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. 237947553 c.12541G>A p.G4181R missense 0.00009938
2. 237433824 c.76G>A p.A26T missense 0.00009908
3. 237969494 c.14209dupT p.Ala4740CysfsTer56 frameshift 0.00009655
4. 237947118 c.12106G>A p.D4036N missense 0.00009481
5. 237947854 c.12842C>T p.T4281M missense 0.00009195
6. 237604757 c.1144G>A p.V382M missense 0.00009186
7. 237824218 c.8407C>T p.R2803W missense 0.00009179
8. 237947677 c.12665_12667delAGA p.Lys4223del inframe 0.00009141
9. 237619984 c.1561G>A p.E521K missense 0.00009123
10. 237713929 c.3152G>A p.R1051H missense 0.00008803
11. 237617852 c.1454G>A p.R485Q missense 0.00008645
12. 237774070 c.4692G>A p.M1564I missense 0.00008584
13. 237811912 c.7511C>T p.T2504M missense 0.00008563
14. 237817674 c.7925G>A p.R2642K missense 0.00008334
15. 237777856 c.5428G>C p.V1810L missense 0.00008297
16. 237948232 c.13220G>A p.S4407N missense 0.00008269
17. 237955441 c.13600C>T p.P4534S missense 0.00007994
18. 237961337 c.13957G>A p.V4653I missense 0.00007794
19. 237787071 c.5923A>G p.M1975V missense 0.00007522
20. 237870323 c.9655G>A p.V3219M missense 0.00007462
21. 237532877 c.353C>T p.A118V missense 0.00007329
22. 237670038 c.2642T>G p.I881R missense 0.00006953
23. 237905624 c.11120G>C p.G3707A missense 0.00006795
24. 237780663 c.5793T>G p.D1931E missense 0.00006698
25. 237802446 c.7060G>A p.A2354T missense 0.00006692
26. 237774113 c.4735G>A p.V1579M missense 0.00006690
27. 237617756 c.1358G>C p.S453T missense 0.00006642
28. 237754201 c.4069G>C p.D1357H missense 0.00006633
29. 237730050 c.3398G>A p.R1133H missense 0.00006625
30. 237924275 c.11423T>A p.F3808Y missense 0.00006560
31. 237889591 c.10708C>T p.R3570W missense 0.00006211
32. 237843796 c.8936G>A p.R2979H missense 0.00006102
33. 237754015 c.3883A>G p.S1295G missense 0.00006095
34. 237755151 c.4273A>G p.T1425A missense 0.00006081
35. 237802462 c.7076G>A p.R2359Q missense 0.00005874
36. 237870447 c.9779G>A p.R3260Q missense 0.00005817
37. 237617752 c.1354G>A p.V452I missense 0.00005813
38. 237711849 c.3025C>T p.R1009W missense 0.00005810
39. 237664196 c.2389G>A p.G797R missense 0.00005801
40. 237870335 c.9667G>A p.E3223K missense 0.00005801
41. 237923148 c.11398T>A p.C3800S missense 0.00005800
42. 237870359 c.9691A>G p.M3231V missense 0.00005798
43. 237954780 c.13528G>A p.A4510T missense 0.00005747
44. 237755067 c.4189T>A p.Y1397N missense 0.00005619
45. 237666594 c.2402G>T p.R801L missense 0.00005509
46. 237774218 c.4840C>T p.R1614C missense 0.00005407
47. 237755119 c.4241G>A p.R1414Q missense 0.00005403
48. 237811860 c.7459C>A p.L2487I missense 0.00005355
49. 237875072 c.10258G>A p.V3420I missense 0.00005127
50. 237947779 c.12767T>C p.M4256T missense 0.00005078
51. 237829825 c.8450C>T p.A2817V missense 0.00005021
52. 237843793 c.8933A>T p.H2978L missense 0.00005018
53. 237777998 c.5570C>T p.P1857L missense 0.00004999
54. 237617790 c.1392C>A p.H464Q missense 0.00004988
55. 237791260 c.6320C>T p.T2107M missense 0.00004983
56. 237756888 c.4388G>A p.R1463H missense 0.00004975
57. 237670011 c.2615T>C p.I872T missense 0.00004932
58. 237872202 c.9946A>G p.K3316E missense 0.00004882
59. 237755056 c.4178delC p.Thr1393LysfsTer28 frameshift 0.00004822
60. 237824245 c.8434C>G p.Q2812E missense 0.00004746
61. 237841393 c.8876A>C p.E2959A missense 0.00004721
62. 237824219 c.8408G>A p.R2803Q missense 0.00004589
63. 237824125 c.8314C>T p.R2772C missense 0.00004557
64. 237824189 c.8378G>A p.R2793Q missense 0.00004512
65. 237824153 c.8342C>T p.T2781I missense 0.00004510
66. 237433891 c.143T>C p.F48S missense 0.00004480
67. 237821259 c.8145G>T p.E2715D missense 0.00004472
68. 237821261 c.8147A>T p.K2716I missense 0.00004467
69. 237934127 c.11497G>A p.D3833N missense 0.00004450
70. 237821272 c.8158T>C p.F2720L missense 0.00004430
71. 237889582 c.10699C>T p.R3567C missense 0.00004405
72. 237666641 c.2449C>G p.P817A missense 0.00004403
73. 237711733 c.2909A>G p.Y970C missense 0.00004380
74. 237947103 c.12091A>G p.T4031A missense 0.00004370
75. 237814727 c.7750A>G p.M2584V missense 0.00004279
76. 237947812 c.12800A>G p.Q4267R missense 0.00004228
77. 237947838 c.12826G>A p.V4276M missense 0.00004202
78. 237540715 c.556G>A p.V186M missense 0.00004184
79. 237617702 c.1304C>T p.A435V missense 0.00004181
80. 237881784 c.10517G>A p.R3506Q missense 0.00004174
81. 237791220 c.6280G>A p.G2094S missense 0.00004161
82. 237791286 c.6346A>G p.T2116A missense 0.00004156
83. 237870446 c.9778C>T p.R3260W missense 0.00004153
84. 237632454 c.1675A>G p.I559V missense 0.00004151
85. 237754228 c.4096A>G p.T1366A missense 0.00004151
86. 237886553 c.10680T>A p.H3560Q missense 0.00004150
87. 237947416 c.12404G>A p.R4135H missense 0.00004146
88. 237659822 c.1973A>G p.N658S missense 0.00004144
89. 237870337 c.9669G>C p.E3223D missense 0.00004143
90. 237947439 c.12427A>C p.K4143Q missense 0.00004143
91. 237659836 c.1987G>A p.V663I missense 0.00004142
92. 237664082 c.2275T>A p.L759I missense 0.00004142
93. 237666765 c.2573C>T p.T858M missense 0.00004142
94. 237806639 c.7234G>A p.G2412R missense 0.00004141
95. 237777722 c.5294C>T p.S1765F missense 0.00004141
96. 237659953 c.2104G>A p.G702R missense 0.00004140
97. 237868632 c.9569G>A p.R3190Q missense 0.00004084
98. 237819152 c.7997T>A p.L2666Q missense 0.00004076
99. 237872827 c.10190G>T p.R3397L missense 0.00004056
100. 237863530 c.9130A>T p.T3044S missense 0.00003971
101. 237780587 c.5717T>C p.M1906T missense 0.00003954
102. 237951310 c.13351G>A p.E4451K missense 0.00003937
103. 237905607 c.11103T>A p.D3701E missense 0.00003736
104. 237831260 c.8590+2T>C essential splice site 0.00003723
105. 237862282 c.9085A>G p.I3029V missense 0.00003710
106. 237823324 c.8248T>A p.S2750T missense 0.00003709
107. 237823338 c.8262G>C p.Q2754H missense 0.00003708
108. 237532864 c.340C>G p.L114V missense 0.00003701
109. 237875080 c.10266G>C p.Q3422H missense 0.00003682
110. 237780632 c.5762G>A p.R1921Q missense 0.00003537
111. 237872251 c.9995C>T p.T3332M missense 0.00003525
112. 237838057 c.8741C>T p.T2914M missense 0.00003483
113. 237670038 c.2642T>A p.I881K missense 0.00003476
114. 237780644 c.5774T>C p.I1925T missense 0.00003432
115. 237604778 c.1165C>T p.R389C missense 0.00003396
116. 237774111 c.4733C>G p.P1578R missense 0.00003389
117. 237729878 c.3226G>A p.E1076K missense 0.00003359
118. 237881795 c.10528C>A p.R3510S missense 0.00003342
119. 237881790 c.10523T>C p.I3508T missense 0.00003340
120. 237778016 c.5588C>T p.T1863M missense 0.00003336
121. 237787081 c.5933A>G p.N1978S missense 0.00003330
122. 237924272 c.11420C>T p.A3807V missense 0.00003329
123. 237580390 c.815G>T p.R272L missense 0.00003328
124. 237870287 c.9619A>G p.N3207D missense 0.00003325
125. 237777937 c.5509G>A p.E1837K missense 0.00003324
126. 237777922 c.5494G>A p.G1832S missense 0.00003324
127. 237777400 c.4972C>T p.L1658F missense 0.00003321
128. 237895385 c.10975A>G p.K3659E missense 0.00003321
129. 237780695 c.5825T>G p.F1942C missense 0.00003320
