RYR2 missense variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 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. 237872179 c.9923A>G p.N3308S missense 0.00036049●●●●●●
2. 237947931 c.12919C>T p.R4307C missense 0.00022382●●●●●●
3. 237540715 c.556G>A p.V186M missense 0.00004184●●●●●●
4. 237551429 c.719A>G p.H240R missense 0.00000840●●●●●●
5. 237608770 c.1240C>T p.R414C missense 0.00000829●●●●●●
6. 237608788 c.1258C>T p.R420W missense 0.00001658●●●●●●
7. 237617794 c.1396C>G p.P466A missense 0.00011639●●●●●●
8. 237619942 c.1519G>A p.V507I missense 0.00419575●●●●●●
9. 237659822 c.1973A>G p.N658S missense 0.00004144●●●●●●
10. 237711862 c.3038G>A p.R1013Q missense 0.00045710●●●●●●
11. 237713929 c.3152G>A p.R1051H missense 0.00008803●●●●●●
12. 237729972 c.3320C>T p.T1107M missense 0.00032295●●●●●●
13. 237730059 c.3407C>T p.A1136V missense 0.00706336●●●●●●
14. 237755076 c.4198A>G p.S1400G missense 0.01824471●●●●●●
15. 237777474 c.5046A>C p.E1682D missense 0.00002486●●●●●●
16. 237777937 c.5509G>A p.E1837K missense 0.00003324●●●●●●
17. 237778082 c.5654G>A p.G1885E missense 0.01540311●●●●●●
18. 237778084 c.5656G>A p.G1886S missense 0.04384803●●●●●●
19. 237778111 c.5683C>A p.Q1895K missense 0.00000892●●●●●●
20. 237791277 c.6337G>A p.V2113M missense 0.00043210●●●●●●
21. 237801664 c.6800G>A p.R2267H missense 0.00003313●●●●●●
22. 237802462 c.7076G>A p.R2359Q missense 0.00005874●●●●●●
23. 237804256 c.7175A>G p.Y2392C missense 0.00000889●●●●●●
24. 237811912 c.7511C>T p.T2504M missense 0.00008563●●●●●●
25. 237813192 c.7528A>G p.T2510A missense 0.00002488●●●●●●
26. 237814784 c.7807G>A p.A2603T missense 0.00011459●●●●●●
27. 237841390 c.8873A>G p.Q2958R missense 0.25333096●●●●●●
28. 237881790 c.10523T>C p.I3508T missense 0.00003340●●●●●●
29. 237889591 c.10708C>T p.R3570W missense 0.00006211●●●●●●
30. 237890472 c.10811G>T p.R3604L missense 0.00000834●●●●●●
31. 237947904 c.12892G>A p.V4298M missense 0.00000830●●●●●●
32. 237949299 c.13291G>A p.E4431K missense 0.00040787●●●●●●
33. 237954780 c.13528G>A p.A4510T missense 0.00005747●●●●●●
34. 237955507 c.13666G>A p.A4556T missense 0.00002601●●●●●●
35. 237972271 c.14369G>A p.R4790Q missense 0.00000828●●●●●●
36. 237811894 c.7493C>T p.A2498V missense 0.00011592●●●●●●
37. 237608737 c.1207A>G p.I403V missense 0.00000829●●●●●●
38. 237732617 c.3596A>G p.D1199G missense 0.00000932●●●●●●
39. 237791224 c.6284T>C p.I2095T missense 0.00002495●●●●●●
40. 237811752 c.7351G>A p.V2451M missense 0.00001280●●●●●●
41. 237880555 c.10381A>G p.M3461V missense 0.00013671●●●●●●
42. 237659930 c.2081G>A p.R694Q missense 0.00000828●●●●●●
43. 237664164 c.2357G>A p.G786D missense 0.00000828●●●●●●
44. 237664201 c.2394A>G p.I798M missense 0.00001658●●●●●●
45. 237670055 c.2659G>A p.E887K missense 0.00000849●●●●●●
