RYR2 variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 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. 237205840 c.19G>A p.G7S missense 0.00014273●●●●●●
2. 237205869 c.48T>C splice site 0.00011979●●●●●●
3. 237433789 c.49-8C>T splice site 0.00003312●●●●●●
4. 237433797 c.49G>A p.D17N missense 0.00003108●●●●●●
5. 237433799 c.51T>C p.D17D splice site 0.00006117●●●●●●
6. 237433824 c.76G>A p.A26T missense 0.00009908●●●●●●
7. 237433834 c.86A>G p.H29R missense 0.00002252●●●●●●
8. 237433860 c.112G>T p.A38S missense 0.00002094●●●●●●
9. 237433867 c.119A>G p.E40G missense 0.00002080●●●●●●
10. 237433884 c.136C>A p.L46I missense 0.00002188●●●●●●
11. 237433891 c.143T>C p.F48S missense 0.00004480●●●●●●
12. 237494205 c.196A>G p.T66A missense 0.00000828●●●●●●
13. 237494211 c.202G>C p.V68L missense 0.00000828●●●●●●
14. 237494212 c.203T>G p.V68G missense 0.00000828●●●●●●
15. 237494226 c.217C>G p.L73V missense 0.00000828●●●●●●
16. 237494235 c.226C>T p.R76W missense 0.00000828●●●●●●
17. 237494244 c.235C>A p.Q79K missense 0.00000828●●●●●●
18. 237494263 c.254C>T p.T85I missense 0.00000828●●●●●●
19. 237494280 c.271G>C p.G91R missense 0.00000829●●●●●●
20. 237494282 c.273G>C splice site 0.00003315●●●●●●
21. 237494290 c.273+8C>T splice site 0.00001659●●●●●●
22. 237519260 c.274-5C>G splice site 0.00001505●●●●●●
23. 237519262 c.274-3C>T splice site 0.00010322●●●●●●
24. 237519267 c.276A>G splice site 0.00001415●●●●●●
25. 237527650 c.295-8C>T splice site 0.00002114●●●●●●
26. 237527664 c.301A>T p.M101L missense 0.00002135●●●●●●
27. 237527672 c.309G>A splice site 0.00002182●●●●●●
28. 237527679 c.309+7C>T splice site 0.00076401●●●●●●
29. 237527680 c.309+8_309+12delATCTT splice site 0.00006741●●●●●●
30. 237532864 c.340C>G p.L114V missense 0.00003701●●●●●●
31. 237532877 c.353C>T p.A118V missense 0.00007329●●●●●●
32. 237538008 c.385-9A>C splice site 0.00029118●●●●●●
33. 237538033 c.401C>G p.S134C missense 0.00001019●●●●●●
34. 237538041 c.409C>T p.R137W missense 0.00001988●●●●●●
35. 237538044 c.412T>G p.S138A missense 0.00001972●●●●●●
36. 237538090 c.458C>T p.T153I missense 0.00002166●●●●●●
37. 237538093 c.461C>G p.T154R missense 0.00001097●●●●●●
38. 237538100 c.463+5_463+6insC splice site 0.00019229●●●●●●
39. 237538102 c.463+7A>G splice site 0.00026135●●●●●●
40. 237538104 c.463+9C>T splice site 0.00003450●●●●●●
41. 237540615 c.464-8A>C splice site 0.30214740●●●●●●
42. 237540628 c.469G>T p.A157S missense 0.00001693●●●●●●
43. 237540649 c.490C>A p.P164T missense 0.00001673●●●●●●
44. 237540664 c.505C>T p.R169X nonsense 0.00000834●●●●●●
45. 237540668 c.509C>G p.S170X nonsense 0.00000833●●●●●●
46. 237540713 c.554G>C p.S185T missense 0.00000836●●●●●●
47. 237540715 c.556G>A p.V186M missense 0.00004184●●●●●●
48. 237540742 c.576+7G>C splice site 0.00199804●●●●●●
49. 237550574 c.577-7G>A splice site 0.00000828●●●●●●
50. 237550600 c.596G>T p.G199V missense 0.00001656●●●●●●
51. 237550627 c.623A>G p.Q208R missense 0.00000828●●●●●●
52. 237550629 c.625C>G p.Q209E missense 0.00000828●●●●●●
53. 237550633 c.629C>T p.T210I missense 0.00000828●●●●●●
54. 237550653 c.649A>G p.I217V missense 0.00014078●●●●●●
55. 237550686 c.676+6A>G splice site 0.00000829●●●●●●
56. 237551376 c.677-11T>A splice site 0.57513908●●●●●●
57. 237551380 c.677-7C>G splice site 0.00000847●●●●●●
58. 237551395 c.685A>G p.I229V missense 0.00000841●●●●●●
59. 237551429 c.719A>G p.H240R missense 0.00000840●●●●●●
60. 237551431 c.721A>G p.M241V missense 0.00000841●●●●●●
61. 237551438 c.728A>G p.E243G missense 0.00000842●●●●●●
62. 237551447 c.737C>T p.T246I missense 0.00000846●●●●●●
63. 237551452 c.742C>T p.P248S missense 0.00000850●●●●●●
64. 237551479 c.769C>T p.R257W missense 0.00001784●●●●●●
65. 237580350 c.775A>G p.T259A missense 0.00000836●●●●●●
66. 237580351 c.776C>A p.T259N missense 0.00000836●●●●●●
67. 237580363 c.788A>C p.E263A missense 0.00000832●●●●●●
68. 237580371 c.796G>A p.A266T missense 0.00001663●●●●●●
69. 237580371 c.796G>T p.A266S missense 0.00000832●●●●●●
70. 237580375 c.800T>G p.V267G missense 0.00000832●●●●●●
71. 237580383 c.808C>T p.H270Y missense 0.00000832●●●●●●
72. 237580389 c.814C>T p.R272C missense 0.00000832●●●●●●
73. 237580390 c.815G>T p.R272L missense 0.00003328●●●●●●
74. 237580411 c.836C>T p.T279M missense 0.00000836●●●●●●
75. 237580424 c.848+1G>A essential splice site 0.00001688●●●●●●