130. 237586493 c.950T>C p.M317T missense 0.00003317
131. 237777682 c.5254G>A p.G1752S missense 0.00003315
132. 237777484 c.5056C>T p.L1686F missense 0.00003315
133. 237886513 c.10640C>T p.T3547M missense 0.00003313
134. 237831250 c.8582A>G p.E2861G missense 0.00003313
135. 237801664 c.6800G>A p.R2267H missense 0.00003313
136. 237729947 c.3295G>A p.G1099R missense 0.00003312
137. 237659894 c.2045C>G p.T682R missense 0.00003312
138. 237729951 c.3299G>A p.R1100Q missense 0.00003312
139. 237813288 c.7624G>A p.A2542T missense 0.00003312
140. 237863738 c.9338G>A p.G3113D missense 0.00003229
141. 237774123 c.4745_4746insC p.Arg1585AlafsTer29 frameshift 0.00003192
142. 237831245 c.8577G>C p.E2859D missense 0.00003190
143. 237954728 c.13477-1G>C essential splice site 0.00003161
144. 237433797 c.49G>A p.D17N missense 0.00003108
145. 237675030 c.2761T>A p.F921I missense 0.00003076
146. 237924314 c.11462C>T p.T3821I missense 0.00003052
147. 237872826 c.10189C>T p.R3397C missense 0.00003044
148. 237798272 c.6772C>T p.R2258C missense 0.00003041
149. 237713893 c.3116A>T p.D1039V missense 0.00002987
150. 237831220 c.8552T>C p.I2851T missense 0.00002979
151. 237713953 c.3176G>A p.G1059E missense 0.00002965
152. 237870542 c.9874G>A p.E3292K missense 0.00002965
153. 237819215 c.8060G>A p.S2687N missense 0.00002900
154. 237823304 c.8228A>G p.Y2743C missense 0.00002860
155. 237823345 c.8269A>G p.M2757V missense 0.00002814
156. 237951338 c.13379A>G p.Q4460R missense 0.00002766
157. 237863581 c.9181C>G p.L3061V missense 0.00002723
158. 237791172 c.6232C>T p.P2078S missense 0.00002723
159. 237713946 c.3169C>A p.L1057M missense 0.00002678
160. 237868585 c.9522T>A p.H3174Q missense 0.00002658
161. 237863585 c.9185A>G p.D3062G missense 0.00002632
162. 237713944 c.3167C>T p.T1056M missense 0.00002620
163. 237947104 c.12092C>A p.T4031N missense 0.00002619
164. 237656263 c.1837G>A p.V613I missense 0.00002601
165. 237955507 c.13666G>A p.A4556T missense 0.00002601
166. 237754277 c.4145C>G p.S1382C missense 0.00002595
167. 237947244 c.12232C>A p.L4078I missense 0.00002568
168. 237713941 c.3164G>A p.R1055H missense 0.00002566
169. 237947253 c.12241G>A p.E4081K missense 0.00002565
170. 237947256 c.12244G>A p.E4082K missense 0.00002562
171. 237604779 c.1166G>A p.R389H missense 0.00002556
172. 237995918 c.14875C>T p.R4959W missense 0.00002551
173. 237947764 c.12752A>G p.N4251S missense 0.00002535
174. 237787065 c.5917A>G p.I1973V missense 0.00002518
175. 237811755 c.7354G>A p.V2452M missense 0.00002511
176. 237947849 c.12837G>A p.M4279I missense 0.00002511
177. 237619915 c.1492G>A p.V498M missense 0.00002504
178. 237778028 c.5600A>C p.E1867A missense 0.00002504
179. 237778021 c.5593G>A p.E1865K missense 0.00002503
180. 237948105 c.13093G>A p.D4365N missense 0.00002503
181. 237947343 c.12331A>C p.N4111H missense 0.00002501
182. 237729890 c.3238G>A p.G1080S missense 0.00002497
183. 237660037 c.2188C>T p.L730F missense 0.00002495
184. 237791224 c.6284T>C p.I2095T missense 0.00002495
185. 237617722 c.1324G>T p.A442S missense 0.00002495
186. 237789053 c.6115C>A p.L2039M missense 0.00002494
187. 237895428 c.11018G>A p.R3673Q missense 0.00002493
188. 237870440 c.9772C>T p.P3258S missense 0.00002491
189. 237780691 c.5821C>T p.R1941C missense 0.00002491
190. 237754229 c.4097C>A p.T1366N missense 0.00002491
191. 237780692 c.5822G>A p.R1941H missense 0.00002491
192. 237711850 c.3026G>A p.R1009Q missense 0.00002490
193. 237732502 c.3481G>C p.V1161L missense 0.00002489
194. 237777418 c.4990G>A p.V1664I missense 0.00002488
195. 237777848 c.5420G>A p.R1807Q missense 0.00002488
196. 237608802 c.1272C>G p.F424L missense 0.00002488
197. 237777626 c.5198C>T p.T1733M missense 0.00002488
198. 237813192 c.7528A>G p.T2510A missense 0.00002488
199. 237608780 c.1250G>A p.R417Q missense 0.00002487
200. 237754201 c.4069G>A p.D1357N missense 0.00002487
201. 237947929 c.12917T>C p.F4306S missense 0.00002487
202. 237947956 c.12944G>A p.G4315E missense 0.00002487
203. 237870404 c.9736A>G p.M3246V missense 0.00002486
204. 237777474 c.5046A>C p.E1682D missense 0.00002486
205. 237604656 c.1043G>A p.G348D missense 0.00002485
206. 237666737 c.2545G>A p.D849N missense 0.00002485
207. 237666758 c.2566T>C p.S856P missense 0.00002485
208. 237664171 c.2364C>A p.F788L missense 0.00002484
209. 237813372 c.7708G>A p.E2570K missense 0.00002484
210. 237664155 c.2348A>G p.N783S missense 0.00002484
211. 237813285 c.7621C>A p.H2541N missense 0.00002484
212. 237813288 c.7624G>T p.A2542S missense 0.00002484
213. 237713940 c.3163C>T p.R1055C missense 0.00002481
214. 237666612 c.2420G>A p.R807Q missense 0.00002475
215. 237944871 c.11887A>T p.S3963C missense 0.00002465
216. 237955411 c.13570A>G p.T4524A missense 0.00002457
217. 237955412 c.13571_13573delCTT p.Ser4526del inframe 0.00002457
218. 237656302 c.1876C>T p.R626C missense 0.00002437
219. 237955412 c.13571C>T p.T4524I missense 0.00002422
220. 237843828 c.8968C>T p.L2990F missense 0.00002347
221. 237850789 c.9052A>G p.R3018G missense 0.00002340
222. 237841391 c.8874A>T p.Q2958H missense 0.00002335
223. 237814785 c.7808C>G p.A2603G missense 0.00002311
224. 237814785 c.7808C>T p.A2603V missense 0.00002311
225. 237843824 c.8964A>T p.R2988S missense 0.00002302
226. 237948207 c.13195A>G p.N4399D missense 0.00002279
227. 237949323 c.13315C>A p.P4439T missense 0.00002273
228. 237872857 c.10220C>T p.S3407L missense 0.00002271
229. 237656270 c.1844G>A p.C615Y missense 0.00002271
230. 237433834 c.86A>G p.H29R missense 0.00002252
231. 237814721 c.7744C>A p.P2582T missense 0.00002231
232. 237774114 c.4736T>A p.V1579E missense 0.00002215
233. 237774114 c.4736T>C p.V1579A missense 0.00002215
234. 237870571 c.9901+2T>G essential splice site 0.00002193
235. 237944879 c.11895T>G p.I3965M missense 0.00002189
236. 237433884 c.136C>A p.L46I missense 0.00002188
237. 237949311 c.13303A>G p.T4435A missense 0.00002182
238. 237951299 c.13340G>A p.G4447E missense 0.00002179
239. 237889583 c.10700G>T p.R3567L missense 0.00002179
240. 237538090 c.458C>T p.T153I missense 0.00002166
241. 237949309 c.13301A>C p.E4434A missense 0.00002162
242. 237527664 c.301A>T p.M101L missense 0.00002135
243. 237863614 c.9214A>G p.M3072V missense 0.00002131
244. 237814728 c.7751T>A p.M2584K missense 0.00002130
245. 237949302 c.13294A>C p.K4432Q missense 0.00002124
246. 237774124 c.4746C>G p.C1582W missense 0.00002124
247. 237949292 c.13284A>C p.E4428D missense 0.00002115
248. 237829818 c.8443G>A p.V2815M missense 0.00002103
249. 237804198 c.7117G>T p.D2373Y missense 0.00002100
250. 237433860 c.112G>T p.A38S missense 0.00002094
251. 237949282 c.13274_13276delAAG p.Glu4428del inframe 0.00002091
252. 237433867 c.119A>G p.E40G missense 0.00002080
253. 237949275 c.13267A>C p.K4423Q missense 0.00002072
254. 237949270 c.13262A>C p.E4421A missense 0.00002061
255. 237889592 c.10709G>A p.R3570Q missense 0.00002060
256. 237814777 c.7800T>A p.N2600K missense 0.00002045
257. 237814775 c.7798A>G p.N2600D missense 0.00002040
258. 237889602 c.10719_10720delCT p.Y3573*fs*1 frameshift 0.00002007