46. 237732452 c.3431G>A p.R1144Q missense 0.00001670●●●●●●
47. 237753215 c.3721G>A p.V1241I missense 0.00024890●●●●●●
48. 237765380 c.4652A>G p.N1551S missense 0.00035087●●●●●●
49. 237806708 c.7303G>T p.V2435F missense 0.00001656●●●●●●
50. 237811896 c.7495G>A p.A2499T missense 0.00024501●●●●●●
51. 237868623 c.9560A>G p.K3187R missense 0.00055332●●●●●●
52. 237895385 c.10975A>C p.K3659Q missense 0.00000830●●●●●●
53. 237947343 c.12331A>C p.N4111H missense 0.00002501●●●●●●
54. 237947871 c.12859T>C p.Y4287H missense 0.00000833●●●●●●
55. 237947956 c.12944G>A p.G4315E missense 0.00002487●●●●●●
56. 237804246 c.7165A>C p.M2389L missense 0.00000889●●●●●●
57. 237947857 c.12845C>T p.A4282V missense 0.00001670●●●●●●
58. 237811860 c.7459C>A p.L2487I missense 0.00005355●●●●●●
59. 237608747 c.1217C>T p.S406L missense 0.00001658●●●●●●
60. 237777856 c.5428G>C p.V1810L missense 0.00008297●●●●●●
61. 237947854 c.12842C>T p.T4281M missense 0.00009195●●●●●●
62. 237955441 c.13600C>T p.P4534S missense 0.00007994●●●●●●
63. 237955553 c.13712C>T p.T4571M missense 0.00000834●●●●●●
64. 237961337 c.13957G>A p.V4653I missense 0.00007794●●●●●●
65. 237433884 c.136C>A p.L46I missense 0.00002188●●●●●●
66. 237550653 c.649A>G p.I217V missense 0.00014078●●●●●●
67. 237586525 c.982G>A p.A328T missense 0.00001674●●●●●●
68. 237604748 c.1135G>A p.V379M missense 0.00025829●●●●●●
69. 237604779 c.1166G>A p.R389H missense 0.00002556●●●●●●
70. 237619934 c.1511G>A p.R504H missense 0.00012476●●●●●●
71. 237656365 c.1939C>T p.R647C missense 0.00016657●●●●●●
72. 237664074 c.2267G>A p.S756N missense 0.00019884●●●●●●
73. 237664196 c.2389G>A p.G797R missense 0.00005801●●●●●●
74. 237670107 c.2711A>G p.Y904C missense 0.00012042●●●●●●
75. 237675024 c.2755G>A p.V919M missense 0.00025134●●●●●●
76. 237711759 c.2935G>T p.A979S missense 0.00016122●●●●●●
77. 237729882 c.3230T>C p.V1077A missense 0.00020915●●●●●●
78. 237729903 c.3251G>A p.R1084K missense 0.00014926●●●●●●
79. 237730008 c.3356G>A p.R1119H missense 0.00017389●●●●●●
80. 237730013 c.3361G>C p.G1121R missense 0.00001656●●●●●●
81. 237730032 c.3380A>G p.E1127G missense 0.00112611●●●●●●
82. 237754015 c.3883A>G p.S1295G missense 0.00006095●●●●●●
83. 237754201 c.4069G>C p.D1357H missense 0.00006633●●●●●●
84. 237758826 c.4465T>C p.C1489R missense 0.00016598●●●●●●
85. 237774070 c.4692G>A p.M1564I missense 0.00008584●●●●●●
86. 237780626 c.5756G>A p.R1919Q missense 0.00010878●●●●●●
87. 237787071 c.5923A>G p.M1975V missense 0.00007522●●●●●●
88. 237813283 c.7619A>G p.H2540R missense 0.00014076●●●●●●
89. 237819215 c.8060G>A p.S2687N missense 0.00002900●●●●●●
90. 237821259 c.8145G>T p.E2715D missense 0.00004472●●●●●●
91. 237821276 c.8162T>C p.I2721T missense 0.00057431●●●●●●
92. 237881795 c.10528C>A p.R3510S missense 0.00003342●●●●●●
93. 237881795 c.10528C>T p.R3510C missense 0.00001671●●●●●●
