RYR2 protein-altering variants in ExAC


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 frequencyPopulations*
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. 237540664 c.505C>T p.R169X nonsense 0.00000834
27. 237540668 c.509C>G p.S170X nonsense 0.00000833
28. 237540713 c.554G>C p.S185T missense 0.00000836
29. 237540715 c.556G>A p.V186M missense 0.00004184
30. 237550600 c.596G>T p.G199V missense 0.00001656
31. 237550627 c.623A>G p.Q208R missense 0.00000828
32. 237550629 c.625C>G p.Q209E missense 0.00000828
33. 237550633 c.629C>T p.T210I missense 0.00000828
34. 237551395 c.685A>G p.I229V missense 0.00000841
35. 237551429 c.719A>G p.H240R missense 0.00000840
36. 237551431 c.721A>G p.M241V missense 0.00000841
37. 237551438 c.728A>G p.E243G missense 0.00000842
38. 237551447 c.737C>T p.T246I missense 0.00000846
39. 237551452 c.742C>T p.P248S missense 0.00000850
40. 237551479 c.769C>T p.R257W missense 0.00001784
41. 237580350 c.775A>G p.T259A missense 0.00000836
42. 237580351 c.776C>A p.T259N missense 0.00000836
43. 237580363 c.788A>C p.E263A missense 0.00000832
44. 237580371 c.796G>A p.A266T missense 0.00001663
45. 237580371 c.796G>T p.A266S missense 0.00000832
46. 237580375 c.800T>G p.V267G missense 0.00000832
47. 237580383 c.808C>T p.H270Y missense 0.00000832
48. 237580389 c.814C>T p.R272C missense 0.00000832
49. 237580390 c.815G>T p.R272L missense 0.00003328
50. 237580411 c.836C>T p.T279M missense 0.00000836
51. 237580424 c.848+1G>A essential splice site 0.00001688
52. 237586394 c.851G>A p.W284X nonsense 0.00001660
53. 237586408 c.865A>G p.I289V missense 0.00000829
54. 237586422 c.879G>C p.Q293H missense 0.00000828
55. 237586427 c.884T>C p.F295S missense 0.00000828
56. 237586436 c.893G>A p.R298H missense 0.00000828
57. 237586440 c.897T>A p.H299Q missense 0.00000828
58. 237586483 c.940_942delCTT p.Leu316del inframe 0.00000829
59. 237586492 c.949A>G p.M317V missense 0.00000829
60. 237586493 c.950T>C p.M317T missense 0.00003317
61. 237586495 c.952G>A p.D318N missense 0.00000829
62. 237586525 c.982G>A p.A328T missense 0.00001674
63. 237586550 c.1005+2T>C essential splice site 0.00000873
64. 237604637 c.1024G>A p.V342M missense 0.00000829
65. 237604656 c.1043G>A p.G348D missense 0.00002485
66. 237604683 c.1070G>A p.G357D missense 0.00000829
67. 237604691 c.1078G>A p.V360I missense 0.00000829
68. 237604705 c.1092A>C p.Q364H missense 0.00000829
69. 237604728 c.1115T>A p.L372H missense 0.00000830
70. 237604746 c.1133A>C p.D378A missense 0.00000832
71. 237604748 c.1135G>T p.V379L missense 0.00000833
72. 237604757 c.1144G>A p.V382M missense 0.00009186
73. 237604767 c.1154G>C p.G385A missense 0.00000839
74. 237604772 c.1159A>C p.I387L missense 0.00000843
75. 237604775 c.1162C>A p.Q388K missense 0.00000846
76. 237604776 c.1163A>G p.Q388R missense 0.00000848
77. 237604778 c.1165C>T p.R389C missense 0.00003396
78. 237604779 c.1166G>A p.R389H missense 0.00002556
79. 237608702 c.1172C>G p.A391G missense 0.00000829
80. 237608704 c.1174A>G p.I392V missense 0.00001658
81. 237608713 c.1183C>T p.H395Y missense 0.00000829
82. 237608737 c.1207A>G p.I403V missense 0.00000829
83. 237608737 c.1207A>C p.I403L missense 0.00001658
84. 237608747 c.1217C>T p.S406L missense 0.00001658
85. 237608767 c.1237T>C p.S413P missense 0.00000829
86. 237608770 c.1240C>T p.R414C missense 0.00000829
87. 237608779 c.1249C>G p.R417G missense 0.00000829
88. 237608780 c.1250G>A p.R417Q missense 0.00002487
89. 237608788 c.1258C>T p.R420W missense 0.00001658
90. 237608802 c.1272C>G p.F424L missense 0.00002488
91. 237608814 c.1284A>T p.R428S missense 0.00001660
92. 237617702 c.1304C>T p.A435V missense 0.00004181
93. 237617716 c.1318G>A p.A440T missense 0.00000832
94. 237617717 c.1319C>T p.A440V missense 0.00001665
95. 237617717 c.1319C>A p.A440E missense 0.00000832
96. 237617722 c.1324G>T p.A442S missense 0.00002495
97. 237617734 c.1336G>A p.D446N missense 0.00000831
98. 237617743 c.1345A>G p.I449V missense 0.00000831
99. 237617744 c.1346T>G p.I449R missense 0.00000830
100. 237617752 c.1354G>A p.V452I missense 0.00005813
101. 237617756 c.1358G>C p.S453T missense 0.00006642
102. 237617768 c.1370A>G p.Q457R missense 0.00000830
103. 237617777 c.1379T>C p.I460T missense 0.00000830
104. 237617779 c.1381G>T p.G461C missense 0.00000831
105. 237617789 c.1391_1392insC p.Asp467ArgfsTer2 frameshift 0.00000831
106. 237617790 c.1392C>A p.H464Q missense 0.00004988
107. 237617797 c.1399G>A p.D467N missense 0.00001663
108. 237617805 c.1407T>G p.H469Q missense 0.00000832
109. 237617821 c.1423A>C p.K475Q missense 0.00000834
110. 237617822 c.1424A>G p.K475R missense 0.00000835
111. 237617852 c.1454G>A p.R485Q missense 0.00008645
112. 237619915 c.1492G>A p.V498M missense 0.00002504
113. 237619918 c.1495C>T p.L499F missense 0.00000834
114. 237619922 c.1499A>C p.E500A missense 0.00000833
115. 237619931 c.1508A>G p.D503G missense 0.00000832
116. 237619932 c.1509C>A p.D503E missense 0.00000832
117. 237619933 c.1510C>T p.R504C missense 0.00000832
118. 237619957 c.1534G>C p.A512P missense 0.00000830
119. 237619982 c.1559G>A p.R520Q missense 0.00000829
120. 237619984 c.1561G>A p.E521K missense 0.00009123
121. 237619995 c.1572G>C p.E524D missense 0.00000829
122. 237620003 c.1580A>G p.K527R missense 0.00000829
123. 237620009 c.1586T>C p.I529T missense 0.00000829
124. 237620023 c.1600T>C p.Y534H missense 0.00000830
125. 237632395 c.1616C>T p.A539V missense 0.00000832
126. 237632419 c.1640A>C p.N547T missense 0.00000830
127. 237632450 c.1671G>A p.W557X nonsense 0.00000830
128. 237632454 c.1675A>G p.I559V missense 0.00004151
129. 237632457 c.1678A>T p.S560C missense 0.00000830
130. 237632457 c.1678A>G p.S560G missense 0.00000830
131. 237632472 c.1693C>G p.L565V missense 0.00000832
132. 237632478 c.1699G>C p.A567P missense 0.00001667
133. 237632489 c.1708+2T>C essential splice site 0.00000839
134. 237656263 c.1837G>A p.V613I missense 0.00002601
135. 237656270 c.1844G>A p.C615Y missense 0.00002271
136. 237656276 c.1850T>C p.L617P missense 0.00001987
137. 237656290 c.1864G>A p.G622R missense 0.00001463
138. 237656302 c.1876C>T p.R626C missense 0.00002437
139. 237656327 c.1901A>G p.D634G missense 0.00000958
140. 237656353 c.1927T>A p.L643I missense 0.00000885
141. 237656363 c.1937C>T p.T646I missense 0.00000878
142. 237656366 c.1940G>A p.R647H missense 0.00001752
143. 237656377 c.1951C>T p.H651Y missense 0.00001745
144. 237659822 c.1973A>G p.N658S missense 0.00004144
145. 237659825 c.1976T>G p.I659S missense 0.00001657
146. 237659836 c.1987G>A p.V663I missense 0.00004142
147. 237659858 c.2009A>G p.Y670C missense 0.00000828
148. 237659873 c.2024A>G p.Y675C missense 0.00001656
149. 237659878 c.2029T>A p.L677M missense 0.00000828
150. 237659888 c.2039A>G p.D680G missense 0.00001656
151. 237659894 c.2045C>G p.T682R missense 0.00003312
152. 237659897 c.2048A>C p.E683A missense 0.00001656
153. 237659930 c.2081G>A p.R694Q missense 0.00000828
154. 237659950 c.2101G>C p.E701Q missense 0.00000828
155. 237659953 c.2104G>A p.G702R missense 0.00004140
156. 237659972 c.2123G>C p.G708A missense 0.00000828
157. 237659974 c.2125G>T p.G709W missense 0.00000828