259. 237814751 c.7774T>G p.L2592V missense 0.00002002
260. 237947010 c.11998G>A p.V4000M missense 0.00002001
261. 237863626 c.9226A>C p.K3076Q missense 0.00001995
262. 237538041 c.409C>T p.R137W missense 0.00001988
263. 237656276 c.1850T>C p.L617P missense 0.00001987
264. 237538044 c.412T>G p.S138A missense 0.00001972
265. 237829830 c.8455C>T p.H2819Y missense 0.00001968
266. 237794731 c.6445A>G p.I2149V missense 0.00001946
267. 237774260 c.4882A>G p.M1628V missense 0.00001933
268. 237961428 c.14048G>A p.R4683K missense 0.00001928
269. 237961429 c.14049A>T p.R4683S missense 0.00001925
270. 237670013 c.2617G>A p.V873M missense 0.00001915
271. 237774252 c.4874T>G p.L1625R missense 0.00001873
272. 237780620 c.5750A>G p.Q1917R missense 0.00001863
273. 237666635 c.2443C>T p.P815S missense 0.00001842
274. 237947069 c.12057G>A p.M4019I missense 0.00001839
275. 237753959 c.3827C>T p.T1276I missense 0.00001816
276. 237753971 c.3839C>T p.S1280F missense 0.00001812
277. 237774207 c.4829G>A p.R1610Q missense 0.00001810
278. 237670023 c.2627C>T p.P876L missense 0.00001807
279. 237774219 c.4841G>A p.R1614H missense 0.00001803
280. 237819262 c.8107C>A p.P2703T missense 0.00001791
281. 237551479 c.769C>T p.R257W missense 0.00001784
282. 237656366 c.1940G>A p.R647H missense 0.00001752
283. 237656377 c.1951C>T p.H651Y missense 0.00001745
284. 237870482 c.9814C>G p.H3272D missense 0.00001735
285. 237865317 c.9407G>A p.S3136N missense 0.00001731
286. 237670113 c.2717C>T p.P906L missense 0.00001726
287. 237670112 c.2716C>G p.P906A missense 0.00001723
288. 237789091 c.6153C>G p.D2051E missense 0.00001720
289. 237754022 c.3890C>A p.T1297N missense 0.00001716
290. 237995927 c.14884T>A p.Y4962N missense 0.00001713
291. 237838107 c.8791C>T p.R2931C missense 0.00001711
292. 237713914 c.3137A>G p.N1046S missense 0.00001706
293. 237754028 c.3896T>C p.I1299T missense 0.00001701
294. 237670094 c.2698C>T p.L900F missense 0.00001700
295. 237802480 c.7094A>G p.N2365S missense 0.00001698
296. 237754029 c.3897C>G p.I1299M missense 0.00001698
297. 237947781 c.12769C>T p.R4257X nonsense 0.00001695
298. 237802477 c.7091C>G p.P2364R missense 0.00001695
299. 237778073 c.5645A>G p.E1882G missense 0.00001695
300. 237670062 c.2666T>C p.I889T missense 0.00001693
301. 237880618 c.10444G>A p.A3482T missense 0.00001693
302. 237540628 c.469G>T p.A157S missense 0.00001693
303. 237880613 c.10439T>C p.I3480T missense 0.00001691
304. 237580424 c.848+1G>A essential splice site 0.00001688
305. 237872308 c.10052C>T p.A3351V missense 0.00001684
306. 237965163 c.14098T>G p.S4700A missense 0.00001675
307. 237586525 c.982G>A p.A328T missense 0.00001674
308. 237540649 c.490C>A p.P164T missense 0.00001673
309. 237753261 c.3767C>T p.P1256L missense 0.00001673
310. 237893618 c.10897G>A p.E3633K missense 0.00001673
311. 237753260 c.3766C>A p.P1256T missense 0.00001672
312. 237664033 c.2226C>G p.S742R missense 0.00001672
313. 237872334 c.10078A>G p.T3360A missense 0.00001671
314. 237890477 c.10816G>A p.A3606T missense 0.00001671
315. 237881795 c.10528C>T p.R3510C missense 0.00001671
316. 237778030 c.5602C>A p.L1868I missense 0.00001670
317. 237872343 c.10087G>C p.A3363P missense 0.00001670
318. 237947857 c.12845C>T p.A4282V missense 0.00001670
319. 237732452 c.3431G>A p.R1144Q missense 0.00001670
320. 237881772 c.10505A>C p.E3502A missense 0.00001669
321. 237947696 c.12684G>T p.E4228D missense 0.00001668
322. 237780671 c.5801C>T p.A1934V missense 0.00001668
323. 237711879 c.3055G>A p.G1019S missense 0.00001668
324. 237837394 c.8591-2_8591delAGG essential splice site 0.00001668
325. 237778001 c.5573A>T p.E1858V missense 0.00001667
326. 237632478 c.1699G>C p.A567P missense 0.00001667
327. 237617717 c.1319C>T p.A440V missense 0.00001665
328. 237919600 c.11158G>C p.E3720Q missense 0.00001665
329. 237886430 c.10557G>T p.L3519F missense 0.00001665
330. 237753116 c.3622G>A p.G1208R missense 0.00001664
331. 237617797 c.1399G>A p.D467N missense 0.00001663
332. 237919648 c.11206G>A p.A3736T missense 0.00001663
333. 237580371 c.796G>A p.A266T missense 0.00001663
334. 237947385 c.12373G>A p.V4125I missense 0.00001662
335. 237758805 c.4444C>T p.R1482C missense 0.00001662
336. 237947675 c.12663C>G p.S4221R missense 0.00001662
337. 237895372 c.10962A>C p.E3654D missense 0.00001662
338. 237791238 c.6298C>T p.R2100W missense 0.00001662
339. 237890451 c.10790G>A p.R3597K missense 0.00001661
340. 237969452 c.14167G>A p.A4723T missense 0.00001661
341. 237777902 c.5474T>C p.F1825S missense 0.00001661
342. 237787120 c.5972A>G p.E1991G missense 0.00001660
343. 237890440 c.10779G>C p.K3593N missense 0.00001660
344. 237586394 c.851G>A p.W284X nonsense 0.00001660
345. 237608814 c.1284A>T p.R428S missense 0.00001660
346. 237787125 c.5977C>T p.R1993C missense 0.00001660
347. 237758860 c.4499G>A p.R1500H missense 0.00001660
348. 237886443 c.10570A>G p.I3524V missense 0.00001660
349. 237758850 c.4489G>A p.G1497R missense 0.00001659
350. 237777847 c.5419C>T p.R1807W missense 0.00001659
351. 237758853 c.4492C>G p.Q1498E missense 0.00001659
352. 237777617 c.5189C>T p.T1730M missense 0.00001659
353. 237870309 c.9641T>A p.L3214H missense 0.00001659
354. 237758859 c.4498C>T p.R1500C missense 0.00001659
355. 237732502 c.3481G>T p.V1161F missense 0.00001659
356. 237787126 c.5978G>A p.R1993H missense 0.00001659
357. 237921003 c.11252C>G p.T3751S missense 0.00001659
358. 237870314 c.9646G>A p.E3216K missense 0.00001659
359. 237660023 c.2174A>G p.Y725C missense 0.00001659
360. 237608704 c.1174A>G p.I392V missense 0.00001658
361. 237921021 c.11270C>A p.A3757D missense 0.00001658
362. 237870423 c.9755A>G p.H3252R missense 0.00001658
363. 237756821 c.4321G>A p.V1441I missense 0.00001658
364. 237756893 c.4393G>A p.V1465I missense 0.00001658
365. 237777577 c.5149G>T p.A1717S missense 0.00001658
366. 237777449 c.5021A>G p.H1674R missense 0.00001658
367. 237777434 c.5006A>G p.N1669S missense 0.00001658
368. 237664201 c.2394A>G p.I798M missense 0.00001658
369. 237947932 c.12920G>A p.R4307H missense 0.00001658
370. 237608747 c.1217C>T p.S406L missense 0.00001658
371. 237608737 c.1207A>C p.I403L missense 0.00001658
372. 237756813 c.4313C>A p.P1438H missense 0.00001658
373. 237608788 c.1258C>T p.R420W missense 0.00001658
374. 237756887 c.4387C>T p.R1463C missense 0.00001658
375. 237993882 c.14708A>G p.H4903R missense 0.00001657
376. 237777706 c.5278C>T p.R1760W missense 0.00001657
377. 237754063 c.3931G>A p.A1311T missense 0.00001657
378. 237788990 c.6052G>A p.D2018N missense 0.00001657
379. 237754117 c.3985G>A p.G1329R missense 0.00001657
380. 237777524 c.5096G>A p.R1699H missense 0.00001657
381. 237754142 c.4010A>G p.Y1337C missense 0.00001657
382. 237801663 c.6799C>T p.R2267C missense 0.00001657
383. 237659825 c.1976T>G p.I659S missense 0.00001657
384. 237777791 c.5363A>C p.K1788T missense 0.00001657
385. 237659873 c.2024A>G p.Y675C missense 0.00001656
386. 237886488 c.10615G>A p.D3539N missense 0.00001656
