RYR2 non-truncating variants in ExAC


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 frequencyPopulations*
1. 237947553 c.12541G>A p.G4181R missense 0.00009938
2. 237433824 c.76G>A p.A26T missense 0.00009908
3. 237947118 c.12106G>A p.D4036N missense 0.00009481
4. 237947854 c.12842C>T p.T4281M missense 0.00009195
5. 237604757 c.1144G>A p.V382M missense 0.00009186
6. 237824218 c.8407C>T p.R2803W missense 0.00009179
7. 237947677 c.12665_12667delAGA p.Lys4223del inframe 0.00009141
8. 237619984 c.1561G>A p.E521K missense 0.00009123
9. 237713929 c.3152G>A p.R1051H missense 0.00008803
10. 237617852 c.1454G>A p.R485Q missense 0.00008645
11. 237774070 c.4692G>A p.M1564I missense 0.00008584
12. 237811912 c.7511C>T p.T2504M missense 0.00008563
13. 237817674 c.7925G>A p.R2642K missense 0.00008334
14. 237777856 c.5428G>C p.V1810L missense 0.00008297
15. 237948232 c.13220G>A p.S4407N missense 0.00008269
16. 237955441 c.13600C>T p.P4534S missense 0.00007994
17. 237961337 c.13957G>A p.V4653I missense 0.00007794
18. 237787071 c.5923A>G p.M1975V missense 0.00007522
19. 237870323 c.9655G>A p.V3219M missense 0.00007462
20. 237532877 c.353C>T p.A118V missense 0.00007329
21. 237670038 c.2642T>G p.I881R missense 0.00006953
22. 237905624 c.11120G>C p.G3707A missense 0.00006795
23. 237780663 c.5793T>G p.D1931E missense 0.00006698
24. 237802446 c.7060G>A p.A2354T missense 0.00006692
25. 237774113 c.4735G>A p.V1579M missense 0.00006690
26. 237617756 c.1358G>C p.S453T missense 0.00006642
27. 237754201 c.4069G>C p.D1357H missense 0.00006633
28. 237730050 c.3398G>A p.R1133H missense 0.00006625
29. 237924275 c.11423T>A p.F3808Y missense 0.00006560
30. 237889591 c.10708C>T p.R3570W missense 0.00006211
31. 237843796 c.8936G>A p.R2979H missense 0.00006102
32. 237754015 c.3883A>G p.S1295G missense 0.00006095
33. 237755151 c.4273A>G p.T1425A missense 0.00006081
34. 237802462 c.7076G>A p.R2359Q missense 0.00005874
35. 237870447 c.9779G>A p.R3260Q missense 0.00005817
36. 237617752 c.1354G>A p.V452I missense 0.00005813
37. 237711849 c.3025C>T p.R1009W missense 0.00005810
38. 237664196 c.2389G>A p.G797R missense 0.00005801
39. 237870335 c.9667G>A p.E3223K missense 0.00005801
40. 237923148 c.11398T>A p.C3800S missense 0.00005800
41. 237870359 c.9691A>G p.M3231V missense 0.00005798
42. 237954780 c.13528G>A p.A4510T missense 0.00005747
43. 237755067 c.4189T>A p.Y1397N missense 0.00005619
44. 237666594 c.2402G>T p.R801L missense 0.00005509
45. 237774218 c.4840C>T p.R1614C missense 0.00005407
46. 237755119 c.4241G>A p.R1414Q missense 0.00005403
47. 237811860 c.7459C>A p.L2487I missense 0.00005355
48. 237875072 c.10258G>A p.V3420I missense 0.00005127
49. 237947779 c.12767T>C p.M4256T missense 0.00005078
50. 237829825 c.8450C>T p.A2817V missense 0.00005021
51. 237843793 c.8933A>T p.H2978L missense 0.00005018
52. 237777998 c.5570C>T p.P1857L missense 0.00004999
53. 237617790 c.1392C>A p.H464Q missense 0.00004988
54. 237791260 c.6320C>T p.T2107M missense 0.00004983
55. 237756888 c.4388G>A p.R1463H missense 0.00004975
56. 237670011 c.2615T>C p.I872T missense 0.00004932
57. 237872202 c.9946A>G p.K3316E missense 0.00004882
58. 237824245 c.8434C>G p.Q2812E missense 0.00004746
59. 237841393 c.8876A>C p.E2959A missense 0.00004721
60. 237824219 c.8408G>A p.R2803Q missense 0.00004589
61. 237824125 c.8314C>T p.R2772C missense 0.00004557
62. 237824189 c.8378G>A p.R2793Q missense 0.00004512
63. 237824153 c.8342C>T p.T2781I missense 0.00004510
64. 237433891 c.143T>C p.F48S missense 0.00004480
65. 237821259 c.8145G>T p.E2715D missense 0.00004472
66. 237821261 c.8147A>T p.K2716I missense 0.00004467
67. 237934127 c.11497G>A p.D3833N missense 0.00004450
68. 237821272 c.8158T>C p.F2720L missense 0.00004430
69. 237889582 c.10699C>T p.R3567C missense 0.00004405
70. 237666641 c.2449C>G p.P817A missense 0.00004403
71. 237711733 c.2909A>G p.Y970C missense 0.00004380
72. 237947103 c.12091A>G p.T4031A missense 0.00004370
73. 237814727 c.7750A>G p.M2584V missense 0.00004279
74. 237947812 c.12800A>G p.Q4267R missense 0.00004228
75. 237947838 c.12826G>A p.V4276M missense 0.00004202
76. 237540715 c.556G>A p.V186M missense 0.00004184
77. 237617702 c.1304C>T p.A435V missense 0.00004181
78. 237881784 c.10517G>A p.R3506Q missense 0.00004174
79. 237791220 c.6280G>A p.G2094S missense 0.00004161
80. 237791286 c.6346A>G p.T2116A missense 0.00004156
81. 237870446 c.9778C>T p.R3260W missense 0.00004153
82. 237632454 c.1675A>G p.I559V missense 0.00004151
83. 237754228 c.4096A>G p.T1366A missense 0.00004151
84. 237886553 c.10680T>A p.H3560Q missense 0.00004150
85. 237947416 c.12404G>A p.R4135H missense 0.00004146
86. 237659822 c.1973A>G p.N658S missense 0.00004144
87. 237947439 c.12427A>C p.K4143Q missense 0.00004143
88. 237870337 c.9669G>C p.E3223D missense 0.00004143
89. 237659836 c.1987G>A p.V663I missense 0.00004142
90. 237664082 c.2275T>A p.L759I missense 0.00004142
91. 237666765 c.2573C>T p.T858M missense 0.00004142
92. 237777722 c.5294C>T p.S1765F missense 0.00004141
93. 237806639 c.7234G>A p.G2412R missense 0.00004141
94. 237659953 c.2104G>A p.G702R missense 0.00004140
95. 237868632 c.9569G>A p.R3190Q missense 0.00004084
96. 237819152 c.7997T>A p.L2666Q missense 0.00004076
97. 237872827 c.10190G>T p.R3397L missense 0.00004056
98. 237863530 c.9130A>T p.T3044S missense 0.00003971
99. 237780587 c.5717T>C p.M1906T missense 0.00003954
100. 237951310 c.13351G>A p.E4451K missense 0.00003937
101. 237905607 c.11103T>A p.D3701E missense 0.00003736
102. 237862282 c.9085A>G p.I3029V missense 0.00003710
103. 237823324 c.8248T>A p.S2750T missense 0.00003709
104. 237823338 c.8262G>C p.Q2754H missense 0.00003708
105. 237532864 c.340C>G p.L114V missense 0.00003701
106. 237875080 c.10266G>C p.Q3422H missense 0.00003682
107. 237780632 c.5762G>A p.R1921Q missense 0.00003537
108. 237872251 c.9995C>T p.T3332M missense 0.00003525
109. 237838057 c.8741C>T p.T2914M missense 0.00003483
110. 237670038 c.2642T>A p.I881K missense 0.00003476
111. 237780644 c.5774T>C p.I1925T missense 0.00003432
112. 237604778 c.1165C>T p.R389C missense 0.00003396
113. 237774111 c.4733C>G p.P1578R missense 0.00003389
114. 237729878 c.3226G>A p.E1076K missense 0.00003359
115. 237881795 c.10528C>A p.R3510S missense 0.00003342
116. 237881790 c.10523T>C p.I3508T missense 0.00003340
117. 237778016 c.5588C>T p.T1863M missense 0.00003336
118. 237787081 c.5933A>G p.N1978S missense 0.00003330
119. 237924272 c.11420C>T p.A3807V missense 0.00003329
120. 237580390 c.815G>T p.R272L missense 0.00003328
121. 237870287 c.9619A>G p.N3207D missense 0.00003325
122. 237777922 c.5494G>A p.G1832S missense 0.00003324
123. 237777937 c.5509G>A p.E1837K missense 0.00003324
124. 237777400 c.4972C>T p.L1658F missense 0.00003321
125. 237895385 c.10975A>G p.K3659E missense 0.00003321
126. 237780695 c.5825T>G p.F1942C missense 0.00003320
127. 237586493 c.950T>C p.M317T missense 0.00003317
128. 237777484 c.5056C>T p.L1686F missense 0.00003315