158. 237660012 c.2163T>A p.D721E missense 0.00000828
159. 237660023 c.2174A>G p.Y725C missense 0.00001659
160. 237660037 c.2188C>T p.L730F missense 0.00002495
161. 237664020 c.2213C>G p.A738G missense 0.00000850
162. 237664025 c.2218A>G p.T740A missense 0.00000842
163. 237664028 c.2221G>T p.V741L missense 0.00000839
164. 237664029 c.2222T>C p.V741A missense 0.00000838
165. 237664033 c.2226C>G p.S742R missense 0.00001672
166. 237664049 c.2242C>A p.L748M missense 0.00000830
167. 237664067 c.2260G>T p.V754F missense 0.00000829
168. 237664080 c.2273G>C p.C758S missense 0.00000828
169. 237664082 c.2275T>A p.L759I missense 0.00004142
170. 237664101 c.2294G>A p.S765N missense 0.00001656
171. 237664107 c.2300C>T p.S767L missense 0.00000828
172. 237664109 c.2302T>G p.F768V missense 0.00000828
173. 237664113 c.2306G>A p.R769Q missense 0.00000828
174. 237664127 c.2320C>A p.P774T missense 0.00000828
175. 237664130 c.2323G>A p.V775I missense 0.00000828
176. 237664141 c.2334G>C p.M778I missense 0.00000828
177. 237664155 c.2348A>G p.N783S missense 0.00002484
178. 237664160 c.2353G>A p.D785N missense 0.00000828
179. 237664164 c.2357G>A p.G786D missense 0.00000828
180. 237664171 c.2364C>A p.F788L missense 0.00002484
181. 237664181 c.2374G>A p.V792I missense 0.00000828
182. 237664196 c.2389G>A p.G797R missense 0.00005801
183. 237664201 c.2394A>G p.I798M missense 0.00001658
184. 237666594 c.2402G>T p.R801L missense 0.00005509
185. 237666609 c.2417G>A p.G806E missense 0.00001338
186. 237666611 c.2419C>T p.R807X nonsense 0.00001292
187. 237666612 c.2420G>A p.R807Q missense 0.00002475
188. 237666615 c.2423A>G p.H808R missense 0.00001141
189. 237666627 c.2435A>G p.K812R missense 0.00000987
190. 237666629 c.2437T>G p.F813V missense 0.00000970
191. 237666635 c.2443C>T p.P815S missense 0.00001842
192. 237666641 c.2449C>G p.P817A missense 0.00004403
193. 237666642 c.2450C>T p.P817L missense 0.00000876
194. 237666651 c.2459C>G p.A820G missense 0.00000848
195. 237666656 c.2464T>G p.C822G missense 0.00000841
196. 237666657 c.2465G>A p.C822Y missense 0.00000839
197. 237666675 c.2483C>A p.P828Q missense 0.00000830
198. 237666698 c.2506C>A p.H836N missense 0.00000828
199. 237666705 c.2513G>A p.R838Q missense 0.00000828
200. 237666734 c.2542C>T p.R848C missense 0.00000828
201. 237666737 c.2545G>A p.D849N missense 0.00002485
202. 237666739 c.2547C>A p.D849E missense 0.00000828
203. 237666749 c.2557C>T p.P853S missense 0.00000828
204. 237666758 c.2566T>C p.S856P missense 0.00002485
205. 237666762 c.2570T>A p.L857Q missense 0.00000828
206. 237666765 c.2573C>T p.T858M missense 0.00004142
207. 237670011 c.2615T>C p.I872T missense 0.00004932
208. 237670013 c.2617G>A p.V873M missense 0.00001915
209. 237670023 c.2627C>T p.P876L missense 0.00001807
210. 237670031 c.2635G>C p.E879Q missense 0.00000884
211. 237670037 c.2641A>G p.I881V missense 0.00000873
212. 237670038 c.2642T>G p.I881R missense 0.00006953
213. 237670038 c.2642T>A p.I881K missense 0.00003476
214. 237670041 c.2645G>A p.R882K missense 0.00000864
215. 237670046 c.2650A>G p.K884E missense 0.00000857
216. 237670052 c.2656G>C p.A886P missense 0.00000851
217. 237670055 c.2659G>A p.E887K missense 0.00000849
218. 237670062 c.2666T>C p.I889T missense 0.00001693
219. 237670094 c.2698C>T p.L900F missense 0.00001700
220. 237670112 c.2716C>G p.P906A missense 0.00001723
221. 237670113 c.2717C>T p.P906L missense 0.00001726
222. 237675030 c.2761T>A p.F921I missense 0.00003076
223. 237693737 c.2833G>T p.A945S missense 0.00001476
224. 237693755 c.2851G>A p.G951S missense 0.00001349
225. 237693765 c.2861A>G p.D954G missense 0.00001351
226. 237693767 c.2863G>A p.E955K missense 0.00001371
227. 237711733 c.2909A>G p.Y970C missense 0.00004380
228. 237711742 c.2918C>G p.T973R missense 0.00000862
229. 237711756 c.2932C>G p.P978A missense 0.00000850
230. 237711765 c.2941A>G p.M981V missense 0.00000846
231. 237711775 c.2951G>A p.S984N missense 0.00000841
232. 237711796 c.2972C>T p.S991L missense 0.00000837
233. 237711802 c.2978A>G p.E993G missense 0.00000829
234. 237711818 c.2994G>T p.K998N missense 0.00000829
235. 237711822 c.2998G>T p.A1000S missense 0.00000830
236. 237711835 c.3011A>C p.H1004P missense 0.00000830
237. 237711837 c.3013A>G p.N1005D missense 0.00000830
238. 237711849 c.3025C>T p.R1009W missense 0.00005810
239. 237711850 c.3026G>A p.R1009Q missense 0.00002490
240. 237711852 c.3028G>T p.D1010Y missense 0.00000830
241. 237711852 c.3028G>A p.D1010N missense 0.00000830
242. 237711861 c.3037C>T p.R1013W missense 0.00000831
243. 237711862 c.3038G>T p.R1013L missense 0.00000831
244. 237711864 c.3040C>T p.Q1014X nonsense 0.00000831
245. 237711879 c.3055G>A p.G1019S missense 0.00001668
246. 237711889 c.3065A>G p.Q1022R missense 0.00000837
247. 237713848 c.3071T>C p.V1024A missense 0.00001315
248. 237713851 c.3074A>G p.K1025R missense 0.00001313
249. 237713869 c.3092G>A p.R1031H missense 0.00001333
250. 237713883 c.3106A>T p.T1036S missense 0.00001410
251. 237713884 c.3107C>G p.T1036S missense 0.00001408
252. 237713886 c.3109C>G p.L1037V missense 0.00001431
253. 237713893 c.3116A>T p.D1039V missense 0.00002987
254. 237713899 c.3122G>A p.R1041Q missense 0.00001554
255. 237713914 c.3137A>G p.N1046S missense 0.00001706
256. 237713929 c.3152G>A p.R1051H missense 0.00008803
257. 237713940 c.3163C>T p.R1055C missense 0.00002481
258. 237713941 c.3164G>A p.R1055H missense 0.00002566
259. 237713944 c.3167C>T p.T1056M missense 0.00002620
260. 237713946 c.3169C>A p.L1057M missense 0.00002678
261. 237713953 c.3176G>A p.G1059E missense 0.00002965
262. 237729870 c.3218C>A p.A1073D missense 0.00000856
263. 237729878 c.3226G>A p.E1076K missense 0.00003359
264. 237729890 c.3238G>A p.G1080S missense 0.00002497
265. 237729896 c.3244G>A p.G1082R missense 0.00000831
266. 237729908 c.3256C>T p.R1086X nonsense 0.00000829
267. 237729918 c.3266G>A p.R1089H missense 0.00000828
268. 237729924 c.3272_3274delAGA p.Lys1092del inframe 0.00000828
269. 237729939 c.3287T>C p.V1096A missense 0.00000828
270. 237729947 c.3295G>A p.G1099R missense 0.00003312
271. 237729947 c.3295G>C p.G1099R missense 0.00000828
272. 237729951 c.3299G>A p.R1100Q missense 0.00003312
273. 237729984 c.3332G>C p.G1111A missense 0.00000828
274. 237730013 c.3361G>C p.G1121R missense 0.00001656
275. 237730013 c.3361G>A p.G1121S missense 0.00000828
276. 237730023 c.3371C>T p.P1124L missense 0.00001656
277. 237730049 c.3397C>T p.R1133C missense 0.00001656
278. 237730050 c.3398G>A p.R1133H missense 0.00006625
279. 237732452 c.3431G>A p.R1144Q missense 0.00001670
280. 237732470 c.3449A>G p.E1150G missense 0.00000830
281. 237732481 c.3460C>T p.R1154C missense 0.00000830
282. 237732502 c.3481G>C p.V1161L missense 0.00002489
283. 237732502 c.3481G>T p.V1161F missense 0.00001659
284. 237732524 c.3503T>C p.M1168T missense 0.00000831
285. 237732529 c.3508G>A p.E1170K missense 0.00000832
286. 237732533 c.3512A>G p.H1171R missense 0.00000832
287. 237732535 c.3514A>T p.T1172S missense 0.00000833
288. 237732536 c.3515C>T p.T1172I missense 0.00000833
289. 237732538 c.3517A>G p.M1173V missense 0.00000833
