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 | ●●●●●● |