129. 237777682 c.5254G>A p.G1752S missense 0.00003315
130. 237831250 c.8582A>G p.E2861G missense 0.00003313
131. 237801664 c.6800G>A p.R2267H missense 0.00003313
132. 237886513 c.10640C>T p.T3547M missense 0.00003313
133. 237729947 c.3295G>A p.G1099R missense 0.00003312
134. 237659894 c.2045C>G p.T682R missense 0.00003312
135. 237813288 c.7624G>A p.A2542T missense 0.00003312
136. 237729951 c.3299G>A p.R1100Q missense 0.00003312
137. 237863738 c.9338G>A p.G3113D missense 0.00003229
138. 237831245 c.8577G>C p.E2859D missense 0.00003190
139. 237433797 c.49G>A p.D17N missense 0.00003108
140. 237675030 c.2761T>A p.F921I missense 0.00003076
141. 237924314 c.11462C>T p.T3821I missense 0.00003052
142. 237872826 c.10189C>T p.R3397C missense 0.00003044
143. 237798272 c.6772C>T p.R2258C missense 0.00003041
144. 237713893 c.3116A>T p.D1039V missense 0.00002987
145. 237831220 c.8552T>C p.I2851T missense 0.00002979
146. 237713953 c.3176G>A p.G1059E missense 0.00002965
147. 237870542 c.9874G>A p.E3292K missense 0.00002965
148. 237819215 c.8060G>A p.S2687N missense 0.00002900
149. 237823304 c.8228A>G p.Y2743C missense 0.00002860
150. 237823345 c.8269A>G p.M2757V missense 0.00002814
151. 237951338 c.13379A>G p.Q4460R missense 0.00002766
152. 237791172 c.6232C>T p.P2078S missense 0.00002723
153. 237863581 c.9181C>G p.L3061V missense 0.00002723
154. 237713946 c.3169C>A p.L1057M missense 0.00002678
155. 237868585 c.9522T>A p.H3174Q missense 0.00002658
156. 237863585 c.9185A>G p.D3062G missense 0.00002632
157. 237713944 c.3167C>T p.T1056M missense 0.00002620
158. 237947104 c.12092C>A p.T4031N missense 0.00002619
159. 237656263 c.1837G>A p.V613I missense 0.00002601
160. 237955507 c.13666G>A p.A4556T missense 0.00002601
161. 237754277 c.4145C>G p.S1382C missense 0.00002595
162. 237947244 c.12232C>A p.L4078I missense 0.00002568
163. 237713941 c.3164G>A p.R1055H missense 0.00002566
164. 237947253 c.12241G>A p.E4081K missense 0.00002565
165. 237947256 c.12244G>A p.E4082K missense 0.00002562
166. 237604779 c.1166G>A p.R389H missense 0.00002556
167. 237995918 c.14875C>T p.R4959W missense 0.00002551
168. 237947764 c.12752A>G p.N4251S missense 0.00002535
169. 237787065 c.5917A>G p.I1973V missense 0.00002518
170. 237811755 c.7354G>A p.V2452M missense 0.00002511
171. 237947849 c.12837G>A p.M4279I missense 0.00002511
172. 237619915 c.1492G>A p.V498M missense 0.00002504
173. 237778028 c.5600A>C p.E1867A missense 0.00002504
174. 237778021 c.5593G>A p.E1865K missense 0.00002503
175. 237948105 c.13093G>A p.D4365N missense 0.00002503
176. 237947343 c.12331A>C p.N4111H missense 0.00002501
177. 237729890 c.3238G>A p.G1080S missense 0.00002497
178. 237660037 c.2188C>T p.L730F missense 0.00002495
179. 237617722 c.1324G>T p.A442S missense 0.00002495
180. 237791224 c.6284T>C p.I2095T missense 0.00002495
181. 237789053 c.6115C>A p.L2039M missense 0.00002494
182. 237895428 c.11018G>A p.R3673Q missense 0.00002493
183. 237870440 c.9772C>T p.P3258S missense 0.00002491
184. 237754229 c.4097C>A p.T1366N missense 0.00002491
185. 237780691 c.5821C>T p.R1941C missense 0.00002491
186. 237780692 c.5822G>A p.R1941H missense 0.00002491
187. 237711850 c.3026G>A p.R1009Q missense 0.00002490
188. 237732502 c.3481G>C p.V1161L missense 0.00002489
189. 237813192 c.7528A>G p.T2510A missense 0.00002488
190. 237608802 c.1272C>G p.F424L missense 0.00002488
191. 237777626 c.5198C>T p.T1733M missense 0.00002488
192. 237777418 c.4990G>A p.V1664I missense 0.00002488
193. 237777848 c.5420G>A p.R1807Q missense 0.00002488
194. 237947956 c.12944G>A p.G4315E missense 0.00002487
195. 237754201 c.4069G>A p.D1357N missense 0.00002487
196. 237947929 c.12917T>C p.F4306S missense 0.00002487
197. 237608780 c.1250G>A p.R417Q missense 0.00002487
198. 237870404 c.9736A>G p.M3246V missense 0.00002486
199. 237777474 c.5046A>C p.E1682D missense 0.00002486
200. 237666758 c.2566T>C p.S856P missense 0.00002485
201. 237666737 c.2545G>A p.D849N missense 0.00002485
202. 237604656 c.1043G>A p.G348D missense 0.00002485
203. 237813285 c.7621C>A p.H2541N missense 0.00002484
204. 237813288 c.7624G>T p.A2542S missense 0.00002484
205. 237813372 c.7708G>A p.E2570K missense 0.00002484
206. 237664171 c.2364C>A p.F788L missense 0.00002484
207. 237664155 c.2348A>G p.N783S missense 0.00002484
208. 237713940 c.3163C>T p.R1055C missense 0.00002481
209. 237666612 c.2420G>A p.R807Q missense 0.00002475
210. 237944871 c.11887A>T p.S3963C missense 0.00002465
211. 237955412 c.13571_13573delCTT p.Ser4526del inframe 0.00002457
212. 237955411 c.13570A>G p.T4524A missense 0.00002457
213. 237656302 c.1876C>T p.R626C missense 0.00002437
214. 237955412 c.13571C>T p.T4524I missense 0.00002422
215. 237843828 c.8968C>T p.L2990F missense 0.00002347
216. 237850789 c.9052A>G p.R3018G missense 0.00002340
217. 237841391 c.8874A>T p.Q2958H missense 0.00002335
218. 237814785 c.7808C>G p.A2603G missense 0.00002311
219. 237814785 c.7808C>T p.A2603V missense 0.00002311
220. 237843824 c.8964A>T p.R2988S missense 0.00002302
221. 237948207 c.13195A>G p.N4399D missense 0.00002279
222. 237949323 c.13315C>A p.P4439T missense 0.00002273
223. 237656270 c.1844G>A p.C615Y missense 0.00002271
224. 237872857 c.10220C>T p.S3407L missense 0.00002271
225. 237433834 c.86A>G p.H29R missense 0.00002252
226. 237814721 c.7744C>A p.P2582T missense 0.00002231
227. 237774114 c.4736T>A p.V1579E missense 0.00002215
228. 237774114 c.4736T>C p.V1579A missense 0.00002215
229. 237944879 c.11895T>G p.I3965M missense 0.00002189
230. 237433884 c.136C>A p.L46I missense 0.00002188
231. 237949311 c.13303A>G p.T4435A missense 0.00002182
232. 237889583 c.10700G>T p.R3567L missense 0.00002179
233. 237951299 c.13340G>A p.G4447E missense 0.00002179
234. 237538090 c.458C>T p.T153I missense 0.00002166
235. 237949309 c.13301A>C p.E4434A missense 0.00002162
236. 237527664 c.301A>T p.M101L missense 0.00002135
237. 237863614 c.9214A>G p.M3072V missense 0.00002131
238. 237814728 c.7751T>A p.M2584K missense 0.00002130
239. 237774124 c.4746C>G p.C1582W missense 0.00002124
240. 237949302 c.13294A>C p.K4432Q missense 0.00002124
241. 237949292 c.13284A>C p.E4428D missense 0.00002115
242. 237829818 c.8443G>A p.V2815M missense 0.00002103
243. 237804198 c.7117G>T p.D2373Y missense 0.00002100
244. 237433860 c.112G>T p.A38S missense 0.00002094
245. 237949282 c.13274_13276delAAG p.Glu4428del inframe 0.00002091
246. 237433867 c.119A>G p.E40G missense 0.00002080
247. 237949275 c.13267A>C p.K4423Q missense 0.00002072
248. 237949270 c.13262A>C p.E4421A missense 0.00002061
249. 237889592 c.10709G>A p.R3570Q missense 0.00002060
250. 237814777 c.7800T>A p.N2600K missense 0.00002045
251. 237814775 c.7798A>G p.N2600D missense 0.00002040
252. 237814751 c.7774T>G p.L2592V missense 0.00002002
253. 237947010 c.11998G>A p.V4000M missense 0.00002001
254. 237863626 c.9226A>C p.K3076Q missense 0.00001995
255. 237538041 c.409C>T p.R137W missense 0.00001988
256. 237656276 c.1850T>C p.L617P missense 0.00001987
257. 237538044 c.412T>G p.S138A missense 0.00001972