387. 237550600 c.596G>T p.G199V missense 0.00001656
388. 237813360 c.7696C>T p.R2566W missense 0.00001656
389. 237754087 c.3955G>A p.A1319T missense 0.00001656
390. 237801675 c.6811G>T p.G2271C missense 0.00001656
391. 237886504 c.10631C>G p.P3544R missense 0.00001656
392. 237972204 c.14302G>A p.V4768I missense 0.00001656
393. 237664101 c.2294G>A p.S765N missense 0.00001656
394. 237806708 c.7303G>T p.V2435F missense 0.00001656
395. 237730023 c.3371C>T p.P1124L missense 0.00001656
396. 237730013 c.3361G>C p.G1121R missense 0.00001656
397. 237806702 c.7297G>T p.V2433L missense 0.00001656
398. 237659888 c.2039A>G p.D680G missense 0.00001656
399. 237806637 c.7232C>G p.A2411G missense 0.00001656
400. 237972246 c.14344A>G p.T4782A missense 0.00001656
401. 237730049 c.3397C>T p.R1133C missense 0.00001656
402. 237659897 c.2048A>C p.E683A missense 0.00001656
403. 237806720 c.7315G>A p.A2439T missense 0.00001656
404. 237754082 c.3950C>T p.T1317M missense 0.00001656
405. 237798284 c.6784C>G p.L2262V missense 0.00001640
406. 237863651 c.9251G>A p.R3084Q missense 0.00001603
407. 237774078 c.4700C>T p.S1567L missense 0.00001593
408. 237798279 c.6779C>T p.P2260L missense 0.00001592
409. 237798198 c.6698C>G p.A2233G missense 0.00001584
410. 237955442 c.13601C>T p.P4534L missense 0.00001574
411. 237870548 c.9880G>A p.A3294T missense 0.00001568
412. 237875051 c.10237_10238delAA p.Glu3415ArgfsTer9 frameshift 0.00001561
413. 237713899 c.3122G>A p.R1041Q missense 0.00001554
414. 237951329 c.13370A>G p.K4457R missense 0.00001537
415. 237951330 c.13371G>T p.K4457N missense 0.00001520
416. 237863659 c.9259C>T p.P3087S missense 0.00001509
417. 237948241 c.13229T>C p.V4410A missense 0.00001502
418. 237955445 c.13604C>T p.T4535M missense 0.00001501
419. 237693737 c.2833G>T p.A945S missense 0.00001476
420. 237656290 c.1864G>A p.G622R missense 0.00001463
421. 237863665 c.9265G>C p.G3089R missense 0.00001445
422. 237713886 c.3109C>G p.L1037V missense 0.00001431
423. 237819148 c.7993G>A p.A2665T missense 0.00001412
424. 237713883 c.3106A>T p.T1036S missense 0.00001410
425. 237713884 c.3107C>G p.T1036S missense 0.00001408
426. 237870536 c.9868A>T p.I3290F missense 0.00001386
427. 237693767 c.2863G>A p.E955K missense 0.00001371
428. 237819151 c.7996C>G p.L2666V missense 0.00001371
429. 237868638 c.9575G>T p.R3192I missense 0.00001370
430. 237693765 c.2861A>G p.D954G missense 0.00001351
431. 237693755 c.2851G>A p.G951S missense 0.00001349
432. 237868589 c.9526G>T p.D3176Y missense 0.00001340
433. 237868599 c.9536A>G p.N3179S missense 0.00001340
434. 237666609 c.2417G>A p.G806E missense 0.00001338
435. 237948229 c.13217T>A p.M4406K missense 0.00001338
436. 237713869 c.3092G>A p.R1031H missense 0.00001333
437. 237868581 c.9518C>T p.T3173I missense 0.00001325
438. 237841410 c.8893A>G p.K2965E missense 0.00001320
439. 237713848 c.3071T>C p.V1024A missense 0.00001315
440. 237774092 c.4714A>G p.K1572E missense 0.00001314
441. 237713851 c.3074A>G p.K1025R missense 0.00001313
442. 237863680 c.9280A>G p.I3094V missense 0.00001310
443. 237868572 c.9509T>A p.F3170Y missense 0.00001310
444. 237868571 c.9508T>A p.F3170I missense 0.00001307
445. 237948225 c.13213C>T p.L4405F missense 0.00001301
446. 237863764 c.9364A>C p.I3122L missense 0.00001297
447. 237666611 c.2419C>T p.R807X nonsense 0.00001292
448. 237868520 c.9457T>C p.S3153P missense 0.00001286
449. 237811752 c.7351G>A p.V2451M missense 0.00001280
450. 237868529 c.9466G>A p.G3156R missense 0.00001277
451. 237863684 c.9284A>G p.N3095S missense 0.00001276
452. 237791125 c.6185T>C p.I2062T missense 0.00001275
453. 237774096 c.4718G>A p.S1573N missense 0.00001261
454. 237955456 c.13615A>C p.S4539R missense 0.00001255
455. 237875133 c.10319C>G p.S3440X nonsense 0.00001255
456. 237850768 c.9031C>A p.L3011I missense 0.00001252
457. 237841403 c.8886C>A p.F2962L missense 0.00001248
458. 237946973 c.11963-2A>G essential splice site 0.00001216
459. 237841396 c.8879T>C p.I2960T missense 0.00001206
460. 237875116 c.10302T>A p.D3434E missense 0.00001199
461. 237811902 c.7501T>G p.S2501A missense 0.00001182
462. 237841392 c.8875G>C p.E2959Q missense 0.00001176
463. 237850787 c.9050A>G p.H3017R missense 0.00001173
464. 237948210 c.13198G>T p.A4400S missense 0.00001172
465. 237819179 c.8024C>G p.A2675G missense 0.00001158
466. 237811774 c.7373C>T p.A2458V missense 0.00001153
467. 237811893 c.7492G>A p.A2498T missense 0.00001152
468. 237951358 c.13399A>G p.T4467A missense 0.00001146
469. 237666615 c.2423A>G p.H808R missense 0.00001141
470. 237774110 c.4732C>T p.P1578S missense 0.00001137
471. 237791139 c.6199G>A p.V2067I missense 0.00001126
472. 237946986 c.11974A>C p.N3992H missense 0.00001124
473. 237843819 c.8959A>G p.S2987G missense 0.00001121
474. 237811783 c.7382G>T p.C2461F missense 0.00001120
475. 237955468 c.13627A>T p.K4543X nonsense 0.00001113
476. 237948203 c.13191T>A p.N4397K missense 0.00001110
477. 237843816 c.8956G>A p.A2986T missense 0.00001109
478. 237841353 c.8836G>A p.G2946S missense 0.00001106
479. 237843814 c.8954C>G p.A2985G missense 0.00001099
480. 237538093 c.461C>G p.T154R missense 0.00001097
481. 237811876 c.7475T>C p.F2492S missense 0.00001096
482. 237774117 c.4739C>T p.P1580L missense 0.00001090
483. 237774117 c.4739C>A p.P1580Q missense 0.00001090
484. 237829883 c.8508C>A p.D2836E missense 0.00001090
485. 237951365 c.13406G>C p.R4469T missense 0.00001089
486. 237811803 c.7402A>G p.M2468V missense 0.00001087
487. 237872847 c.10210A>G p.I3404V missense 0.00001085
488. 237819193 c.8038T>C p.Y2680H missense 0.00001076
489. 237841366 c.8849A>G p.K2950R missense 0.00001073
490. 237961356 c.13976A>G p.E4659G missense 0.00001072
491. 237841372 c.8855A>G p.E2952G missense 0.00001071
492. 237829881 c.8506G>A p.D2836N missense 0.00001070
493. 237811859 c.7458T>G p.H2486Q missense 0.00001069
494. 237811854 c.7453C>T p.L2485F missense 0.00001069
495. 237951368 c.13409A>G p.Y4470C missense 0.00001068
496. 237811839 c.7438G>T p.V2480F missense 0.00001067
497. 237863735 c.9335T>C p.I3112T missense 0.00001064
498. 237863736 c.9336T>G p.I3112M missense 0.00001064
499. 237819196 c.8041A>T p.M2681L missense 0.00001057
500. 237872841 c.10204G>A p.V3402M missense 0.00001055
501. 237961365 c.13985G>T p.G4662V missense 0.00001051
502. 237804199 c.7118A>G p.D2373G missense 0.00001041
503. 237774128 c.4750C>T p.P1584S missense 0.00001033
504. 237774129 c.4751C>T p.P1584L missense 0.00001032
505. 237955478 c.13637G>A p.S4546N missense 0.00001027
506. 237774274 c.4896C>G p.I1632M missense 0.00001027
507. 237870507 c.9839T>C p.I3280T missense 0.00001024
508. 237961377 c.13997T>C p.I4666T missense 0.00001023
509. 237755152 c.4274C>T p.T1425M missense 0.00001021
510. 237819203 c.8048C>T p.S2683L missense 0.00001020
511. 237872829 c.10192A>T p.M3398L missense 0.00001019
512. 237538033 c.401C>G p.S134C missense 0.00001019
513. 237774131 c.4753C>T p.R1585C missense 0.00001019
514. 237961388 c.14008C>G p.L4670V missense 0.00001011
515. 237872188 c.9932A>G p.K3311R missense 0.00001011
