RYR2 non-truncating variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 non-truncating 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. 237433797 c.49G>A p.D17N missense 0.00003108●●●●●●
2. 237433824 c.76G>A p.A26T missense 0.00009908●●●●●●
3. 237433834 c.86A>G p.H29R missense 0.00002252●●●●●●
4. 237433860 c.112G>T p.A38S missense 0.00002094●●●●●●
5. 237433867 c.119A>G p.E40G missense 0.00002080●●●●●●
6. 237433884 c.136C>A p.L46I missense 0.00002188●●●●●●
7. 237433891 c.143T>C p.F48S missense 0.00004480●●●●●●
8. 237494205 c.196A>G p.T66A missense 0.00000828●●●●●●
9. 237494211 c.202G>C p.V68L missense 0.00000828●●●●●●
10. 237494212 c.203T>G p.V68G missense 0.00000828●●●●●●
11. 237494226 c.217C>G p.L73V missense 0.00000828●●●●●●
12. 237494235 c.226C>T p.R76W missense 0.00000828●●●●●●
13. 237494244 c.235C>A p.Q79K missense 0.00000828●●●●●●
14. 237494263 c.254C>T p.T85I missense 0.00000828●●●●●●
15. 237494280 c.271G>C p.G91R missense 0.00000829●●●●●●
16. 237527664 c.301A>T p.M101L missense 0.00002135●●●●●●
17. 237532864 c.340C>G p.L114V missense 0.00003701●●●●●●
18. 237532877 c.353C>T p.A118V missense 0.00007329●●●●●●
19. 237538033 c.401C>G p.S134C missense 0.00001019●●●●●●
20. 237538041 c.409C>T p.R137W missense 0.00001988●●●●●●
21. 237538044 c.412T>G p.S138A missense 0.00001972●●●●●●
22. 237538090 c.458C>T p.T153I missense 0.00002166●●●●●●
23. 237538093 c.461C>G p.T154R missense 0.00001097●●●●●●
24. 237540628 c.469G>T p.A157S missense 0.00001693●●●●●●
25. 237540649 c.490C>A p.P164T missense 0.00001673●●●●●●
26. 237540713 c.554G>C p.S185T missense 0.00000836●●●●●●
27. 237540715 c.556G>A p.V186M missense 0.00004184●●●●●●
28. 237550600 c.596G>T p.G199V missense 0.00001656●●●●●●
29. 237550627 c.623A>G p.Q208R missense 0.00000828●●●●●●
30. 237550629 c.625C>G p.Q209E missense 0.00000828●●●●●●
31. 237550633 c.629C>T p.T210I missense 0.00000828●●●●●●
32. 237551395 c.685A>G p.I229V missense 0.00000841●●●●●●
33. 237551429 c.719A>G p.H240R missense 0.00000840●●●●●●
34. 237551431 c.721A>G p.M241V missense 0.00000841●●●●●●
35. 237551438 c.728A>G p.E243G missense 0.00000842●●●●●●
36. 237551447 c.737C>T p.T246I missense 0.00000846●●●●●●
37. 237551452 c.742C>T p.P248S missense 0.00000850●●●●●●
38. 237551479 c.769C>T p.R257W missense 0.00001784●●●●●●
39. 237580350 c.775A>G p.T259A missense 0.00000836●●●●●●
40. 237580351 c.776C>A p.T259N missense 0.00000836●●●●●●
41. 237580363 c.788A>C p.E263A missense 0.00000832●●●●●●
42. 237580371 c.796G>A p.A266T missense 0.00001663●●●●●●
43. 237580371 c.796G>T p.A266S missense 0.00000832●●●●●●
44. 237580375 c.800T>G p.V267G missense 0.00000832●●●●●●
45. 237580383 c.808C>T p.H270Y missense 0.00000832●●●●●●
46. 237580389 c.814C>T p.R272C missense 0.00000832●●●●●●
47. 237580390 c.815G>T p.R272L missense 0.00003328●●●●●●
48. 237580411 c.836C>T p.T279M missense 0.00000836●●●●●●
49. 237586408 c.865A>G p.I289V missense 0.00000829●●●●●●
50. 237586422 c.879G>C p.Q293H missense 0.00000828●●●●●●
51. 237586427 c.884T>C p.F295S missense 0.00000828●●●●●●
52. 237586436 c.893G>A p.R298H missense 0.00000828●●●●●●
