RBM20 variants in ExAC

RBM20 gene summary
RBM20 variants in DCM

The table below lists the RBM20 variants found in the ExAC population database. 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. 112572458 c.2303G>C p.W768S missense 0.99678013●●●●●●
2. 112590810 c.3452-9G>C splice site 0.98800000●●●●●●
3. 112595719 c.3667G>C p.E1223Q missense 0.76368029●●●●●●
4. 112544655 c.1527+8C>T splice site 0.16401874●●●●●●
5. 112570130 c.1801-11G>C splice site 0.04981976●●●●●●
6. 112581547 c.3170G>A p.R1057Q missense 0.01901999●●●●●●
7. 112404334 c.122_123insGCA p.Met41_Gln42insGln inframe 0.01414413●●●●●●
8. 112541062 c.695G>A p.G232D missense 0.00855920●●●●●●
9. 112540884 c.517C>A p.P173T missense 0.00727048●●●●●●
10. 112544125 c.1364C>T p.S455L missense 0.00483067●●●●●●
11. 112583294 c.3373G>A p.E1125K missense 0.00373272●●●●●●
12. 112581039 c.2662G>A p.D888N missense 0.00283654●●●●●●
13. 112540815 c.448G>A p.A150T missense 0.00228812●●●●●●
14. 112541460 c.1093G>A p.G365R missense 0.00225056●●●●●●
15. 112404343 c.131C>A p.P44Q missense 0.00221484●●●●●●
16. 112572033 c.1881-3C>T splice site 0.00218009●●●●●●
17. 112541047 c.680G>T p.G227V missense 0.00208970●●●●●●
18. 112572458 c.2303G>T p.W768L missense 0.00202392●●●●●●
19. 112572368 c.2213C>T p.P738L missense 0.00130954●●●●●●
20. 112590809 c.3452-10C>T splice site 0.00126582●●●●●●
21. 112581424 c.3047G>C p.G1016A missense 0.00119573●●●●●●
22. 112570222 c.1880+2_1880+3insGAG essential splice site 0.00102354●●●●●●
23. 112572473 c.2318A>G p.K773R missense 0.00101852●●●●●●
24. 112540897 c.530C>T p.T177I missense 0.00096909●●●●●●
25. 112541152 c.785C>G p.T262S missense 0.00096653●●●●●●
26. 112543134 c.1286T>C p.L429P missense 0.00093441●●●●●●
27. 112581642 c.3265C>G p.P1089A missense 0.00087873●●●●●●
28. 112541539 c.1172T>C p.V391A missense 0.00086949●●●●●●
29. 112541502 c.1135G>A p.G379R missense 0.00086798●●●●●●
30. 112572244 c.2089G>A p.G697R missense 0.00085513●●●●●●
31. 112595636 c.3584C>A p.S1195Y missense 0.00066131●●●●●●
32. 112581643 c.3266C>G p.P1089R missense 0.00060135●●●●●●
33. 112541577 c.1210G>A p.G404S missense 0.00055233●●●●●●
34. 112572607 c.2452G>T p.A818S missense 0.00051894●●●●●●
35. 112581642 c.3265C>A p.P1089T missense 0.00050874●●●●●●
36. 112541217 c.850G>A p.G284R missense 0.00045989●●●●●●
37. 112572151 c.1996C>T p.R666W missense 0.00044464●●●●●●
38. 112557325 c.1587C>G p.S529R missense 0.00032045●●●●●●
39. 112572302 c.2147G>A p.R716Q missense 0.00030033●●●●●●
40. 112541394 c.1027C>T p.H343Y missense 0.00029285●●●●●●
41. 112541538 c.1171G>A p.V391M missense 0.00027432●●●●●●
42. 112581330 c.2953C>T p.P985S missense 0.00027120●●●●●●
43. 112572173 c.2018G>A p.R673Q missense 0.00026821●●●●●●
44. 112581220 c.2843G>A p.C948Y missense 0.00022946●●●●●●
45. 112581264 c.2887A>G p.K963E missense 0.00022600●●●●●●
46. 112572583 c.2428A>G p.K810E missense 0.00021542●●●●●●
47. 112572356 c.2201G>A p.R734Q missense 0.00019606●●●●●●
48. 112540896 c.529A>T p.T177S missense 0.00019307●●●●●●