76. 237580431 c.848+8G>C splice site 0.00007639●●●●●●
77. 237586384 c.849-8T>C splice site 0.14033323●●●●●●
78. 237586394 c.851G>A p.W284X nonsense 0.00001660●●●●●●
79. 237586408 c.865A>G p.I289V missense 0.00000829●●●●●●
80. 237586422 c.879G>C p.Q293H missense 0.00000828●●●●●●
81. 237586427 c.884T>C p.F295S missense 0.00000828●●●●●●
82. 237586435 c.892C>T p.R298C missense 0.00010767●●●●●●
83. 237586436 c.893G>A p.R298H missense 0.00000828●●●●●●
84. 237586440 c.897T>A p.H299Q missense 0.00000828●●●●●●
85. 237586469 c.926T>C p.M309T missense 0.00014909●●●●●●
86. 237586483 c.940_942delCTT p.Leu316del inframe 0.00000829●●●●●●
87. 237586492 c.949A>G p.M317V missense 0.00000829●●●●●●
88. 237586493 c.950T>C p.M317T missense 0.00003317●●●●●●
89. 237586495 c.952G>A p.D318N missense 0.00000829●●●●●●
90. 237586525 c.982G>A p.A328T missense 0.00001674●●●●●●
91. 237586541 c.998C>T p.S333F missense 0.00011109●●●●●●
92. 237586550 c.1005+2T>C essential splice site 0.00000873●●●●●●
93. 237586555 c.1005+7C>T splice site 0.00000883●●●●●●
94. 237586555 c.1005+7C>G splice site 0.00000883●●●●●●
95. 237604635 c.1022G>C p.G341A missense 0.00034805●●●●●●
96. 237604637 c.1024G>A p.V342M missense 0.00000829●●●●●●
97. 237604656 c.1043G>A p.G348D missense 0.00002485●●●●●●
98. 237604683 c.1070G>A p.G357D missense 0.00000829●●●●●●
99. 237604691 c.1078G>A p.V360I missense 0.00000829●●●●●●
100. 237604705 c.1092A>C p.Q364H missense 0.00000829●●●●●●
101. 237604728 c.1115T>A p.L372H missense 0.00000830●●●●●●
102. 237604746 c.1133A>C p.D378A missense 0.00000832●●●●●●
103. 237604748 c.1135G>A p.V379M missense 0.00025829●●●●●●
104. 237604748 c.1135G>T p.V379L missense 0.00000833●●●●●●
105. 237604757 c.1144G>A p.V382M missense 0.00009186●●●●●●
106. 237604767 c.1154G>C p.G385A missense 0.00000839●●●●●●
107. 237604772 c.1159A>C p.I387L missense 0.00000843●●●●●●
108. 237604775 c.1162C>A p.Q388K missense 0.00000846●●●●●●
109. 237604776 c.1163A>G p.Q388R missense 0.00000848●●●●●●
110. 237604778 c.1165C>T p.R389C missense 0.00003396●●●●●●
111. 237604779 c.1166G>A p.R389H missense 0.00002556●●●●●●
112. 237604789 c.1170+6G>T splice site 0.00000862●●●●●●
113. 237608702 c.1172C>G p.A391G missense 0.00000829●●●●●●
114. 237608704 c.1174A>G p.I392V missense 0.00001658●●●●●●
115. 237608713 c.1183C>T p.H395Y missense 0.00000829●●●●●●
116. 237608737 c.1207A>G p.I403V missense 0.00000829●●●●●●
117. 237608737 c.1207A>C p.I403L missense 0.00001658●●●●●●
118. 237608747 c.1217C>T p.S406L missense 0.00001658●●●●●●
119. 237608767 c.1237T>C p.S413P missense 0.00000829●●●●●●
120. 237608770 c.1240C>T p.R414C missense 0.00000829●●●●●●
121. 237608773 c.1243A>G p.T415A missense 0.00014921●●●●●●
122. 237608779 c.1249C>G p.R417G missense 0.00000829●●●●●●
123. 237608780 c.1250G>A p.R417Q missense 0.00002487●●●●●●
124. 237608788 c.1258C>T p.R420W missense 0.00001658●●●●●●
125. 237608802 c.1272C>G p.F424L missense 0.00002488●●●●●●
126. 237608814 c.1284A>T p.R428S missense 0.00001660●●●●●●
127. 237608820 c.1290A>T splice site 0.00000830●●●●●●
128. 237617681 c.1293-10T>C splice site 0.00000863●●●●●●
129. 237617702 c.1304C>T p.A435V missense 0.00004181●●●●●●
130. 237617716 c.1318G>A p.A440T missense 0.00000832●●●●●●
131. 237617717 c.1319C>T p.A440V missense 0.00001665●●●●●●
132. 237617717 c.1319C>A p.A440E missense 0.00000832●●●●●●
133. 237617722 c.1324G>T p.A442S missense 0.00002495●●●●●●
134. 237617734 c.1336G>A p.D446N missense 0.00000831●●●●●●
135. 237617743 c.1345A>G p.I449V missense 0.00000831●●●●●●
136. 237617744 c.1346T>G p.I449R missense 0.00000830●●●●●●
137. 237617752 c.1354G>A p.V452I missense 0.00005813●●●●●●
138. 237617756 c.1358G>C p.S453T missense 0.00006642●●●●●●
139. 237617768 c.1370A>G p.Q457R missense 0.00000830●●●●●●
140. 237617777 c.1379T>C p.I460T missense 0.00000830●●●●●●
141. 237617779 c.1381G>T p.G461C missense 0.00000831●●●●●●
142. 237617789 c.1391_1392insC p.Asp467ArgfsTer2 frameshift 0.00000831●●●●●●
143. 237617790 c.1392C>A p.H464Q missense 0.00004988●●●●●●
144. 237617794 c.1396C>G p.P466A missense 0.00011639●●●●●●
145. 237617797 c.1399G>A p.D467N missense 0.00001663●●●●●●
146. 237617805 c.1407T>G p.H469Q missense 0.00000832●●●●●●
147. 237617821 c.1423A>C p.K475Q missense 0.00000834●●●●●●
148. 237617822 c.1424A>G p.K475R missense 0.00000835●●●●●●
149. 237617852 c.1454G>A p.R485Q missense 0.00008645●●●●●●