53. 237586440 c.897T>A p.H299Q missense 0.00000828●●●●●●
54. 237586483 c.940_942delCTT p.Leu316del inframe 0.00000829●●●●●●
55. 237586492 c.949A>G p.M317V missense 0.00000829●●●●●●
56. 237586493 c.950T>C p.M317T missense 0.00003317●●●●●●
57. 237586495 c.952G>A p.D318N missense 0.00000829●●●●●●
58. 237586525 c.982G>A p.A328T missense 0.00001674●●●●●●
59. 237604637 c.1024G>A p.V342M missense 0.00000829●●●●●●
60. 237604656 c.1043G>A p.G348D missense 0.00002485●●●●●●
61. 237604683 c.1070G>A p.G357D missense 0.00000829●●●●●●
62. 237604691 c.1078G>A p.V360I missense 0.00000829●●●●●●
63. 237604705 c.1092A>C p.Q364H missense 0.00000829●●●●●●
64. 237604728 c.1115T>A p.L372H missense 0.00000830●●●●●●
65. 237604746 c.1133A>C p.D378A missense 0.00000832●●●●●●
66. 237604748 c.1135G>T p.V379L missense 0.00000833●●●●●●
67. 237604757 c.1144G>A p.V382M missense 0.00009186●●●●●●
68. 237604767 c.1154G>C p.G385A missense 0.00000839●●●●●●
69. 237604772 c.1159A>C p.I387L missense 0.00000843●●●●●●
70. 237604775 c.1162C>A p.Q388K missense 0.00000846●●●●●●
71. 237604776 c.1163A>G p.Q388R missense 0.00000848●●●●●●
72. 237604778 c.1165C>T p.R389C missense 0.00003396●●●●●●
73. 237604779 c.1166G>A p.R389H missense 0.00002556●●●●●●
74. 237608702 c.1172C>G p.A391G missense 0.00000829●●●●●●
75. 237608704 c.1174A>G p.I392V missense 0.00001658●●●●●●
76. 237608713 c.1183C>T p.H395Y missense 0.00000829●●●●●●
77. 237608737 c.1207A>G p.I403V missense 0.00000829●●●●●●
78. 237608737 c.1207A>C p.I403L missense 0.00001658●●●●●●
79. 237608747 c.1217C>T p.S406L missense 0.00001658●●●●●●
80. 237608767 c.1237T>C p.S413P missense 0.00000829●●●●●●
81. 237608770 c.1240C>T p.R414C missense 0.00000829●●●●●●
82. 237608779 c.1249C>G p.R417G missense 0.00000829●●●●●●
83. 237608780 c.1250G>A p.R417Q missense 0.00002487●●●●●●
84. 237608788 c.1258C>T p.R420W missense 0.00001658●●●●●●
85. 237608802 c.1272C>G p.F424L missense 0.00002488●●●●●●
86. 237608814 c.1284A>T p.R428S missense 0.00001660●●●●●●
87. 237617702 c.1304C>T p.A435V missense 0.00004181●●●●●●
88. 237617716 c.1318G>A p.A440T missense 0.00000832●●●●●●
89. 237617717 c.1319C>T p.A440V missense 0.00001665●●●●●●
90. 237617717 c.1319C>A p.A440E missense 0.00000832●●●●●●
91. 237617722 c.1324G>T p.A442S missense 0.00002495●●●●●●
92. 237617734 c.1336G>A p.D446N missense 0.00000831●●●●●●
93. 237617743 c.1345A>G p.I449V missense 0.00000831●●●●●●
94. 237617744 c.1346T>G p.I449R missense 0.00000830●●●●●●
95. 237617752 c.1354G>A p.V452I missense 0.00005813●●●●●●
96. 237617756 c.1358G>C p.S453T missense 0.00006642●●●●●●
97. 237617768 c.1370A>G p.Q457R missense 0.00000830●●●●●●
98. 237617777 c.1379T>C p.I460T missense 0.00000830●●●●●●
99. 237617779 c.1381G>T p.G461C missense 0.00000831●●●●●●
100. 237617790 c.1392C>A p.H464Q missense 0.00004988●●●●●●
101. 237617797 c.1399G>A p.D467N missense 0.00001663●●●●●●
102. 237617805 c.1407T>G p.H469Q missense 0.00000832●●●●●●
103. 237617821 c.1423A>C p.K475Q missense 0.00000834●●●●●●
104. 237617822 c.1424A>G p.K475R missense 0.00000835●●●●●●