49. 112404255 c.43G>C p.G15R missense 0.00018741●●●●●●
50. 112557291 c.1553G>A p.R518H missense 0.00018448●●●●●●
51. 112572113 c.1958C>T p.T653I missense 0.00016839●●●●●●
52. 112572159 c.2004C>A p.D668E missense 0.00016453●●●●●●
53. 112590884 c.3517G>A p.E1173K missense 0.00015144●●●●●●
54. 112579830 c.2551G>A p.A851T missense 0.00014759●●●●●●
55. 112540591 c.224C>T p.S75L missense 0.00014590●●●●●●
56. 112541424 c.1057G>A p.E353K missense 0.00014443●●●●●●
57. 112572394 c.2239C>T p.H747Y missense 0.00014288●●●●●●
58. 112572527 c.2372G>T p.R791L missense 0.00013991●●●●●●
59. 112581583 c.3206G>C p.R1069T missense 0.00013838●●●●●●
60. 112581546 c.3169C>T p.R1057W missense 0.00013808●●●●●●
61. 112581424 c.3047G>A p.G1016D missense 0.00013797●●●●●●
62. 112572077 c.1922G>A p.R641Q missense 0.00011755●●●●●●
63. 112404370 c.158C>A p.P53Q missense 0.00011650●●●●●●
64. 112404228 c.16G>A p.A6T missense 0.00010397●●●●●●
65. 112595707 c.3655G>A p.V1219M missense 0.00010387●●●●●●
66. 112572197 c.2042A>G p.Y681C missense 0.00010283●●●●●●
67. 112541267 c.900G>T p.Q300H missense 0.00010203●●●●●●
68. 112544110 c.1349G>A p.R450Q missense 0.00010195●●●●●●
69. 112590912 c.3545G>A p.R1182H missense 0.00010105●●●●●●
70. 112544571 c.1451C>T p.T484I missense 0.00010091●●●●●●
71. 112572323 c.2168T>C p.L723S missense 0.00009981●●●●●●
72. 112404315 c.103C>T p.P35S missense 0.00009954●●●●●●
73. 112572652 c.2497A>G p.R833G missense 0.00009804●●●●●●
74. 112540900 c.533G>A p.R178Q missense 0.00009730●●●●●●
75. 112541418 c.1051G>A p.D351N missense 0.00009692●●●●●●
76. 112579840 c.2561_2566delAGGAAC p.Gln856_Glu857del inframe 0.00009572●●●●●●
77. 112572548 c.2393C>T p.P798L missense 0.00009516●●●●●●
78. 112404248 c.36C>A p.D12E missense 0.00009480●●●●●●
79. 112557267 c.1529T>C p.F510S missense 0.00009390●●●●●●
80. 112404254 c.42C>G p.S14R missense 0.00009388●●●●●●
81. 112579858 c.2579A>G p.E860G missense 0.00009305●●●●●●
82. 112572517 c.2362G>T p.A788S missense 0.00009303●●●●●●
83. 112572493 c.2338G>A p.G780R missense 0.00009277●●●●●●
84. 112570198 c.1858G>A p.D620N missense 0.00009256●●●●●●
85. 112572459 c.2304G>A p.W768X nonsense 0.00009244●●●●●●
86. 112581138 c.2761A>G p.I921V missense 0.00009206●●●●●●
87. 112581492 c.3115C>T p.P1039S missense 0.00009191●●●●●●
88. 112541505 c.1138C>T p.R380W missense 0.00009134●●●●●●
89. 112581282 c.2905G>A p.V969I missense 0.00009016●●●●●●
90. 112572632 c.2477A>G p.N826S missense 0.00008581●●●●●●
91. 112572619 c.2464C>A p.Q822K missense 0.00007590●●●●●●
92. 112572617 c.2462A>G p.K821R missense 0.00007390●●●●●●
93. 112572051 c.1896G>C p.R632S missense 0.00007135●●●●●●
94. 112572053 c.1898C>T p.P633L missense 0.00006948●●●●●●
95. 112572607 c.2452G>A p.A818T missense 0.00006487●●●●●●
96. 112572076 c.1921C>T p.R641W missense 0.00005912●●●●●●
97. 112572086 c.1931C>G p.S644C missense 0.00005795●●●●●●
98. 112572089 c.1934C>T p.P645L missense 0.00005747●●●●●●
99. 112572139 c.1984C>T p.P662S missense 0.00005638●●●●●●
100. 112572130 c.1975C>T p.H659Y missense 0.00005636●●●●●●