94. 237955513 c.13672C>T p.H4558Y missense 0.00020481●●●●●●
95. 237433797 c.49G>A p.D17N missense 0.00003108●●●●●●
96. 237433824 c.76G>A p.A26T missense 0.00009908●●●●●●
97. 237433867 c.119A>G p.E40G missense 0.00002080●●●●●●
98. 237494244 c.235C>A p.Q79K missense 0.00000828●●●●●●
99. 237550633 c.629C>T p.T210I missense 0.00000828●●●●●●
100. 237551395 c.685A>G p.I229V missense 0.00000841●●●●●●
101. 237580371 c.796G>A p.A266T missense 0.00001663●●●●●●
102. 237580390 c.815G>T p.R272L missense 0.00003328●●●●●●
103. 237586493 c.950T>C p.M317T missense 0.00003317●●●●●●
104. 237604637 c.1024G>A p.V342M missense 0.00000829●●●●●●
105. 237604757 c.1144G>A p.V382M missense 0.00009186●●●●●●
106. 237604778 c.1165C>T p.R389C missense 0.00003396●●●●●●
107. 237608702 c.1172C>G p.A391G missense 0.00000829●●●●●●
108. 237617744 c.1346T>G p.I449R missense 0.00000830●●●●●●
109. 237617752 c.1354G>A p.V452I missense 0.00005813●●●●●●
110. 237620023 c.1600T>C p.Y534H missense 0.00000830●●●●●●
111. 237656290 c.1864G>A p.G622R missense 0.00001463●●●●●●
112. 237659836 c.1987G>A p.V663I missense 0.00004142●●●●●●
113. 237659894 c.2045C>G p.T682R missense 0.00003312●●●●●●
114. 237659972 c.2123G>C p.G708A missense 0.00000828●●●●●●
115. 237664067 c.2260G>T p.V754F missense 0.00000829●●●●●●
116. 237666594 c.2402G>T p.R801L missense 0.00005509●●●●●●
117. 237666737 c.2545G>A p.D849N missense 0.00002485●●●●●●
118. 237666765 c.2573C>T p.T858M missense 0.00004142●●●●●●
119. 237670013 c.2617G>A p.V873M missense 0.00001915●●●●●●
120. 237670025 c.2629C>T p.H877Y missense 0.00010775●●●●●●
121. 237675030 c.2761T>A p.F921I missense 0.00003076●●●●●●
122. 237693732 c.2828T>C p.L943S missense 0.00022953●●●●●●
123. 237730050 c.3398G>A p.R1133H missense 0.00006625●●●●●●
124. 237732502 c.3481G>C p.V1161L missense 0.00002489●●●●●●
125. 237753171 c.3677A>G p.Y1226C missense 0.00000829●●●●●●
126. 237754018 c.3886A>G p.N1296D missense 0.00000865●●●●●●
127. 237754063 c.3931G>A p.A1311T missense 0.00001657●●●●●●
128. 237754087 c.3955G>A p.A1319T missense 0.00001656●●●●●●
129. 237754129 c.3997G>A p.D1333N missense 0.00000828●●●●●●
130. 237754226 c.4094C>T p.A1365V missense 0.00031542●●●●●●
131. 237754228 c.4096A>G p.T1366A missense 0.00004151●●●●●●
132. 237756821 c.4321G>A p.V1441I missense 0.00001658●●●●●●
133. 237758806 c.4445G>A p.R1482H missense 0.00019939●●●●●●
134. 237765407 c.4679T>C p.I1560T missense 0.00000934●●●●●●
135. 237774218 c.4840C>A p.R1614S missense 0.00000901●●●●●●
136. 237774229 c.4851G>T p.W1617C missense 0.00000903●●●●●●
137. 237777378 c.4950G>C p.L1650F missense 0.00000832●●●●●●
138. 237777838 c.5410C>T p.L1804F missense 0.00000829●●●●●●
139. 237778073 c.5645A>G p.E1882G missense 0.00001695●●●●●●
140. 237780632 c.5762G>A p.R1921Q missense 0.00003537●●●●●●