105. 237617852 c.1454G>A p.R485Q missense 0.00008645●●●●●●
106. 237619915 c.1492G>A p.V498M missense 0.00002504●●●●●●
107. 237619918 c.1495C>T p.L499F missense 0.00000834●●●●●●
108. 237619922 c.1499A>C p.E500A missense 0.00000833●●●●●●
109. 237619931 c.1508A>G p.D503G missense 0.00000832●●●●●●
110. 237619932 c.1509C>A p.D503E missense 0.00000832●●●●●●
111. 237619933 c.1510C>T p.R504C missense 0.00000832●●●●●●
112. 237619957 c.1534G>C p.A512P missense 0.00000830●●●●●●
113. 237619982 c.1559G>A p.R520Q missense 0.00000829●●●●●●
114. 237619984 c.1561G>A p.E521K missense 0.00009123●●●●●●
115. 237619995 c.1572G>C p.E524D missense 0.00000829●●●●●●
116. 237620003 c.1580A>G p.K527R missense 0.00000829●●●●●●
117. 237620009 c.1586T>C p.I529T missense 0.00000829●●●●●●
118. 237620023 c.1600T>C p.Y534H missense 0.00000830●●●●●●
119. 237632395 c.1616C>T p.A539V missense 0.00000832●●●●●●
120. 237632419 c.1640A>C p.N547T missense 0.00000830●●●●●●
121. 237632454 c.1675A>G p.I559V missense 0.00004151●●●●●●
122. 237632457 c.1678A>T p.S560C missense 0.00000830●●●●●●
123. 237632457 c.1678A>G p.S560G missense 0.00000830●●●●●●
124. 237632472 c.1693C>G p.L565V missense 0.00000832●●●●●●
125. 237632478 c.1699G>C p.A567P missense 0.00001667●●●●●●
126. 237656263 c.1837G>A p.V613I missense 0.00002601●●●●●●
127. 237656270 c.1844G>A p.C615Y missense 0.00002271●●●●●●
128. 237656276 c.1850T>C p.L617P missense 0.00001987●●●●●●
129. 237656290 c.1864G>A p.G622R missense 0.00001463●●●●●●
130. 237656302 c.1876C>T p.R626C missense 0.00002437●●●●●●
131. 237656327 c.1901A>G p.D634G missense 0.00000958●●●●●●
132. 237656353 c.1927T>A p.L643I missense 0.00000885●●●●●●
133. 237656363 c.1937C>T p.T646I missense 0.00000878●●●●●●
134. 237656366 c.1940G>A p.R647H missense 0.00001752●●●●●●
135. 237656377 c.1951C>T p.H651Y missense 0.00001745●●●●●●
136. 237659822 c.1973A>G p.N658S missense 0.00004144●●●●●●
137. 237659825 c.1976T>G p.I659S missense 0.00001657●●●●●●
138. 237659836 c.1987G>A p.V663I missense 0.00004142●●●●●●
139. 237659858 c.2009A>G p.Y670C missense 0.00000828●●●●●●
140. 237659873 c.2024A>G p.Y675C missense 0.00001656●●●●●●
141. 237659878 c.2029T>A p.L677M missense 0.00000828●●●●●●
142. 237659888 c.2039A>G p.D680G missense 0.00001656●●●●●●
143. 237659894 c.2045C>G p.T682R missense 0.00003312●●●●●●
144. 237659897 c.2048A>C p.E683A missense 0.00001656●●●●●●
145. 237659930 c.2081G>A p.R694Q missense 0.00000828●●●●●●
146. 237659950 c.2101G>C p.E701Q missense 0.00000828●●●●●●
147. 237659953 c.2104G>A p.G702R missense 0.00004140●●●●●●
148. 237659972 c.2123G>C p.G708A missense 0.00000828●●●●●●
149. 237659974 c.2125G>T p.G709W missense 0.00000828●●●●●●
150. 237660012 c.2163T>A p.D721E missense 0.00000828●●●●●●
151. 237660023 c.2174A>G p.Y725C missense 0.00001659●●●●●●
152. 237660037 c.2188C>T p.L730F missense 0.00002495●●●●●●
153. 237664020 c.2213C>G p.A738G missense 0.00000850●●●●●●
154. 237664025 c.2218A>G p.T740A missense 0.00000842●●●●●●
155. 237664028 c.2221G>T p.V741L missense 0.00000839●●●●●●
156. 237664029 c.2222T>C p.V741A missense 0.00000838●●●●●●
