RYR2 protein-altering variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 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. 237540715 c.556G>A p.V186M missense 0.00004184●●●●●●
2. 237551429 c.719A>G p.H240R missense 0.00000840●●●●●●
3. 237608770 c.1240C>T p.R414C missense 0.00000829●●●●●●
4. 237608788 c.1258C>T p.R420W missense 0.00001658●●●●●●
5. 237659822 c.1973A>G p.N658S missense 0.00004144●●●●●●
6. 237713929 c.3152G>A p.R1051H missense 0.00008803●●●●●●
7. 237777474 c.5046A>C p.E1682D missense 0.00002486●●●●●●
8. 237777937 c.5509G>A p.E1837K missense 0.00003324●●●●●●
9. 237778111 c.5683C>A p.Q1895K missense 0.00000892●●●●●●
10. 237801664 c.6800G>A p.R2267H missense 0.00003313●●●●●●
11. 237802462 c.7076G>A p.R2359Q missense 0.00005874●●●●●●
12. 237804256 c.7175A>G p.Y2392C missense 0.00000889●●●●●●
13. 237811912 c.7511C>T p.T2504M missense 0.00008563●●●●●●
14. 237813192 c.7528A>G p.T2510A missense 0.00002488●●●●●●
15. 237881790 c.10523T>C p.I3508T missense 0.00003340●●●●●●
16. 237889591 c.10708C>T p.R3570W missense 0.00006211●●●●●●
17. 237890472 c.10811G>T p.R3604L missense 0.00000834●●●●●●
18. 237947904 c.12892G>A p.V4298M missense 0.00000830●●●●●●
19. 237954780 c.13528G>A p.A4510T missense 0.00005747●●●●●●
20. 237955507 c.13666G>A p.A4556T missense 0.00002601●●●●●●
21. 237972271 c.14369G>A p.R4790Q missense 0.00000828●●●●●●
22. 237608737 c.1207A>G p.I403V missense 0.00000829●●●●●●
23. 237732617 c.3596A>G p.D1199G missense 0.00000932●●●●●●
24. 237791224 c.6284T>C p.I2095T missense 0.00002495●●●●●●
25. 237811752 c.7351G>A p.V2451M missense 0.00001280●●●●●●
26. 237659930 c.2081G>A p.R694Q missense 0.00000828●●●●●●
27. 237664164 c.2357G>A p.G786D missense 0.00000828●●●●●●
28. 237664201 c.2394A>G p.I798M missense 0.00001658●●●●●●
29. 237670055 c.2659G>A p.E887K missense 0.00000849●●●●●●
30. 237732452 c.3431G>A p.R1144Q missense 0.00001670●●●●●●
31. 237806708 c.7303G>T p.V2435F missense 0.00001656●●●●●●
32. 237895385 c.10975A>C p.K3659Q missense 0.00000830●●●●●●
33. 237947343 c.12331A>C p.N4111H missense 0.00002501●●●●●●
34. 237947871 c.12859T>C p.Y4287H missense 0.00000833●●●●●●
35. 237947956 c.12944G>A p.G4315E missense 0.00002487●●●●●●
36. 237804246 c.7165A>C p.M2389L missense 0.00000889●●●●●●
37. 237947857 c.12845C>T p.A4282V missense 0.00001670●●●●●●
38. 237811860 c.7459C>A p.L2487I missense 0.00005355●●●●●●
39. 237608747 c.1217C>T p.S406L missense 0.00001658●●●●●●
40. 237777856 c.5428G>C p.V1810L missense 0.00008297●●●●●●
41. 237947854 c.12842C>T p.T4281M missense 0.00009195●●●●●●
42. 237955441 c.13600C>T p.P4534S missense 0.00007994●●●●●●
43. 237955553 c.13712C>T p.T4571M missense 0.00000834●●●●●●
44. 237961337 c.13957G>A p.V4653I missense 0.00007794●●●●●●
45. 237433884 c.136C>A p.L46I missense 0.00002188●●●●●●
46. 237586525 c.982G>A p.A328T missense 0.00001674●●●●●●
47. 237604779 c.1166G>A p.R389H missense 0.00002556●●●●●●
48. 237664196 c.2389G>A p.G797R missense 0.00005801●●●●●●
49. 237730013 c.3361G>C p.G1121R missense 0.00001656●●●●●●
50. 237754015 c.3883A>G p.S1295G missense 0.00006095●●●●●●
51. 237754201 c.4069G>C p.D1357H missense 0.00006633●●●●●●
52. 237774070 c.4692G>A p.M1564I missense 0.00008584●●●●●●
53. 237787071 c.5923A>G p.M1975V missense 0.00007522●●●●●●
54. 237819215 c.8060G>A p.S2687N missense 0.00002900●●●●●●