290. 237732587 c.3566A>G p.E1189G missense 0.00000854
291. 237732617 c.3596A>G p.D1199G missense 0.00000932
292. 237753116 c.3622G>A p.G1208R missense 0.00001664
293. 237753132 c.3638G>C p.G1213A missense 0.00000830
294. 237753135 c.3641G>A p.R1214K missense 0.00000830
295. 237753165 c.3671T>C p.L1224S missense 0.00000829
296. 237753171 c.3677A>G p.Y1226C missense 0.00000829
297. 237753190 c.3696A>T p.L1232F missense 0.00000829
298. 237753198 c.3704G>A p.G1235D missense 0.00000829
299. 237753232 c.3738T>A p.D1246E missense 0.00000830
300. 237753250 c.3756C>G p.S1252R missense 0.00000833
301. 237753254 c.3760A>G p.R1254G missense 0.00000835
302. 237753260 c.3766C>A p.P1256T missense 0.00001672
303. 237753261 c.3767C>T p.P1256L missense 0.00001673
304. 237753275 c.3781G>T p.V1261F missense 0.00000845
305. 237753294 c.3800A>T p.H1267L missense 0.00000890
306. 237753296 c.3802A>G p.I1268V missense 0.00000899
307. 237753299 c.3805G>C p.E1269Q missense 0.00000910
308. 237753955 c.3823G>A p.G1275S missense 0.00000908
309. 237753959 c.3827C>T p.T1276I missense 0.00001816
310. 237753961 c.3829A>G p.I1277V missense 0.00000907
311. 237753968 c.3836G>C p.S1279T missense 0.00000906
312. 237753971 c.3839C>G p.S1280C missense 0.00000906
313. 237753971 c.3839C>T p.S1280F missense 0.00001812
314. 237754015 c.3883A>G p.S1295G missense 0.00006095
315. 237754018 c.3886A>G p.N1296D missense 0.00000865
316. 237754020 c.3888C>A p.N1296K missense 0.00000862
317. 237754022 c.3890C>A p.T1297N missense 0.00001716
318. 237754028 c.3896T>C p.I1299T missense 0.00001701
319. 237754028 c.3896T>G p.I1299S missense 0.00000850
320. 237754029 c.3897C>G p.I1299M missense 0.00001698
321. 237754030 c.3898A>C p.M1300L missense 0.00000847
322. 237754031 c.3899T>C p.M1300T missense 0.00000847
323. 237754032 c.3900G>A p.M1300I missense 0.00000845
324. 237754034 c.3902T>G p.F1301C missense 0.00000843
325. 237754039 c.3907C>T p.R1303C missense 0.00000839
326. 237754048 c.3916A>G p.M1306V missense 0.00000831
327. 237754063 c.3931G>A p.A1311T missense 0.00001657
328. 237754064 c.3932C>T p.A1311V missense 0.00000829
329. 237754082 c.3950C>T p.T1317M missense 0.00001656
330. 237754087 c.3955G>A p.A1319T missense 0.00001656
331. 237754103 c.3971G>C p.G1324A missense 0.00000828
332. 237754117 c.3985G>A p.G1329R missense 0.00001657
333. 237754121 c.3989C>G p.P1330R missense 0.00000828
334. 237754123 c.3991A>C p.K1331Q missense 0.00000828
335. 237754129 c.3997G>A p.D1333N missense 0.00000828
336. 237754135 c.4003G>A p.E1335K missense 0.00000828
337. 237754142 c.4010A>G p.Y1337C missense 0.00001657
338. 237754150 c.4018G>C p.D1340H missense 0.00000829
339. 237754181 c.4049C>T p.A1350V missense 0.00000829
340. 237754201 c.4069G>C p.D1357H missense 0.00006633
341. 237754201 c.4069G>A p.D1357N missense 0.00002487
342. 237754204 c.4072C>T p.R1358C missense 0.00000829
343. 237754211 c.4079A>G p.D1360G missense 0.00000829
344. 237754228 c.4096A>G p.T1366A missense 0.00004151
345. 237754229 c.4097C>A p.T1366N missense 0.00002491
346. 237754247 c.4115A>G p.N1372S missense 0.00000832
347. 237754277 c.4145C>G p.S1382C missense 0.00002595
348. 237754280 c.4148G>A p.R1383H missense 0.00000875
349. 237755056 c.4178delC p.Thr1393LysfsTer28 frameshift 0.00004822
350. 237755067 c.4189T>A p.Y1397N missense 0.00005619
351. 237755119 c.4241G>A p.R1414Q missense 0.00005403
352. 237755128 c.4250A>G p.Y1417C missense 0.00000919
353. 237755139 c.4261A>G p.M1421V missense 0.00000956
354. 237755141 c.4263G>A p.M1421I missense 0.00000965
355. 237755146 c.4268C>T p.T1423M missense 0.00000990
356. 237755151 c.4273A>G p.T1425A missense 0.00006081
357. 237755152 c.4274C>T p.T1425M missense 0.00001021
358. 237756794 c.4294A>C p.I1432L missense 0.00000830
359. 237756813 c.4313C>A p.P1438H missense 0.00001658
360. 237756821 c.4321G>A p.V1441I missense 0.00001658
361. 237756840 c.4340C>T p.T1447I missense 0.00000829
362. 237756861 c.4361A>G p.D1454G missense 0.00000829
363. 237756884 c.4384G>A p.V1462I missense 0.00000829
364. 237756887 c.4387C>T p.R1463C missense 0.00001658
365. 237756888 c.4388G>A p.R1463H missense 0.00004975
366. 237756893 c.4393G>A p.V1465I missense 0.00001658
367. 237756897 c.4397C>T p.T1466I missense 0.00000829
368. 237756934 c.4434A>C p.E1478D missense 0.00000835
369. 237758805 c.4444C>T p.R1482C missense 0.00001662
370. 237758850 c.4489G>A p.G1497R missense 0.00001659
371. 237758853 c.4492C>G p.Q1498E missense 0.00001659
372. 237758859 c.4498C>T p.R1500C missense 0.00001659
373. 237758860 c.4499G>A p.R1500H missense 0.00001660
374. 237758865 c.4504A>G p.N1502D missense 0.00000830
375. 237758902 c.4541C>T p.A1514V missense 0.00000832
376. 237758938 c.4577A>T p.E1526V missense 0.00000837
377. 237758946 c.4585A>C p.T1529P missense 0.00000839
378. 237765349 c.4621C>T p.P1541S missense 0.00000854
379. 237765405 c.4677A>T p.R1559S missense 0.00000934
380. 237765407 c.4679T>C p.I1560T missense 0.00000934
381. 237774070 c.4692G>A p.M1564I missense 0.00008584
382. 237774078 c.4700C>T p.S1567L missense 0.00001593
383. 237774092 c.4714A>G p.K1572E missense 0.00001314
384. 237774096 c.4718G>A p.S1573N missense 0.00001261
385. 237774110 c.4732C>T p.P1578S missense 0.00001137
386. 237774111 c.4733C>G p.P1578R missense 0.00003389
387. 237774113 c.4735G>A p.V1579M missense 0.00006690
388. 237774114 c.4736T>A p.V1579E missense 0.00002215
389. 237774114 c.4736T>C p.V1579A missense 0.00002215
390. 237774117 c.4739C>T p.P1580L missense 0.00001090
391. 237774117 c.4739C>A p.P1580Q missense 0.00001090
392. 237774123 c.4745_4746insC p.Arg1585AlafsTer29 frameshift 0.00003192
393. 237774124 c.4746C>G p.C1582W missense 0.00002124
394. 237774128 c.4750C>T p.P1584S missense 0.00001033
395. 237774129 c.4751C>T p.P1584L missense 0.00001032
396. 237774131 c.4753C>T p.R1585C missense 0.00001019
397. 237774147 c.4769T>A p.F1590Y missense 0.00000956
398. 237774164 c.4786T>A p.W1596R missense 0.00000934
399. 237774165 c.4787G>A p.W1596X nonsense 0.00000933
400. 237774176 c.4798C>T p.P1600S missense 0.00000922
401. 237774177 c.4799C>T p.P1600L missense 0.00000920
402. 237774181 c.4803C>G p.N1601K missense 0.00000917
403. 237774207 c.4829G>A p.R1610Q missense 0.00001810
404. 237774209 c.4831A>G p.I1611V missense 0.00000903
405. 237774218 c.4840C>A p.R1614S missense 0.00000901
406. 237774218 c.4840C>T p.R1614C missense 0.00005407
407. 237774219 c.4841G>A p.R1614H missense 0.00001803
408. 237774229 c.4851G>T p.W1617C missense 0.00000903
409. 237774231 c.4853T>C p.L1618S missense 0.00000904
410. 237774252 c.4874T>G p.L1625R missense 0.00001873
411. 237774260 c.4882A>G p.M1628V missense 0.00001933
412. 237774274 c.4896C>G p.I1632M missense 0.00001027
413. 237777378 c.4950G>C p.L1650F missense 0.00000832
414. 237777386 c.4958T>G p.F1653C missense 0.00000831
415. 237777400 c.4972C>T p.L1658F missense 0.00003321
416. 237777400 c.4972C>G p.L1658V missense 0.00000830
417. 237777418 c.4990G>A p.V1664I missense 0.00002488
418. 237777418 c.4990G>T p.V1664F missense 0.00000829
419. 237777434 c.5006A>G p.N1669S missense 0.00001658
420. 237777439 c.5011C>T p.R1671W missense 0.00000829