157. 237664033 c.2226C>G p.S742R missense 0.00001672●●●●●●
158. 237664049 c.2242C>A p.L748M missense 0.00000830●●●●●●
159. 237664067 c.2260G>T p.V754F missense 0.00000829●●●●●●
160. 237664080 c.2273G>C p.C758S missense 0.00000828●●●●●●
161. 237664082 c.2275T>A p.L759I missense 0.00004142●●●●●●
162. 237664101 c.2294G>A p.S765N missense 0.00001656●●●●●●
163. 237664107 c.2300C>T p.S767L missense 0.00000828●●●●●●
164. 237664109 c.2302T>G p.F768V missense 0.00000828●●●●●●
165. 237664113 c.2306G>A p.R769Q missense 0.00000828●●●●●●
166. 237664127 c.2320C>A p.P774T missense 0.00000828●●●●●●
167. 237664130 c.2323G>A p.V775I missense 0.00000828●●●●●●
168. 237664141 c.2334G>C p.M778I missense 0.00000828●●●●●●
169. 237664155 c.2348A>G p.N783S missense 0.00002484●●●●●●
170. 237664160 c.2353G>A p.D785N missense 0.00000828●●●●●●
171. 237664164 c.2357G>A p.G786D missense 0.00000828●●●●●●
172. 237664171 c.2364C>A p.F788L missense 0.00002484●●●●●●
173. 237664181 c.2374G>A p.V792I missense 0.00000828●●●●●●
174. 237664196 c.2389G>A p.G797R missense 0.00005801●●●●●●
175. 237664201 c.2394A>G p.I798M missense 0.00001658●●●●●●
176. 237666594 c.2402G>T p.R801L missense 0.00005509●●●●●●
177. 237666609 c.2417G>A p.G806E missense 0.00001338●●●●●●
178. 237666612 c.2420G>A p.R807Q missense 0.00002475●●●●●●
179. 237666615 c.2423A>G p.H808R missense 0.00001141●●●●●●
180. 237666627 c.2435A>G p.K812R missense 0.00000987●●●●●●
181. 237666629 c.2437T>G p.F813V missense 0.00000970●●●●●●
182. 237666635 c.2443C>T p.P815S missense 0.00001842●●●●●●
183. 237666641 c.2449C>G p.P817A missense 0.00004403●●●●●●
184. 237666642 c.2450C>T p.P817L missense 0.00000876●●●●●●
185. 237666651 c.2459C>G p.A820G missense 0.00000848●●●●●●
186. 237666656 c.2464T>G p.C822G missense 0.00000841●●●●●●
187. 237666657 c.2465G>A p.C822Y missense 0.00000839●●●●●●
188. 237666675 c.2483C>A p.P828Q missense 0.00000830●●●●●●
189. 237666698 c.2506C>A p.H836N missense 0.00000828●●●●●●
190. 237666705 c.2513G>A p.R838Q missense 0.00000828●●●●●●
191. 237666734 c.2542C>T p.R848C missense 0.00000828●●●●●●
192. 237666737 c.2545G>A p.D849N missense 0.00002485●●●●●●
193. 237666739 c.2547C>A p.D849E missense 0.00000828●●●●●●
194. 237666749 c.2557C>T p.P853S missense 0.00000828●●●●●●
195. 237666758 c.2566T>C p.S856P missense 0.00002485●●●●●●
196. 237666762 c.2570T>A p.L857Q missense 0.00000828●●●●●●
197. 237666765 c.2573C>T p.T858M missense 0.00004142●●●●●●
198. 237670011 c.2615T>C p.I872T missense 0.00004932●●●●●●
199. 237670013 c.2617G>A p.V873M missense 0.00001915●●●●●●
200. 237670023 c.2627C>T p.P876L missense 0.00001807●●●●●●
201. 237670031 c.2635G>C p.E879Q missense 0.00000884●●●●●●
202. 237670037 c.2641A>G p.I881V missense 0.00000873●●●●●●
203. 237670038 c.2642T>G p.I881R missense 0.00006953●●●●●●
204. 237670038 c.2642T>A p.I881K missense 0.00003476●●●●●●
205. 237670041 c.2645G>A p.R882K missense 0.00000864●●●●●●
206. 237670046 c.2650A>G p.K884E missense 0.00000857●●●●●●
207. 237670052 c.2656G>C p.A886P missense 0.00000851●●●●●●
208. 237670055 c.2659G>A p.E887K missense 0.00000849●●●●●●