55. 237821259 c.8145G>T p.E2715D missense 0.00004472●●●●●●
56. 237881795 c.10528C>A p.R3510S missense 0.00003342●●●●●●
57. 237881795 c.10528C>T p.R3510C missense 0.00001671●●●●●●
58. 237433797 c.49G>A p.D17N missense 0.00003108●●●●●●
59. 237433824 c.76G>A p.A26T missense 0.00009908●●●●●●
60. 237433867 c.119A>G p.E40G missense 0.00002080●●●●●●
61. 237494244 c.235C>A p.Q79K missense 0.00000828●●●●●●
62. 237550633 c.629C>T p.T210I missense 0.00000828●●●●●●
63. 237551395 c.685A>G p.I229V missense 0.00000841●●●●●●
64. 237580371 c.796G>A p.A266T missense 0.00001663●●●●●●
65. 237580390 c.815G>T p.R272L missense 0.00003328●●●●●●
66. 237586493 c.950T>C p.M317T missense 0.00003317●●●●●●
67. 237604637 c.1024G>A p.V342M missense 0.00000829●●●●●●
68. 237604757 c.1144G>A p.V382M missense 0.00009186●●●●●●
69. 237604778 c.1165C>T p.R389C missense 0.00003396●●●●●●
70. 237608702 c.1172C>G p.A391G missense 0.00000829●●●●●●
71. 237617744 c.1346T>G p.I449R missense 0.00000830●●●●●●
72. 237617752 c.1354G>A p.V452I missense 0.00005813●●●●●●
73. 237620023 c.1600T>C p.Y534H missense 0.00000830●●●●●●
74. 237656290 c.1864G>A p.G622R missense 0.00001463●●●●●●
75. 237659836 c.1987G>A p.V663I missense 0.00004142●●●●●●
76. 237659894 c.2045C>G p.T682R missense 0.00003312●●●●●●
77. 237659972 c.2123G>C p.G708A missense 0.00000828●●●●●●
78. 237664067 c.2260G>T p.V754F missense 0.00000829●●●●●●
79. 237666594 c.2402G>T p.R801L missense 0.00005509●●●●●●
80. 237666737 c.2545G>A p.D849N missense 0.00002485●●●●●●
81. 237666765 c.2573C>T p.T858M missense 0.00004142●●●●●●
82. 237670013 c.2617G>A p.V873M missense 0.00001915●●●●●●
83. 237675030 c.2761T>A p.F921I missense 0.00003076●●●●●●
84. 237730050 c.3398G>A p.R1133H missense 0.00006625●●●●●●
85. 237732502 c.3481G>C p.V1161L missense 0.00002489●●●●●●
86. 237753171 c.3677A>G p.Y1226C missense 0.00000829●●●●●●
87. 237754018 c.3886A>G p.N1296D missense 0.00000865●●●●●●
88. 237754063 c.3931G>A p.A1311T missense 0.00001657●●●●●●
89. 237754087 c.3955G>A p.A1319T missense 0.00001656●●●●●●
90. 237754129 c.3997G>A p.D1333N missense 0.00000828●●●●●●
91. 237754228 c.4096A>G p.T1366A missense 0.00004151●●●●●●
92. 237756821 c.4321G>A p.V1441I missense 0.00001658●●●●●●
93. 237765407 c.4679T>C p.I1560T missense 0.00000934●●●●●●
94. 237774218 c.4840C>A p.R1614S missense 0.00000901●●●●●●
95. 237774229 c.4851G>T p.W1617C missense 0.00000903●●●●●●
96. 237777378 c.4950G>C p.L1650F missense 0.00000832●●●●●●
97. 237777838 c.5410C>T p.L1804F missense 0.00000829●●●●●●
98. 237778073 c.5645A>G p.E1882G missense 0.00001695●●●●●●
99. 237780632 c.5762G>A p.R1921Q missense 0.00003537●●●●●●
100. 237780671 c.5801C>T p.A1934V missense 0.00001668●●●●●●
101. 237780692 c.5822G>A p.R1941H missense 0.00002491●●●●●●
102. 237780694 c.5824T>C p.F1942L missense 0.00000830●●●●●●
103. 237787120 c.5972A>G p.E1991G missense 0.00001660●●●●●●
104. 237787148 c.6000T>G p.H2000Q missense 0.00000831●●●●●●
105. 237787161 c.6013A>G p.T2005A missense 0.00000835●●●●●●
106. 237791260 c.6320C>T p.T2107M missense 0.00004983●●●●●●
107. 237801675 c.6811G>T p.G2271C missense 0.00001656●●●●●●
108. 237802383 c.6997C>A p.P2333T missense 0.00000833●●●●●●
109. 237802464 c.7078G>A p.D2360N missense 0.00000840●●●●●●
110. 237802480 c.7094A>G p.N2365S missense 0.00001698●●●●●●