516. 237872818 c.10181A>C p.E3394A missense 0.00001006
517. 237804204 c.7123G>A p.E2375K missense 0.00000997
518. 237948187 c.13175A>G p.K4392R missense 0.00000994
519. 237961406 c.14026G>T p.A4676S missense 0.00000990
520. 237755146 c.4268C>T p.T1423M missense 0.00000990
521. 237955482 c.13641delG p.Asp4548ThrfsTer14 frameshift 0.00000989
522. 237666627 c.2435A>G p.K812R missense 0.00000987
523. 237829861 c.8486G>A p.S2829N missense 0.00000978
524. 237666629 c.2437T>G p.F813V missense 0.00000970
525. 237755141 c.4263G>A p.M1421I missense 0.00000965
526. 237829852 c.8477T>C p.I2826T missense 0.00000965
527. 237948181 c.13169A>G p.Q4390R missense 0.00000962
528. 237656327 c.1901A>G p.D634G missense 0.00000958
529. 237791160 c.6220G>T p.V2074F missense 0.00000958
530. 237755139 c.4261A>G p.M1421V missense 0.00000956
531. 237774147 c.4769T>A p.F1590Y missense 0.00000956
532. 237838033 c.8717G>T p.G2906V missense 0.00000953
533. 237951412 c.13453A>G p.I4485V missense 0.00000948
534. 237951416 c.13457C>G p.A4486G missense 0.00000947
535. 237872218 c.9962C>T p.P3321L missense 0.00000945
536. 237947043 c.12031G>C p.E4011Q missense 0.00000945
537. 237791164 c.6224T>C p.I2075T missense 0.00000939
538. 237838147 c.8830+1G>A essential splice site 0.00000938
539. 237765407 c.4679T>C p.I1560T missense 0.00000934
540. 237765405 c.4677A>T p.R1559S missense 0.00000934
541. 237774164 c.4786T>A p.W1596R missense 0.00000934
542. 237774165 c.4787G>A p.W1596X nonsense 0.00000933
543. 237732617 c.3596A>G p.D1199G missense 0.00000932
544. 237872223 c.9967A>G p.M3323V missense 0.00000928
545. 237774176 c.4798C>T p.P1600S missense 0.00000922
546. 237774177 c.4799C>T p.P1600L missense 0.00000920
547. 237755128 c.4250A>G p.Y1417C missense 0.00000919
548. 237774181 c.4803C>G p.N1601K missense 0.00000917
549. 237880504 c.10330G>C p.V3444L missense 0.00000913
550. 237780625 c.5755C>T p.R1919W missense 0.00000913
551. 237794741 c.6455A>G p.N2152S missense 0.00000912
552. 237753299 c.3805G>C p.E1269Q missense 0.00000910
553. 237753955 c.3823G>A p.G1275S missense 0.00000908
554. 237753961 c.3829A>G p.I1277V missense 0.00000907
555. 237753968 c.3836G>C p.S1279T missense 0.00000906
556. 237753971 c.3839C>G p.S1280C missense 0.00000906
557. 237870492 c.9824C>G p.T3275R missense 0.00000905
558. 237774231 c.4853T>C p.L1618S missense 0.00000904
559. 237774229 c.4851G>T p.W1617C missense 0.00000903
560. 237774209 c.4831A>G p.I1611V missense 0.00000903
561. 237872238 c.9982A>G p.K3328E missense 0.00000901
562. 237774218 c.4840C>A p.R1614S missense 0.00000901
563. 237955496 c.13655A>G p.H4552R missense 0.00000900
564. 237753296 c.3802A>G p.I1268V missense 0.00000899
565. 237804264 c.7183T>A p.L2395M missense 0.00000897
566. 237994814 c.14757_14758insT p.Leu4922SerfsTer9 frameshift 0.00000896
567. 237947088 c.12076T>G p.L4026V missense 0.00000896
568. 237819251 c.8096G>A p.G2699E missense 0.00000895
569. 237947089 c.12077T>G p.L4026W missense 0.00000895
570. 237778111 c.5683C>A p.Q1895K missense 0.00000892
571. 237880658 c.10484G>T p.R3495L missense 0.00000892
572. 237753294 c.3800A>T p.H1267L missense 0.00000890
573. 237791175 c.6235G>A p.E2079K missense 0.00000890
574. 237804256 c.7175A>G p.Y2392C missense 0.00000889
575. 237780631 c.5761C>T p.R1921W missense 0.00000889
576. 237804246 c.7165A>C p.M2389L missense 0.00000889
577. 237838132 c.8816A>G p.Y2939C missense 0.00000888
578. 237865343 c.9433A>T p.S3145C missense 0.00000887
579. 237947095 c.12083C>T p.S4028L missense 0.00000886
580. 237656353 c.1927T>A p.L643I missense 0.00000885
581. 237670031 c.2635G>C p.E879Q missense 0.00000884
582. 237865340 c.9430A>G p.K3144E missense 0.00000883
583. 237995945 c.14902_14903insAA frameshift 0.00000880
584. 237656363 c.1937C>T p.T646I missense 0.00000878
585. 237666642 c.2450C>T p.P817L missense 0.00000876
586. 237789101 c.6163T>C p.S2055P missense 0.00000876
587. 237754280 c.4148G>A p.R1383H missense 0.00000875
588. 237670037 c.2641A>G p.I881V missense 0.00000873
589. 237586550 c.1005+2T>C essential splice site 0.00000873
590. 237802500 c.7114C>A p.L2372I missense 0.00000870
591. 237802500 c.7114C>T p.L2372F missense 0.00000870
592. 237880534 c.10360C>T p.R3454C missense 0.00000869
593. 237838122 c.8806G>A p.A2936T missense 0.00000869
594. 237789096 c.6158A>G p.K2053R missense 0.00000868
595. 237802497 c.7111A>G p.T2371A missense 0.00000867
596. 237897055 c.11090A>G p.K3697R missense 0.00000867
597. 237872263 c.10007A>C p.E3336A missense 0.00000866
598. 237880645 c.10471C>G p.L3491V missense 0.00000865
599. 237754018 c.3886A>G p.N1296D missense 0.00000865
600. 237838117 c.8801A>G p.D2934G missense 0.00000864
601. 237670041 c.2645G>A p.R882K missense 0.00000864
602. 237802494 c.7108A>G p.K2370E missense 0.00000864
603. 237872265 c.10009G>A p.E3337K missense 0.00000864
604. 237780641 c.5771C>G p.A1924G missense 0.00000863
605. 237711742 c.2918C>G p.T973R missense 0.00000862
606. 237754020 c.3888C>A p.N1296K missense 0.00000862
607. 237872268 c.10012G>A p.D3338N missense 0.00000862
608. 237872270 c.10014C>G p.D3338E missense 0.00000861
609. 237947221 c.12209C>T p.A4070V missense 0.00000860
610. 237947221 c.12209C>A p.A4070E missense 0.00000860
611. 237880547 c.10373G>A p.R3458Q missense 0.00000860
612. 237897012 c.11047G>A p.E3683K missense 0.00000859
613. 237778082 c.5654G>C p.G1885A missense 0.00000859
614. 237897033 c.11068G>C p.A3690P missense 0.00000858
615. 237947223 c.12211G>A p.E4071K missense 0.00000857
616. 237947229 c.12217G>A p.D4073N missense 0.00000857
617. 237791185 c.6245G>A p.R2082K missense 0.00000857
618. 237670046 c.2650A>G p.K884E missense 0.00000857
619. 237789088 c.6150T>G p.S2050R missense 0.00000856
620. 237947230 c.12218A>G p.D4073G missense 0.00000856
621. 237729870 c.3218C>A p.A1073D missense 0.00000856
622. 237995926 c.14883G>T p.Q4961H missense 0.00000856
623. 237947248 c.12236A>G p.D4079G missense 0.00000855
624. 237872280 c.10024G>C p.A3342P missense 0.00000855
625. 237947128 c.12116G>T p.G4039V missense 0.00000854
626. 237947188 c.12176C>T p.T4059M missense 0.00000854
627. 237765349 c.4621C>T p.P1541S missense 0.00000854
628. 237732587 c.3566A>G p.E1189G missense 0.00000854
629. 237947261 c.12249C>A p.F4083L missense 0.00000854
630. 237947269 c.12257G>A p.R4086H missense 0.00000853
631. 237872389 c.10133A>C p.D3378A missense 0.00000853
632. 237838074 c.8758C>T p.R2920X nonsense 0.00000853
633. 237872283 c.10027G>C p.E3343Q missense 0.00000852
634. 237838075 c.8759G>A p.R2920Q missense 0.00000852
635. 237947179 c.12167A>G p.K4056R missense 0.00000852
636. 237670052 c.2656G>C p.A886P missense 0.00000851
637. 237947175 c.12163C>G p.H4055D missense 0.00000851
638. 237711756 c.2932C>G p.P978A missense 0.00000850
639. 237754028 c.3896T>G p.I1299S missense 0.00000850
640. 237664020 c.2213C>G p.A738G missense 0.00000850
641. 237947172 c.12160A>G p.S4054G missense 0.00000850
642. 237551452 c.742C>T p.P248S missense 0.00000850
643. 237872291 c.10035G>C p.R3345S missense 0.00000849
