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

* 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.