111. 237804264 c.7183T>A p.L2395M missense 0.00000897●●●●●●
112. 237806720 c.7315G>A p.A2439T missense 0.00001656●●●●●●
113. 237811755 c.7354G>A p.V2452M missense 0.00002511●●●●●●
114. 237811783 c.7382G>T p.C2461F missense 0.00001120●●●●●●
115. 237811859 c.7458T>G p.H2486Q missense 0.00001069●●●●●●
116. 237813288 c.7624G>T p.A2542S missense 0.00002484●●●●●●
117. 237813372 c.7708G>A p.E2570K missense 0.00002484●●●●●●
118. 237817674 c.7925G>A p.R2642K missense 0.00008334●●●●●●
119. 237819151 c.7996C>G p.L2666V missense 0.00001371●●●●●●
120. 237819179 c.8024C>G p.A2675G missense 0.00001158●●●●●●
121. 237823304 c.8228A>G p.Y2743C missense 0.00002860●●●●●●
122. 237823345 c.8269A>G p.M2757V missense 0.00002814●●●●●●
123. 237824153 c.8342C>T p.T2781I missense 0.00004510●●●●●●
124. 237824245 c.8434C>G p.Q2812E missense 0.00004746●●●●●●
125. 237831220 c.8552T>C p.I2851T missense 0.00002979●●●●●●
126. 237837411 c.8606C>T p.P2869L missense 0.00000830●●●●●●
127. 237838132 c.8816A>G p.Y2939C missense 0.00000888●●●●●●
128. 237841403 c.8886C>A p.F2962L missense 0.00001248●●●●●●
129. 237862282 c.9085A>G p.I3029V missense 0.00003710●●●●●●
130. 237868572 c.9509T>A p.F3170Y missense 0.00001310●●●●●●
131. 237868632 c.9569G>A p.R3190Q missense 0.00004084●●●●●●
132. 237870287 c.9619A>G p.N3207D missense 0.00003325●●●●●●
133. 237870323 c.9655G>A p.V3219M missense 0.00007462●●●●●●
134. 237870337 c.9669G>C p.E3223D missense 0.00004143●●●●●●
135. 237870359 c.9691A>G p.M3231V missense 0.00005798●●●●●●
136. 237870440 c.9772C>T p.P3258S missense 0.00002491●●●●●●
137. 237872268 c.10012G>A p.D3338N missense 0.00000862●●●●●●
138. 237872343 c.10087G>C p.A3363P missense 0.00001670●●●●●●
139. 237875080 c.10266G>C p.Q3422H missense 0.00003682●●●●●●
140. 237881796 c.10529G>A p.R3510H missense 0.00000836●●●●●●
141. 237895415 c.11005C>T p.L3669F missense 0.00000830●●●●●●
142. 237919648 c.11206G>A p.A3736T missense 0.00001663●●●●●●
143. 237947172 c.12160A>G p.S4054G missense 0.00000850●●●●●●
144. 237947261 c.12249C>A p.F4083L missense 0.00000854●●●●●●
145. 237947659 c.12647C>T p.A4216V missense 0.00000830●●●●●●
146. 237947838 c.12826G>A p.V4276M missense 0.00004202●●●●●●
147. 237948105 c.13093G>A p.D4365N missense 0.00002503●●●●●●
148. 237949275 c.13267A>C p.K4423Q missense 0.00002072●●●●●●
149. 237949292 c.13284A>C p.E4428D missense 0.00002115●●●●●●
150. 237949311 c.13303A>G p.T4435A missense 0.00002182●●●●●●
151. 237955559 c.13718G>A p.R4573H missense 0.00000834●●●●●●
152. 237957259 c.13875T>G p.D4625E missense 0.00000836●●●●●●
153. 237965199 c.14134G>T p.V4712F missense 0.00000839●●●●●●
154. 237777848 c.5420G>A p.R1807Q missense 0.00002488●●●●●●
155. 237580411 c.836C>T p.T279M missense 0.00000836●●●●●●
156. 237608737 c.1207A>C p.I403L missense 0.00001658●●●●●●
157. 237889592 c.10709G>A p.R3570Q missense 0.00002060●●●●●●
158. 237870341 c.9673G>A p.G3225S missense 0.00000829●●●●●●
159. 237889582 c.10699C>T p.R3567C missense 0.00004405●●●●●●
160. 237711849 c.3025C>T p.R1009W missense 0.00005810●●●●●●
161. 237948232 c.13220G>A p.S4407N missense 0.00008269●●●●●●
162. 237617716 c.1318G>A p.A440T missense 0.00000832●●●●●●
163. 237619933 c.1510C>T p.R504C missense 0.00000832●●●●●●
164. 237780663 c.5793T>G p.D1931E missense 0.00006698●●●●●●
165. 237942017 c.11827G>A p.A3943T missense 0.00000829●●●●●●
