DSG2 protein-altering variants in ExAC

DSG2 gene summary
DSG2 variants in DCM

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 frequency▼Populations*
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●●●●●●