150. 237617878 c.1476+4C>T splice site 0.00017227●●●●●●
151. 237617879 c.1476+5G>A splice site 0.00001927●●●●●●
152. 237619893 c.1477-7G>T splice site 0.00001680●●●●●●
153. 237619893 c.1477-7G>A splice site 0.00005039●●●●●●
154. 237619915 c.1492G>A p.V498M missense 0.00002504●●●●●●
155. 237619918 c.1495C>T p.L499F missense 0.00000834●●●●●●
156. 237619922 c.1499A>C p.E500A missense 0.00000833●●●●●●
157. 237619931 c.1508A>G p.D503G missense 0.00000832●●●●●●
158. 237619932 c.1509C>A p.D503E missense 0.00000832●●●●●●
159. 237619933 c.1510C>T p.R504C missense 0.00000832●●●●●●
160. 237619934 c.1511G>A p.R504H missense 0.00012476●●●●●●
161. 237619942 c.1519G>A p.V507I missense 0.00419575●●●●●●
162. 237619957 c.1534G>C p.A512P missense 0.00000830●●●●●●
163. 237619982 c.1559G>A p.R520Q missense 0.00000829●●●●●●
164. 237619984 c.1561G>A p.E521K missense 0.00009123●●●●●●
165. 237619995 c.1572G>C p.E524D missense 0.00000829●●●●●●
166. 237620003 c.1580A>G p.K527R missense 0.00000829●●●●●●
167. 237620009 c.1586T>C p.I529T missense 0.00000829●●●●●●
168. 237620023 c.1600T>C p.Y534H missense 0.00000830●●●●●●
169. 237620034 c.1611G>A p.L537L splice site 0.01702357●●●●●●
170. 237620042 c.1612+7A>C splice site 0.00001661●●●●●●
171. 237632393 c.1614G>A splice site 0.00000833●●●●●●
172. 237632395 c.1616C>T p.A539V missense 0.00000832●●●●●●
173. 237632419 c.1640A>C p.N547T missense 0.00000830●●●●●●
174. 237632450 c.1671G>A p.W557X nonsense 0.00000830●●●●●●
175. 237632454 c.1675A>G p.I559V missense 0.00004151●●●●●●
176. 237632457 c.1678A>T p.S560C missense 0.00000830●●●●●●
177. 237632457 c.1678A>G p.S560G missense 0.00000830●●●●●●
178. 237632472 c.1693C>G p.L565V missense 0.00000832●●●●●●
179. 237632478 c.1699G>C p.A567P missense 0.00001667●●●●●●
180. 237632486 c.1707A>G splice site 0.00002509●●●●●●
181. 237632489 c.1708+2T>C essential splice site 0.00000839●●●●●●
182. 237655186 c.1789A>G p.I597V missense 0.00012414●●●●●●
183. 237655219 c.1822C>T p.H608Y missense 0.00017285●●●●●●
184. 237656263 c.1837G>A p.V613I missense 0.00002601●●●●●●
185. 237656270 c.1844G>A p.C615Y missense 0.00002271●●●●●●
186. 237656276 c.1850T>C p.L617P missense 0.00001987●●●●●●
187. 237656290 c.1864G>A p.G622R missense 0.00001463●●●●●●
188. 237656302 c.1876C>T p.R626C missense 0.00002437●●●●●●
189. 237656327 c.1901A>G p.D634G missense 0.00000958●●●●●●
190. 237656353 c.1927T>A p.L643I missense 0.00000885●●●●●●
191. 237656363 c.1937C>T p.T646I missense 0.00000878●●●●●●
192. 237656365 c.1939C>T p.R647C missense 0.00016657●●●●●●
193. 237656366 c.1940G>A p.R647H missense 0.00001752●●●●●●
194. 237656377 c.1951C>T p.H651Y missense 0.00001745●●●●●●
195. 237656392 c.1961+5A>G splice site 0.00000871●●●●●●
196. 237656394 c.1961+7T>G splice site 0.00000871●●●●●●
197. 237659806 c.1962-5_1962-4insA splice site 0.00000830●●●●●●
198. 237659822 c.1973A>G p.N658S missense 0.00004144●●●●●●
199. 237659825 c.1976T>G p.I659S missense 0.00001657●●●●●●
200. 237659836 c.1987G>A p.V663I missense 0.00004142●●●●●●
201. 237659858 c.2009A>G p.Y670C missense 0.00000828●●●●●●
202. 237659873 c.2024A>G p.Y675C missense 0.00001656●●●●●●
203. 237659878 c.2029T>A p.L677M missense 0.00000828●●●●●●
204. 237659888 c.2039A>G p.D680G missense 0.00001656●●●●●●
205. 237659894 c.2045C>G p.T682R missense 0.00003312●●●●●●
206. 237659897 c.2048A>C p.E683A missense 0.00001656●●●●●●
207. 237659930 c.2081G>A p.R694Q missense 0.00000828●●●●●●
208. 237659950 c.2101G>C p.E701Q missense 0.00000828●●●●●●
209. 237659953 c.2104G>A p.G702R missense 0.00004140●●●●●●
210. 237659972 c.2123G>C p.G708A missense 0.00000828●●●●●●
211. 237659974 c.2125G>T p.G709W missense 0.00000828●●●●●●
212. 237660012 c.2163T>A p.D721E missense 0.00000828●●●●●●
213. 237660023 c.2174A>G p.Y725C missense 0.00001659●●●●●●
214. 237660037 c.2188C>T p.L730F missense 0.00002495●●●●●●
215. 237660054 c.2203+2_2203+3insAC splice site 0.00001686●●●●●●
216. 237660056 c.2203+4C>T splice site 0.00001689●●●●●●
217. 237660057 c.2203+5G>A splice site 0.00002537●●●●●●
218. 237664004 c.2204-7C>G splice site 0.01028426●●●●●●
219. 237664020 c.2213C>G p.A738G missense 0.00000850●●●●●●
220. 237664025 c.2218A>G p.T740A missense 0.00000842●●●●●●
221. 237664028 c.2221G>T p.V741L missense 0.00000839●●●●●●
222. 237664029 c.2222T>C p.V741A missense 0.00000838●●●●●●