166. 237494235 c.226C>T p.R76W missense 0.00000828●●●●●●
167. 237494280 c.271G>C p.G91R missense 0.00000829●●●●●●
168. 237532877 c.353C>T p.A118V missense 0.00007329●●●●●●
169. 237586422 c.879G>C p.Q293H missense 0.00000828●●●●●●
170. 237608704 c.1174A>G p.I392V missense 0.00001658●●●●●●
171. 237608779 c.1249C>G p.R417G missense 0.00000829●●●●●●
172. 237619918 c.1495C>T p.L499F missense 0.00000834●●●●●●
173. 237619982 c.1559G>A p.R520Q missense 0.00000829●●●●●●
174. 237659858 c.2009A>G p.Y670C missense 0.00000828●●●●●●
175. 237659953 c.2104G>A p.G702R missense 0.00004140●●●●●●
176. 237664080 c.2273G>C p.C758S missense 0.00000828●●●●●●
177. 237670031 c.2635G>C p.E879Q missense 0.00000884●●●●●●
178. 237713953 c.3176G>A p.G1059E missense 0.00002965●●●●●●
179. 237729918 c.3266G>A p.R1089H missense 0.00000828●●●●●●
180. 237753190 c.3696A>T p.L1232F missense 0.00000829●●●●●●
181. 237754150 c.4018G>C p.D1340H missense 0.00000829●●●●●●
182. 237754201 c.4069G>A p.D1357N missense 0.00002487●●●●●●
183. 237754229 c.4097C>A p.T1366N missense 0.00002491●●●●●●
184. 237755146 c.4268C>T p.T1423M missense 0.00000990●●●●●●
185. 237756893 c.4393G>A p.V1465I missense 0.00001658●●●●●●
186. 237758805 c.4444C>T p.R1482C missense 0.00001662●●●●●●
187. 237774131 c.4753C>T p.R1585C missense 0.00001019●●●●●●
188. 237774218 c.4840C>T p.R1614C missense 0.00005407●●●●●●
189. 237777577 c.5149G>T p.A1717S missense 0.00001658●●●●●●
190. 237777998 c.5570C>T p.P1857L missense 0.00004999●●●●●●
191. 237778021 c.5593G>A p.E1865K missense 0.00002503●●●●●●
192. 237778028 c.5600A>T p.E1867V missense 0.00000835●●●●●●
193. 237787126 c.5978G>A p.R1993H missense 0.00001659●●●●●●
194. 237791139 c.6199G>A p.V2067I missense 0.00001126●●●●●●
195. 237791272 c.6332T>C p.V2111A missense 0.00000831●●●●●●
196. 237801663 c.6799C>T p.R2267C missense 0.00001657●●●●●●
197. 237806639 c.7234G>A p.G2412R missense 0.00004141●●●●●●
198. 237813361 c.7697G>T p.R2566L missense 0.00000828●●●●●●
199. 237813363 c.7699G>T p.D2567Y missense 0.00000828●●●●●●
200. 237823324 c.8248T>A p.S2750T missense 0.00003709●●●●●●
201. 237824189 c.8378G>A p.R2793Q missense 0.00004512●●●●●●
202. 237831250 c.8582A>G p.E2861G missense 0.00003313●●●●●●
203. 237841393 c.8876A>C p.E2959A missense 0.00004721●●●●●●
204. 237863581 c.9181C>G p.L3061V missense 0.00002723●●●●●●
205. 237870335 c.9667G>A p.E3223K missense 0.00005801●●●●●●
206. 237870542 c.9874G>A p.E3292K missense 0.00002965●●●●●●
207. 237872295 c.10039G>A p.D3347N missense 0.00000847●●●●●●
208. 237872829 c.10192A>T p.M3398L missense 0.00001019●●●●●●
209. 237880572 c.10398T>G p.I3466M missense 0.00000849●●●●●●
210. 237886430 c.10557G>T p.L3519F missense 0.00001665●●●●●●
211. 237886513 c.10640C>T p.T3547M missense 0.00003313●●●●●●
212. 237890440 c.10779G>C p.K3593N missense 0.00001660●●●●●●
213. 237895372 c.10962A>C p.E3654D missense 0.00001662●●●●●●
214. 237895444 c.11034G>T p.E3678D missense 0.00000832●●●●●●
215. 237905607 c.11103T>A p.D3701E missense 0.00003736●●●●●●
216. 237919660 c.11218G>T p.V3740L missense 0.00000833●●●●●●
217. 237923148 c.11398T>A p.C3800S missense 0.00005800●●●●●●
218. 237947779 c.12767T>C p.M4256T missense 0.00005078●●●●●●
219. 237947800 c.12788G>A p.S4263N missense 0.00000847●●●●●●
220. 237948225 c.13213C>T p.L4405F missense 0.00001301●●●●●●