258. 237829830 c.8455C>T p.H2819Y missense 0.00001968
259. 237794731 c.6445A>G p.I2149V missense 0.00001946
260. 237774260 c.4882A>G p.M1628V missense 0.00001933
261. 237961428 c.14048G>A p.R4683K missense 0.00001928
262. 237961429 c.14049A>T p.R4683S missense 0.00001925
263. 237670013 c.2617G>A p.V873M missense 0.00001915
264. 237774252 c.4874T>G p.L1625R missense 0.00001873
265. 237780620 c.5750A>G p.Q1917R missense 0.00001863
266. 237666635 c.2443C>T p.P815S missense 0.00001842
267. 237947069 c.12057G>A p.M4019I missense 0.00001839
268. 237753959 c.3827C>T p.T1276I missense 0.00001816
269. 237753971 c.3839C>T p.S1280F missense 0.00001812
270. 237774207 c.4829G>A p.R1610Q missense 0.00001810
271. 237670023 c.2627C>T p.P876L missense 0.00001807
272. 237774219 c.4841G>A p.R1614H missense 0.00001803
273. 237819262 c.8107C>A p.P2703T missense 0.00001791
274. 237551479 c.769C>T p.R257W missense 0.00001784
275. 237656366 c.1940G>A p.R647H missense 0.00001752
276. 237656377 c.1951C>T p.H651Y missense 0.00001745
277. 237870482 c.9814C>G p.H3272D missense 0.00001735
278. 237865317 c.9407G>A p.S3136N missense 0.00001731
279. 237670113 c.2717C>T p.P906L missense 0.00001726
280. 237670112 c.2716C>G p.P906A missense 0.00001723
281. 237789091 c.6153C>G p.D2051E missense 0.00001720
282. 237754022 c.3890C>A p.T1297N missense 0.00001716
283. 237995927 c.14884T>A p.Y4962N missense 0.00001713
284. 237838107 c.8791C>T p.R2931C missense 0.00001711
285. 237713914 c.3137A>G p.N1046S missense 0.00001706
286. 237754028 c.3896T>C p.I1299T missense 0.00001701
287. 237670094 c.2698C>T p.L900F missense 0.00001700
288. 237802480 c.7094A>G p.N2365S missense 0.00001698
289. 237754029 c.3897C>G p.I1299M missense 0.00001698
290. 237802477 c.7091C>G p.P2364R missense 0.00001695
291. 237778073 c.5645A>G p.E1882G missense 0.00001695
292. 237670062 c.2666T>C p.I889T missense 0.00001693
293. 237880618 c.10444G>A p.A3482T missense 0.00001693
294. 237540628 c.469G>T p.A157S missense 0.00001693
295. 237880613 c.10439T>C p.I3480T missense 0.00001691
296. 237872308 c.10052C>T p.A3351V missense 0.00001684
297. 237965163 c.14098T>G p.S4700A missense 0.00001675
298. 237586525 c.982G>A p.A328T missense 0.00001674
299. 237753261 c.3767C>T p.P1256L missense 0.00001673
300. 237893618 c.10897G>A p.E3633K missense 0.00001673
301. 237540649 c.490C>A p.P164T missense 0.00001673
302. 237664033 c.2226C>G p.S742R missense 0.00001672
303. 237753260 c.3766C>A p.P1256T missense 0.00001672
304. 237890477 c.10816G>A p.A3606T missense 0.00001671
305. 237881795 c.10528C>T p.R3510C missense 0.00001671
306. 237872334 c.10078A>G p.T3360A missense 0.00001671
307. 237732452 c.3431G>A p.R1144Q missense 0.00001670
308. 237947857 c.12845C>T p.A4282V missense 0.00001670
309. 237872343 c.10087G>C p.A3363P missense 0.00001670
310. 237778030 c.5602C>A p.L1868I missense 0.00001670
311. 237881772 c.10505A>C p.E3502A missense 0.00001669
312. 237711879 c.3055G>A p.G1019S missense 0.00001668
313. 237947696 c.12684G>T p.E4228D missense 0.00001668
314. 237780671 c.5801C>T p.A1934V missense 0.00001668
315. 237778001 c.5573A>T p.E1858V missense 0.00001667
316. 237632478 c.1699G>C p.A567P missense 0.00001667
317. 237886430 c.10557G>T p.L3519F missense 0.00001665
318. 237919600 c.11158G>C p.E3720Q missense 0.00001665
319. 237617717 c.1319C>T p.A440V missense 0.00001665
320. 237753116 c.3622G>A p.G1208R missense 0.00001664
321. 237919648 c.11206G>A p.A3736T missense 0.00001663
322. 237580371 c.796G>A p.A266T missense 0.00001663
323. 237617797 c.1399G>A p.D467N missense 0.00001663
324. 237791238 c.6298C>T p.R2100W missense 0.00001662
325. 237758805 c.4444C>T p.R1482C missense 0.00001662
326. 237895372 c.10962A>C p.E3654D missense 0.00001662
327. 237947675 c.12663C>G p.S4221R missense 0.00001662
328. 237947385 c.12373G>A p.V4125I missense 0.00001662
329. 237969452 c.14167G>A p.A4723T missense 0.00001661
330. 237777902 c.5474T>C p.F1825S missense 0.00001661
331. 237890451 c.10790G>A p.R3597K missense 0.00001661
332. 237787125 c.5977C>T p.R1993C missense 0.00001660
333. 237890440 c.10779G>C p.K3593N missense 0.00001660
334. 237608814 c.1284A>T p.R428S missense 0.00001660
335. 237787120 c.5972A>G p.E1991G missense 0.00001660
336. 237886443 c.10570A>G p.I3524V missense 0.00001660
337. 237758860 c.4499G>A p.R1500H missense 0.00001660
338. 237732502 c.3481G>T p.V1161F missense 0.00001659
339. 237870314 c.9646G>A p.E3216K missense 0.00001659
340. 237660023 c.2174A>G p.Y725C missense 0.00001659
341. 237758859 c.4498C>T p.R1500C missense 0.00001659
342. 237787126 c.5978G>A p.R1993H missense 0.00001659
343. 237777617 c.5189C>T p.T1730M missense 0.00001659
344. 237758850 c.4489G>A p.G1497R missense 0.00001659
345. 237870309 c.9641T>A p.L3214H missense 0.00001659
346. 237921003 c.11252C>G p.T3751S missense 0.00001659
347. 237777847 c.5419C>T p.R1807W missense 0.00001659
348. 237758853 c.4492C>G p.Q1498E missense 0.00001659
349. 237664201 c.2394A>G p.I798M missense 0.00001658
350. 237921021 c.11270C>A p.A3757D missense 0.00001658
351. 237756893 c.4393G>A p.V1465I missense 0.00001658
352. 237756821 c.4321G>A p.V1441I missense 0.00001658
353. 237756813 c.4313C>A p.P1438H missense 0.00001658
354. 237608747 c.1217C>T p.S406L missense 0.00001658
355. 237756887 c.4387C>T p.R1463C missense 0.00001658
356. 237777577 c.5149G>T p.A1717S missense 0.00001658
357. 237870423 c.9755A>G p.H3252R missense 0.00001658
358. 237777449 c.5021A>G p.H1674R missense 0.00001658
359. 237608737 c.1207A>C p.I403L missense 0.00001658
360. 237777434 c.5006A>G p.N1669S missense 0.00001658
361. 237608704 c.1174A>G p.I392V missense 0.00001658
362. 237608788 c.1258C>T p.R420W missense 0.00001658
363. 237947932 c.12920G>A p.R4307H missense 0.00001658
364. 237788990 c.6052G>A p.D2018N missense 0.00001657
365. 237801663 c.6799C>T p.R2267C missense 0.00001657
366. 237777791 c.5363A>C p.K1788T missense 0.00001657
367. 237777706 c.5278C>T p.R1760W missense 0.00001657
368. 237754117 c.3985G>A p.G1329R missense 0.00001657
369. 237777524 c.5096G>A p.R1699H missense 0.00001657
370. 237754142 c.4010A>G p.Y1337C missense 0.00001657
371. 237659825 c.1976T>G p.I659S missense 0.00001657
372. 237754063 c.3931G>A p.A1311T missense 0.00001657
373. 237993882 c.14708A>G p.H4903R missense 0.00001657
374. 237806637 c.7232C>G p.A2411G missense 0.00001656
375. 237659873 c.2024A>G p.Y675C missense 0.00001656
376. 237754082 c.3950C>T p.T1317M missense 0.00001656
377. 237886504 c.10631C>G p.P3544R missense 0.00001656
378. 237659897 c.2048A>C p.E683A missense 0.00001656
379. 237813360 c.7696C>T p.R2566W missense 0.00001656
380. 237806720 c.7315G>A p.A2439T missense 0.00001656
381. 237730049 c.3397C>T p.R1133C missense 0.00001656
382. 237754087 c.3955G>A p.A1319T missense 0.00001656
383. 237730013 c.3361G>C p.G1121R missense 0.00001656
384. 237972204 c.14302G>A p.V4768I missense 0.00001656
385. 237801675 c.6811G>T p.G2271C missense 0.00001656