644. 237947154 c.12142T>G p.F4048V missense 0.00000849
645. 237965217 c.14151+1G>A essential splice site 0.00000849
646. 237880572 c.10398T>G p.I3466M missense 0.00000849
647. 237670055 c.2659G>A p.E887K missense 0.00000849
648. 237817704 c.7955T>C p.L2652P missense 0.00000849
649. 237666651 c.2459C>G p.A820G missense 0.00000848
650. 237604776 c.1163A>G p.Q388R missense 0.00000848
651. 237880579 c.10405G>T p.A3469S missense 0.00000847
652. 237936822 c.11649A>T p.E3883D missense 0.00000847
653. 237754031 c.3899T>C p.M1300T missense 0.00000847
654. 237995912 c.14869T>A p.C4957S missense 0.00000847
655. 237794805 c.6519G>T p.E2173D missense 0.00000847
656. 237947295 c.12283G>A p.G4095S missense 0.00000847
657. 237947800 c.12788G>A p.S4263N missense 0.00000847
658. 237754030 c.3898A>C p.M1300L missense 0.00000847
659. 237872295 c.10039G>A p.D3347N missense 0.00000847
660. 237947775 c.12763C>T p.L4255F missense 0.00000846
661. 237948047 c.13035T>A p.D4345E missense 0.00000846
662. 237711765 c.2941A>G p.M981V missense 0.00000846
663. 237551447 c.737C>T p.T246I missense 0.00000846
664. 237880618 c.10444G>T p.A3482S missense 0.00000846
665. 237604775 c.1162C>A p.Q388K missense 0.00000846
666. 237948034 c.13022A>C p.E4341A missense 0.00000845
667. 237872301 c.10045T>A p.S3349T missense 0.00000845
668. 237778069 c.5641G>A p.E1881K missense 0.00000845
669. 237754032 c.3900G>A p.M1300I missense 0.00000845
670. 237947758 c.12746G>C p.R4249T missense 0.00000845
671. 237753275 c.3781G>T p.V1261F missense 0.00000845
672. 237947763 c.12751A>G p.N4251D missense 0.00000845
673. 237947823 c.12811G>A p.V4271I missense 0.00000845
674. 237947829 c.12817A>G p.K4273E missense 0.00000843
675. 237947740 c.12728C>A p.S4243X nonsense 0.00000843
676. 237791194 c.6254T>C p.F2085S missense 0.00000843
677. 237604772 c.1159A>C p.I387L missense 0.00000843
678. 237754034 c.3902T>G p.F1301C missense 0.00000843
679. 237551438 c.728A>G p.E243G missense 0.00000842
680. 237791376 c.6436T>G p.L2146V missense 0.00000842
681. 237664025 c.2218A>G p.T740A missense 0.00000842
682. 237948020 c.13008C>A p.D4336E missense 0.00000842
683. 237551431 c.721A>G p.M241V missense 0.00000841
684. 237666656 c.2464T>G p.C822G missense 0.00000841
685. 237936868 c.11695G>A p.D3899N missense 0.00000841
686. 237551395 c.685A>G p.I229V missense 0.00000841
687. 237711775 c.2951G>A p.S984N missense 0.00000841
688. 237802464 c.7078G>A p.D2360N missense 0.00000840
689. 237551429 c.719A>G p.H240R missense 0.00000840
690. 237947310 c.12298G>A p.V4100I missense 0.00000840
691. 237758946 c.4585A>C p.T1529P missense 0.00000839
692. 237754039 c.3907C>T p.R1303C missense 0.00000839
693. 237664028 c.2221G>T p.V741L missense 0.00000839
694. 237604767 c.1154G>C p.G385A missense 0.00000839
695. 237955531 c.13690A>G p.S4564G missense 0.00000839
696. 237632489 c.1708+2T>C essential splice site 0.00000839
697. 237817689 c.7940G>A p.G2647D missense 0.00000839
698. 237965199 c.14134G>T p.V4712F missense 0.00000839
699. 237666657 c.2465G>A p.C822Y missense 0.00000839
700. 237802461 c.7075C>T p.Arg2359Ter nonsense 0.00000839
701. 237791370 c.6430C>T p.R2144C missense 0.00000838
702. 237817685 c.7936T>A p.W2646R missense 0.00000838
703. 237664029 c.2222T>C p.V741A missense 0.00000838
704. 237870266 c.9598A>G p.N3200D missense 0.00000838
705. 237947712 c.12700G>A p.A4234T missense 0.00000838
706. 237817683 c.7934T>G p.F2645C missense 0.00000837
707. 237711796 c.2972C>T p.S991L missense 0.00000837
708. 237802449 c.7063G>A p.E2355K missense 0.00000837
709. 237965183 c.14118G>C p.Q4706H missense 0.00000837
710. 237947847 c.12835A>G p.M4279V missense 0.00000837
711. 237957289 c.13905C>G p.I4635M missense 0.00000837
712. 237947707 c.12695G>A p.R4232K missense 0.00000837
713. 237870268 c.9600T>A p.N3200K missense 0.00000837
714. 237758938 c.4577A>T p.E1526V missense 0.00000837
715. 237711889 c.3065A>G p.Q1022R missense 0.00000837
716. 237872329 c.10073A>G p.E3358G missense 0.00000837
717. 237957249 c.13865C>T p.S4622L missense 0.00000837
718. 237893609 c.10888G>A p.E3630K missense 0.00000836
719. 237947853 c.12841A>T p.T4281S missense 0.00000836
720. 237957284 c.13900G>A p.V4634I missense 0.00000836
721. 237893612 c.10891A>G p.T3631A missense 0.00000836
722. 237957259 c.13875T>G p.D4625E missense 0.00000836
723. 237580350 c.775A>G p.T259A missense 0.00000836
724. 237580411 c.836C>T p.T279M missense 0.00000836
725. 237947995 c.12983C>T p.A4328V missense 0.00000836
726. 237948099 c.13087C>G p.L4363V missense 0.00000836
727. 237893609 c.10888G>C p.E3630Q missense 0.00000836
728. 237881796 c.10529G>A p.R3510H missense 0.00000836
729. 237580351 c.776C>A p.T259N missense 0.00000836
730. 237957291 c.13907A>G p.N4636S missense 0.00000836
731. 237802446 c.7060G>T p.A2354S missense 0.00000836
732. 237540713 c.554G>C p.S185T missense 0.00000836
733. 237948100 c.13088T>C p.L4363P missense 0.00000836
734. 237881783 c.10516C>T p.R3506X nonsense 0.00000835
735. 237778027 c.5599G>T p.Glu1867Ter nonsense 0.00000835
736. 237778028 c.5600A>T p.E1867V missense 0.00000835
737. 237881789 c.10522A>G p.I3508V missense 0.00000835
738. 237756934 c.4434A>C p.E1478D missense 0.00000835
739. 237789062 c.6124A>C p.K2042Q missense 0.00000835
740. 237817678 c.7929G>C p.K2643N missense 0.00000835
741. 237617822 c.1424A>G p.K475R missense 0.00000835
742. 237753254 c.3760A>G p.R1254G missense 0.00000835
743. 237787161 c.6013A>G p.T2005A missense 0.00000835
744. 237802347 c.6961G>T p.V2321L missense 0.00000835
745. 237802419 c.7033G>A p.A2345T missense 0.00000834
746. 237955559 c.13718G>A p.R4573H missense 0.00000834
747. 237802363 c.6977G>A p.R2326Q missense 0.00000834
748. 237947991 c.12979G>C p.V4327L missense 0.00000834
749. 237947863 c.12851T>C p.F4284S missense 0.00000834
750. 237802425 c.7039A>G p.M2347V missense 0.00000834
751. 237540664 c.505C>T p.R169X nonsense 0.00000834
752. 237617821 c.1423A>C p.K475Q missense 0.00000834
753. 237890472 c.10811G>T p.R3604L missense 0.00000834
754. 237619918 c.1495C>T p.L499F missense 0.00000834
755. 237947866 c.12854C>T p.S4285L missense 0.00000834
756. 237955558 c.13717C>A p.R4573S missense 0.00000834
757. 237895350 c.10940C>G p.P3647R missense 0.00000834
758. 237955553 c.13712C>T p.T4571M missense 0.00000834
759. 237993931 c.14756+1G>A essential splice site 0.00000833
760. 237732536 c.3515C>T p.T1172I missense 0.00000833
761. 237604748 c.1135G>T p.V379L missense 0.00000833
762. 237778003 c.5575G>A p.E1859K missense 0.00000833
763. 237947871 c.12859T>C p.Y4287H missense 0.00000833
764. 237732538 c.3517A>G p.M1173V missense 0.00000833
765. 237802380 c.6994G>T p.G2332C missense 0.00000833
766. 237919660 c.11218G>T p.V3740L missense 0.00000833
767. 237753250 c.3756C>G p.S1252R missense 0.00000833
768. 237947873 c.12861C>A p.Tyr4287Ter nonsense 0.00000833
769. 237540668 c.509C>G p.S170X nonsense 0.00000833
770. 237619922 c.1499A>C p.E500A missense 0.00000833
771. 237802383 c.6997C>A p.P2333T missense 0.00000833