421. 237777440 c.5012G>A p.R1671Q missense 0.00000829
422. 237777449 c.5021A>G p.H1674R missense 0.00001658
423. 237777474 c.5046A>C p.E1682D missense 0.00002486
424. 237777484 c.5056C>T p.L1686F missense 0.00003315
425. 237777488 c.5060A>C p.Y1687S missense 0.00000829
426. 237777494 c.5066T>C p.I1689T missense 0.00000829
427. 237777524 c.5096G>A p.R1699H missense 0.00001657
428. 237777530 c.5102G>C p.G1701A missense 0.00000829
429. 237777541 c.5113C>G p.L1705V missense 0.00000829
430. 237777553 c.5125A>C p.I1709L missense 0.00000829
431. 237777574 c.5146A>T p.T1716S missense 0.00000829
432. 237777577 c.5149G>T p.A1717S missense 0.00001658
433. 237777582 c.5154G>C p.R1718S missense 0.00000829
434. 237777582 c.5154G>T p.R1718S missense 0.00000829
435. 237777583 c.5155C>T p.L1719F missense 0.00000829
436. 237777586 c.5158A>G p.M1720V missense 0.00000829
437. 237777604 c.5176A>G p.I1726V missense 0.00000829
438. 237777617 c.5189C>T p.T1730M missense 0.00001659
439. 237777626 c.5198C>T p.T1733M missense 0.00002488
440. 237777635 c.5207T>G p.I1736S missense 0.00000829
441. 237777653 c.5225A>G p.E1742G missense 0.00000829
442. 237777663 c.5235_5236delAC p.His1746ArgfsTer26 frameshift 0.00000829
443. 237777682 c.5254G>A p.G1752S missense 0.00003315
444. 237777689 c.5261G>C p.S1754T missense 0.00000829
445. 237777706 c.5278C>T p.R1760W missense 0.00001657
446. 237777706 c.5278C>G p.R1760G missense 0.00000828
447. 237777707 c.5279G>A p.R1760Q missense 0.00000828
448. 237777713 c.5285A>C p.Q1762P missense 0.00000828
449. 237777722 c.5294C>T p.S1765F missense 0.00004141
450. 237777727 c.5299A>G p.S1767G missense 0.00000828
451. 237777730 c.5302T>C p.F1768L missense 0.00000828
452. 237777733 c.5305G>T p.V1769L missense 0.00000828
453. 237777764 c.5336G>A p.S1779N missense 0.00000828
454. 237777785 c.5357T>C p.I1786T missense 0.00000828
455. 237777791 c.5363A>C p.K1788T missense 0.00001657
456. 237777811 c.5383C>A p.L1795M missense 0.00000829
457. 237777815 c.5387C>T p.T1796I missense 0.00000829
458. 237777832 c.5404G>A p.G1802S missense 0.00000829
459. 237777835 c.5407A>T p.S1803C missense 0.00000829
460. 237777836 c.5408G>T p.S1803I missense 0.00000829
461. 237777838 c.5410C>T p.L1804F missense 0.00000829
462. 237777842 c.5414A>G p.H1805R missense 0.00000829
463. 237777844 c.5416G>A p.A1806T missense 0.00000829
464. 237777847 c.5419C>T p.R1807W missense 0.00001659
465. 237777848 c.5420G>A p.R1807Q missense 0.00002488
466. 237777850 c.5422G>T p.D1808Y missense 0.00000830
467. 237777856 c.5428G>C p.V1810L missense 0.00008297
468. 237777877 c.5449C>G p.L1817V missense 0.00000830
469. 237777902 c.5474T>C p.F1825S missense 0.00001661
470. 237777916 c.5488A>G p.I1830V missense 0.00000831
471. 237777922 c.5494G>A p.G1832S missense 0.00003324
472. 237777937 c.5509G>A p.E1837K missense 0.00003324
473. 237777941 c.5513A>G p.D1838G missense 0.00000831
474. 237777963 c.5535G>T p.L1845F missense 0.00000831
475. 237777970 c.5542C>T p.P1848S missense 0.00000832
476. 237777998 c.5570C>T p.P1857L missense 0.00004999
477. 237778001 c.5573A>T p.E1858V missense 0.00001667
478. 237778001 c.5573A>G p.E1858G missense 0.00000833
479. 237778003 c.5575G>A p.E1859K missense 0.00000833
480. 237778016 c.5588C>T p.T1863M missense 0.00003336
481. 237778021 c.5593G>A p.E1865K missense 0.00002503
482. 237778027 c.5599G>T p.Glu1867Ter nonsense 0.00000835
483. 237778028 c.5600A>T p.E1867V missense 0.00000835
484. 237778028 c.5600A>C p.E1867A missense 0.00002504
485. 237778030 c.5602C>A p.L1868I missense 0.00001670
486. 237778069 c.5641G>A p.E1881K missense 0.00000845
487. 237778073 c.5645A>G p.E1882G missense 0.00001695
488. 237778082 c.5654G>C p.G1885A missense 0.00000859
489. 237778111 c.5683C>A p.Q1895K missense 0.00000892
490. 237780587 c.5717T>C p.M1906T missense 0.00003954
491. 237780620 c.5750A>G p.Q1917R missense 0.00001863
492. 237780625 c.5755C>T p.R1919W missense 0.00000913
493. 237780631 c.5761C>T p.R1921W missense 0.00000889
494. 237780632 c.5762G>A p.R1921Q missense 0.00003537
495. 237780641 c.5771C>G p.A1924G missense 0.00000863
496. 237780644 c.5774T>C p.I1925T missense 0.00003432
497. 237780663 c.5793T>G p.D1931E missense 0.00006698
498. 237780671 c.5801C>T p.A1934V missense 0.00001668
499. 237780691 c.5821C>T p.R1941C missense 0.00002491
500. 237780691 c.5821C>A p.R1941S missense 0.00000830
501. 237780692 c.5822G>A p.R1941H missense 0.00002491
502. 237780694 c.5824T>C p.F1942L missense 0.00000830
503. 237780695 c.5825T>G p.F1942C missense 0.00003320
504. 237780733 c.5863G>T p.A1955S missense 0.00000831
505. 237780752 c.5882A>C p.K1961T missense 0.00000832
506. 237787065 c.5917A>G p.I1973V missense 0.00002518
507. 237787071 c.5923A>G p.M1975V missense 0.00007522
508. 237787081 c.5933A>G p.N1978S missense 0.00003330
509. 237787092 c.5944G>C p.D1982H missense 0.00000831
510. 237787120 c.5972A>G p.E1991G missense 0.00001660
511. 237787125 c.5977C>T p.R1993C missense 0.00001660
512. 237787126 c.5978G>A p.R1993H missense 0.00001659
513. 237787148 c.6000T>G p.H2000Q missense 0.00000831
514. 237787161 c.6013A>G p.T2005A missense 0.00000835
515. 237788990 c.6052G>A p.D2018N missense 0.00001657
516. 237788994 c.6056G>A p.G2019E missense 0.00000828
517. 237789015 c.6077G>C p.R2026T missense 0.00000828
518. 237789030 c.6092C>T p.S2031F missense 0.00000829
519. 237789043 c.6105G>C p.K2035N missense 0.00000830
520. 237789053 c.6115C>A p.L2039M missense 0.00002494
521. 237789062 c.6124A>C p.K2042Q missense 0.00000835
522. 237789088 c.6150T>G p.S2050R missense 0.00000856
523. 237789091 c.6153C>G p.D2051E missense 0.00001720
524. 237789096 c.6158A>G p.K2053R missense 0.00000868
525. 237789101 c.6163T>C p.S2055P missense 0.00000876
526. 237791125 c.6185T>C p.I2062T missense 0.00001275
527. 237791139 c.6199G>A p.V2067I missense 0.00001126
528. 237791160 c.6220G>T p.V2074F missense 0.00000958
529. 237791164 c.6224T>C p.I2075T missense 0.00000939
530. 237791172 c.6232C>T p.P2078S missense 0.00002723
531. 237791175 c.6235G>A p.E2079K missense 0.00000890
532. 237791185 c.6245G>A p.R2082K missense 0.00000857
533. 237791194 c.6254T>C p.F2085S missense 0.00000843
534. 237791219 c.6279C>A p.D2093E missense 0.00000833
535. 237791220 c.6280G>A p.G2094S missense 0.00004161
536. 237791224 c.6284T>C p.I2095T missense 0.00002495
537. 237791235 c.6295G>A p.V2099I missense 0.00000831
538. 237791238 c.6298C>T p.R2100W missense 0.00001662
539. 237791260 c.6320C>T p.T2107M missense 0.00004983
540. 237791272 c.6332T>C p.V2111A missense 0.00000831
541. 237791280 c.6340G>C p.E2114Q missense 0.00000831
542. 237791286 c.6346A>G p.T2116A missense 0.00004156
543. 237791296 c.6356T>C p.L2119P missense 0.00000831
544. 237791319 c.6379C>G p.R2127G missense 0.00000833
545. 237791370 c.6430C>T p.R2144C missense 0.00000838
546. 237791376 c.6436T>G p.L2146V missense 0.00000842
547. 237794731 c.6445A>G p.I2149V missense 0.00001946
548. 237794741 c.6455A>G p.N2152S missense 0.00000912
549. 237794805 c.6519G>T p.E2173D missense 0.00000847
550. 237796884 c.6562A>C p.T2188P missense 0.00000828
551. 237796885 c.6563C>G p.T2188S missense 0.00000828