386. 237972246 c.14344A>G p.T4782A missense 0.00001656
387. 237550600 c.596G>T p.G199V missense 0.00001656
388. 237886488 c.10615G>A p.D3539N missense 0.00001656
389. 237659888 c.2039A>G p.D680G missense 0.00001656
390. 237664101 c.2294G>A p.S765N missense 0.00001656
391. 237806702 c.7297G>T p.V2433L missense 0.00001656
392. 237730023 c.3371C>T p.P1124L missense 0.00001656
393. 237806708 c.7303G>T p.V2435F missense 0.00001656
394. 237798284 c.6784C>G p.L2262V missense 0.00001640
395. 237863651 c.9251G>A p.R3084Q missense 0.00001603
396. 237774078 c.4700C>T p.S1567L missense 0.00001593
397. 237798279 c.6779C>T p.P2260L missense 0.00001592
398. 237798198 c.6698C>G p.A2233G missense 0.00001584
399. 237955442 c.13601C>T p.P4534L missense 0.00001574
400. 237870548 c.9880G>A p.A3294T missense 0.00001568
401. 237713899 c.3122G>A p.R1041Q missense 0.00001554
402. 237951329 c.13370A>G p.K4457R missense 0.00001537
403. 237951330 c.13371G>T p.K4457N missense 0.00001520
404. 237863659 c.9259C>T p.P3087S missense 0.00001509
405. 237948241 c.13229T>C p.V4410A missense 0.00001502
406. 237955445 c.13604C>T p.T4535M missense 0.00001501
407. 237693737 c.2833G>T p.A945S missense 0.00001476
408. 237656290 c.1864G>A p.G622R missense 0.00001463
409. 237863665 c.9265G>C p.G3089R missense 0.00001445
410. 237713886 c.3109C>G p.L1037V missense 0.00001431
411. 237819148 c.7993G>A p.A2665T missense 0.00001412
412. 237713883 c.3106A>T p.T1036S missense 0.00001410
413. 237713884 c.3107C>G p.T1036S missense 0.00001408
414. 237870536 c.9868A>T p.I3290F missense 0.00001386
415. 237819151 c.7996C>G p.L2666V missense 0.00001371
416. 237693767 c.2863G>A p.E955K missense 0.00001371
417. 237868638 c.9575G>T p.R3192I missense 0.00001370
418. 237693765 c.2861A>G p.D954G missense 0.00001351
419. 237693755 c.2851G>A p.G951S missense 0.00001349
420. 237868589 c.9526G>T p.D3176Y missense 0.00001340
421. 237868599 c.9536A>G p.N3179S missense 0.00001340
422. 237666609 c.2417G>A p.G806E missense 0.00001338
423. 237948229 c.13217T>A p.M4406K missense 0.00001338
424. 237713869 c.3092G>A p.R1031H missense 0.00001333
425. 237868581 c.9518C>T p.T3173I missense 0.00001325
426. 237841410 c.8893A>G p.K2965E missense 0.00001320
427. 237713848 c.3071T>C p.V1024A missense 0.00001315
428. 237774092 c.4714A>G p.K1572E missense 0.00001314
429. 237713851 c.3074A>G p.K1025R missense 0.00001313
430. 237863680 c.9280A>G p.I3094V missense 0.00001310
431. 237868572 c.9509T>A p.F3170Y missense 0.00001310
432. 237868571 c.9508T>A p.F3170I missense 0.00001307
433. 237948225 c.13213C>T p.L4405F missense 0.00001301
434. 237863764 c.9364A>C p.I3122L missense 0.00001297
435. 237868520 c.9457T>C p.S3153P missense 0.00001286
436. 237811752 c.7351G>A p.V2451M missense 0.00001280
437. 237868529 c.9466G>A p.G3156R missense 0.00001277
438. 237863684 c.9284A>G p.N3095S missense 0.00001276
439. 237791125 c.6185T>C p.I2062T missense 0.00001275
440. 237774096 c.4718G>A p.S1573N missense 0.00001261
441. 237955456 c.13615A>C p.S4539R missense 0.00001255
442. 237850768 c.9031C>A p.L3011I missense 0.00001252
443. 237841403 c.8886C>A p.F2962L missense 0.00001248
444. 237841396 c.8879T>C p.I2960T missense 0.00001206
445. 237875116 c.10302T>A p.D3434E missense 0.00001199
446. 237811902 c.7501T>G p.S2501A missense 0.00001182
447. 237841392 c.8875G>C p.E2959Q missense 0.00001176
448. 237850787 c.9050A>G p.H3017R missense 0.00001173
449. 237948210 c.13198G>T p.A4400S missense 0.00001172
450. 237819179 c.8024C>G p.A2675G missense 0.00001158
451. 237811774 c.7373C>T p.A2458V missense 0.00001153
452. 237811893 c.7492G>A p.A2498T missense 0.00001152
453. 237951358 c.13399A>G p.T4467A missense 0.00001146
454. 237666615 c.2423A>G p.H808R missense 0.00001141
455. 237774110 c.4732C>T p.P1578S missense 0.00001137
456. 237791139 c.6199G>A p.V2067I missense 0.00001126
457. 237946986 c.11974A>C p.N3992H missense 0.00001124
458. 237843819 c.8959A>G p.S2987G missense 0.00001121
459. 237811783 c.7382G>T p.C2461F missense 0.00001120
460. 237948203 c.13191T>A p.N4397K missense 0.00001110
461. 237843816 c.8956G>A p.A2986T missense 0.00001109
462. 237841353 c.8836G>A p.G2946S missense 0.00001106
463. 237843814 c.8954C>G p.A2985G missense 0.00001099
464. 237538093 c.461C>G p.T154R missense 0.00001097
465. 237811876 c.7475T>C p.F2492S missense 0.00001096
466. 237774117 c.4739C>T p.P1580L missense 0.00001090
467. 237774117 c.4739C>A p.P1580Q missense 0.00001090
468. 237829883 c.8508C>A p.D2836E missense 0.00001090
469. 237951365 c.13406G>C p.R4469T missense 0.00001089
470. 237811803 c.7402A>G p.M2468V missense 0.00001087
471. 237872847 c.10210A>G p.I3404V missense 0.00001085
472. 237819193 c.8038T>C p.Y2680H missense 0.00001076
473. 237841366 c.8849A>G p.K2950R missense 0.00001073
474. 237961356 c.13976A>G p.E4659G missense 0.00001072
475. 237841372 c.8855A>G p.E2952G missense 0.00001071
476. 237829881 c.8506G>A p.D2836N missense 0.00001070
477. 237811854 c.7453C>T p.L2485F missense 0.00001069
478. 237811859 c.7458T>G p.H2486Q missense 0.00001069
479. 237951368 c.13409A>G p.Y4470C missense 0.00001068
480. 237811839 c.7438G>T p.V2480F missense 0.00001067
481. 237863735 c.9335T>C p.I3112T missense 0.00001064
482. 237863736 c.9336T>G p.I3112M missense 0.00001064
483. 237819196 c.8041A>T p.M2681L missense 0.00001057
484. 237872841 c.10204G>A p.V3402M missense 0.00001055
485. 237961365 c.13985G>T p.G4662V missense 0.00001051
486. 237804199 c.7118A>G p.D2373G missense 0.00001041
487. 237774128 c.4750C>T p.P1584S missense 0.00001033
488. 237774129 c.4751C>T p.P1584L missense 0.00001032
489. 237955478 c.13637G>A p.S4546N missense 0.00001027
490. 237774274 c.4896C>G p.I1632M missense 0.00001027
491. 237870507 c.9839T>C p.I3280T missense 0.00001024
492. 237961377 c.13997T>C p.I4666T missense 0.00001023
493. 237755152 c.4274C>T p.T1425M missense 0.00001021
494. 237819203 c.8048C>T p.S2683L missense 0.00001020
495. 237872829 c.10192A>T p.M3398L missense 0.00001019
496. 237538033 c.401C>G p.S134C missense 0.00001019
497. 237774131 c.4753C>T p.R1585C missense 0.00001019
498. 237961388 c.14008C>G p.L4670V missense 0.00001011
499. 237872188 c.9932A>G p.K3311R missense 0.00001011
500. 237872818 c.10181A>C p.E3394A missense 0.00001006
501. 237804204 c.7123G>A p.E2375K missense 0.00000997
502. 237948187 c.13175A>G p.K4392R missense 0.00000994
503. 237961406 c.14026G>T p.A4676S missense 0.00000990
504. 237755146 c.4268C>T p.T1423M missense 0.00000990
505. 237666627 c.2435A>G p.K812R missense 0.00000987
506. 237829861 c.8486G>A p.S2829N missense 0.00000978
507. 237666629 c.2437T>G p.F813V missense 0.00000970
508. 237829852 c.8477T>C p.I2826T missense 0.00000965
509. 237755141 c.4263G>A p.M1421I missense 0.00000965
510. 237948181 c.13169A>G p.Q4390R missense 0.00000962
511. 237791160 c.6220G>T p.V2074F missense 0.00000958
512. 237656327 c.1901A>G p.D634G missense 0.00000958
513. 237774147 c.4769T>A p.F1590Y missense 0.00000956
514. 237755139 c.4261A>G p.M1421V missense 0.00000956