221. 237961365 c.13985G>T p.G4662V missense 0.00001051●●●●●●
222. 237965183 c.14118G>C p.Q4706H missense 0.00000837●●●●●●
223. 237993842 c.14668A>G p.I4890V missense 0.00000828●●●●●●
224. 237791164 c.6224T>C p.I2075T missense 0.00000939●●●●●●
225. 237433834 c.86A>G p.H29R missense 0.00002252●●●●●●
226. 237433860 c.112G>T p.A38S missense 0.00002094●●●●●●
227. 237433891 c.143T>C p.F48S missense 0.00004480●●●●●●
228. 237494205 c.196A>G p.T66A missense 0.00000828●●●●●●
229. 237494211 c.202G>C p.V68L missense 0.00000828●●●●●●
230. 237494212 c.203T>G p.V68G missense 0.00000828●●●●●●
231. 237494226 c.217C>G p.L73V missense 0.00000828●●●●●●
232. 237494263 c.254C>T p.T85I missense 0.00000828●●●●●●
233. 237527664 c.301A>T p.M101L missense 0.00002135●●●●●●
234. 237532864 c.340C>G p.L114V missense 0.00003701●●●●●●
235. 237538033 c.401C>G p.S134C missense 0.00001019●●●●●●
236. 237538041 c.409C>T p.R137W missense 0.00001988●●●●●●
237. 237538044 c.412T>G p.S138A missense 0.00001972●●●●●●
238. 237538090 c.458C>T p.T153I missense 0.00002166●●●●●●
239. 237538093 c.461C>G p.T154R missense 0.00001097●●●●●●
240. 237540628 c.469G>T p.A157S missense 0.00001693●●●●●●
241. 237540649 c.490C>A p.P164T missense 0.00001673●●●●●●
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731. 237829818 c.8443G>A p.V2815M missense 0.00002103●●●●●●
732. 237829825 c.8450C>T p.A2817V missense 0.00005021●●●●●●
733. 237829830 c.8455C>T p.H2819Y missense 0.00001968●●●●●●
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743. 237838057 c.8741C>T p.T2914M missense 0.00003483●●●●●●
744. 237838075 c.8759G>A p.R2920Q missense 0.00000852●●●●●●
745. 237838107 c.8791C>T p.R2931C missense 0.00001711●●●●●●
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750. 237841372 c.8855A>G p.E2952G missense 0.00001071●●●●●●
751. 237841391 c.8874A>T p.Q2958H missense 0.00002335●●●●●●
752. 237841392 c.8875G>C p.E2959Q missense 0.00001176●●●●●●
753. 237841396 c.8879T>C p.I2960T missense 0.00001206●●●●●●
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755. 237843793 c.8933A>T p.H2978L missense 0.00005018●●●●●●
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760. 237843824 c.8964A>T p.R2988S missense 0.00002302●●●●●●
761. 237843828 c.8968C>T p.L2990F missense 0.00002347●●●●●●
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765. 237863530 c.9130A>T p.T3044S missense 0.00003971●●●●●●
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767. 237863614 c.9214A>G p.M3072V missense 0.00002131●●●●●●
768. 237863626 c.9226A>C p.K3076Q missense 0.00001995●●●●●●
769. 237863651 c.9251G>A p.R3084Q missense 0.00001603●●●●●●
770. 237863659 c.9259C>T p.P3087S missense 0.00001509●●●●●●
771. 237863665 c.9265G>C p.G3089R missense 0.00001445●●●●●●
772. 237863680 c.9280A>G p.I3094V missense 0.00001310●●●●●●
773. 237863684 c.9284A>G p.N3095S missense 0.00001276●●●●●●
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775. 237863736 c.9336T>G p.I3112M missense 0.00001064●●●●●●
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783. 237868571 c.9508T>A p.F3170I missense 0.00001307●●●●●●
784. 237868581 c.9518C>T p.T3173I missense 0.00001325●●●●●●
785. 237868585 c.9522T>A p.H3174Q missense 0.00002658●●●●●●
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793. 237870309 c.9641T>A p.L3214H missense 0.00001659●●●●●●