209. 237670062 c.2666T>C p.I889T missense 0.00001693●●●●●●
210. 237670094 c.2698C>T p.L900F missense 0.00001700●●●●●●
211. 237670112 c.2716C>G p.P906A missense 0.00001723●●●●●●
212. 237670113 c.2717C>T p.P906L missense 0.00001726●●●●●●
213. 237675030 c.2761T>A p.F921I missense 0.00003076●●●●●●
214. 237693737 c.2833G>T p.A945S missense 0.00001476●●●●●●
215. 237693755 c.2851G>A p.G951S missense 0.00001349●●●●●●
216. 237693765 c.2861A>G p.D954G missense 0.00001351●●●●●●
217. 237693767 c.2863G>A p.E955K missense 0.00001371●●●●●●
218. 237711733 c.2909A>G p.Y970C missense 0.00004380●●●●●●
219. 237711742 c.2918C>G p.T973R missense 0.00000862●●●●●●
220. 237711756 c.2932C>G p.P978A missense 0.00000850●●●●●●
221. 237711765 c.2941A>G p.M981V missense 0.00000846●●●●●●
222. 237711775 c.2951G>A p.S984N missense 0.00000841●●●●●●
223. 237711796 c.2972C>T p.S991L missense 0.00000837●●●●●●
224. 237711802 c.2978A>G p.E993G missense 0.00000829●●●●●●
225. 237711818 c.2994G>T p.K998N missense 0.00000829●●●●●●
226. 237711822 c.2998G>T p.A1000S missense 0.00000830●●●●●●
227. 237711835 c.3011A>C p.H1004P missense 0.00000830●●●●●●
228. 237711837 c.3013A>G p.N1005D missense 0.00000830●●●●●●
229. 237711849 c.3025C>T p.R1009W missense 0.00005810●●●●●●
230. 237711850 c.3026G>A p.R1009Q missense 0.00002490●●●●●●
231. 237711852 c.3028G>T p.D1010Y missense 0.00000830●●●●●●
232. 237711852 c.3028G>A p.D1010N missense 0.00000830●●●●●●
233. 237711861 c.3037C>T p.R1013W missense 0.00000831●●●●●●
234. 237711862 c.3038G>T p.R1013L missense 0.00000831●●●●●●
235. 237711879 c.3055G>A p.G1019S missense 0.00001668●●●●●●
236. 237711889 c.3065A>G p.Q1022R missense 0.00000837●●●●●●
237. 237713848 c.3071T>C p.V1024A missense 0.00001315●●●●●●
238. 237713851 c.3074A>G p.K1025R missense 0.00001313●●●●●●
239. 237713869 c.3092G>A p.R1031H missense 0.00001333●●●●●●
240. 237713883 c.3106A>T p.T1036S missense 0.00001410●●●●●●
241. 237713884 c.3107C>G p.T1036S missense 0.00001408●●●●●●
242. 237713886 c.3109C>G p.L1037V missense 0.00001431●●●●●●
243. 237713893 c.3116A>T p.D1039V missense 0.00002987●●●●●●
244. 237713899 c.3122G>A p.R1041Q missense 0.00001554●●●●●●
245. 237713914 c.3137A>G p.N1046S missense 0.00001706●●●●●●
246. 237713929 c.3152G>A p.R1051H missense 0.00008803●●●●●●
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966. 237951299 c.13340G>A p.G4447E missense 0.00002179●●●●●●
967. 237951310 c.13351G>A p.E4451K missense 0.00003937●●●●●●
968. 237951329 c.13370A>G p.K4457R missense 0.00001537●●●●●●
969. 237951330 c.13371G>T p.K4457N missense 0.00001520●●●●●●
970. 237951338 c.13379A>G p.Q4460R missense 0.00002766●●●●●●
971. 237951358 c.13399A>G p.T4467A missense 0.00001146●●●●●●
972. 237951365 c.13406G>C p.R4469T missense 0.00001089●●●●●●
973. 237951368 c.13409A>G p.Y4470C missense 0.00001068●●●●●●
974. 237951412 c.13453A>G p.I4485V missense 0.00000948●●●●●●
975. 237951416 c.13457C>G p.A4486G missense 0.00000947●●●●●●
976. 237954780 c.13528G>A p.A4510T missense 0.00005747●●●●●●
977. 237955411 c.13570A>G p.T4524A missense 0.00002457●●●●●●