515. 237838033 c.8717G>T p.G2906V missense 0.00000953
516. 237951412 c.13453A>G p.I4485V missense 0.00000948
517. 237951416 c.13457C>G p.A4486G missense 0.00000947
518. 237872218 c.9962C>T p.P3321L missense 0.00000945
519. 237947043 c.12031G>C p.E4011Q missense 0.00000945
520. 237791164 c.6224T>C p.I2075T missense 0.00000939
521. 237765405 c.4677A>T p.R1559S missense 0.00000934
522. 237765407 c.4679T>C p.I1560T missense 0.00000934
523. 237774164 c.4786T>A p.W1596R missense 0.00000934
524. 237732617 c.3596A>G p.D1199G missense 0.00000932
525. 237872223 c.9967A>G p.M3323V missense 0.00000928
526. 237774176 c.4798C>T p.P1600S missense 0.00000922
527. 237774177 c.4799C>T p.P1600L missense 0.00000920
528. 237755128 c.4250A>G p.Y1417C missense 0.00000919
529. 237774181 c.4803C>G p.N1601K missense 0.00000917
530. 237780625 c.5755C>T p.R1919W missense 0.00000913
531. 237880504 c.10330G>C p.V3444L missense 0.00000913
532. 237794741 c.6455A>G p.N2152S missense 0.00000912
533. 237753299 c.3805G>C p.E1269Q missense 0.00000910
534. 237753955 c.3823G>A p.G1275S missense 0.00000908
535. 237753961 c.3829A>G p.I1277V missense 0.00000907
536. 237753968 c.3836G>C p.S1279T missense 0.00000906
537. 237753971 c.3839C>G p.S1280C missense 0.00000906
538. 237870492 c.9824C>G p.T3275R missense 0.00000905
539. 237774231 c.4853T>C p.L1618S missense 0.00000904
540. 237774229 c.4851G>T p.W1617C missense 0.00000903
541. 237774209 c.4831A>G p.I1611V missense 0.00000903
542. 237872238 c.9982A>G p.K3328E missense 0.00000901
543. 237774218 c.4840C>A p.R1614S missense 0.00000901
544. 237955496 c.13655A>G p.H4552R missense 0.00000900
545. 237753296 c.3802A>G p.I1268V missense 0.00000899
546. 237804264 c.7183T>A p.L2395M missense 0.00000897
547. 237947088 c.12076T>G p.L4026V missense 0.00000896
548. 237947089 c.12077T>G p.L4026W missense 0.00000895
549. 237819251 c.8096G>A p.G2699E missense 0.00000895
550. 237880658 c.10484G>T p.R3495L missense 0.00000892
551. 237778111 c.5683C>A p.Q1895K missense 0.00000892
552. 237791175 c.6235G>A p.E2079K missense 0.00000890
553. 237753294 c.3800A>T p.H1267L missense 0.00000890
554. 237804256 c.7175A>G p.Y2392C missense 0.00000889
555. 237804246 c.7165A>C p.M2389L missense 0.00000889
556. 237780631 c.5761C>T p.R1921W missense 0.00000889
557. 237838132 c.8816A>G p.Y2939C missense 0.00000888
558. 237865343 c.9433A>T p.S3145C missense 0.00000887
559. 237947095 c.12083C>T p.S4028L missense 0.00000886
560. 237656353 c.1927T>A p.L643I missense 0.00000885
561. 237670031 c.2635G>C p.E879Q missense 0.00000884
562. 237865340 c.9430A>G p.K3144E missense 0.00000883
563. 237656363 c.1937C>T p.T646I missense 0.00000878
564. 237666642 c.2450C>T p.P817L missense 0.00000876
565. 237789101 c.6163T>C p.S2055P missense 0.00000876
566. 237754280 c.4148G>A p.R1383H missense 0.00000875
567. 237670037 c.2641A>G p.I881V missense 0.00000873
568. 237802500 c.7114C>A p.L2372I missense 0.00000870
569. 237802500 c.7114C>T p.L2372F missense 0.00000870
570. 237838122 c.8806G>A p.A2936T missense 0.00000869
571. 237880534 c.10360C>T p.R3454C missense 0.00000869
572. 237789096 c.6158A>G p.K2053R missense 0.00000868
573. 237802497 c.7111A>G p.T2371A missense 0.00000867
574. 237897055 c.11090A>G p.K3697R missense 0.00000867
575. 237872263 c.10007A>C p.E3336A missense 0.00000866
576. 237754018 c.3886A>G p.N1296D missense 0.00000865
577. 237880645 c.10471C>G p.L3491V missense 0.00000865
578. 237670041 c.2645G>A p.R882K missense 0.00000864
579. 237872265 c.10009G>A p.E3337K missense 0.00000864
580. 237838117 c.8801A>G p.D2934G missense 0.00000864
581. 237802494 c.7108A>G p.K2370E missense 0.00000864
582. 237780641 c.5771C>G p.A1924G missense 0.00000863
583. 237754020 c.3888C>A p.N1296K missense 0.00000862
584. 237872268 c.10012G>A p.D3338N missense 0.00000862
585. 237711742 c.2918C>G p.T973R missense 0.00000862
586. 237872270 c.10014C>G p.D3338E missense 0.00000861
587. 237947221 c.12209C>T p.A4070V missense 0.00000860
588. 237947221 c.12209C>A p.A4070E missense 0.00000860
589. 237880547 c.10373G>A p.R3458Q missense 0.00000860
590. 237897012 c.11047G>A p.E3683K missense 0.00000859
591. 237778082 c.5654G>C p.G1885A missense 0.00000859
592. 237897033 c.11068G>C p.A3690P missense 0.00000858
593. 237947229 c.12217G>A p.D4073N missense 0.00000857
594. 237670046 c.2650A>G p.K884E missense 0.00000857
595. 237947223 c.12211G>A p.E4071K missense 0.00000857
596. 237791185 c.6245G>A p.R2082K missense 0.00000857
597. 237947230 c.12218A>G p.D4073G missense 0.00000856
598. 237789088 c.6150T>G p.S2050R missense 0.00000856
599. 237995926 c.14883G>T p.Q4961H missense 0.00000856
600. 237729870 c.3218C>A p.A1073D missense 0.00000856
601. 237872280 c.10024G>C p.A3342P missense 0.00000855
602. 237947248 c.12236A>G p.D4079G missense 0.00000855
603. 237765349 c.4621C>T p.P1541S missense 0.00000854
604. 237732587 c.3566A>G p.E1189G missense 0.00000854
605. 237947261 c.12249C>A p.F4083L missense 0.00000854
606. 237947128 c.12116G>T p.G4039V missense 0.00000854
607. 237947188 c.12176C>T p.T4059M missense 0.00000854
608. 237872389 c.10133A>C p.D3378A missense 0.00000853
609. 237947269 c.12257G>A p.R4086H missense 0.00000853
610. 237838075 c.8759G>A p.R2920Q missense 0.00000852
611. 237872283 c.10027G>C p.E3343Q missense 0.00000852
612. 237947179 c.12167A>G p.K4056R missense 0.00000852
613. 237947175 c.12163C>G p.H4055D missense 0.00000851
614. 237670052 c.2656G>C p.A886P missense 0.00000851
615. 237711756 c.2932C>G p.P978A missense 0.00000850
616. 237551452 c.742C>T p.P248S missense 0.00000850
617. 237947172 c.12160A>G p.S4054G missense 0.00000850
618. 237754028 c.3896T>G p.I1299S missense 0.00000850
619. 237664020 c.2213C>G p.A738G missense 0.00000850
620. 237817704 c.7955T>C p.L2652P missense 0.00000849
621. 237670055 c.2659G>A p.E887K missense 0.00000849
622. 237880572 c.10398T>G p.I3466M missense 0.00000849
623. 237872291 c.10035G>C p.R3345S missense 0.00000849
624. 237947154 c.12142T>G p.F4048V missense 0.00000849
625. 237666651 c.2459C>G p.A820G missense 0.00000848
626. 237604776 c.1163A>G p.Q388R missense 0.00000848
627. 237794805 c.6519G>T p.E2173D missense 0.00000847
628. 237947295 c.12283G>A p.G4095S missense 0.00000847
629. 237754031 c.3899T>C p.M1300T missense 0.00000847
630. 237995912 c.14869T>A p.C4957S missense 0.00000847
631. 237947800 c.12788G>A p.S4263N missense 0.00000847
632. 237936822 c.11649A>T p.E3883D missense 0.00000847
633. 237880579 c.10405G>T p.A3469S missense 0.00000847
634. 237872295 c.10039G>A p.D3347N missense 0.00000847
635. 237754030 c.3898A>C p.M1300L missense 0.00000847
636. 237947775 c.12763C>T p.L4255F missense 0.00000846
637. 237604775 c.1162C>A p.Q388K missense 0.00000846
638. 237711765 c.2941A>G p.M981V missense 0.00000846
639. 237948047 c.13035T>A p.D4345E missense 0.00000846
640. 237880618 c.10444G>T p.A3482S missense 0.00000846
641. 237551447 c.737C>T p.T246I missense 0.00000846
642. 237948034 c.13022A>C p.E4341A missense 0.00000845