223. 237664033 c.2226C>G p.S742R missense 0.00001672●●●●●●
224. 237664049 c.2242C>A p.L748M missense 0.00000830●●●●●●
225. 237664067 c.2260G>T p.V754F missense 0.00000829●●●●●●
226. 237664074 c.2267G>A p.S756N missense 0.00019884●●●●●●
227. 237664080 c.2273G>C p.C758S missense 0.00000828●●●●●●
228. 237664082 c.2275T>A p.L759I missense 0.00004142●●●●●●
229. 237664101 c.2294G>A p.S765N missense 0.00001656●●●●●●
230. 237664107 c.2300C>T p.S767L missense 0.00000828●●●●●●
231. 237664109 c.2302T>G p.F768V missense 0.00000828●●●●●●
232. 237664113 c.2306G>A p.R769Q missense 0.00000828●●●●●●
233. 237664127 c.2320C>A p.P774T missense 0.00000828●●●●●●
234. 237664130 c.2323G>A p.V775I missense 0.00000828●●●●●●
235. 237664141 c.2334G>C p.M778I missense 0.00000828●●●●●●
236. 237664155 c.2348A>G p.N783S missense 0.00002484●●●●●●
237. 237664160 c.2353G>A p.D785N missense 0.00000828●●●●●●
238. 237664164 c.2357G>A p.G786D missense 0.00000828●●●●●●
239. 237664171 c.2364C>A p.F788L missense 0.00002484●●●●●●
240. 237664181 c.2374G>A p.V792I missense 0.00000828●●●●●●
241. 237664196 c.2389G>A p.G797R missense 0.00005801●●●●●●
242. 237664201 c.2394A>G p.I798M missense 0.00001658●●●●●●
243. 237666583 c.2397-6C>T splice site 0.00934472●●●●●●
244. 237666594 c.2402G>T p.R801L missense 0.00005509●●●●●●
245. 237666602 c.2410C>T p.L804F missense 0.00023095●●●●●●
246. 237666609 c.2417G>A p.G806E missense 0.00001338●●●●●●
247. 237666611 c.2419C>T p.R807X nonsense 0.00001292●●●●●●
248. 237666612 c.2420G>A p.R807Q missense 0.00002475●●●●●●
249. 237666615 c.2423A>G p.H808R missense 0.00001141●●●●●●
250. 237666627 c.2435A>G p.K812R missense 0.00000987●●●●●●
251. 237666629 c.2437T>G p.F813V missense 0.00000970●●●●●●
252. 237666635 c.2443C>T p.P815S missense 0.00001842●●●●●●
253. 237666641 c.2449C>G p.P817A missense 0.00004403●●●●●●
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987. 237872291 c.10035G>C p.R3345S missense 0.00000849●●●●●●
988. 237872295 c.10039G>A p.D3347N missense 0.00000847●●●●●●
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990. 237872308 c.10052C>T p.A3351V missense 0.00001684●●●●●●
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992. 237872334 c.10078A>G p.T3360A missense 0.00001671●●●●●●
993. 237872343 c.10087G>C p.A3363P missense 0.00001670●●●●●●
994. 237872389 c.10133A>C p.D3378A missense 0.00000853●●●●●●
995. 237872397 c.10141A>C splice site 0.00002588●●●●●●
996. 237872404 c.10142+6A>T splice site 0.00001742●●●●●●
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998. 237872826 c.10189C>T p.R3397C missense 0.00003044●●●●●●
999. 237872827 c.10190G>T p.R3397L missense 0.00004056●●●●●●
1000. 237872829 c.10192A>T p.M3398L missense 0.00001019●●●●●●
1001. 237872841 c.10204G>A p.V3402M missense 0.00001055●●●●●●
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1003. 237872857 c.10220C>T p.S3407L missense 0.00002271●●●●●●
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1005. 237875040 c.10231-5C>T splice site 0.00095120●●●●●●
1006. 237875041 c.10231-4T>C splice site 0.00114491●●●●●●
1007. 237875051 c.10237_10238delAA p.Glu3415ArgfsTer9 frameshift 0.00001561●●●●●●
1008. 237875072 c.10258G>A p.V3420I missense 0.00005127●●●●●●
1009. 237875080 c.10266G>C p.Q3422H missense 0.00003682●●●●●●
1010. 237875116 c.10302T>A p.D3434E missense 0.00001199●●●●●●
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1020. 237880579 c.10405G>T p.A3469S missense 0.00000847●●●●●●
1021. 237880613 c.10439T>C p.I3480T missense 0.00001691●●●●●●
1022. 237880618 c.10444G>A p.A3482T missense 0.00001693●●●●●●
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1025. 237880658 c.10484G>T p.R3495L missense 0.00000892●●●●●●
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1027. 237880674 c.10494+6_10494+7delTC splice site 0.00000922●●●●●●
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1030. 237881783 c.10516C>T p.R3506X nonsense 0.00000835●●●●●●
1031. 237881784 c.10517G>A p.R3506Q missense 0.00004174●●●●●●
1032. 237881789 c.10522A>G p.I3508V missense 0.00000835●●●●●●
1033. 237881790 c.10523T>C p.I3508T missense 0.00003340●●●●●●
1034. 237881795 c.10528C>A p.R3510S missense 0.00003342●●●●●●
1035. 237881795 c.10528C>T p.R3510C missense 0.00001671●●●●●●
1036. 237881796 c.10529G>A p.R3510H missense 0.00000836●●●●●●
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1040. 237886443 c.10570A>G p.I3524V missense 0.00001660●●●●●●