552. 237796978 c.6656G>A p.S2219N missense 0.00000829
553. 237796993 c.6671A>C p.N2224T missense 0.00000830
554. 237798198 c.6698C>G p.A2233G missense 0.00001584
555. 237798272 c.6772C>T p.R2258C missense 0.00003041
556. 237798279 c.6779C>T p.P2260L missense 0.00001592
557. 237798284 c.6784C>G p.L2262V missense 0.00001640
558. 237801663 c.6799C>T p.R2267C missense 0.00001657
559. 237801664 c.6800G>A p.R2267H missense 0.00003313
560. 237801675 c.6811G>T p.G2271C missense 0.00001656
561. 237801675 c.6811G>A p.G2271S missense 0.00000828
562. 237801727 c.6863T>C p.I2288T missense 0.00000828
563. 237801748 c.6884G>A p.G2295E missense 0.00000828
564. 237801787 c.6923G>C p.C2308S missense 0.00000828
565. 237802347 c.6961G>T p.V2321L missense 0.00000835
566. 237802363 c.6977G>A p.R2326Q missense 0.00000834
567. 237802380 c.6994G>T p.G2332C missense 0.00000833
568. 237802383 c.6997C>A p.P2333T missense 0.00000833
569. 237802398 c.7012G>C p.E2338Q missense 0.00000833
570. 237802419 c.7033G>A p.A2345T missense 0.00000834
571. 237802425 c.7039A>G p.M2347V missense 0.00000834
572. 237802446 c.7060G>A p.A2354T missense 0.00006692
573. 237802446 c.7060G>T p.A2354S missense 0.00000836
574. 237802449 c.7063G>A p.E2355K missense 0.00000837
575. 237802461 c.7075C>T p.Arg2359Ter nonsense 0.00000839
576. 237802462 c.7076G>A p.R2359Q missense 0.00005874
577. 237802464 c.7078G>A p.D2360N missense 0.00000840
578. 237802477 c.7091C>G p.P2364R missense 0.00001695
579. 237802480 c.7094A>G p.N2365S missense 0.00001698
580. 237802494 c.7108A>G p.K2370E missense 0.00000864
581. 237802497 c.7111A>G p.T2371A missense 0.00000867
582. 237802500 c.7114C>A p.L2372I missense 0.00000870
583. 237802500 c.7114C>T p.L2372F missense 0.00000870
584. 237804198 c.7117G>T p.D2373Y missense 0.00002100
585. 237804199 c.7118A>G p.D2373G missense 0.00001041
586. 237804204 c.7123G>A p.E2375K missense 0.00000997
587. 237804246 c.7165A>C p.M2389L missense 0.00000889
588. 237804256 c.7175A>G p.Y2392C missense 0.00000889
589. 237804264 c.7183T>A p.L2395M missense 0.00000897
590. 237806637 c.7232C>G p.A2411G missense 0.00001656
591. 237806639 c.7234G>A p.G2412R missense 0.00004141
592. 237806687 c.7282C>T p.P2428S missense 0.00000828
593. 237806687 c.7282C>G p.P2428A missense 0.00000828
594. 237806702 c.7297G>T p.V2433L missense 0.00001656
595. 237806708 c.7303G>T p.V2435F missense 0.00001656
596. 237806717 c.7312A>C p.I2438L missense 0.00000828
597. 237806720 c.7315G>A p.A2439T missense 0.00001656
598. 237811752 c.7351G>A p.V2451M missense 0.00001280
599. 237811755 c.7354G>A p.V2452M missense 0.00002511
600. 237811774 c.7373C>T p.A2458V missense 0.00001153
601. 237811783 c.7382G>T p.C2461F missense 0.00001120
602. 237811803 c.7402A>G p.M2468V missense 0.00001087
603. 237811839 c.7438G>T p.V2480F missense 0.00001067
604. 237811854 c.7453C>T p.L2485F missense 0.00001069
605. 237811859 c.7458T>G p.H2486Q missense 0.00001069
606. 237811860 c.7459C>A p.L2487I missense 0.00005355
607. 237811876 c.7475T>C p.F2492S missense 0.00001096
608. 237811893 c.7492G>A p.A2498T missense 0.00001152
609. 237811902 c.7501T>G p.S2501A missense 0.00001182
610. 237811912 c.7511C>T p.T2504M missense 0.00008563
611. 237813192 c.7528A>G p.T2510A missense 0.00002488
612. 237813193 c.7529C>T p.T2510I missense 0.00000829
613. 237813195 c.7531G>A p.D2511N missense 0.00000829
614. 237813199 c.7535T>C p.M2512T missense 0.00000829
615. 237813210 c.7546C>T p.L2516F missense 0.00000828
616. 237813216 c.7552C>T p.R2518W missense 0.00000828
617. 237813223 c.7559T>C p.L2520P missense 0.00000828
618. 237813228 c.7564A>C p.T2522P missense 0.00000828
619. 237813238 c.7574T>C p.L2525S missense 0.00000828
620. 237813276 c.7612A>G p.T2538A missense 0.00000828
621. 237813285 c.7621C>A p.H2541N missense 0.00002484
622. 237813288 c.7624G>T p.A2542S missense 0.00002484
623. 237813288 c.7624G>A p.A2542T missense 0.00003312
624. 237813292 c.7628C>T p.S2543F missense 0.00000828
625. 237813298 c.7634T>C p.I2545T missense 0.00000828
626. 237813318 c.7654G>A p.V2552M missense 0.00000828
627. 237813355 c.7691C>T p.A2564V missense 0.00000828
628. 237813360 c.7696C>T p.R2566W missense 0.00001656
629. 237813361 c.7697G>T p.R2566L missense 0.00000828
630. 237813361 c.7697G>C p.R2566P missense 0.00000828
631. 237813361 c.7697G>A p.R2566Q missense 0.00000828
632. 237813363 c.7699G>T p.D2567Y missense 0.00000828
633. 237813363 c.7699G>A p.D2567N missense 0.00000828
634. 237813370 c.7706T>C p.I2569T missense 0.00000828
635. 237813372 c.7708G>A p.E2570K missense 0.00002484
636. 237813378 c.7714T>G p.C2572G missense 0.00000828
637. 237814721 c.7744C>A p.P2582T missense 0.00002231
638. 237814727 c.7750A>G p.M2584V missense 0.00004279
639. 237814728 c.7751T>A p.M2584K missense 0.00002130
640. 237814751 c.7774T>G p.L2592V missense 0.00002002
641. 237814775 c.7798A>G p.N2600D missense 0.00002040
642. 237814777 c.7800T>A p.N2600K missense 0.00002045
643. 237814785 c.7808C>G p.A2603G missense 0.00002311
644. 237814785 c.7808C>T p.A2603V missense 0.00002311
645. 237817640 c.7891G>T p.G2631C missense 0.00000829
646. 237817665 c.7916A>G p.H2639R missense 0.00000832
647. 237817674 c.7925G>A p.R2642K missense 0.00008334
648. 237817678 c.7929G>C p.K2643N missense 0.00000835
649. 237817683 c.7934T>G p.F2645C missense 0.00000837
650. 237817685 c.7936T>A p.W2646R missense 0.00000838
651. 237817689 c.7940G>A p.G2647D missense 0.00000839
652. 237817704 c.7955T>C p.L2652P missense 0.00000849
653. 237819148 c.7993G>A p.A2665T missense 0.00001412
654. 237819151 c.7996C>G p.L2666V missense 0.00001371
655. 237819152 c.7997T>A p.L2666Q missense 0.00004076
656. 237819179 c.8024C>G p.A2675G missense 0.00001158
657. 237819193 c.8038T>C p.Y2680H missense 0.00001076
658. 237819196 c.8041A>T p.M2681L missense 0.00001057
659. 237819203 c.8048C>T p.S2683L missense 0.00001020
660. 237819215 c.8060G>A p.S2687N missense 0.00002900
661. 237819251 c.8096G>A p.G2699E missense 0.00000895
662. 237819262 c.8107C>A p.P2703T missense 0.00001791
663. 237821259 c.8145G>T p.E2715D missense 0.00004472
664. 237821261 c.8147A>T p.K2716I missense 0.00004467
665. 237821272 c.8158T>C p.F2720L missense 0.00004430
666. 237823304 c.8228A>G p.Y2743C missense 0.00002860
667. 237823324 c.8248T>A p.S2750T missense 0.00003709
668. 237823338 c.8262G>C p.Q2754H missense 0.00003708
669. 237823345 c.8269A>G p.M2757V missense 0.00002814
670. 237824125 c.8314C>T p.R2772C missense 0.00004557
671. 237824153 c.8342C>T p.T2781I missense 0.00004510
672. 237824189 c.8378G>A p.R2793Q missense 0.00004512
673. 237824218 c.8407C>T p.R2803W missense 0.00009179
674. 237824219 c.8408G>A p.R2803Q missense 0.00004589
675. 237824245 c.8434C>G p.Q2812E missense 0.00004746
676. 237829818 c.8443G>A p.V2815M missense 0.00002103
677. 237829825 c.8450C>T p.A2817V missense 0.00005021
678. 237829830 c.8455C>T p.H2819Y missense 0.00001968
679. 237829852 c.8477T>C p.I2826T missense 0.00000965
680. 237829861 c.8486G>A p.S2829N missense 0.00000978
681. 237829881 c.8506G>A p.D2836N missense 0.00001070
682. 237829883 c.8508C>A p.D2836E missense 0.00001090