141. 237780671 c.5801C>T p.A1934V missense 0.00001668●●●●●●
142. 237780692 c.5822G>A p.R1941H missense 0.00002491●●●●●●
143. 237780694 c.5824T>C p.F1942L missense 0.00000830●●●●●●
144. 237787120 c.5972A>G p.E1991G missense 0.00001660●●●●●●
145. 237787148 c.6000T>G p.H2000Q missense 0.00000831●●●●●●
146. 237787161 c.6013A>G p.T2005A missense 0.00000835●●●●●●
147. 237791260 c.6320C>T p.T2107M missense 0.00004983●●●●●●
148. 237801675 c.6811G>T p.G2271C missense 0.00001656●●●●●●
149. 237802383 c.6997C>A p.P2333T missense 0.00000833●●●●●●
150. 237802464 c.7078G>A p.D2360N missense 0.00000840●●●●●●
151. 237802480 c.7094A>G p.N2365S missense 0.00001698●●●●●●
152. 237802485 c.7099G>A p.G2367R missense 0.00017098●●●●●●
153. 237804264 c.7183T>A p.L2395M missense 0.00000897●●●●●●
154. 237806720 c.7315G>A p.A2439T missense 0.00001656●●●●●●
155. 237811755 c.7354G>A p.V2452M missense 0.00002511●●●●●●
156. 237811783 c.7382G>T p.C2461F missense 0.00001120●●●●●●
157. 237811859 c.7458T>G p.H2486Q missense 0.00001069●●●●●●
158. 237813288 c.7624G>T p.A2542S missense 0.00002484●●●●●●
159. 237813372 c.7708G>A p.E2570K missense 0.00002484●●●●●●
160. 237817674 c.7925G>A p.R2642K missense 0.00008334●●●●●●
161. 237819151 c.7996C>G p.L2666V missense 0.00001371●●●●●●
162. 237819179 c.8024C>G p.A2675G missense 0.00001158●●●●●●
163. 237823304 c.8228A>G p.Y2743C missense 0.00002860●●●●●●
164. 237823345 c.8269A>G p.M2757V missense 0.00002814●●●●●●
165. 237824153 c.8342C>T p.T2781I missense 0.00004510●●●●●●
166. 237824245 c.8434C>G p.Q2812E missense 0.00004746●●●●●●
167. 237831220 c.8552T>C p.I2851T missense 0.00002979●●●●●●
168. 237837411 c.8606C>T p.P2869L missense 0.00000830●●●●●●
169. 237838132 c.8816A>G p.Y2939C missense 0.00000888●●●●●●
170. 237841403 c.8886C>A p.F2962L missense 0.00001248●●●●●●
171. 237862282 c.9085A>G p.I3029V missense 0.00003710●●●●●●
172. 237863590 c.9190G>A p.A3064T missense 0.00010122●●●●●●
173. 237868572 c.9509T>A p.F3170Y missense 0.00001310●●●●●●
174. 237868632 c.9569G>A p.R3190Q missense 0.00004084●●●●●●
175. 237870287 c.9619A>G p.N3207D missense 0.00003325●●●●●●
176. 237870323 c.9655G>A p.V3219M missense 0.00007462●●●●●●
177. 237870337 c.9669G>C p.E3223D missense 0.00004143●●●●●●
178. 237870359 c.9691A>G p.M3231V missense 0.00005798●●●●●●
179. 237870440 c.9772C>T p.P3258S missense 0.00002491●●●●●●
180. 237872268 c.10012G>A p.D3338N missense 0.00000862●●●●●●
181. 237872343 c.10087G>C p.A3363P missense 0.00001670●●●●●●
182. 237875080 c.10266G>C p.Q3422H missense 0.00003682●●●●●●
183. 237881796 c.10529G>A p.R3510H missense 0.00000836●●●●●●
184. 237895415 c.11005C>T p.L3669F missense 0.00000830●●●●●●
185. 237919648 c.11206G>A p.A3736T missense 0.00001663●●●●●●
186. 237947059 c.12047T>A p.F4016Y missense 0.00010211●●●●●●