1041. 237886488 c.10615G>A p.D3539N missense 0.00001656●●●●●●
1042. 237886504 c.10631C>G p.P3544R missense 0.00001656●●●●●●
1043. 237886504 c.10631C>T p.P3544L missense 0.00000828●●●●●●
1044. 237886513 c.10640C>T p.T3547M missense 0.00003313●●●●●●
1045. 237886513 c.10640C>G p.T3547R missense 0.00000828●●●●●●
1046. 237886553 c.10680T>A p.H3560Q missense 0.00004150●●●●●●
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1048. 237889582 c.10699C>T p.R3567C missense 0.00004405●●●●●●
1049. 237889583 c.10700G>A p.R3567H missense 0.00015256●●●●●●
1050. 237889583 c.10700G>T p.R3567L missense 0.00002179●●●●●●
1051. 237889591 c.10708C>T p.R3570W missense 0.00006211●●●●●●
1052. 237889592 c.10709G>A p.R3570Q missense 0.00002060●●●●●●
1053. 237889602 c.10719_10720delCT p.Y3573*fs*1 frameshift 0.00002007●●●●●●
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1055. 237890408 c.10747A>C p.K3583Q missense 0.00000831●●●●●●
1056. 237890440 c.10779G>C p.K3593N missense 0.00001660●●●●●●
1057. 237890451 c.10790G>A p.R3597K missense 0.00001661●●●●●●
1058. 237890472 c.10811G>T p.R3604L missense 0.00000834●●●●●●
1059. 237890477 c.10816G>A p.A3606T missense 0.00001671●●●●●●
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1062. 237893609 c.10888G>A p.E3630K missense 0.00000836●●●●●●
1063. 237893612 c.10891A>G p.T3631A missense 0.00000836●●●●●●
1064. 237893618 c.10897G>A p.E3633K missense 0.00001673●●●●●●
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1070. 237895382 c.10972A>C p.T3658P missense 0.00000830●●●●●●
1071. 237895383 c.10973C>G p.T3658S missense 0.00000830●●●●●●
1072. 237895385 c.10975A>C p.K3659Q missense 0.00000830●●●●●●
1073. 237895385 c.10975A>G p.K3659E missense 0.00003321●●●●●●
1074. 237895388 c.10978delA p.Arg3660GlufsTer8 frameshift 0.00000830●●●●●●
1075. 237895415 c.11005C>T p.L3669F missense 0.00000830●●●●●●
1076. 237895428 c.11018G>A p.R3673Q missense 0.00002493●●●●●●
1077. 237895444 c.11034G>T p.E3678D missense 0.00000832●●●●●●
1078. 237895446 c.11036A>G p.K3679R missense 0.00000832●●●●●●
1079. 237895453 c.11039+4delT splice site 0.00000833●●●●●●
1080. 237895455 c.11039+6G>A splice site 0.00000833●●●●●●
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1082. 237897012 c.11047G>A p.E3683K missense 0.00000859●●●●●●
1083. 237897033 c.11068G>C p.A3690P missense 0.00000858●●●●●●
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1085. 237905586 c.11092-10A>T splice site 0.00013909●●●●●●
1086. 237905607 c.11103T>A p.D3701E missense 0.00003736●●●●●●
1087. 237905624 c.11120G>C p.G3707A missense 0.00006795●●●●●●
1088. 237919600 c.11158G>C p.E3720Q missense 0.00001665●●●●●●
1089. 237919624 c.11182C>G p.Q3728E missense 0.00000831●●●●●●
1090. 237919639 c.11197G>A p.D3733N missense 0.00000831●●●●●●
1091. 237919648 c.11206G>A p.A3736T missense 0.00001663●●●●●●
1092. 237919660 c.11218G>T p.V3740L missense 0.00000833●●●●●●
1093. 237919694 c.11245+7T>G splice site 0.00001699●●●●●●
1094. 237920994 c.11246-3T>C splice site 0.00000830●●●●●●
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1096. 237921003 c.11252C>G p.T3751S missense 0.00001659●●●●●●
1097. 237921021 c.11270C>A p.A3757D missense 0.00001658●●●●●●
1098. 237921026 c.11275C>A p.L3759M missense 0.00000829●●●●●●
1099. 237921044 c.11293A>G p.I3765V missense 0.00000829●●●●●●
1100. 237921081 c.11325+5C>T splice site 0.00000830●●●●●●
1101. 237921083 c.11325+7G>A splice site 0.00000830●●●●●●
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1105. 237923098 c.11348A>T p.E3783V missense 0.00000828●●●●●●
1106. 237923112 c.11362G>A p.G3788S missense 0.00000828●●●●●●
1107. 237923143 c.11393A>C p.Q3798P missense 0.00000829●●●●●●
1108. 237923148 c.11398T>A p.C3800S missense 0.00005800●●●●●●
1109. 237923158 c.11402+6G>A splice site 0.00000829●●●●●●
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1111. 237924272 c.11420C>T p.A3807V missense 0.00003329●●●●●●
1112. 237924275 c.11423T>A p.F3808Y missense 0.00006560●●●●●●
1113. 237924314 c.11462C>T p.T3821I missense 0.00003052●●●●●●
1114. 237934127 c.11497G>A p.D3833N missense 0.00004450●●●●●●
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1116. 237936822 c.11649A>T p.E3883D missense 0.00000847●●●●●●
1117. 237936868 c.11695G>A p.D3899N missense 0.00000841●●●●●●
