.2569C>T p.P857S missense 0.00000857
159. 29126257 c.2908C>T p.P970S missense 0.00000856
160. 29126229 c.2880C>A p.S960R missense 0.00000855
161. 29126229 c.2880C>G p.S960R missense 0.00000855
162. 29126264 c.2915C>T p.S972F missense 0.00000855
163. 29126234 c.2885T>C p.I962T missense 0.00000855
164. 29116377 c.1636A>G p.I546V missense 0.00000851
165. 29126212 c.2863C>T p.P955S missense 0.00000850
166. 29126293 c.2944G>A p.E982K missense 0.00000848
167. 29126300 c.2951C>A p.T984K missense 0.00000846
168. 29126303 c.2954T>G p.V985G missense 0.00000845
169. 29122771 c.2290G>A p.A764T missense 0.00000845
170. 29122768 c.2287G>A p.A763T missense 0.00000843
171. 29101207 c.523+1G>T essential splice site 0.00000842