772. 237802398 c.7012G>C p.E2338Q missense 0.00000833
773. 237732535 c.3514A>T p.T1172S missense 0.00000833
774. 237791319 c.6379C>G p.R2127G missense 0.00000833
775. 237791219 c.6279C>A p.D2093E missense 0.00000833
776. 237778001 c.5573A>G p.E1858G missense 0.00000833
777. 237619933 c.1510C>T p.R504C missense 0.00000832
778. 237580363 c.788A>C p.E263A missense 0.00000832
779. 237969438 c.14153C>A p.S4718Y missense 0.00000832
780. 237947684 c.12672G>C p.E4224D missense 0.00000832
781. 237580389 c.814C>T p.R272C missense 0.00000832
782. 237732529 c.3508G>A p.E1170K missense 0.00000832
783. 237895446 c.11036A>G p.K3679R missense 0.00000832
784. 237870452 c.9784G>A p.E3262K missense 0.00000832
785. 237619932 c.1509C>A p.D503E missense 0.00000832
786. 237617805 c.1407T>G p.H469Q missense 0.00000832
787. 237580371 c.796G>T p.A266S missense 0.00000832
788. 237777378 c.4950G>C p.L1650F missense 0.00000832
789. 237777970 c.5542C>T p.P1848S missense 0.00000832
790. 237758902 c.4541C>T p.A1514V missense 0.00000832
791. 237617717 c.1319C>A p.A440E missense 0.00000832
792. 237732533 c.3512A>G p.H1171R missense 0.00000832
793. 237817665 c.7916A>G p.H2639R missense 0.00000832
794. 237580375 c.800T>G p.V267G missense 0.00000832
795. 237632472 c.1693C>G p.L565V missense 0.00000832
796. 237754247 c.4115A>G p.N1372S missense 0.00000832
797. 237780752 c.5882A>C p.K1961T missense 0.00000832
798. 237617716 c.1318G>A p.A440T missense 0.00000832
799. 237604746 c.1133A>C p.D378A missense 0.00000832
800. 237580383 c.808C>T p.H270Y missense 0.00000832
801. 237947880 c.12868A>T p.I4290F missense 0.00000832
802. 237632395 c.1616C>T p.A539V missense 0.00000832
803. 237895444 c.11034G>T p.E3678D missense 0.00000832
804. 237870450 c.9782C>T p.A3261V missense 0.00000832
805. 237619931 c.1508A>G p.D503G missense 0.00000832
806. 237947974 c.12962G>T p.G4321V missense 0.00000831
807. 237617734 c.1336G>A p.D446N missense 0.00000831
808. 237791280 c.6340G>C p.E2114Q missense 0.00000831
809. 237870290 c.9622A>G p.I3208V missense 0.00000831
810. 237777963 c.5535G>T p.L1845F missense 0.00000831
811. 237777386 c.4958T>G p.F1653C missense 0.00000831
812. 237711864 c.3040C>T p.Q1014X nonsense 0.00000831
813. 237919639 c.11197G>A p.D3733N missense 0.00000831
814. 237617789 c.1391_1392insC p.Asp467ArgfsTer2 frameshift 0.00000831
815. 237777916 c.5488A>G p.I1830V missense 0.00000831
816. 237947673 c.12661A>G p.S4221G missense 0.00000831
817. 237870293 c.9625C>A p.P3209T missense 0.00000831
818. 237791272 c.6332T>C p.V2111A missense 0.00000831
819. 237617743 c.1345A>G p.I449V missense 0.00000831
820. 237754048 c.3916A>G p.M1306V missense 0.00000831
821. 237617779 c.1381G>T p.G461C missense 0.00000831
822. 237780733 c.5863G>T p.A1955S missense 0.00000831
823. 237791235 c.6295G>A p.V2099I missense 0.00000831
824. 237729896 c.3244G>A p.G1082R missense 0.00000831
825. 237787092 c.5944G>C p.D1982H missense 0.00000831
826. 237791296 c.6356T>C p.L2119P missense 0.00000831
827. 237787148 c.6000T>G p.H2000Q missense 0.00000831
828. 237711861 c.3037C>T p.R1013W missense 0.00000831
829. 237947676 c.12664G>A p.E4222K missense 0.00000831
830. 237777941 c.5513A>G p.D1838G missense 0.00000831
831. 237947381 c.12369G>C p.E4123D missense 0.00000831
832. 237890408 c.10747A>C p.K3583Q missense 0.00000831
833. 237711862 c.3038G>T p.R1013L missense 0.00000831
834. 237919624 c.11182C>G p.Q3728E missense 0.00000831
835. 237732524 c.3503T>C p.M1168T missense 0.00000831
836. 237947670 c.12658G>A p.E4220K missense 0.00000831
837. 237895415 c.11005C>T p.L3669F missense 0.00000830
838. 237780694 c.5824T>C p.F1942L missense 0.00000830
839. 237632457 c.1678A>T p.S560C missense 0.00000830
840. 237732470 c.3449A>G p.E1150G missense 0.00000830
841. 237711852 c.3028G>T p.D1010Y missense 0.00000830
842. 237895382 c.10972A>C p.T3658P missense 0.00000830
843. 237947659 c.12647C>T p.A4216V missense 0.00000830
844. 237617777 c.1379T>C p.I460T missense 0.00000830
845. 237758865 c.4504A>G p.N1502D missense 0.00000830
846. 237753132 c.3638G>C p.G1213A missense 0.00000830
847. 237632419 c.1640A>C p.N547T missense 0.00000830
848. 237711835 c.3011A>C p.H1004P missense 0.00000830
849. 237789043 c.6105G>C p.K2035N missense 0.00000830
850. 237753232 c.3738T>A p.D1246E missense 0.00000830
851. 237620023 c.1600T>C p.Y534H missense 0.00000830
852. 237632457 c.1678A>G p.S560G missense 0.00000830
853. 237732481 c.3460C>T p.R1154C missense 0.00000830
854. 237711852 c.3028G>A p.D1010N missense 0.00000830
855. 237895383 c.10973C>G p.T3658S missense 0.00000830
856. 237796993 c.6671A>C p.N2224T missense 0.00000830
857. 237777850 c.5422G>T p.D1808Y missense 0.00000830
858. 237753135 c.3641G>A p.R1214K missense 0.00000830
859. 237632450 c.1671G>A p.W557X nonsense 0.00000830
860. 237619957 c.1534G>C p.A512P missense 0.00000830
861. 237711837 c.3013A>G p.N1005D missense 0.00000830
862. 237756794 c.4294A>C p.I1432L missense 0.00000830
863. 237604728 c.1115T>A p.L372H missense 0.00000830
864. 237969457 c.14172G>C p.W4724C missense 0.00000830
865. 237777877 c.5449C>G p.L1817V missense 0.00000830
866. 237837465 c.8660A>C p.E2887A missense 0.00000830
867. 237617744 c.1346T>G p.I449R missense 0.00000830
868. 237777400 c.4972C>G p.L1658V missense 0.00000830
869. 237895385 c.10975A>C p.K3659Q missense 0.00000830
870. 237895388 c.10978delA p.Arg3660GlufsTer8 frameshift 0.00000830
871. 237837411 c.8606C>T p.P2869L missense 0.00000830
872. 237947904 c.12892G>A p.V4298M missense 0.00000830
873. 237617768 c.1370A>G p.Q457R missense 0.00000830
874. 237780691 c.5821C>A p.R1941S missense 0.00000830
875. 237664049 c.2242C>A p.L748M missense 0.00000830
876. 237666675 c.2483C>A p.P828Q missense 0.00000830
877. 237711822 c.2998G>T p.A1000S missense 0.00000830
878. 237664067 c.2260G>T p.V754F missense 0.00000829
879. 237947428 c.12416T>C p.M4139T missense 0.00000829
880. 237777488 c.5060A>C p.Y1687S missense 0.00000829
881. 237777835 c.5407A>T p.S1803C missense 0.00000829
882. 237753198 c.3704G>A p.G1235D missense 0.00000829
883. 237813193 c.7529C>T p.T2510I missense 0.00000829
884. 237619995 c.1572G>C p.E524D missense 0.00000829
885. 237777604 c.5176A>G p.I1726V missense 0.00000829
886. 237754150 c.4018G>C p.D1340H missense 0.00000829
887. 237756840 c.4340C>T p.T1447I missense 0.00000829
888. 237777541 c.5113C>G p.L1705V missense 0.00000829
889. 237796978 c.6656G>A p.S2219N missense 0.00000829
890. 237586495 c.952G>A p.D318N missense 0.00000829
891. 237837434 c.8629C>A p.L2877M missense 0.00000829
892. 237777440 c.5012G>A p.R1671Q missense 0.00000829
893. 237494280 c.271G>C p.G91R missense 0.00000829
894. 237754204 c.4072C>T p.R1358C missense 0.00000829
895. 237947913 c.12901G>C p.V4301L missense 0.00000829
896. 237777811 c.5383C>A p.L1795M missense 0.00000829
897. 237969558 c.14273C>T p.S4758F missense 0.00000829
898. 237777653 c.5225A>G p.E1742G missense 0.00000829
899. 237777582 c.5154G>T p.R1718S missense 0.00000829
900. 237817640 c.7891G>T p.G2631C missense 0.00000829