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1119. 237941960 c.11776-6C>T splice site 0.00000836●●●●●●
1120. 237942017 c.11827G>A p.A3943T missense 0.00000829●●●●●●
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1122. 237942074 c.11880+4_11880+7delAACT splice site 0.00004159●●●●●●
1123. 237944861 c.11881-4T>C splice site 0.00002840●●●●●●
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1127. 237946971 c.11963-4C>T splice site 0.00003720●●●●●●
1128. 237946973 c.11963-2A>G essential splice site 0.00001216●●●●●●
1129. 237946986 c.11974A>C p.N3992H missense 0.00001124●●●●●●
1130. 237947010 c.11998G>A p.V4000M missense 0.00002001●●●●●●
1131. 237947043 c.12031G>C p.E4011Q missense 0.00000945●●●●●●
1132. 237947059 c.12047T>A p.F4016Y missense 0.00010211●●●●●●
1133. 237947069 c.12057G>A p.M4019I missense 0.00001839●●●●●●
1134. 237947088 c.12076T>G p.L4026V missense 0.00000896●●●●●●
1135. 237947089 c.12077T>G p.L4026W missense 0.00000895●●●●●●
1136. 237947095 c.12083C>T p.S4028L missense 0.00000886●●●●●●
1137. 237947103 c.12091A>G p.T4031A missense 0.00004370●●●●●●
1138. 237947104 c.12092C>A p.T4031N missense 0.00002619●●●●●●
1139. 237947118 c.12106G>A p.D4036N missense 0.00009481●●●●●●
1140. 237947128 c.12116G>T p.G4039V missense 0.00000854●●●●●●
1141. 237947154 c.12142T>G p.F4048V missense 0.00000849●●●●●●
1142. 237947172 c.12160A>G p.S4054G missense 0.00000850●●●●●●
1143. 237947175 c.12163C>G p.H4055D missense 0.00000851●●●●●●
1144. 237947179 c.12167A>G p.K4056R missense 0.00000852●●●●●●
1145. 237947188 c.12176C>T p.T4059M missense 0.00000854●●●●●●
1146. 237947221 c.12209C>T p.A4070V missense 0.00000860●●●●●●
1147. 237947221 c.12209C>A p.A4070E missense 0.00000860●●●●●●
1148. 237947223 c.12211G>A p.E4071K missense 0.00000857●●●●●●
1149. 237947229 c.12217G>A p.D4073N missense 0.00000857●●●●●●
1150. 237947230 c.12218A>G p.D4073G missense 0.00000856●●●●●●
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1152. 237947248 c.12236A>G p.D4079G missense 0.00000855●●●●●●
1153. 237947253 c.12241G>A p.E4081K missense 0.00002565●●●●●●
1154. 237947256 c.12244G>A p.E4082K missense 0.00002562●●●●●●
1155. 237947261 c.12249C>A p.F4083L missense 0.00000854●●●●●●
1156. 237947269 c.12257G>A p.R4086H missense 0.00000853●●●●●●
1157. 237947295 c.12283G>A p.G4095S missense 0.00000847●●●●●●
1158. 237947310 c.12298G>A p.V4100I missense 0.00000840●●●●●●
1159. 237947343 c.12331A>C p.N4111H missense 0.00002501●●●●●●
1160. 237947381 c.12369G>C p.E4123D missense 0.00000831●●●●●●
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1163. 237947416 c.12404G>A p.R4135H missense 0.00004146●●●●●●
1164. 237947428 c.12416T>C p.M4139T missense 0.00000829●●●●●●
1165. 237947439 c.12427A>C p.K4143Q missense 0.00004143●●●●●●
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1171. 237947659 c.12647C>T p.A4216V missense 0.00000830●●●●●●
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1176. 237947677 c.12665_12667delAGA p.Lys4223del inframe 0.00009141●●●●●●
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1178. 237947696 c.12684G>T p.E4228D missense 0.00001668●●●●●●
1179. 237947707 c.12695G>A p.R4232K missense 0.00000837●●●●●●
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1185. 237947775 c.12763C>T p.L4255F missense 0.00000846●●●●●●
1186. 237947779 c.12767T>C p.M4256T missense 0.00005078●●●●●●
1187. 237947781 c.12769C>T p.R4257X nonsense 0.00001695●●●●●●
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1189. 237947812 c.12800A>G p.Q4267R missense 0.00004228●●●●●●
1190. 237947823 c.12811G>A p.V4271I missense 0.00000845●●●●●●
1191. 237947829 c.12817A>G p.K4273E missense 0.00000843●●●●●●
1192. 237947838 c.12826G>A p.V4276M missense 0.00004202●●●●●●
1193. 237947847 c.12835A>G p.M4279V missense 0.00000837●●●●●●
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1195. 237947853 c.12841A>T p.T4281S missense 0.00000836●●●●●●
1196. 237947854 c.12842C>T p.T4281M missense 0.00009195●●●●●●
1197. 237947857 c.12845C>T p.A4282V missense 0.00001670●●●●●●
1198. 237947863 c.12851T>C p.F4284S missense 0.00000834●●●●●●
1199. 237947866 c.12854C>T p.S4285L missense 0.00000834●●●●●●
1200. 237947871 c.12859T>C p.Y4287H missense 0.00000833●●●●●●
1201. 237947873 c.12861C>A p.Tyr4287Ter nonsense 0.00000833●●●●●●
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1203. 237947904 c.12892G>A p.V4298M missense 0.00000830●●●●●●