643. 237947758 c.12746G>C p.R4249T missense 0.00000845
644. 237753275 c.3781G>T p.V1261F missense 0.00000845
645. 237778069 c.5641G>A p.E1881K missense 0.00000845
646. 237754032 c.3900G>A p.M1300I missense 0.00000845
647. 237947763 c.12751A>G p.N4251D missense 0.00000845
648. 237947823 c.12811G>A p.V4271I missense 0.00000845
649. 237872301 c.10045T>A p.S3349T missense 0.00000845
650. 237791194 c.6254T>C p.F2085S missense 0.00000843
651. 237604772 c.1159A>C p.I387L missense 0.00000843
652. 237947829 c.12817A>G p.K4273E missense 0.00000843
653. 237754034 c.3902T>G p.F1301C missense 0.00000843
654. 237664025 c.2218A>G p.T740A missense 0.00000842
655. 237948020 c.13008C>A p.D4336E missense 0.00000842
656. 237791376 c.6436T>G p.L2146V missense 0.00000842
657. 237551438 c.728A>G p.E243G missense 0.00000842
658. 237551395 c.685A>G p.I229V missense 0.00000841
659. 237551431 c.721A>G p.M241V missense 0.00000841
660. 237936868 c.11695G>A p.D3899N missense 0.00000841
661. 237666656 c.2464T>G p.C822G missense 0.00000841
662. 237711775 c.2951G>A p.S984N missense 0.00000841
663. 237802464 c.7078G>A p.D2360N missense 0.00000840
664. 237551429 c.719A>G p.H240R missense 0.00000840
665. 237947310 c.12298G>A p.V4100I missense 0.00000840
666. 237754039 c.3907C>T p.R1303C missense 0.00000839
667. 237666657 c.2465G>A p.C822Y missense 0.00000839
668. 237965199 c.14134G>T p.V4712F missense 0.00000839
669. 237664028 c.2221G>T p.V741L missense 0.00000839
670. 237817689 c.7940G>A p.G2647D missense 0.00000839
671. 237758946 c.4585A>C p.T1529P missense 0.00000839
672. 237604767 c.1154G>C p.G385A missense 0.00000839
673. 237955531 c.13690A>G p.S4564G missense 0.00000839
674. 237947712 c.12700G>A p.A4234T missense 0.00000838
675. 237817685 c.7936T>A p.W2646R missense 0.00000838
676. 237870266 c.9598A>G p.N3200D missense 0.00000838
677. 237664029 c.2222T>C p.V741A missense 0.00000838
678. 237791370 c.6430C>T p.R2144C missense 0.00000838
679. 237957289 c.13905C>G p.I4635M missense 0.00000837
680. 237711796 c.2972C>T p.S991L missense 0.00000837
681. 237817683 c.7934T>G p.F2645C missense 0.00000837
682. 237965183 c.14118G>C p.Q4706H missense 0.00000837
683. 237802449 c.7063G>A p.E2355K missense 0.00000837
684. 237957249 c.13865C>T p.S4622L missense 0.00000837
685. 237947847 c.12835A>G p.M4279V missense 0.00000837
686. 237758938 c.4577A>T p.E1526V missense 0.00000837
687. 237872329 c.10073A>G p.E3358G missense 0.00000837
688. 237711889 c.3065A>G p.Q1022R missense 0.00000837
689. 237870268 c.9600T>A p.N3200K missense 0.00000837
690. 237947707 c.12695G>A p.R4232K missense 0.00000837
691. 237893612 c.10891A>G p.T3631A missense 0.00000836
692. 237947853 c.12841A>T p.T4281S missense 0.00000836
693. 237802446 c.7060G>T p.A2354S missense 0.00000836
694. 237540713 c.554G>C p.S185T missense 0.00000836
695. 237948100 c.13088T>C p.L4363P missense 0.00000836
696. 237580411 c.836C>T p.T279M missense 0.00000836
697. 237580351 c.776C>A p.T259N missense 0.00000836
698. 237957291 c.13907A>G p.N4636S missense 0.00000836
699. 237881796 c.10529G>A p.R3510H missense 0.00000836
700. 237893609 c.10888G>C p.E3630Q missense 0.00000836
701. 237947995 c.12983C>T p.A4328V missense 0.00000836
702. 237893609 c.10888G>A p.E3630K missense 0.00000836
703. 237957284 c.13900G>A p.V4634I missense 0.00000836
704. 237580350 c.775A>G p.T259A missense 0.00000836
705. 237948099 c.13087C>G p.L4363V missense 0.00000836
706. 237957259 c.13875T>G p.D4625E missense 0.00000836
707. 237789062 c.6124A>C p.K2042Q missense 0.00000835
708. 237881789 c.10522A>G p.I3508V missense 0.00000835
709. 237778028 c.5600A>T p.E1867V missense 0.00000835
710. 237756934 c.4434A>C p.E1478D missense 0.00000835
711. 237753254 c.3760A>G p.R1254G missense 0.00000835
712. 237617822 c.1424A>G p.K475R missense 0.00000835
713. 237817678 c.7929G>C p.K2643N missense 0.00000835
714. 237802347 c.6961G>T p.V2321L missense 0.00000835
715. 237787161 c.6013A>G p.T2005A missense 0.00000835
716. 237802419 c.7033G>A p.A2345T missense 0.00000834
717. 237955558 c.13717C>A p.R4573S missense 0.00000834
718. 237802363 c.6977G>A p.R2326Q missense 0.00000834
719. 237947863 c.12851T>C p.F4284S missense 0.00000834
720. 237619918 c.1495C>T p.L499F missense 0.00000834
721. 237617821 c.1423A>C p.K475Q missense 0.00000834
722. 237947991 c.12979G>C p.V4327L missense 0.00000834
723. 237955553 c.13712C>T p.T4571M missense 0.00000834
724. 237802425 c.7039A>G p.M2347V missense 0.00000834
725. 237895350 c.10940C>G p.P3647R missense 0.00000834
726. 237947866 c.12854C>T p.S4285L missense 0.00000834
727. 237890472 c.10811G>T p.R3604L missense 0.00000834
728. 237955559 c.13718G>A p.R4573H missense 0.00000834
729. 237778003 c.5575G>A p.E1859K missense 0.00000833
730. 237753250 c.3756C>G p.S1252R missense 0.00000833
731. 237732535 c.3514A>T p.T1172S missense 0.00000833
732. 237791219 c.6279C>A p.D2093E missense 0.00000833
733. 237802380 c.6994G>T p.G2332C missense 0.00000833
734. 237919660 c.11218G>T p.V3740L missense 0.00000833
735. 237791319 c.6379C>G p.R2127G missense 0.00000833
736. 237732536 c.3515C>T p.T1172I missense 0.00000833
737. 237604748 c.1135G>T p.V379L missense 0.00000833
738. 237619922 c.1499A>C p.E500A missense 0.00000833
739. 237802398 c.7012G>C p.E2338Q missense 0.00000833
740. 237947871 c.12859T>C p.Y4287H missense 0.00000833
741. 237778001 c.5573A>G p.E1858G missense 0.00000833
742. 237802383 c.6997C>A p.P2333T missense 0.00000833
743. 237732538 c.3517A>G p.M1173V missense 0.00000833
744. 237754247 c.4115A>G p.N1372S missense 0.00000832
745. 237732533 c.3512A>G p.H1171R missense 0.00000832
746. 237947684 c.12672G>C p.E4224D missense 0.00000832
747. 237758902 c.4541C>T p.A1514V missense 0.00000832
748. 237580375 c.800T>G p.V267G missense 0.00000832
749. 237617805 c.1407T>G p.H469Q missense 0.00000832
750. 237895446 c.11036A>G p.K3679R missense 0.00000832
751. 237617717 c.1319C>A p.A440E missense 0.00000832
752. 237604746 c.1133A>C p.D378A missense 0.00000832
753. 237619932 c.1509C>A p.D503E missense 0.00000832
754. 237777970 c.5542C>T p.P1848S missense 0.00000832
755. 237777378 c.4950G>C p.L1650F missense 0.00000832
756. 237870450 c.9782C>T p.A3261V missense 0.00000832
757. 237580383 c.808C>T p.H270Y missense 0.00000832
758. 237617716 c.1318G>A p.A440T missense 0.00000832
759. 237632472 c.1693C>G p.L565V missense 0.00000832
760. 237580363 c.788A>C p.E263A missense 0.00000832
761. 237732529 c.3508G>A p.E1170K missense 0.00000832
762. 237870452 c.9784G>A p.E3262K missense 0.00000832
763. 237817665 c.7916A>G p.H2639R missense 0.00000832
764. 237580389 c.814C>T p.R272C missense 0.00000832
765. 237619933 c.1510C>T p.R504C missense 0.00000832
766. 237969438 c.14153C>A p.S4718Y missense 0.00000832
767. 237895444 c.11034G>T p.E3678D missense 0.00000832
768. 237580371 c.796G>T p.A266S missense 0.00000832
769. 237947880 c.12868A>T p.I4290F missense 0.00000832
770. 237780752 c.5882A>C p.K1961T missense 0.00000832
771. 237632395 c.1616C>T p.A539V missense 0.00000832