978. 237955412 c.13571C>T p.T4524I missense 0.00002422●●●●●●
979. 237955412 c.13571_13573delCTT p.Ser4526del inframe 0.00002457●●●●●●
980. 237955441 c.13600C>T p.P4534S missense 0.00007994●●●●●●
981. 237955442 c.13601C>T p.P4534L missense 0.00001574●●●●●●
982. 237955445 c.13604C>T p.T4535M missense 0.00001501●●●●●●
983. 237955456 c.13615A>C p.S4539R missense 0.00001255●●●●●●
984. 237955478 c.13637G>A p.S4546N missense 0.00001027●●●●●●
985. 237955496 c.13655A>G p.H4552R missense 0.00000900●●●●●●
986. 237955507 c.13666G>A p.A4556T missense 0.00002601●●●●●●
987. 237955531 c.13690A>G p.S4564G missense 0.00000839●●●●●●
988. 237955553 c.13712C>T p.T4571M missense 0.00000834●●●●●●
989. 237955558 c.13717C>A p.R4573S missense 0.00000834●●●●●●
990. 237955559 c.13718G>A p.R4573H missense 0.00000834●●●●●●
991. 237957249 c.13865C>T p.S4622L missense 0.00000837●●●●●●
992. 237957259 c.13875T>G p.D4625E missense 0.00000836●●●●●●
993. 237957284 c.13900G>A p.V4634I missense 0.00000836●●●●●●
994. 237957289 c.13905C>G p.I4635M missense 0.00000837●●●●●●
995. 237957291 c.13907A>G p.N4636S missense 0.00000836●●●●●●
996. 237961337 c.13957G>A p.V4653I missense 0.00007794●●●●●●
997. 237961356 c.13976A>G p.E4659G missense 0.00001072●●●●●●
998. 237961365 c.13985G>T p.G4662V missense 0.00001051●●●●●●
999. 237961377 c.13997T>C p.I4666T missense 0.00001023●●●●●●
1000. 237961388 c.14008C>G p.L4670V missense 0.00001011●●●●●●
1001. 237961406 c.14026G>T p.A4676S missense 0.00000990●●●●●●
1002. 237961428 c.14048G>A p.R4683K missense 0.00001928●●●●●●
1003. 237961429 c.14049A>T p.R4683S missense 0.00001925●●●●●●
1004. 237965163 c.14098T>G p.S4700A missense 0.00001675●●●●●●
1005. 237965183 c.14118G>C p.Q4706H missense 0.00000837●●●●●●
1006. 237965199 c.14134G>T p.V4712F missense 0.00000839●●●●●●
1007. 237969438 c.14153C>A p.S4718Y missense 0.00000832●●●●●●
1008. 237969452 c.14167G>A p.A4723T missense 0.00001661●●●●●●
1009. 237969457 c.14172G>C p.W4724C missense 0.00000830●●●●●●
1010. 237969533 c.14248T>C p.F4750L missense 0.00000828●●●●●●
1011. 237969558 c.14273C>T p.S4758F missense 0.00000829●●●●●●
1012. 237972204 c.14302G>A p.V4768I missense 0.00001656●●●●●●
1013. 237972246 c.14344A>G p.T4782A missense 0.00001656●●●●●●
1014. 237972271 c.14369G>A p.R4790Q missense 0.00000828●●●●●●
1015. 237972306 c.14404C>T p.P4802S missense 0.00000828●●●●●●
1016. 237972324 c.14422G>A p.D4808N missense 0.00000828●●●●●●
1017. 237982395 c.14493C>G p.I4831M missense 0.00000829●●●●●●
1018. 237982415 c.14513A>G p.E4838G missense 0.00000828●●●●●●
1019. 237982465 c.14563A>G p.I4855V missense 0.00000828●●●●●●
1020. 237993842 c.14668A>G p.I4890V missense 0.00000828●●●●●●
1021. 237993852 c.14678T>C p.I4893T missense 0.00000828●●●●●●
1022. 237993862 c.14688T>A p.D4896E missense 0.00000828●●●●●●
1023. 237993882 c.14708A>G p.H4903R missense 0.00001657●●●●●●
1024. 237995912 c.14869T>A p.C4957S missense 0.00000847●●●●●●
1025. 237995918 c.14875C>T p.R4959W missense 0.00002551●●●●●●
1026. 237995926 c.14883G>T p.Q4961H missense 0.00000856●●●●●●
1027. 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.