794. 237870314 c.9646G>A p.E3216K missense 0.00001659●●●●●●
795. 237870347 c.9679C>T p.R3227C missense 0.00000828●●●●●●
796. 237870348 c.9680G>A p.R3227H missense 0.00000828●●●●●●
797. 237870361 c.9693G>A p.M3231I missense 0.00000828●●●●●●
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801. 237870418 c.9750G>T p.W3250C missense 0.00000829●●●●●●
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803. 237870446 c.9778C>T p.R3260W missense 0.00004153●●●●●●
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805. 237870450 c.9782C>T p.A3261V missense 0.00000832●●●●●●
806. 237870452 c.9784G>A p.E3262K missense 0.00000832●●●●●●
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810. 237870536 c.9868A>T p.I3290F missense 0.00001386●●●●●●
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814. 237872218 c.9962C>T p.P3321L missense 0.00000945●●●●●●
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818. 237872263 c.10007A>C p.E3336A missense 0.00000866●●●●●●
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825. 237872308 c.10052C>T p.A3351V missense 0.00001684●●●●●●
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827. 237872334 c.10078A>G p.T3360A missense 0.00001671●●●●●●
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829. 237872818 c.10181A>C p.E3394A missense 0.00001006●●●●●●
830. 237872826 c.10189C>T p.R3397C missense 0.00003044●●●●●●
831. 237872827 c.10190G>T p.R3397L missense 0.00004056●●●●●●
832. 237872841 c.10204G>A p.V3402M missense 0.00001055●●●●●●
833. 237872847 c.10210A>G p.I3404V missense 0.00001085●●●●●●
834. 237872857 c.10220C>T p.S3407L missense 0.00002271●●●●●●
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836. 237875116 c.10302T>A p.D3434E missense 0.00001199●●●●●●
837. 237880504 c.10330G>C p.V3444L missense 0.00000913●●●●●●
838. 237880534 c.10360C>T p.R3454C missense 0.00000869●●●●●●
839. 237880547 c.10373G>A p.R3458Q missense 0.00000860●●●●●●
840. 237880579 c.10405G>T p.A3469S missense 0.00000847●●●●●●
841. 237880613 c.10439T>C p.I3480T missense 0.00001691●●●●●●
842. 237880618 c.10444G>A p.A3482T missense 0.00001693●●●●●●
843. 237880618 c.10444G>T p.A3482S missense 0.00000846●●●●●●
844. 237880645 c.10471C>G p.L3491V missense 0.00000865●●●●●●
845. 237880658 c.10484G>T p.R3495L missense 0.00000892●●●●●●
846. 237881772 c.10505A>C p.E3502A missense 0.00001669●●●●●●
847. 237881784 c.10517G>A p.R3506Q missense 0.00004174●●●●●●
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852. 237886504 c.10631C>T p.P3544L missense 0.00000828●●●●●●
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855. 237889583 c.10700G>T p.R3567L missense 0.00002179●●●●●●
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885. 237924272 c.11420C>T p.A3807V missense 0.00003329●●●●●●
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942. 237947775 c.12763C>T p.L4255F missense 0.00000846●●●●●●
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950. 237947866 c.12854C>T p.S4285L missense 0.00000834●●●●●●
951. 237947880 c.12868A>T p.I4290F missense 0.00000832●●●●●●
952. 237947913 c.12901G>C p.V4301L missense 0.00000829●●●●●●
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955. 237947974 c.12962G>T p.G4321V missense 0.00000831●●●●●●
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964. 237948187 c.13175A>G p.K4392R missense 0.00000994●●●●●●