187. 237947172 c.12160A>G p.S4054G missense 0.00000850●●●●●●
188. 237947261 c.12249C>A p.F4083L missense 0.00000854●●●●●●
189. 237947659 c.12647C>T p.A4216V missense 0.00000830●●●●●●
190. 237947838 c.12826G>A p.V4276M missense 0.00004202●●●●●●
191. 237948105 c.13093G>A p.D4365N missense 0.00002503●●●●●●
192. 237949275 c.13267A>C p.K4423Q missense 0.00002072●●●●●●
193. 237949292 c.13284A>C p.E4428D missense 0.00002115●●●●●●
194. 237949311 c.13303A>G p.T4435A missense 0.00002182●●●●●●
195. 237955559 c.13718G>A p.R4573H missense 0.00000834●●●●●●
196. 237957259 c.13875T>G p.D4625E missense 0.00000836●●●●●●
197. 237965199 c.14134G>T p.V4712F missense 0.00000839●●●●●●
198. 237777848 c.5420G>A p.R1807Q missense 0.00002488●●●●●●
199. 237580411 c.836C>T p.T279M missense 0.00000836●●●●●●
200. 237608737 c.1207A>C p.I403L missense 0.00001658●●●●●●
201. 237889592 c.10709G>A p.R3570Q missense 0.00002060●●●●●●
202. 237870341 c.9673G>A p.G3225S missense 0.00000829●●●●●●
203. 237889582 c.10699C>T p.R3567C missense 0.00004405●●●●●●
204. 237774071 c.4693C>G p.P1565A missense 0.00025438●●●●●●
205. 237711849 c.3025C>T p.R1009W missense 0.00005810●●●●●●
206. 237948232 c.13220G>A p.S4407N missense 0.00008269●●●●●●
207. 237617716 c.1318G>A p.A440T missense 0.00000832●●●●●●
208. 237619933 c.1510C>T p.R504C missense 0.00000832●●●●●●
209. 237780663 c.5793T>G p.D1931E missense 0.00006698●●●●●●
210. 237942017 c.11827G>A p.A3943T missense 0.00000829●●●●●●
211. 237494235 c.226C>T p.R76W missense 0.00000828●●●●●●
212. 237494280 c.271G>C p.G91R missense 0.00000829●●●●●●
213. 237532877 c.353C>T p.A118V missense 0.00007329●●●●●●
214. 237586422 c.879G>C p.Q293H missense 0.00000828●●●●●●
215. 237586435 c.892C>T p.R298C missense 0.00010767●●●●●●
216. 237608704 c.1174A>G p.I392V missense 0.00001658●●●●●●
217. 237608773 c.1243A>G p.T415A missense 0.00014921●●●●●●
218. 237608779 c.1249C>G p.R417G missense 0.00000829●●●●●●
219. 237619918 c.1495C>T p.L499F missense 0.00000834●●●●●●
220. 237619982 c.1559G>A p.R520Q missense 0.00000829●●●●●●
221. 237659858 c.2009A>G p.Y670C missense 0.00000828●●●●●●
222. 237659953 c.2104G>A p.G702R missense 0.00004140●●●●●●
223. 237664080 c.2273G>C p.C758S missense 0.00000828●●●●●●
224. 237666602 c.2410C>T p.L804F missense 0.00023095●●●●●●
225. 237670026 c.2630A>C p.H877P missense 0.00079605●●●●●●
226. 237670031 c.2635G>C p.E879Q missense 0.00000884●●●●●●
227. 237713953 c.3176G>A p.G1059E missense 0.00002965●●●●●●
228. 237729918 c.3266G>A p.R1089H missense 0.00000828●●●●●●
229. 237753190 c.3696A>T p.L1232F missense 0.00000829●●●●●●
230. 237754150 c.4018G>C p.D1340H missense 0.00000829●●●●●●
231. 237754201 c.4069G>A p.D1357N missense 0.00002487●●●●●●
232. 237754229 c.4097C>A p.T1366N missense 0.00002491●●●●●●
233. 237755146 c.4268C>T p.T1423M missense 0.00000990●●●●●●