683. 237831220 c.8552T>C p.I2851T missense 0.00002979
684. 237831245 c.8577G>C p.E2859D missense 0.00003190
685. 237831250 c.8582A>G p.E2861G missense 0.00003313
686. 237831260 c.8590+2T>C essential splice site 0.00003723
687. 237837394 c.8591-2_8591delAGG essential splice site 0.00001668
688. 237837411 c.8606C>T p.P2869L missense 0.00000830
689. 237837434 c.8629C>A p.L2877M missense 0.00000829
690. 237837462 c.8657G>C p.R2886T missense 0.00000829
691. 237837465 c.8660A>C p.E2887A missense 0.00000830
692. 237838033 c.8717G>T p.G2906V missense 0.00000953
693. 237838057 c.8741C>T p.T2914M missense 0.00003483
694. 237838074 c.8758C>T p.R2920X nonsense 0.00000853
695. 237838075 c.8759G>A p.R2920Q missense 0.00000852
696. 237838107 c.8791C>T p.R2931C missense 0.00001711
697. 237838117 c.8801A>G p.D2934G missense 0.00000864
698. 237838122 c.8806G>A p.A2936T missense 0.00000869
699. 237838132 c.8816A>G p.Y2939C missense 0.00000888
700. 237838147 c.8830+1G>A essential splice site 0.00000938
701. 237841353 c.8836G>A p.G2946S missense 0.00001106
702. 237841366 c.8849A>G p.K2950R missense 0.00001073
703. 237841372 c.8855A>G p.E2952G missense 0.00001071
704. 237841391 c.8874A>T p.Q2958H missense 0.00002335
705. 237841392 c.8875G>C p.E2959Q missense 0.00001176
706. 237841393 c.8876A>C p.E2959A missense 0.00004721
707. 237841396 c.8879T>C p.I2960T missense 0.00001206
708. 237841403 c.8886C>A p.F2962L missense 0.00001248
709. 237841410 c.8893A>G p.K2965E missense 0.00001320
710. 237843793 c.8933A>T p.H2978L missense 0.00005018
711. 237843796 c.8936G>A p.R2979H missense 0.00006102
712. 237843814 c.8954C>G p.A2985G missense 0.00001099
713. 237843816 c.8956G>A p.A2986T missense 0.00001109
714. 237843819 c.8959A>G p.S2987G missense 0.00001121
715. 237843824 c.8964A>T p.R2988S missense 0.00002302
716. 237843828 c.8968C>T p.L2990F missense 0.00002347
717. 237850768 c.9031C>A p.L3011I missense 0.00001252
718. 237850787 c.9050A>G p.H3017R missense 0.00001173
719. 237850789 c.9052A>G p.R3018G missense 0.00002340
720. 237862282 c.9085A>G p.I3029V missense 0.00003710
721. 237863530 c.9130A>T p.T3044S missense 0.00003971
722. 237863581 c.9181C>G p.L3061V missense 0.00002723
723. 237863585 c.9185A>G p.D3062G missense 0.00002632
724. 237863614 c.9214A>G p.M3072V missense 0.00002131
725. 237863626 c.9226A>C p.K3076Q missense 0.00001995
726. 237863651 c.9251G>A p.R3084Q missense 0.00001603
727. 237863659 c.9259C>T p.P3087S missense 0.00001509
728. 237863665 c.9265G>C p.G3089R missense 0.00001445
729. 237863680 c.9280A>G p.I3094V missense 0.00001310
730. 237863684 c.9284A>G p.N3095S missense 0.00001276
731. 237863735 c.9335T>C p.I3112T missense 0.00001064
732. 237863736 c.9336T>G p.I3112M missense 0.00001064
733. 237863738 c.9338G>A p.G3113D missense 0.00003229
734. 237863764 c.9364A>C p.I3122L missense 0.00001297
735. 237865317 c.9407G>A p.S3136N missense 0.00001731
736. 237865340 c.9430A>G p.K3144E missense 0.00000883
737. 237865343 c.9433A>T p.S3145C missense 0.00000887
738. 237868520 c.9457T>C p.S3153P missense 0.00001286
739. 237868529 c.9466G>A p.G3156R missense 0.00001277
740. 237868571 c.9508T>A p.F3170I missense 0.00001307
741. 237868572 c.9509T>A p.F3170Y missense 0.00001310
742. 237868581 c.9518C>T p.T3173I missense 0.00001325
743. 237868585 c.9522T>A p.H3174Q missense 0.00002658
744. 237868589 c.9526G>T p.D3176Y missense 0.00001340
745. 237868599 c.9536A>G p.N3179S missense 0.00001340
746. 237868632 c.9569G>A p.R3190Q missense 0.00004084
747. 237868638 c.9575G>T p.R3192I missense 0.00001370
748. 237870266 c.9598A>G p.N3200D missense 0.00000838
749. 237870268 c.9600T>A p.N3200K missense 0.00000837
750. 237870287 c.9619A>G p.N3207D missense 0.00003325
751. 237870290 c.9622A>G p.I3208V missense 0.00000831
752. 237870293 c.9625C>A p.P3209T missense 0.00000831
753. 237870309 c.9641T>A p.L3214H missense 0.00001659
754. 237870314 c.9646G>A p.E3216K missense 0.00001659
755. 237870323 c.9655G>A p.V3219M missense 0.00007462
756. 237870335 c.9667G>A p.E3223K missense 0.00005801
757. 237870337 c.9669G>C p.E3223D missense 0.00004143
758. 237870341 c.9673G>A p.G3225S missense 0.00000829
759. 237870347 c.9679C>T p.R3227C missense 0.00000828
760. 237870348 c.9680G>A p.R3227H missense 0.00000828
761. 237870359 c.9691A>G p.M3231V missense 0.00005798
762. 237870361 c.9693G>A p.M3231I missense 0.00000828
763. 237870371 c.9703A>G p.M3235V missense 0.00000828
764. 237870404 c.9736A>G p.M3246V missense 0.00002486
765. 237870406 c.9738G>A p.M3246I missense 0.00000829
766. 237870418 c.9750G>T p.W3250C missense 0.00000829
767. 237870423 c.9755A>G p.H3252R missense 0.00001658
768. 237870440 c.9772C>T p.P3258S missense 0.00002491
769. 237870446 c.9778C>T p.R3260W missense 0.00004153
770. 237870447 c.9779G>A p.R3260Q missense 0.00005817
771. 237870450 c.9782C>T p.A3261V missense 0.00000832
772. 237870452 c.9784G>A p.E3262K missense 0.00000832
773. 237870482 c.9814C>G p.H3272D missense 0.00001735
774. 237870492 c.9824C>G p.T3275R missense 0.00000905
775. 237870507 c.9839T>C p.I3280T missense 0.00001024
776. 237870536 c.9868A>T p.I3290F missense 0.00001386
777. 237870542 c.9874G>A p.E3292K missense 0.00002965
778. 237870548 c.9880G>A p.A3294T missense 0.00001568
779. 237870571 c.9901+2T>G essential splice site 0.00002193
780. 237872188 c.9932A>G p.K3311R missense 0.00001011
781. 237872202 c.9946A>G p.K3316E missense 0.00004882
782. 237872218 c.9962C>T p.P3321L missense 0.00000945
783. 237872223 c.9967A>G p.M3323V missense 0.00000928
784. 237872238 c.9982A>G p.K3328E missense 0.00000901
785. 237872251 c.9995C>T p.T3332M missense 0.00003525
786. 237872263 c.10007A>C p.E3336A missense 0.00000866
787. 237872265 c.10009G>A p.E3337K missense 0.00000864
788. 237872268 c.10012G>A p.D3338N missense 0.00000862
789. 237872270 c.10014C>G p.D3338E missense 0.00000861
790. 237872280 c.10024G>C p.A3342P missense 0.00000855
791. 237872283 c.10027G>C p.E3343Q missense 0.00000852
792. 237872291 c.10035G>C p.R3345S missense 0.00000849
793. 237872295 c.10039G>A p.D3347N missense 0.00000847
794. 237872301 c.10045T>A p.S3349T missense 0.00000845
795. 237872308 c.10052C>T p.A3351V missense 0.00001684
796. 237872329 c.10073A>G p.E3358G missense 0.00000837
797. 237872334 c.10078A>G p.T3360A missense 0.00001671
798. 237872343 c.10087G>C p.A3363P missense 0.00001670
799. 237872389 c.10133A>C p.D3378A missense 0.00000853
800. 237872818 c.10181A>C p.E3394A missense 0.00001006
801. 237872826 c.10189C>T p.R3397C missense 0.00003044
802. 237872827 c.10190G>T p.R3397L missense 0.00004056
803. 237872829 c.10192A>T p.M3398L missense 0.00001019
804. 237872841 c.10204G>A p.V3402M missense 0.00001055
805. 237872847 c.10210A>G p.I3404V missense 0.00001085
806. 237872857 c.10220C>T p.S3407L missense 0.00002271
807. 237875051 c.10237_10238delAA p.Glu3415ArgfsTer9 frameshift 0.00001561
808. 237875072 c.10258G>A p.V3420I missense 0.00005127
809. 237875080 c.10266G>C p.Q3422H missense 0.00003682
810. 237875116 c.10302T>A p.D3434E missense 0.00001199
811. 237875133 c.10319C>G p.S3440X nonsense 0.00001255
812. 237880504 c.10330G>C p.V3444L missense 0.00000913