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967. 237948210 c.13198G>T p.A4400S missense 0.00001172●●●●●●
968. 237948229 c.13217T>A p.M4406K missense 0.00001338●●●●●●
969. 237948241 c.13229T>C p.V4410A missense 0.00001502●●●●●●
970. 237949270 c.13262A>C p.E4421A missense 0.00002061●●●●●●
971. 237949302 c.13294A>C p.K4432Q missense 0.00002124●●●●●●
972. 237949309 c.13301A>C p.E4434A missense 0.00002162●●●●●●
973. 237949323 c.13315C>A p.P4439T missense 0.00002273●●●●●●
974. 237951299 c.13340G>A p.G4447E missense 0.00002179●●●●●●
975. 237951310 c.13351G>A p.E4451K missense 0.00003937●●●●●●
976. 237951329 c.13370A>G p.K4457R missense 0.00001537●●●●●●
977. 237951330 c.13371G>T p.K4457N missense 0.00001520●●●●●●
978. 237951338 c.13379A>G p.Q4460R missense 0.00002766●●●●●●
979. 237951358 c.13399A>G p.T4467A missense 0.00001146●●●●●●
980. 237951365 c.13406G>C p.R4469T missense 0.00001089●●●●●●
981. 237951368 c.13409A>G p.Y4470C missense 0.00001068●●●●●●
982. 237951412 c.13453A>G p.I4485V missense 0.00000948●●●●●●
983. 237951416 c.13457C>G p.A4486G missense 0.00000947●●●●●●
984. 237955411 c.13570A>G p.T4524A missense 0.00002457●●●●●●
985. 237955412 c.13571C>T p.T4524I missense 0.00002422●●●●●●
986. 237955442 c.13601C>T p.P4534L missense 0.00001574●●●●●●
987. 237955445 c.13604C>T p.T4535M missense 0.00001501●●●●●●
988. 237955456 c.13615A>C p.S4539R missense 0.00001255●●●●●●
989. 237955478 c.13637G>A p.S4546N missense 0.00001027●●●●●●
990. 237955496 c.13655A>G p.H4552R missense 0.00000900●●●●●●
991. 237955531 c.13690A>G p.S4564G missense 0.00000839●●●●●●
992. 237955558 c.13717C>A p.R4573S missense 0.00000834●●●●●●
993. 237957249 c.13865C>T p.S4622L missense 0.00000837●●●●●●
994. 237957284 c.13900G>A p.V4634I missense 0.00000836●●●●●●
995. 237957289 c.13905C>G p.I4635M missense 0.00000837●●●●●●
996. 237957291 c.13907A>G p.N4636S missense 0.00000836●●●●●●
997. 237961356 c.13976A>G p.E4659G missense 0.00001072●●●●●●
998. 237961377 c.13997T>C p.I4666T missense 0.00001023●●●●●●
999. 237961388 c.14008C>G p.L4670V missense 0.00001011●●●●●●
1000. 237961406 c.14026G>T p.A4676S missense 0.00000990●●●●●●
1001. 237961428 c.14048G>A p.R4683K missense 0.00001928●●●●●●
1002. 237961429 c.14049A>T p.R4683S missense 0.00001925●●●●●●
1003. 237965163 c.14098T>G p.S4700A missense 0.00001675●●●●●●
1004. 237969438 c.14153C>A p.S4718Y missense 0.00000832●●●●●●
1005. 237969452 c.14167G>A p.A4723T missense 0.00001661●●●●●●
1006. 237969457 c.14172G>C p.W4724C missense 0.00000830●●●●●●
1007. 237969533 c.14248T>C p.F4750L missense 0.00000828●●●●●●
1008. 237969558 c.14273C>T p.S4758F missense 0.00000829●●●●●●
1009. 237972204 c.14302G>A p.V4768I missense 0.00001656●●●●●●
1010. 237972246 c.14344A>G p.T4782A missense 0.00001656●●●●●●
1011. 237972306 c.14404C>T p.P4802S missense 0.00000828●●●●●●
1012. 237972324 c.14422G>A p.D4808N missense 0.00000828●●●●●●
1013. 237982395 c.14493C>G p.I4831M missense 0.00000829●●●●●●
1014. 237982415 c.14513A>G p.E4838G missense 0.00000828●●●●●●
1015. 237982465 c.14563A>G p.I4855V missense 0.00000828●●●●●●
1016. 237993852 c.14678T>C p.I4893T missense 0.00000828●●●●●●
1017. 237993862 c.14688T>A p.D4896E missense 0.00000828●●●●●●
1018. 237993882 c.14708A>G p.H4903R missense 0.00001657●●●●●●