101. 112572149 c.1994C>G p.S665C missense 0.00005565●●●●●●
102. 112572154 c.1999G>C p.A667P missense 0.00005521●●●●●●
103. 112572172 c.2017C>T p.R673W missense 0.00005395●●●●●●
104. 112595719 c.3667G>A p.E1223K missense 0.00005252●●●●●●
105. 112595713 c.3661C>T p.R1221C missense 0.00005245●●●●●●
106. 112544088 c.1338-11G>A splice site 0.00005127●●●●●●
107. 112541233 c.866G>T p.G289V missense 0.00005112●●●●●●
108. 112541008 c.641T>C p.L214S missense 0.00005106●●●●●●
109. 112541210 c.843T>A p.D281E missense 0.00005104●●●●●●
110. 112595668 c.3616G>A p.E1206K missense 0.00005104●●●●●●
111. 112541269 c.902C>T p.A301V missense 0.00005100●●●●●●
112. 112541275 c.908G>C p.G303A missense 0.00005098●●●●●●
113. 112544110 c.1349G>T p.R450L missense 0.00005097●●●●●●
114. 112540980 c.613C>A p.Q205K missense 0.00005093●●●●●●
115. 112595653 c.3601G>A p.G1201S missense 0.00005091●●●●●●
116. 112541077 c.710G>T p.G237V missense 0.00005090●●●●●●
117. 112572571 c.2416G>A p.G806R missense 0.00005089●●●●●●
118. 112541140 c.773C>T p.S258L missense 0.00005089●●●●●●
119. 112544119 c.1358T>G p.L453R missense 0.00005088●●●●●●
120. 112544121 c.1360G>T p.G454C missense 0.00005088●●●●●●
121. 112541091 c.724C>T p.P242S missense 0.00005087●●●●●●
122. 112595647 c.3595G>A p.E1199K missense 0.00005086●●●●●●
123. 112541142 c.775G>T p.G259C missense 0.00005086●●●●●●
124. 112541109 c.742C>A p.P248T missense 0.00005086●●●●●●
125. 112541128 c.761C>T p.S254L missense 0.00005085●●●●●●
126. 112544185 c.1424A>G p.N475S missense 0.00005083●●●●●●
127. 112572218 c.2063G>A p.R688Q missense 0.00005078●●●●●●
128. 112544161 c.1400C>G p.T467R missense 0.00005076●●●●●●
129. 112572224 c.2069C>G p.P690R missense 0.00005065●●●●●●
130. 112590845 c.3478G>A p.G1160S missense 0.00005054●●●●●●
131. 112544634 c.1514C>T p.S505F missense 0.00005054●●●●●●
132. 112590883 c.3516C>A p.S1172R missense 0.00005048●●●●●●
133. 112544579 c.1459G>A p.V487M missense 0.00005045●●●●●●
134. 112544574 c.1454C>T p.S485L missense 0.00005045●●●●●●
135. 112544564 c.1444C>G p.L482V missense 0.00005045●●●●●●
136. 112572278 c.2123C>G p.A708G missense 0.00005016●●●●●●
137. 112572308 c.2153T>C p.L718P missense 0.00004999●●●●●●
138. 112540934 c.567G>T p.Q189H missense 0.00004984●●●●●●
139. 112572332 c.2177G>T p.R726L missense 0.00004971●●●●●●
140. 112541344 c.977C>T p.S326L missense 0.00004941●●●●●●
141. 112540922 c.555C>A p.N185K missense 0.00004930●●●●●●
142. 112583231 c.3317-7T>A splice site 0.00004930●●●●●●
143. 112541371 c.1004C>T p.A335V missense 0.00004901●●●●●●
144. 112540908 c.541G>A p.G181R missense 0.00004896●●●●●●
145. 112541381 c.1014G>A p.M338I missense 0.00004882●●●●●●
146. 112572386 c.2231A>G p.N744S missense 0.00004791●●●●●●
147. 112572418 c.2263C>T p.R755C missense 0.00004717●●●●●●
148. 112572437 c.2282G>A p.R761Q missense 0.00004686●●●●●●
149. 112581050 c.2673T>G p.S891R missense 0.00004679●●●●●●
150. 112583252 c.3331G>A p.V1111M missense 0.00004665●●●●●●
151. 112572454 c.2299A>G p.K767E missense 0.00004662●●●●●●