772. 237619931 c.1508A>G p.D503G missense 0.00000832
773. 237617743 c.1345A>G p.I449V missense 0.00000831
774. 237870290 c.9622A>G p.I3208V missense 0.00000831
775. 237711862 c.3038G>T p.R1013L missense 0.00000831
776. 237777386 c.4958T>G p.F1653C missense 0.00000831
777. 237791272 c.6332T>C p.V2111A missense 0.00000831
778. 237791235 c.6295G>A p.V2099I missense 0.00000831
779. 237947974 c.12962G>T p.G4321V missense 0.00000831
780. 237947673 c.12661A>G p.S4221G missense 0.00000831
781. 237919639 c.11197G>A p.D3733N missense 0.00000831
782. 237791296 c.6356T>C p.L2119P missense 0.00000831
783. 237732524 c.3503T>C p.M1168T missense 0.00000831
784. 237617779 c.1381G>T p.G461C missense 0.00000831
785. 237754048 c.3916A>G p.M1306V missense 0.00000831
786. 237870293 c.9625C>A p.P3209T missense 0.00000831
787. 237890408 c.10747A>C p.K3583Q missense 0.00000831
788. 237780733 c.5863G>T p.A1955S missense 0.00000831
789. 237791280 c.6340G>C p.E2114Q missense 0.00000831
790. 237777941 c.5513A>G p.D1838G missense 0.00000831
791. 237947381 c.12369G>C p.E4123D missense 0.00000831
792. 237787148 c.6000T>G p.H2000Q missense 0.00000831
793. 237617734 c.1336G>A p.D446N missense 0.00000831
794. 237787092 c.5944G>C p.D1982H missense 0.00000831
795. 237729896 c.3244G>A p.G1082R missense 0.00000831
796. 237947676 c.12664G>A p.E4222K missense 0.00000831
797. 237711861 c.3037C>T p.R1013W missense 0.00000831
798. 237947670 c.12658G>A p.E4220K missense 0.00000831
799. 237777963 c.5535G>T p.L1845F missense 0.00000831
800. 237919624 c.11182C>G p.Q3728E missense 0.00000831
801. 237777916 c.5488A>G p.I1830V missense 0.00000831
802. 237617777 c.1379T>C p.I460T missense 0.00000830
803. 237947659 c.12647C>T p.A4216V missense 0.00000830
804. 237895382 c.10972A>C p.T3658P missense 0.00000830
805. 237780691 c.5821C>A p.R1941S missense 0.00000830
806. 237777850 c.5422G>T p.D1808Y missense 0.00000830
807. 237780694 c.5824T>C p.F1942L missense 0.00000830
808. 237837411 c.8606C>T p.P2869L missense 0.00000830
809. 237895385 c.10975A>C p.K3659Q missense 0.00000830
810. 237632457 c.1678A>G p.S560G missense 0.00000830
811. 237796993 c.6671A>C p.N2224T missense 0.00000830
812. 237837465 c.8660A>C p.E2887A missense 0.00000830
813. 237711852 c.3028G>T p.D1010Y missense 0.00000830
814. 237711835 c.3011A>C p.H1004P missense 0.00000830
815. 237664049 c.2242C>A p.L748M missense 0.00000830
816. 237969457 c.14172G>C p.W4724C missense 0.00000830
817. 237895383 c.10973C>G p.T3658S missense 0.00000830
818. 237632419 c.1640A>C p.N547T missense 0.00000830
819. 237777877 c.5449C>G p.L1817V missense 0.00000830
820. 237732470 c.3449A>G p.E1150G missense 0.00000830
821. 237620023 c.1600T>C p.Y534H missense 0.00000830
822. 237666675 c.2483C>A p.P828Q missense 0.00000830
823. 237711852 c.3028G>A p.D1010N missense 0.00000830
824. 237711837 c.3013A>G p.N1005D missense 0.00000830
825. 237619957 c.1534G>C p.A512P missense 0.00000830
826. 237617768 c.1370A>G p.Q457R missense 0.00000830
827. 237789043 c.6105G>C p.K2035N missense 0.00000830
828. 237753132 c.3638G>C p.G1213A missense 0.00000830
829. 237777400 c.4972C>G p.L1658V missense 0.00000830
830. 237895415 c.11005C>T p.L3669F missense 0.00000830
831. 237732481 c.3460C>T p.R1154C missense 0.00000830
832. 237758865 c.4504A>G p.N1502D missense 0.00000830
833. 237617744 c.1346T>G p.I449R missense 0.00000830
834. 237604728 c.1115T>A p.L372H missense 0.00000830
835. 237632457 c.1678A>T p.S560C missense 0.00000830
836. 237947904 c.12892G>A p.V4298M missense 0.00000830
837. 237756794 c.4294A>C p.I1432L missense 0.00000830
838. 237753232 c.3738T>A p.D1246E missense 0.00000830
839. 237753135 c.3641G>A p.R1214K missense 0.00000830
840. 237711822 c.2998G>T p.A1000S missense 0.00000830
841. 237754181 c.4049C>T p.A1350V missense 0.00000829
842. 237969558 c.14273C>T p.S4758F missense 0.00000829
843. 237777836 c.5408G>T p.S1803I missense 0.00000829
844. 237777815 c.5387C>T p.T1796I missense 0.00000829
845. 237608713 c.1183C>T p.H395Y missense 0.00000829
846. 237754150 c.4018G>C p.D1340H missense 0.00000829
847. 237604683 c.1070G>A p.G357D missense 0.00000829
848. 237608779 c.1249C>G p.R417G missense 0.00000829
849. 237777586 c.5158A>G p.M1720V missense 0.00000829
850. 237619995 c.1572G>C p.E524D missense 0.00000829
851. 237777488 c.5060A>C p.Y1687S missense 0.00000829
852. 237756897 c.4397C>T p.T1466I missense 0.00000829
853. 237870341 c.9673G>A p.G3225S missense 0.00000829
854. 237756884 c.4384G>A p.V1462I missense 0.00000829
855. 237947913 c.12901G>C p.V4301L missense 0.00000829
856. 237777689 c.5261G>C p.S1754T missense 0.00000829
857. 237870418 c.9750G>T p.W3250C missense 0.00000829
858. 237777635 c.5207T>G p.I1736S missense 0.00000829
859. 237586492 c.949A>G p.M317V missense 0.00000829
860. 237777582 c.5154G>C p.R1718S missense 0.00000829
861. 237942017 c.11827G>A p.A3943T missense 0.00000829
862. 237777541 c.5113C>G p.L1705V missense 0.00000829
863. 237608737 c.1207A>G p.I403V missense 0.00000829
864. 237947415 c.12403C>T p.R4135C missense 0.00000829
865. 237777418 c.4990G>T p.V1664F missense 0.00000829
866. 237813199 c.7535T>C p.M2512T missense 0.00000829
867. 237753165 c.3671T>C p.L1224S missense 0.00000829
868. 237777440 c.5012G>A p.R1671Q missense 0.00000829
869. 237777842 c.5414A>G p.H1805R missense 0.00000829
870. 237777832 c.5404G>A p.G1802S missense 0.00000829
871. 237789030 c.6092C>T p.S2031F missense 0.00000829
872. 237608767 c.1237T>C p.S413P missense 0.00000829
873. 237753171 c.3677A>G p.Y1226C missense 0.00000829
874. 237817640 c.7891G>T p.G2631C missense 0.00000829
875. 237604691 c.1078G>A p.V360I missense 0.00000829
876. 237777604 c.5176A>G p.I1726V missense 0.00000829
877. 237947439 c.12427A>G p.K4143E missense 0.00000829
878. 237921026 c.11275C>A p.L3759M missense 0.00000829
879. 237620003 c.1580A>G p.K527R missense 0.00000829
880. 237586483 c.940_942delCTT p.Leu316del inframe 0.00000829
881. 237777494 c.5066T>C p.I1689T missense 0.00000829
882. 237982395 c.14493C>G p.I4831M missense 0.00000829
883. 237711802 c.2978A>G p.E993G missense 0.00000829
884. 237754204 c.4072C>T p.R1358C missense 0.00000829
885. 237608702 c.1172C>G p.A391G missense 0.00000829
886. 237586495 c.952G>A p.D318N missense 0.00000829
887. 237777582 c.5154G>T p.R1718S missense 0.00000829
888. 237777553 c.5125A>C p.I1709L missense 0.00000829
889. 237813193 c.7529C>T p.T2510I missense 0.00000829
890. 237921001 c.11250A>C p.E3750D missense 0.00000829
891. 237756840 c.4340C>T p.T1447I missense 0.00000829
892. 237777835 c.5407A>T p.S1803C missense 0.00000829
893. 237777838 c.5410C>T p.L1804F missense 0.00000829
894. 237608770 c.1240C>T p.R414C missense 0.00000829
895. 237777844 c.5416G>A p.A1806T missense 0.00000829
896. 237777653 c.5225A>G p.E1742G missense 0.00000829
897. 237604705 c.1092A>C p.Q364H missense 0.00000829
898. 237619982 c.1559G>A p.R520Q missense 0.00000829
899. 237921044 c.11293A>G p.I3765V missense 0.00000829