813. 237880534 c.10360C>T p.R3454C missense 0.00000869
814. 237880547 c.10373G>A p.R3458Q missense 0.00000860
815. 237880572 c.10398T>G p.I3466M missense 0.00000849
816. 237880579 c.10405G>T p.A3469S missense 0.00000847
817. 237880613 c.10439T>C p.I3480T missense 0.00001691
818. 237880618 c.10444G>A p.A3482T missense 0.00001693
819. 237880618 c.10444G>T p.A3482S missense 0.00000846
820. 237880645 c.10471C>G p.L3491V missense 0.00000865
821. 237880658 c.10484G>T p.R3495L missense 0.00000892
822. 237881772 c.10505A>C p.E3502A missense 0.00001669
823. 237881783 c.10516C>T p.R3506X nonsense 0.00000835
824. 237881784 c.10517G>A p.R3506Q missense 0.00004174
825. 237881789 c.10522A>G p.I3508V missense 0.00000835
826. 237881790 c.10523T>C p.I3508T missense 0.00003340
827. 237881795 c.10528C>A p.R3510S missense 0.00003342
828. 237881795 c.10528C>T p.R3510C missense 0.00001671
829. 237881796 c.10529G>A p.R3510H missense 0.00000836
830. 237886430 c.10557G>T p.L3519F missense 0.00001665
831. 237886443 c.10570A>G p.I3524V missense 0.00001660
832. 237886488 c.10615G>A p.D3539N missense 0.00001656
833. 237886504 c.10631C>G p.P3544R missense 0.00001656
834. 237886504 c.10631C>T p.P3544L missense 0.00000828
835. 237886513 c.10640C>T p.T3547M missense 0.00003313
836. 237886513 c.10640C>G p.T3547R missense 0.00000828
837. 237886553 c.10680T>A p.H3560Q missense 0.00004150
838. 237889582 c.10699C>T p.R3567C missense 0.00004405
839. 237889583 c.10700G>T p.R3567L missense 0.00002179
840. 237889591 c.10708C>T p.R3570W missense 0.00006211
841. 237889592 c.10709G>A p.R3570Q missense 0.00002060
842. 237889602 c.10719_10720delCT p.Y3573*fs*1 frameshift 0.00002007
843. 237890408 c.10747A>C p.K3583Q missense 0.00000831
844. 237890440 c.10779G>C p.K3593N missense 0.00001660
845. 237890451 c.10790G>A p.R3597K missense 0.00001661
846. 237890472 c.10811G>T p.R3604L missense 0.00000834
847. 237890477 c.10816G>A p.A3606T missense 0.00001671
848. 237893609 c.10888G>C p.E3630Q missense 0.00000836
849. 237893609 c.10888G>A p.E3630K missense 0.00000836
850. 237893612 c.10891A>G p.T3631A missense 0.00000836
851. 237893618 c.10897G>A p.E3633K missense 0.00001673
852. 237895350 c.10940C>G p.P3647R missense 0.00000834
853. 237895372 c.10962A>C p.E3654D missense 0.00001662
854. 237895382 c.10972A>C p.T3658P missense 0.00000830
855. 237895383 c.10973C>G p.T3658S missense 0.00000830
856. 237895385 c.10975A>C p.K3659Q missense 0.00000830
857. 237895385 c.10975A>G p.K3659E missense 0.00003321
858. 237895388 c.10978delA p.Arg3660GlufsTer8 frameshift 0.00000830
859. 237895415 c.11005C>T p.L3669F missense 0.00000830
860. 237895428 c.11018G>A p.R3673Q missense 0.00002493
861. 237895444 c.11034G>T p.E3678D missense 0.00000832
862. 237895446 c.11036A>G p.K3679R missense 0.00000832
863. 237897012 c.11047G>A p.E3683K missense 0.00000859
864. 237897033 c.11068G>C p.A3690P missense 0.00000858
865. 237897055 c.11090A>G p.K3697R missense 0.00000867
866. 237905607 c.11103T>A p.D3701E missense 0.00003736
867. 237905624 c.11120G>C p.G3707A missense 0.00006795
868. 237919600 c.11158G>C p.E3720Q missense 0.00001665
869. 237919624 c.11182C>G p.Q3728E missense 0.00000831
870. 237919639 c.11197G>A p.D3733N missense 0.00000831
871. 237919648 c.11206G>A p.A3736T missense 0.00001663
872. 237919660 c.11218G>T p.V3740L missense 0.00000833
873. 237921001 c.11250A>C p.E3750D missense 0.00000829
874. 237921003 c.11252C>G p.T3751S missense 0.00001659
875. 237921021 c.11270C>A p.A3757D missense 0.00001658
876. 237921026 c.11275C>A p.L3759M missense 0.00000829
877. 237921044 c.11293A>G p.I3765V missense 0.00000829
878. 237923091 c.11341C>T p.L3781F missense 0.00000829
879. 237923098 c.11348A>T p.E3783V missense 0.00000828
880. 237923112 c.11362G>A p.G3788S missense 0.00000828
881. 237923143 c.11393A>C p.Q3798P missense 0.00000829
882. 237923148 c.11398T>A p.C3800S missense 0.00005800
883. 237924272 c.11420C>T p.A3807V missense 0.00003329
884. 237924275 c.11423T>A p.F3808Y missense 0.00006560
885. 237924314 c.11462C>T p.T3821I missense 0.00003052
886. 237934127 c.11497G>A p.D3833N missense 0.00004450
887. 237936822 c.11649A>T p.E3883D missense 0.00000847
888. 237936868 c.11695G>A p.D3899N missense 0.00000841
889. 237942017 c.11827G>A p.A3943T missense 0.00000829
890. 237944871 c.11887A>T p.S3963C missense 0.00002465
891. 237944879 c.11895T>G p.I3965M missense 0.00002189
892. 237946973 c.11963-2A>G essential splice site 0.00001216
893. 237946986 c.11974A>C p.N3992H missense 0.00001124
894. 237947010 c.11998G>A p.V4000M missense 0.00002001
895. 237947043 c.12031G>C p.E4011Q missense 0.00000945
896. 237947069 c.12057G>A p.M4019I missense 0.00001839
897. 237947088 c.12076T>G p.L4026V missense 0.00000896
898. 237947089 c.12077T>G p.L4026W missense 0.00000895
899. 237947095 c.12083C>T p.S4028L missense 0.00000886
900. 237947103 c.12091A>G p.T4031A missense 0.00004370
901. 237947104 c.12092C>A p.T4031N missense 0.00002619
902. 237947118 c.12106G>A p.D4036N missense 0.00009481
903. 237947128 c.12116G>T p.G4039V missense 0.00000854
904. 237947154 c.12142T>G p.F4048V missense 0.00000849
905. 237947172 c.12160A>G p.S4054G missense 0.00000850
906. 237947175 c.12163C>G p.H4055D missense 0.00000851
907. 237947179 c.12167A>G p.K4056R missense 0.00000852
908. 237947188 c.12176C>T p.T4059M missense 0.00000854
909. 237947221 c.12209C>T p.A4070V missense 0.00000860
910. 237947221 c.12209C>A p.A4070E missense 0.00000860
911. 237947223 c.12211G>A p.E4071K missense 0.00000857
912. 237947229 c.12217G>A p.D4073N missense 0.00000857
913. 237947230 c.12218A>G p.D4073G missense 0.00000856
914. 237947244 c.12232C>A p.L4078I missense 0.00002568
915. 237947248 c.12236A>G p.D4079G missense 0.00000855
916. 237947253 c.12241G>A p.E4081K missense 0.00002565
917. 237947256 c.12244G>A p.E4082K missense 0.00002562
918. 237947261 c.12249C>A p.F4083L missense 0.00000854
919. 237947269 c.12257G>A p.R4086H missense 0.00000853
920. 237947295 c.12283G>A p.G4095S missense 0.00000847
921. 237947310 c.12298G>A p.V4100I missense 0.00000840
922. 237947343 c.12331A>C p.N4111H missense 0.00002501
923. 237947381 c.12369G>C p.E4123D missense 0.00000831
924. 237947385 c.12373G>A p.V4125I missense 0.00001662
925. 237947415 c.12403C>T p.R4135C missense 0.00000829
926. 237947416 c.12404G>A p.R4135H missense 0.00004146
927. 237947428 c.12416T>C p.M4139T missense 0.00000829
928. 237947439 c.12427A>C p.K4143Q missense 0.00004143
929. 237947439 c.12427A>G p.K4143E missense 0.00000829
930. 237947550 c.12538G>C p.G4180R missense 0.00000828
931. 237947553 c.12541G>A p.G4181R missense 0.00009938
932. 237947592 c.12580G>A p.E4194K missense 0.00000828
933. 237947601 c.12589A>G p.I4197V missense 0.00000829
934. 237947659 c.12647C>T p.A4216V missense 0.00000830
935. 237947670 c.12658G>A p.E4220K missense 0.00000831
936. 237947673 c.12661A>G p.S4221G missense 0.00000831
937. 237947675 c.12663C>G p.S4221R missense 0.00001662
938. 237947676 c.12664G>A p.E4222K missense 0.00000831
939. 237947677 c.12665_12667delAGA p.Lys4223del inframe 0.00009141
940. 237947684 c.12672G>C p.E4224D missense 0.00000832