152. 112557275 c.1537C>T p.R513W missense 0.00004660●●●●●●
153. 112572456 c.2301G>T p.K767N missense 0.00004659●●●●●●
154. 112572517 c.2362G>A p.A788T missense 0.00004652●●●●●●
155. 112581692 c.3315G>A splice site 0.00004650●●●●●●
156. 112572512 c.2357A>G p.D786G missense 0.00004647●●●●●●
157. 112572484 c.2329G>A p.D777N missense 0.00004634●●●●●●
158. 112583265 c.3344C>A p.S1115Y missense 0.00004631●●●●●●
159. 112581655 c.3278A>T p.D1093V missense 0.00004628●●●●●●
160. 112581603 c.3226G>T p.A1076S missense 0.00004617●●●●●●
161. 112570147 c.1807G>A p.G603R missense 0.00004617●●●●●●
162. 112570154 c.1814C>T p.A605V missense 0.00004616●●●●●●
163. 112581594 c.3217G>A p.E1073K missense 0.00004616●●●●●●
164. 112579912 c.2633C>T p.P878L missense 0.00004614●●●●●●
165. 112581589 c.3212C>T p.T1071I missense 0.00004613●●●●●●
166. 112579897 c.2618C>G p.A873G missense 0.00004610●●●●●●
167. 112581081 c.2704C>A p.P902T missense 0.00004609●●●●●●
168. 112540754 c.387G>A p.M129I missense 0.00004609●●●●●●
169. 112583342 c.3421G>A p.D1141N missense 0.00004608●●●●●●
170. 112540680 c.313C>G p.L105V missense 0.00004608●●●●●●
171. 112581546 c.3169C>G p.R1057G missense 0.00004603●●●●●●
172. 112581203 c.2826C>G p.C942W missense 0.00004602●●●●●●
173. 112581427 c.3050T>C p.L1017P missense 0.00004599●●●●●●
174. 112581207 c.2830G>A p.E944K missense 0.00004599●●●●●●
175. 112581408 c.3031G>C p.A1011P missense 0.00004599●●●●●●
176. 112581399 c.3022C>T p.R1008W missense 0.00004597●●●●●●
177. 112581216 c.2839C>A p.L947M missense 0.00004596●●●●●●
178. 112581469 c.3092G>T p.G1031V missense 0.00004596●●●●●●
179. 112581394 c.3017C>T p.A1006V missense 0.00004594●●●●●●
180. 112581502 c.3125C>T p.T1042I missense 0.00004593●●●●●●
181. 112581510 c.3133C>G p.Q1045E missense 0.00004593●●●●●●
182. 112541487 c.1120G>T p.G374C missense 0.00004587●●●●●●
183. 112541542 c.1175G>A p.R392Q missense 0.00004581●●●●●●
184. 112541545 c.1178C>G p.P393R missense 0.00004581●●●●●●
185. 112540848 c.481A>C p.S161R missense 0.00004579●●●●●●
186. 112581232 c.2855C>T p.T952I missense 0.00004579●●●●●●
187. 112540809 c.442G>A p.G148S missense 0.00004577●●●●●●
188. 112540845 c.478C>G p.P160A missense 0.00004574●●●●●●
189. 112581374 c.2997G>A p.M999I missense 0.00004572●●●●●●
190. 112541506 c.1139G>A p.R380Q missense 0.00004569●●●●●●
191. 112541503 c.1136G>A p.G379E missense 0.00004567●●●●●●
192. 112541511 c.1144G>T p.A382S missense 0.00004563●●●●●●
193. 112557414 c.1668+8T>G splice site 0.00004518●●●●●●
194. 112557371 c.1633G>A p.V545I missense 0.00004516●●●●●●
195. 112581282 c.2905G>T p.V969L missense 0.00004508●●●●●●
196. 112559588 c.1712T>G p.V571G missense 0.00004472●●●●●●
197. 112543160 c.1312C>G p.Q438E missense 0.00004458●●●●●●
198. 112543158 c.1310C>A p.A437D missense 0.00004456●●●●●●
199. 112559642 c.1766G>T p.R589L missense 0.00004415●●●●●●
200. 112559642 c.1766G>A p.R589Q missense 0.00004415●●●●●●
201. 112559638 c.1762A>G p.I588V missense 0.00004414●●●●●●

* 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.