900. 237604637 c.1024G>A p.V342M missense 0.00000829
901. 237837434 c.8629C>A p.L2877M missense 0.00000829
902. 237620009 c.1586T>C p.I529T missense 0.00000829
903. 237947601 c.12589A>G p.I4197V missense 0.00000829
904. 237711818 c.2994G>T p.K998N missense 0.00000829
905. 237753198 c.3704G>A p.G1235D missense 0.00000829
906. 237777811 c.5383C>A p.L1795M missense 0.00000829
907. 237754211 c.4079A>G p.D1360G missense 0.00000829
908. 237754064 c.3932C>T p.A1311V missense 0.00000829
909. 237870406 c.9738G>A p.M3246I missense 0.00000829
910. 237753190 c.3696A>T p.L1232F missense 0.00000829
911. 237777583 c.5155C>T p.L1719F missense 0.00000829
912. 237494280 c.271G>C p.G91R missense 0.00000829
913. 237813195 c.7531G>A p.D2511N missense 0.00000829
914. 237947428 c.12416T>C p.M4139T missense 0.00000829
915. 237777439 c.5011C>T p.R1671W missense 0.00000829
916. 237756861 c.4361A>G p.D1454G missense 0.00000829
917. 237664067 c.2260G>T p.V754F missense 0.00000829
918. 237777574 c.5146A>T p.T1716S missense 0.00000829
919. 237586408 c.865A>G p.I289V missense 0.00000829
920. 237923143 c.11393A>C p.Q3798P missense 0.00000829
921. 237777530 c.5102G>C p.G1701A missense 0.00000829
922. 237923091 c.11341C>T p.L3781F missense 0.00000829
923. 237837462 c.8657G>C p.R2886T missense 0.00000829
924. 237796978 c.6656G>A p.S2219N missense 0.00000829
925. 237789015 c.6077G>C p.R2026T missense 0.00000828
926. 237494205 c.196A>G p.T66A missense 0.00000828
927. 237777707 c.5279G>A p.R1760Q missense 0.00000828
928. 237729939 c.3287T>C p.V1096A missense 0.00000828
929. 237666705 c.2513G>A p.R838Q missense 0.00000828
930. 237801727 c.6863T>C p.I2288T missense 0.00000828
931. 237550633 c.629C>T p.T210I missense 0.00000828
932. 237813223 c.7559T>C p.L2520P missense 0.00000828
933. 237664107 c.2300C>T p.S767L missense 0.00000828
934. 237972324 c.14422G>A p.D4808N missense 0.00000828
935. 237550629 c.625C>G p.Q209E missense 0.00000828
936. 237813361 c.7697G>T p.R2566L missense 0.00000828
937. 237806717 c.7312A>C p.I2438L missense 0.00000828
938. 237664127 c.2320C>A p.P774T missense 0.00000828
939. 237494263 c.254C>T p.T85I missense 0.00000828
940. 237754123 c.3991A>C p.K1331Q missense 0.00000828
941. 237777785 c.5357T>C p.I1786T missense 0.00000828
942. 237870371 c.9703A>G p.M3235V missense 0.00000828
943. 237813370 c.7706T>C p.I2569T missense 0.00000828
944. 237586427 c.884T>C p.F295S missense 0.00000828
945. 237813298 c.7634T>C p.I2545T missense 0.00000828
946. 237993852 c.14678T>C p.I4893T missense 0.00000828
947. 237664160 c.2353G>A p.D785N missense 0.00000828
948. 237806687 c.7282C>T p.P2428S missense 0.00000828
949. 237659950 c.2101G>C p.E701Q missense 0.00000828
950. 237777730 c.5302T>C p.F1768L missense 0.00000828
951. 237659878 c.2029T>A p.L677M missense 0.00000828
952. 237494211 c.202G>C p.V68L missense 0.00000828
953. 237777713 c.5285A>C p.Q1762P missense 0.00000828
954. 237754103 c.3971G>C p.G1324A missense 0.00000828
955. 237729984 c.3332G>C p.G1111A missense 0.00000828
956. 237729918 c.3266G>A p.R1089H missense 0.00000828
957. 237886504 c.10631C>T p.P3544L missense 0.00000828
958. 237586422 c.879G>C p.Q293H missense 0.00000828
959. 237870347 c.9679C>T p.R3227C missense 0.00000828
960. 237666734 c.2542C>T p.R848C missense 0.00000828
961. 237659930 c.2081G>A p.R694Q missense 0.00000828
962. 237813361 c.7697G>C p.R2566P missense 0.00000828
963. 237801748 c.6884G>A p.G2295E missense 0.00000828
964. 237813228 c.7564A>C p.T2522P missense 0.00000828
965. 237796884 c.6562A>C p.T2188P missense 0.00000828
966. 237947592 c.12580G>A p.E4194K missense 0.00000828
967. 237923098 c.11348A>T p.E3783V missense 0.00000828
968. 237664109 c.2302T>G p.F768V missense 0.00000828
969. 237813363 c.7699G>T p.D2567Y missense 0.00000828
970. 237664130 c.2323G>A p.V775I missense 0.00000828
971. 237754135 c.4003G>A p.E1335K missense 0.00000828
972. 237754129 c.3997G>A p.D1333N missense 0.00000828
973. 237664080 c.2273G>C p.C758S missense 0.00000828
974. 237666762 c.2570T>A p.L857Q missense 0.00000828
975. 237993842 c.14668A>G p.I4890V missense 0.00000828
976. 237813318 c.7654G>A p.V2552M missense 0.00000828
977. 237586436 c.893G>A p.R298H missense 0.00000828
978. 237494235 c.226C>T p.R76W missense 0.00000828
979. 237813210 c.7546C>T p.L2516F missense 0.00000828
980. 237806687 c.7282C>G p.P2428A missense 0.00000828
981. 237969533 c.14248T>C p.F4750L missense 0.00000828
982. 237886513 c.10640C>G p.T3547R missense 0.00000828
983. 237729947 c.3295G>C p.G1099R missense 0.00000828
984. 237659974 c.2125G>T p.G709W missense 0.00000828
985. 237777733 c.5305G>T p.V1769L missense 0.00000828
986. 237494212 c.203T>G p.V68G missense 0.00000828
987. 237730013 c.3361G>A p.G1121S missense 0.00000828
988. 237664164 c.2357G>A p.G786D missense 0.00000828
989. 237813361 c.7697G>A p.R2566Q missense 0.00000828
990. 237801787 c.6923G>C p.C2308S missense 0.00000828
991. 237659972 c.2123G>C p.G708A missense 0.00000828
992. 237870348 c.9680G>A p.R3227H missense 0.00000828
993. 237813378 c.7714T>G p.C2572G missense 0.00000828
994. 237666739 c.2547C>A p.D849E missense 0.00000828
995. 237923112 c.11362G>A p.G3788S missense 0.00000828
996. 237813238 c.7574T>C p.L2525S missense 0.00000828
997. 237796885 c.6563C>G p.T2188S missense 0.00000828
998. 237729924 c.3272_3274delAGA p.Lys1092del inframe 0.00000828
999. 237664141 c.2334G>C p.M778I missense 0.00000828
1000. 237993862 c.14688T>A p.D4896E missense 0.00000828
1001. 237664113 c.2306G>A p.R769Q missense 0.00000828
1002. 237982415 c.14513A>G p.E4838G missense 0.00000828
1003. 237777706 c.5278C>G p.R1760G missense 0.00000828
1004. 237788994 c.6056G>A p.G2019E missense 0.00000828
1005. 237666698 c.2506C>A p.H836N missense 0.00000828
1006. 237813355 c.7691C>T p.A2564V missense 0.00000828
1007. 237801675 c.6811G>A p.G2271S missense 0.00000828
1008. 237813216 c.7552C>T p.R2518W missense 0.00000828
1009. 237664181 c.2374G>A p.V792I missense 0.00000828
1010. 237947550 c.12538G>C p.G4180R missense 0.00000828
1011. 237494244 c.235C>A p.Q79K missense 0.00000828
1012. 237972306 c.14404C>T p.P4802S missense 0.00000828
1013. 237550627 c.623A>G p.Q208R missense 0.00000828
1014. 237777727 c.5299A>G p.S1767G missense 0.00000828
1015. 237754121 c.3989C>G p.P1330R missense 0.00000828
1016. 237660012 c.2163T>A p.D721E missense 0.00000828
1017. 237777764 c.5336G>A p.S1779N missense 0.00000828
1018. 237494226 c.217C>G p.L73V missense 0.00000828
1019. 237666749 c.2557C>T p.P853S missense 0.00000828
1020. 237813363 c.7699G>A p.D2567N missense 0.00000828
1021. 237659858 c.2009A>G p.Y670C missense 0.00000828
1022. 237870361 c.9693G>A p.M3231I missense 0.00000828
1023. 237972271 c.14369G>A p.R4790Q missense 0.00000828
1024. 237813292 c.7628C>T p.S2543F missense 0.00000828
1025. 237586440 c.897T>A p.H299Q missense 0.00000828
1026. 237813276 c.7612A>G p.T2538A missense 0.00000828
1027. 237982465 c.14563A>G p.I4855V missense 0.00000828

* 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.