941. 237947696 c.12684G>T p.E4228D missense 0.00001668
942. 237947707 c.12695G>A p.R4232K missense 0.00000837
943. 237947712 c.12700G>A p.A4234T missense 0.00000838
944. 237947740 c.12728C>A p.S4243X nonsense 0.00000843
945. 237947758 c.12746G>C p.R4249T missense 0.00000845
946. 237947763 c.12751A>G p.N4251D missense 0.00000845
947. 237947764 c.12752A>G p.N4251S missense 0.00002535
948. 237947775 c.12763C>T p.L4255F missense 0.00000846
949. 237947779 c.12767T>C p.M4256T missense 0.00005078
950. 237947781 c.12769C>T p.R4257X nonsense 0.00001695
951. 237947800 c.12788G>A p.S4263N missense 0.00000847
952. 237947812 c.12800A>G p.Q4267R missense 0.00004228
953. 237947823 c.12811G>A p.V4271I missense 0.00000845
954. 237947829 c.12817A>G p.K4273E missense 0.00000843
955. 237947838 c.12826G>A p.V4276M missense 0.00004202
956. 237947847 c.12835A>G p.M4279V missense 0.00000837
957. 237947849 c.12837G>A p.M4279I missense 0.00002511
958. 237947853 c.12841A>T p.T4281S missense 0.00000836
959. 237947854 c.12842C>T p.T4281M missense 0.00009195
960. 237947857 c.12845C>T p.A4282V missense 0.00001670
961. 237947863 c.12851T>C p.F4284S missense 0.00000834
962. 237947866 c.12854C>T p.S4285L missense 0.00000834
963. 237947871 c.12859T>C p.Y4287H missense 0.00000833
964. 237947873 c.12861C>A p.Tyr4287Ter nonsense 0.00000833
965. 237947880 c.12868A>T p.I4290F missense 0.00000832
966. 237947904 c.12892G>A p.V4298M missense 0.00000830
967. 237947913 c.12901G>C p.V4301L missense 0.00000829
968. 237947929 c.12917T>C p.F4306S missense 0.00002487
969. 237947932 c.12920G>A p.R4307H missense 0.00001658
970. 237947956 c.12944G>A p.G4315E missense 0.00002487
971. 237947974 c.12962G>T p.G4321V missense 0.00000831
972. 237947991 c.12979G>C p.V4327L missense 0.00000834
973. 237947995 c.12983C>T p.A4328V missense 0.00000836
974. 237948020 c.13008C>A p.D4336E missense 0.00000842
975. 237948034 c.13022A>C p.E4341A missense 0.00000845
976. 237948047 c.13035T>A p.D4345E missense 0.00000846
977. 237948099 c.13087C>G p.L4363V missense 0.00000836
978. 237948100 c.13088T>C p.L4363P missense 0.00000836
979. 237948105 c.13093G>A p.D4365N missense 0.00002503
980. 237948181 c.13169A>G p.Q4390R missense 0.00000962
981. 237948187 c.13175A>G p.K4392R missense 0.00000994
982. 237948203 c.13191T>A p.N4397K missense 0.00001110
983. 237948207 c.13195A>G p.N4399D missense 0.00002279
984. 237948210 c.13198G>T p.A4400S missense 0.00001172
985. 237948225 c.13213C>T p.L4405F missense 0.00001301
986. 237948229 c.13217T>A p.M4406K missense 0.00001338
987. 237948232 c.13220G>A p.S4407N missense 0.00008269
988. 237948241 c.13229T>C p.V4410A missense 0.00001502
989. 237949270 c.13262A>C p.E4421A missense 0.00002061
990. 237949275 c.13267A>C p.K4423Q missense 0.00002072
991. 237949282 c.13274_13276delAAG p.Glu4428del inframe 0.00002091
992. 237949292 c.13284A>C p.E4428D missense 0.00002115
993. 237949302 c.13294A>C p.K4432Q missense 0.00002124
994. 237949309 c.13301A>C p.E4434A missense 0.00002162
995. 237949311 c.13303A>G p.T4435A missense 0.00002182
996. 237949323 c.13315C>A p.P4439T missense 0.00002273
997. 237951299 c.13340G>A p.G4447E missense 0.00002179
998. 237951310 c.13351G>A p.E4451K missense 0.00003937
999. 237951329 c.13370A>G p.K4457R missense 0.00001537
1000. 237951330 c.13371G>T p.K4457N missense 0.00001520
1001. 237951338 c.13379A>G p.Q4460R missense 0.00002766
1002. 237951358 c.13399A>G p.T4467A missense 0.00001146
1003. 237951365 c.13406G>C p.R4469T missense 0.00001089
1004. 237951368 c.13409A>G p.Y4470C missense 0.00001068
1005. 237951412 c.13453A>G p.I4485V missense 0.00000948
1006. 237951416 c.13457C>G p.A4486G missense 0.00000947
1007. 237954728 c.13477-1G>C essential splice site 0.00003161
1008. 237954780 c.13528G>A p.A4510T missense 0.00005747
1009. 237955411 c.13570A>G p.T4524A missense 0.00002457
1010. 237955412 c.13571C>T p.T4524I missense 0.00002422
1011. 237955412 c.13571_13573delCTT p.Ser4526del inframe 0.00002457
1012. 237955441 c.13600C>T p.P4534S missense 0.00007994
1013. 237955442 c.13601C>T p.P4534L missense 0.00001574
1014. 237955445 c.13604C>T p.T4535M missense 0.00001501
1015. 237955456 c.13615A>C p.S4539R missense 0.00001255
1016. 237955468 c.13627A>T p.K4543X nonsense 0.00001113
1017. 237955478 c.13637G>A p.S4546N missense 0.00001027
1018. 237955482 c.13641delG p.Asp4548ThrfsTer14 frameshift 0.00000989
1019. 237955496 c.13655A>G p.H4552R missense 0.00000900
1020. 237955507 c.13666G>A p.A4556T missense 0.00002601
1021. 237955531 c.13690A>G p.S4564G missense 0.00000839
1022. 237955553 c.13712C>T p.T4571M missense 0.00000834
1023. 237955558 c.13717C>A p.R4573S missense 0.00000834
1024. 237955559 c.13718G>A p.R4573H missense 0.00000834
1025. 237957249 c.13865C>T p.S4622L missense 0.00000837
1026. 237957259 c.13875T>G p.D4625E missense 0.00000836
1027. 237957284 c.13900G>A p.V4634I missense 0.00000836
1028. 237957289 c.13905C>G p.I4635M missense 0.00000837
1029. 237957291 c.13907A>G p.N4636S missense 0.00000836
1030. 237961337 c.13957G>A p.V4653I missense 0.00007794
1031. 237961356 c.13976A>G p.E4659G missense 0.00001072
1032. 237961365 c.13985G>T p.G4662V missense 0.00001051
1033. 237961377 c.13997T>C p.I4666T missense 0.00001023
1034. 237961388 c.14008C>G p.L4670V missense 0.00001011
1035. 237961406 c.14026G>T p.A4676S missense 0.00000990
1036. 237961428 c.14048G>A p.R4683K missense 0.00001928
1037. 237961429 c.14049A>T p.R4683S missense 0.00001925
1038. 237965163 c.14098T>G p.S4700A missense 0.00001675
1039. 237965183 c.14118G>C p.Q4706H missense 0.00000837
1040. 237965199 c.14134G>T p.V4712F missense 0.00000839
1041. 237965217 c.14151+1G>A essential splice site 0.00000849
1042. 237969438 c.14153C>A p.S4718Y missense 0.00000832
1043. 237969452 c.14167G>A p.A4723T missense 0.00001661
1044. 237969457 c.14172G>C p.W4724C missense 0.00000830
1045. 237969494 c.14209dupT p.Ala4740CysfsTer56 frameshift 0.00009655
1046. 237969533 c.14248T>C p.F4750L missense 0.00000828
1047. 237969558 c.14273C>T p.S4758F missense 0.00000829
1048. 237972204 c.14302G>A p.V4768I missense 0.00001656
1049. 237972246 c.14344A>G p.T4782A missense 0.00001656
1050. 237972271 c.14369G>A p.R4790Q missense 0.00000828
1051. 237972306 c.14404C>T p.P4802S missense 0.00000828
1052. 237972324 c.14422G>A p.D4808N missense 0.00000828
1053. 237982395 c.14493C>G p.I4831M missense 0.00000829
1054. 237982415 c.14513A>G p.E4838G missense 0.00000828
1055. 237982465 c.14563A>G p.I4855V missense 0.00000828
1056. 237993842 c.14668A>G p.I4890V missense 0.00000828
1057. 237993852 c.14678T>C p.I4893T missense 0.00000828
1058. 237993862 c.14688T>A p.D4896E missense 0.00000828
1059. 237993882 c.14708A>G p.H4903R missense 0.00001657
1060. 237993931 c.14756+1G>A essential splice site 0.00000833
1061. 237994814 c.14757_14758insT p.Leu4922SerfsTer9 frameshift 0.00000896
1062. 237995912 c.14869T>A p.C4957S missense 0.00000847
1063. 237995918 c.14875C>T p.R4959W missense 0.00002551
1064. 237995926 c.14883G>T p.Q4961H missense 0.00000856
1065. 237995927 c.14884T>A p.Y4962N missense 0.00001713
1066. 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.