1019. 237995912 c.14869T>A p.C4957S missense 0.00000847●●●●●●
1020. 237995918 c.14875C>T p.R4959W missense 0.00002551●●●●●●
1021. 237995926 c.14883G>T p.Q4961H missense 0.00000856●●●●●●
1022. 237995927 c.14884T>A p.Y4962N missense 0.00001713●●●●●●
1023. 237729908 c.3256C>T p.R1086X nonsense 0.00000829●●●●●●
1024. 237947781 c.12769C>T p.R4257X nonsense 0.00001695●●●●●●
1025. 237778027 c.5599G>T p.Glu1867Ter nonsense 0.00000835●●●●●●
1026. 237802461 c.7075C>T p.Arg2359Ter nonsense 0.00000839●●●●●●
1027. 237947873 c.12861C>A p.Tyr4287Ter nonsense 0.00000833●●●●●●
1028. 237540664 c.505C>T p.R169X nonsense 0.00000834●●●●●●
1029. 237540668 c.509C>G p.S170X nonsense 0.00000833●●●●●●
1030. 237586394 c.851G>A p.W284X nonsense 0.00001660●●●●●●
1031. 237632450 c.1671G>A p.W557X nonsense 0.00000830●●●●●●
1032. 237666611 c.2419C>T p.R807X nonsense 0.00001292●●●●●●
1033. 237711864 c.3040C>T p.Q1014X nonsense 0.00000831●●●●●●
1034. 237774165 c.4787G>A p.W1596X nonsense 0.00000933●●●●●●
1035. 237838074 c.8758C>T p.R2920X nonsense 0.00000853●●●●●●
1036. 237875133 c.10319C>G p.S3440X nonsense 0.00001255●●●●●●
1037. 237881783 c.10516C>T p.R3506X nonsense 0.00000835●●●●●●
1038. 237947740 c.12728C>A p.S4243X nonsense 0.00000843●●●●●●
1039. 237955468 c.13627A>T p.K4543X nonsense 0.00001113●●●●●●
1040. 237632489 c.1708+2T>C essential splice site 0.00000839●●●●●●
1041. 237870571 c.9901+2T>G essential splice site 0.00002193●●●●●●
1042. 237580424 c.848+1G>A essential splice site 0.00001688●●●●●●
1043. 237586550 c.1005+2T>C essential splice site 0.00000873●●●●●●
1044. 237831260 c.8590+2T>C essential splice site 0.00003723●●●●●●
1045. 237837394 c.8591-2_8591delAGG essential splice site 0.00001668●●●●●●
1046. 237838147 c.8830+1G>A essential splice site 0.00000938●●●●●●
1047. 237946973 c.11963-2A>G essential splice site 0.00001216●●●●●●
1048. 237954728 c.13477-1G>C essential splice site 0.00003161●●●●●●
1049. 237965217 c.14151+1G>A essential splice site 0.00000849●●●●●●
1050. 237993931 c.14756+1G>A essential splice site 0.00000833●●●●●●
1051. 237889602 c.10719_10720delCT p.Y3573*fs*1 frameshift 0.00002007●●●●●●
1052. 237617789 c.1391_1392insC p.Asp467ArgfsTer2 frameshift 0.00000831●●●●●●
1053. 237755056 c.4178delC p.Thr1393LysfsTer28 frameshift 0.00004822●●●●●●
1054. 237774123 c.4745_4746insC p.Arg1585AlafsTer29 frameshift 0.00003192●●●●●●
1055. 237777663 c.5235_5236delAC p.His1746ArgfsTer26 frameshift 0.00000829●●●●●●
1056. 237875051 c.10237_10238delAA p.Glu3415ArgfsTer9 frameshift 0.00001561●●●●●●
1057. 237895388 c.10978delA p.Arg3660GlufsTer8 frameshift 0.00000830●●●●●●
1058. 237955482 c.13641delG p.Asp4548ThrfsTer14 frameshift 0.00000989●●●●●●
1059. 237969494 c.14209dupT p.Ala4740CysfsTer56 frameshift 0.00009655●●●●●●
1060. 237994814 c.14757_14758insT p.Leu4922SerfsTer9 frameshift 0.00000896●●●●●●
1061. 237995945 c.14902_14903insAA frameshift 0.00000880●●●●●●
1062. 237947677 c.12665_12667delAGA p.Lys4223del inframe 0.00009141●●●●●●
1063. 237586483 c.940_942delCTT p.Leu316del inframe 0.00000829●●●●●●
1064. 237729924 c.3272_3274delAGA p.Lys1092del inframe 0.00000828●●●●●●
1065. 237949282 c.13274_13276delAAG p.Glu4428del inframe 0.00002091●●●●●●
1066. 237955412 c.13571_13573delCTT p.Ser4526del inframe 0.00002457●●●●●●

* 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.