234. 237756893 c.4393G>A p.V1465I missense 0.00001658●●●●●●
235. 237758805 c.4444C>T p.R1482C missense 0.00001662●●●●●●
236. 237774131 c.4753C>T p.R1585C missense 0.00001019●●●●●●
237. 237774218 c.4840C>T p.R1614C missense 0.00005407●●●●●●
238. 237777577 c.5149G>T p.A1717S missense 0.00001658●●●●●●
239. 237777722 c.5294C>G p.S1765C missense 0.00016565●●●●●●
240. 237777998 c.5570C>T p.P1857L missense 0.00004999●●●●●●
241. 237778021 c.5593G>A p.E1865K missense 0.00002503●●●●●●
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967. 237947103 c.12091A>G p.T4031A missense 0.00004370●●●●●●
968. 237947104 c.12092C>A p.T4031N missense 0.00002619●●●●●●
969. 237947118 c.12106G>A p.D4036N missense 0.00009481●●●●●●
970. 237947128 c.12116G>T p.G4039V missense 0.00000854●●●●●●
971. 237947154 c.12142T>G p.F4048V missense 0.00000849●●●●●●
972. 237947175 c.12163C>G p.H4055D missense 0.00000851●●●●●●
973. 237947179 c.12167A>G p.K4056R missense 0.00000852●●●●●●
974. 237947188 c.12176C>T p.T4059M missense 0.00000854●●●●●●
975. 237947221 c.12209C>T p.A4070V missense 0.00000860●●●●●●
976. 237947221 c.12209C>A p.A4070E missense 0.00000860●●●●●●
977. 237947223 c.12211G>A p.E4071K missense 0.00000857●●●●●●
978. 237947229 c.12217G>A p.D4073N missense 0.00000857●●●●●●
979. 237947230 c.12218A>G p.D4073G missense 0.00000856●●●●●●
980. 237947244 c.12232C>A p.L4078I missense 0.00002568●●●●●●
981. 237947248 c.12236A>G p.D4079G missense 0.00000855●●●●●●
982. 237947253 c.12241G>A p.E4081K missense 0.00002565●●●●●●
983. 237947256 c.12244G>A p.E4082K missense 0.00002562●●●●●●
984. 237947269 c.12257G>A p.R4086H missense 0.00000853●●●●●●
985. 237947295 c.12283G>A p.G4095S missense 0.00000847●●●●●●
986. 237947310 c.12298G>A p.V4100I missense 0.00000840●●●●●●
987. 237947381 c.12369G>C p.E4123D missense 0.00000831●●●●●●
988. 237947385 c.12373G>A p.V4125I missense 0.00001662●●●●●●
989. 237947415 c.12403C>T p.R4135C missense 0.00000829●●●●●●
990. 237947416 c.12404G>A p.R4135H missense 0.00004146●●●●●●
991. 237947428 c.12416T>C p.M4139T missense 0.00000829●●●●●●
992. 237947439 c.12427A>C p.K4143Q missense 0.00004143●●●●●●
993. 237947439 c.12427A>G p.K4143E missense 0.00000829●●●●●●
994. 237947550 c.12538G>C p.G4180R missense 0.00000828●●●●●●
995. 237947553 c.12541G>A p.G4181R missense 0.00009938●●●●●●
996. 237947592 c.12580G>A p.E4194K missense 0.00000828●●●●●●
997. 237947601 c.12589A>G p.I4197V missense 0.00000829●●●●●●
998. 237947670 c.12658G>A p.E4220K missense 0.00000831●●●●●●
999. 237947673 c.12661A>G p.S4221G missense 0.00000831●●●●●●
1000. 237947675 c.12663C>G p.S4221R missense 0.00001662●●●●●●
1001. 237947676 c.12664G>A p.E4222K missense 0.00000831●●●●●●
1002. 237947684 c.12672G>C p.E4224D missense 0.00000832●●●●●●
1003. 237947696 c.12684G>T p.E4228D missense 0.00001668●●●●●●
