RBM20 missense variants in ExAC

RBM20 gene summary
RBM20 variants in DCM

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