1204. 237947913 c.12901G>C p.V4301L missense 0.00000829●●●●●●
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1206. 237947931 c.12919C>T p.R4307C missense 0.00022382●●●●●●
1207. 237947932 c.12920G>A p.R4307H missense 0.00001658●●●●●●
1208. 237947956 c.12944G>A p.G4315E missense 0.00002487●●●●●●
1209. 237947974 c.12962G>T p.G4321V missense 0.00000831●●●●●●
1210. 237947991 c.12979G>C p.V4327L missense 0.00000834●●●●●●
1211. 237947995 c.12983C>T p.A4328V missense 0.00000836●●●●●●
1212. 237948020 c.13008C>A p.D4336E missense 0.00000842●●●●●●
1213. 237948034 c.13022A>C p.E4341A missense 0.00000845●●●●●●
1214. 237948047 c.13035T>A p.D4345E missense 0.00000846●●●●●●
1215. 237948081 c.13069G>A p.A4357T missense 0.00022763●●●●●●
1216. 237948099 c.13087C>G p.L4363V missense 0.00000836●●●●●●
1217. 237948100 c.13088T>C p.L4363P missense 0.00000836●●●●●●
1218. 237948105 c.13093G>A p.D4365N missense 0.00002503●●●●●●
1219. 237948181 c.13169A>G p.Q4390R missense 0.00000962●●●●●●
1220. 237948187 c.13175A>G p.K4392R missense 0.00000994●●●●●●
1221. 237948203 c.13191T>A p.N4397K missense 0.00001110●●●●●●
1222. 237948207 c.13195A>G p.N4399D missense 0.00002279●●●●●●
1223. 237948210 c.13198G>T p.A4400S missense 0.00001172●●●●●●
1224. 237948225 c.13213C>T p.L4405F missense 0.00001301●●●●●●
1225. 237948229 c.13217T>A p.M4406K missense 0.00001338●●●●●●
1226. 237948232 c.13220G>A p.S4407N missense 0.00008269●●●●●●
1227. 237948241 c.13229T>C p.V4410A missense 0.00001502●●●●●●
1228. 237949265 c.13261-4C>A splice site 0.00002063●●●●●●
1229. 237949270 c.13262A>C p.E4421A missense 0.00002061●●●●●●
1230. 237949275 c.13267A>C p.K4423Q missense 0.00002072●●●●●●
1231. 237949282 c.13274_13276delAAG p.Glu4428del inframe 0.00002091●●●●●●
1232. 237949292 c.13284A>C p.E4428D missense 0.00002115●●●●●●
1233. 237949299 c.13291G>A p.E4431K missense 0.00040787●●●●●●
1234. 237949302 c.13294A>C p.K4432Q missense 0.00002124●●●●●●
1235. 237949309 c.13301A>C p.E4434A missense 0.00002162●●●●●●
1236. 237949311 c.13303A>G p.T4435A missense 0.00002182●●●●●●
1237. 237949323 c.13315C>A p.P4439T missense 0.00002273●●●●●●
1238. 237949334 c.13326C>T splice site 0.00004763●●●●●●
1239. 237949339 c.13328+3A>G splice site 0.00002434●●●●●●
1240. 237949344 c.13328+8T>C splice site 0.00002512●●●●●●
1241. 237951284 c.13329-4A>G splice site 0.00002552●●●●●●
1242. 237951284 c.13329-4A>T splice site 0.00002552●●●●●●
1243. 237951285 c.13329-3T>C splice site 0.00010116●●●●●●
1244. 237951299 c.13340G>A p.G4447E missense 0.00002179●●●●●●
1245. 237951310 c.13351G>A p.E4451K missense 0.00003937●●●●●●
1246. 237951329 c.13370A>G p.K4457R missense 0.00001537●●●●●●
1247. 237951330 c.13371G>T p.K4457N missense 0.00001520●●●●●●
1248. 237951338 c.13379A>G p.Q4460R missense 0.00002766●●●●●●
1249. 237951358 c.13399A>G p.T4467A missense 0.00001146●●●●●●
1250. 237951365 c.13406G>C p.R4469T missense 0.00001089●●●●●●
1251. 237951368 c.13409A>G p.Y4470C missense 0.00001068●●●●●●
1252. 237951412 c.13453A>G p.I4485V missense 0.00000948●●●●●●
1253. 237951416 c.13457C>G p.A4486G missense 0.00000947●●●●●●
1254. 237951435 c.13476A>T splice site 0.00000945●●●●●●
1255. 237954728 c.13477-1G>C essential splice site 0.00003161●●●●●●
1256. 237954780 c.13528G>A p.A4510T missense 0.00005747●●●●●●
1257. 237954822 c.13563+7A>G splice site 0.00003440●●●●●●
1258. 237955398 c.13564-7G>C splice site 0.00002982●●●●●●
1259. 237955399 c.13564-6A>C splice site 0.00002926●●●●●●
1260. 237955407 c.13566C>T p.V4522V splice site 0.00222840●●●●●●
1261. 237955411 c.13570A>G p.T4524A missense 0.00002457●●●●●●
1262. 237955412 c.13571C>T p.T4524I missense 0.00002422●●●●●●
1263. 237955412 c.13571_13573delCTT p.Ser4526del inframe 0.00002457●●●●●●
1264. 237955441 c.13600C>T p.P4534S missense 0.00007994●●●●●●
1265. 237955442 c.13601C>T p.P4534L missense 0.00001574●●●●●●
1266. 237955445 c.13604C>T p.T4535M missense 0.00001501●●●●●●
1267. 237955456 c.13615A>C p.S4539R missense 0.00001255●●●●●●
1268. 237955468 c.13627A>G p.K4543E missense 0.00010017●●●●●●
1269. 237955468 c.13627A>T p.K4543X nonsense 0.00001113●●●●●●
1270. 237955478 c.13637G>A p.S4546N missense 0.00001027●●●●●●
1271. 237955482 c.13641delG p.Asp4548ThrfsTer14 frameshift 0.00000989●●●●●●
1272. 237955496 c.13655A>G p.H4552R missense 0.00000900●●●●●●