1004. 237947707 c.12695G>A p.R4232K missense 0.00000837●●●●●●
1005. 237947712 c.12700G>A p.A4234T missense 0.00000838●●●●●●
1006. 237947758 c.12746G>C p.R4249T missense 0.00000845●●●●●●
1007. 237947763 c.12751A>G p.N4251D missense 0.00000845●●●●●●
1008. 237947764 c.12752A>G p.N4251S missense 0.00002535●●●●●●
1009. 237947775 c.12763C>T p.L4255F missense 0.00000846●●●●●●
1010. 237947812 c.12800A>G p.Q4267R missense 0.00004228●●●●●●
1011. 237947823 c.12811G>A p.V4271I missense 0.00000845●●●●●●
1012. 237947829 c.12817A>G p.K4273E missense 0.00000843●●●●●●
1013. 237947847 c.12835A>G p.M4279V missense 0.00000837●●●●●●
1014. 237947849 c.12837G>A p.M4279I missense 0.00002511●●●●●●
1015. 237947853 c.12841A>T p.T4281S missense 0.00000836●●●●●●
1016. 237947863 c.12851T>C p.F4284S missense 0.00000834●●●●●●
1017. 237947866 c.12854C>T p.S4285L missense 0.00000834●●●●●●
1018. 237947880 c.12868A>T p.I4290F missense 0.00000832●●●●●●
1019. 237947913 c.12901G>C p.V4301L missense 0.00000829●●●●●●
1020. 237947929 c.12917T>C p.F4306S missense 0.00002487●●●●●●
1021. 237947932 c.12920G>A p.R4307H missense 0.00001658●●●●●●
1022. 237947974 c.12962G>T p.G4321V missense 0.00000831●●●●●●
1023. 237947991 c.12979G>C p.V4327L missense 0.00000834●●●●●●
1024. 237947995 c.12983C>T p.A4328V missense 0.00000836●●●●●●
1025. 237948020 c.13008C>A p.D4336E missense 0.00000842●●●●●●
1026. 237948034 c.13022A>C p.E4341A missense 0.00000845●●●●●●
1027. 237948047 c.13035T>A p.D4345E missense 0.00000846●●●●●●
1028. 237948081 c.13069G>A p.A4357T missense 0.00022763●●●●●●
1029. 237948099 c.13087C>G p.L4363V missense 0.00000836●●●●●●
1030. 237948100 c.13088T>C p.L4363P missense 0.00000836●●●●●●
1031. 237948181 c.13169A>G p.Q4390R missense 0.00000962●●●●●●
1032. 237948187 c.13175A>G p.K4392R missense 0.00000994●●●●●●
1033. 237948203 c.13191T>A p.N4397K missense 0.00001110●●●●●●
1034. 237948207 c.13195A>G p.N4399D missense 0.00002279●●●●●●
1035. 237948210 c.13198G>T p.A4400S missense 0.00001172●●●●●●
1036. 237948229 c.13217T>A p.M4406K missense 0.00001338●●●●●●
1037. 237948241 c.13229T>C p.V4410A missense 0.00001502●●●●●●
1038. 237949270 c.13262A>C p.E4421A missense 0.00002061●●●●●●
1039. 237949302 c.13294A>C p.K4432Q missense 0.00002124●●●●●●
1040. 237949309 c.13301A>C p.E4434A missense 0.00002162●●●●●●
1041. 237949323 c.13315C>A p.P4439T missense 0.00002273●●●●●●
1042. 237951299 c.13340G>A p.G4447E missense 0.00002179●●●●●●
1043. 237951310 c.13351G>A p.E4451K missense 0.00003937●●●●●●
1044. 237951329 c.13370A>G p.K4457R missense 0.00001537●●●●●●
1045. 237951330 c.13371G>T p.K4457N missense 0.00001520●●●●●●
1046. 237951338 c.13379A>G p.Q4460R missense 0.00002766●●●●●●
1047. 237951358 c.13399A>G p.T4467A missense 0.00001146●●●●●●
1048. 237951365 c.13406G>C p.R4469T missense 0.00001089●●●●●●
1049. 237951368 c.13409A>G p.Y4470C missense 0.00001068●●●●●●
1050. 237951412 c.13453A>G p.I4485V missense 0.00000948●●●●●●
1051. 237951416 c.13457C>G p.A4486G missense 0.00000947●●●●●●
1052. 237955411 c.13570A>G p.T4524A missense 0.00002457●●●●●●
1053. 237955412 c.13571C>T p.T4524I missense 0.00002422●●●●●●
1054. 237955442 c.13601C>T p.P4534L missense 0.00001574●●●●●●
1055. 237955445 c.13604C>T p.T4535M missense 0.00001501●●●●●●
1056. 237955456 c.13615A>C p.S4539R missense 0.00001255●●●●●●
1057. 237955468 c.13627A>G p.K4543E missense 0.00010017●●●●●●
1058. 237955478 c.13637G>A p.S4546N missense 0.00001027●●●●●●
1059. 237955496 c.13655A>G p.H4552R missense 0.00000900●●●●●●
1060. 237955531 c.13690A>G p.S4564G missense 0.00000839●●●●●●
1061. 237955558 c.13717C>A p.R4573S missense 0.00000834●●●●●●
1062. 237957249 c.13865C>T p.S4622L missense 0.00000837●●●●●●
1063. 237957284 c.13900G>A p.V4634I missense 0.00000836●●●●●●
1064. 237957289 c.13905C>G p.I4635M missense 0.00000837●●●●●●
1065. 237957291 c.13907A>G p.N4636S missense 0.00000836●●●●●●
1066. 237961356 c.13976A>G p.E4659G missense 0.00001072●●●●●●
1067. 237961377 c.13997T>C p.I4666T missense 0.00001023●●●●●●
1068. 237961388 c.14008C>G p.L4670V missense 0.00001011●●●●●●
1069. 237961406 c.14026G>T p.A4676S missense 0.00000990●●●●●●
1070. 237961428 c.14048G>A p.R4683K missense 0.00001928●●●●●●
1071. 237961429 c.14049A>T p.R4683S missense 0.00001925●●●●●●
1072. 237965163 c.14098T>G p.S4700A missense 0.00001675●●●●●●
1073. 237965166 c.14101A>G p.I4701V missense 0.00026795●●●●●●
1074. 237969438 c.14153C>A p.S4718Y missense 0.00000832●●●●●●
1075. 237969452 c.14167G>A p.A4723T missense 0.00001661●●●●●●
1076. 237969457 c.14172G>C p.W4724C missense 0.00000830●●●●●●
1077. 237969533 c.14248T>C p.F4750L missense 0.00000828●●●●●●
1078. 237969558 c.14273C>T p.S4758F missense 0.00000829●●●●●●
1079. 237972204 c.14302G>A p.V4768I missense 0.00001656●●●●●●
1080. 237972246 c.14344A>G p.T4782A missense 0.00001656●●●●●●
1081. 237972306 c.14404C>T p.P4802S missense 0.00000828●●●●●●
1082. 237972324 c.14422G>A p.D4808N missense 0.00000828●●●●●●
1083. 237982395 c.14493C>G p.I4831M missense 0.00000829●●●●●●
1084. 237982415 c.14513A>G p.E4838G missense 0.00000828●●●●●●
1085. 237982465 c.14563A>G p.I4855V missense 0.00000828●●●●●●
1086. 237993852 c.14678T>C p.I4893T missense 0.00000828●●●●●●
1087. 237993862 c.14688T>A p.D4896E missense 0.00000828●●●●●●
1088. 237993882 c.14708A>G p.H4903R missense 0.00001657●●●●●●
1089. 237995912 c.14869T>A p.C4957S missense 0.00000847●●●●●●
1090. 237995918 c.14875C>T p.R4959W missense 0.00002551●●●●●●
1091. 237995926 c.14883G>T p.Q4961H missense 0.00000856●●●●●●
1092. 237995927 c.14884T>A p.Y4962N missense 0.00001713●●●●●●

* 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.