1273. 237955507 c.13666G>A p.A4556T missense 0.00002601●●●●●●
1274. 237955513 c.13672C>T p.H4558Y missense 0.00020481●●●●●●
1275. 237955531 c.13690A>G p.S4564G missense 0.00000839●●●●●●
1276. 237955553 c.13712C>T p.T4571M missense 0.00000834●●●●●●
1277. 237955558 c.13717C>A p.R4573S missense 0.00000834●●●●●●
1278. 237955559 c.13718G>A p.R4573H missense 0.00000834●●●●●●
1279. 237955631 c.13782+8_13782+11delAGTA splice site 0.00001774●●●●●●
1280. 237957160 c.13783-7T>C splice site 0.00002786●●●●●●
1281. 237957161 c.13783-6A>G splice site 0.73988781●●●●●●
1282. 237957249 c.13865C>T p.S4622L missense 0.00000837●●●●●●
1283. 237957259 c.13875T>G p.D4625E missense 0.00000836●●●●●●
1284. 237957284 c.13900G>A p.V4634I missense 0.00000836●●●●●●
1285. 237957289 c.13905C>G p.I4635M missense 0.00000837●●●●●●
1286. 237957291 c.13907A>G p.N4636S missense 0.00000836●●●●●●
1287. 237961330 c.13957-7delC splice site 0.00001141●●●●●●
1288. 237961332 c.13957-5C>G splice site 0.00003391●●●●●●
1289. 237961337 c.13957G>A p.V4653I missense 0.00007794●●●●●●
1290. 237961356 c.13976A>G p.E4659G missense 0.00001072●●●●●●
1291. 237961365 c.13985G>T p.G4662V missense 0.00001051●●●●●●
1292. 237961377 c.13997T>C p.I4666T missense 0.00001023●●●●●●
1293. 237961388 c.14008C>G p.L4670V missense 0.00001011●●●●●●
1294. 237961406 c.14026G>T p.A4676S missense 0.00000990●●●●●●
1295. 237961428 c.14048G>A p.R4683K missense 0.00001928●●●●●●
1296. 237961429 c.14049A>T p.R4683S missense 0.00001925●●●●●●
1297. 237965148 c.14091-8C>T splice site 0.00002560●●●●●●
1298. 237965149 c.14091-7A>T splice site 0.00002526●●●●●●
1299. 237965153 c.14091-3C>A splice site 0.00000839●●●●●●
1300. 237965163 c.14098T>G p.S4700A missense 0.00001675●●●●●●
1301. 237965166 c.14101A>G p.I4701V missense 0.00026795●●●●●●
1302. 237965183 c.14118G>C p.Q4706H missense 0.00000837●●●●●●
1303. 237965199 c.14134G>T p.V4712F missense 0.00000839●●●●●●
1304. 237965217 c.14151+1G>A essential splice site 0.00000849●●●●●●
1305. 237969434 c.14152-3T>C splice site 0.00000833●●●●●●
1306. 237969438 c.14153C>A p.S4718Y missense 0.00000832●●●●●●
1307. 237969452 c.14167G>A p.A4723T missense 0.00001661●●●●●●
1308. 237969457 c.14172G>C p.W4724C missense 0.00000830●●●●●●
1309. 237969494 c.14209delT p.Phe4739LeufsTer15 frameshift 0.00220303●●●●●●
1310. 237969494 c.14209dupT p.Ala4740CysfsTer56 frameshift 0.00009655●●●●●●
1311. 237969533 c.14248T>C p.F4750L missense 0.00000828●●●●●●
1312. 237969558 c.14273C>T p.S4758F missense 0.00000829●●●●●●
1313. 237969589 c.14298+6C>T splice site 0.00000830●●●●●●
1314. 237972203 c.14301C>T p.L4767L splice site 0.00002484●●●●●●
1315. 237972204 c.14302G>A p.V4768I missense 0.00001656●●●●●●
1316. 237972246 c.14344A>G p.T4782A missense 0.00001656●●●●●●
1317. 237972271 c.14369G>A p.R4790Q missense 0.00000828●●●●●●
1318. 237972306 c.14404C>T p.P4802S missense 0.00000828●●●●●●
1319. 237972324 c.14422G>A p.D4808N missense 0.00000828●●●●●●
1320. 237972340 c.14433+5G>C splice site 0.00000828●●●●●●
1321. 237982395 c.14493C>G p.I4831M missense 0.00000829●●●●●●
1322. 237982415 c.14513A>G p.E4838G missense 0.00000828●●●●●●
1323. 237982465 c.14563A>G p.I4855V missense 0.00000828●●●●●●
1324. 237982495 c.14590+3A>G splice site 0.00000829●●●●●●
1325. 237982499 c.14590+7A>G splice site 0.00000830●●●●●●
1326. 237982500 c.14590+8_14590+10delTCC splice site 0.00001659●●●●●●
1327. 237993832 c.14658C>G splice site 0.00000828●●●●●●
1328. 237993842 c.14668A>G p.I4890V missense 0.00000828●●●●●●
1329. 237993852 c.14678T>C p.I4893T missense 0.00000828●●●●●●
1330. 237993862 c.14688T>A p.D4896E missense 0.00000828●●●●●●
1331. 237993882 c.14708A>G p.H4903R missense 0.00001657●●●●●●
1332. 237993931 c.14756+1G>A essential splice site 0.00000833●●●●●●
1333. 237994807 c.14757-7T>A splice site 0.00023723●●●●●●
1334. 237994808 c.14757-6C>T splice site 0.00024573●●●●●●
1335. 237994814 c.14757_14758insT p.Leu4922SerfsTer9 frameshift 0.00000896●●●●●●
1336. 237994868 c.14808+3A>G splice site 0.00013912●●●●●●
1337. 237995912 c.14869T>A p.C4957S missense 0.00000847●●●●●●
1338. 237995918 c.14875C>T p.R4959W missense 0.00002551●●●●●●
1339. 237995926 c.14883G>T p.Q4961H missense 0.00000856●●●●●●
1340. 237995927 c.14884T>A p.Y4962N missense 0.00001713●●●●●●
1341. 237995945 c.14902_14903insAA frameshift 0.00000880●●●●●●

* 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.