901. 237604705 c.1092A>C p.Q364H missense 0.00000829
902. 237777494 c.5066T>C p.I1689T missense 0.00000829
903. 237608779 c.1249C>G p.R417G missense 0.00000829
904. 237777836 c.5408G>T p.S1803I missense 0.00000829
905. 237777418 c.4990G>T p.V1664F missense 0.00000829
906. 237870341 c.9673G>A p.G3225S missense 0.00000829
907. 237921026 c.11275C>A p.L3759M missense 0.00000829
908. 237777663 c.5235_5236delAC p.His1746ArgfsTer26 frameshift 0.00000829
909. 237756861 c.4361A>G p.D1454G missense 0.00000829
910. 237813195 c.7531G>A p.D2511N missense 0.00000829
911. 237620003 c.1580A>G p.K527R missense 0.00000829
912. 237711802 c.2978A>G p.E993G missense 0.00000829
913. 237777553 c.5125A>C p.I1709L missense 0.00000829
914. 237837462 c.8657G>C p.R2886T missense 0.00000829
915. 237777815 c.5387C>T p.T1796I missense 0.00000829
916. 237947415 c.12403C>T p.R4135C missense 0.00000829
917. 237754211 c.4079A>G p.D1360G missense 0.00000829
918. 237608702 c.1172C>G p.A391G missense 0.00000829
919. 237921001 c.11250A>C p.E3750D missense 0.00000829
920. 237756897 c.4397C>T p.T1466I missense 0.00000829
921. 237608713 c.1183C>T p.H395Y missense 0.00000829
922. 237753171 c.3677A>G p.Y1226C missense 0.00000829
923. 237777583 c.5155C>T p.L1719F missense 0.00000829
924. 237777842 c.5414A>G p.H1805R missense 0.00000829
925. 237947439 c.12427A>G p.K4143E missense 0.00000829
926. 237870406 c.9738G>A p.M3246I missense 0.00000829
927. 237942017 c.11827G>A p.A3943T missense 0.00000829
928. 237982395 c.14493C>G p.I4831M missense 0.00000829
929. 237604637 c.1024G>A p.V342M missense 0.00000829
930. 237608770 c.1240C>T p.R414C missense 0.00000829
931. 237754064 c.3932C>T p.A1311V missense 0.00000829
932. 237777838 c.5410C>T p.L1804F missense 0.00000829
933. 237921044 c.11293A>G p.I3765V missense 0.00000829
934. 237756884 c.4384G>A p.V1462I missense 0.00000829
935. 237813199 c.7535T>C p.M2512T missense 0.00000829
936. 237620009 c.1586T>C p.I529T missense 0.00000829
937. 237729908 c.3256C>T p.R1086X nonsense 0.00000829
938. 237947601 c.12589A>G p.I4197V missense 0.00000829
939. 237711818 c.2994G>T p.K998N missense 0.00000829
940. 237777574 c.5146A>T p.T1716S missense 0.00000829
941. 237586483 c.940_942delCTT p.Leu316del inframe 0.00000829
942. 237604683 c.1070G>A p.G357D missense 0.00000829
943. 237586408 c.865A>G p.I289V missense 0.00000829
944. 237777832 c.5404G>A p.G1802S missense 0.00000829
945. 237753165 c.3671T>C p.L1224S missense 0.00000829
946. 237923143 c.11393A>C p.Q3798P missense 0.00000829
947. 237777689 c.5261G>C p.S1754T missense 0.00000829
948. 237608767 c.1237T>C p.S413P missense 0.00000829
949. 237777586 c.5158A>G p.M1720V missense 0.00000829
950. 237753190 c.3696A>T p.L1232F missense 0.00000829
951. 237870418 c.9750G>T p.W3250C missense 0.00000829
952. 237586492 c.949A>G p.M317V missense 0.00000829
953. 237777844 c.5416G>A p.A1806T missense 0.00000829
954. 237777530 c.5102G>C p.G1701A missense 0.00000829
955. 237619982 c.1559G>A p.R520Q missense 0.00000829
956. 237777439 c.5011C>T p.R1671W missense 0.00000829
957. 237754181 c.4049C>T p.A1350V missense 0.00000829
958. 237923091 c.11341C>T p.L3781F missense 0.00000829
959. 237777635 c.5207T>G p.I1736S missense 0.00000829
960. 237604691 c.1078G>A p.V360I missense 0.00000829
961. 237789030 c.6092C>T p.S2031F missense 0.00000829
962. 237777582 c.5154G>C p.R1718S missense 0.00000829
963. 237608737 c.1207A>G p.I403V missense 0.00000829
964. 237494212 c.203T>G p.V68G missense 0.00000828
965. 237870371 c.9703A>G p.M3235V missense 0.00000828
966. 237586427 c.884T>C p.F295S missense 0.00000828
967. 237806687 c.7282C>T p.P2428S missense 0.00000828
968. 237777733 c.5305G>T p.V1769L missense 0.00000828
969. 237813355 c.7691C>T p.A2564V missense 0.00000828
970. 237886513 c.10640C>G p.T3547R missense 0.00000828
971. 237972306 c.14404C>T p.P4802S missense 0.00000828
972. 237754123 c.3991A>C p.K1331Q missense 0.00000828
973. 237813238 c.7574T>C p.L2525S missense 0.00000828
974. 237664109 c.2302T>G p.F768V missense 0.00000828
975. 237666739 c.2547C>A p.D849E missense 0.00000828
976. 237659930 c.2081G>A p.R694Q missense 0.00000828
977. 237801727 c.6863T>C p.I2288T missense 0.00000828
978. 237659858 c.2009A>G p.Y670C missense 0.00000828
979. 237659950 c.2101G>C p.E701Q missense 0.00000828
980. 237813363 c.7699G>A p.D2567N missense 0.00000828
981. 237982465 c.14563A>G p.I4855V missense 0.00000828
982. 237870347 c.9679C>T p.R3227C missense 0.00000828
983. 237754103 c.3971G>C p.G1324A missense 0.00000828
984. 237923098 c.11348A>T p.E3783V missense 0.00000828
985. 237664141 c.2334G>C p.M778I missense 0.00000828
986. 237813292 c.7628C>T p.S2543F missense 0.00000828
987. 237550633 c.629C>T p.T210I missense 0.00000828
988. 237813216 c.7552C>T p.R2518W missense 0.00000828
989. 237730013 c.3361G>A p.G1121S missense 0.00000828
990. 237666698 c.2506C>A p.H836N missense 0.00000828
991. 237806687 c.7282C>G p.P2428A missense 0.00000828
992. 237494226 c.217C>G p.L73V missense 0.00000828
993. 237659878 c.2029T>A p.L677M missense 0.00000828
994. 237586436 c.893G>A p.R298H missense 0.00000828
995. 237754135 c.4003G>A p.E1335K missense 0.00000828
996. 237777764 c.5336G>A p.S1779N missense 0.00000828
997. 237664181 c.2374G>A p.V792I missense 0.00000828
998. 237972324 c.14422G>A p.D4808N missense 0.00000828
999. 237813276 c.7612A>G p.T2538A missense 0.00000828
1000. 237777706 c.5278C>G p.R1760G missense 0.00000828
1001. 237664113 c.2306G>A p.R769Q missense 0.00000828
1002. 237664164 c.2357G>A p.G786D missense 0.00000828
1003. 237801748 c.6884G>A p.G2295E missense 0.00000828
1004. 237666749 c.2557C>T p.P853S missense 0.00000828
1005. 237788994 c.6056G>A p.G2019E missense 0.00000828
1006. 237947592 c.12580G>A p.E4194K missense 0.00000828
1007. 237659974 c.2125G>T p.G709W missense 0.00000828
1008. 237729947 c.3295G>C p.G1099R missense 0.00000828
1009. 237870348 c.9680G>A p.R3227H missense 0.00000828
1010. 237813361 c.7697G>T p.R2566L missense 0.00000828
1011. 237494205 c.196A>G p.T66A missense 0.00000828
1012. 237813370 c.7706T>C p.I2569T missense 0.00000828
1013. 237993852 c.14678T>C p.I4893T missense 0.00000828
1014. 237813298 c.7634T>C p.I2545T missense 0.00000828
1015. 237777727 c.5299A>G p.S1767G missense 0.00000828
1016. 237923112 c.11362G>A p.G3788S missense 0.00000828
1017. 237813223 c.7559T>C p.L2520P missense 0.00000828
1018. 237550627 c.623A>G p.Q208R missense 0.00000828
1019. 237729918 c.3266G>A p.R1089H missense 0.00000828
1020. 237729924 c.3272_3274delAGA p.Lys1092del inframe 0.00000828
1021. 237666705 c.2513G>A p.R838Q missense 0.00000828
1022. 237494263 c.254C>T p.T85I missense 0.00000828
1023. 237796884 c.6562A>C p.T2188P missense 0.00000828
1024. 237586440 c.897T>A p.H299Q missense 0.00000828
1025. 237813361 c.7697G>C p.R2566P missense 0.00000828
1026. 237777785 c.5357T>C p.I1786T missense 0.00000828
1027. 237777707 c.5279G>A p.R1760Q missense 0.00000828
1028. 237664127 c.2320C>A p.P774T missense 0.00000828
1029. 237754129 c.3997G>A p.D1333N missense 0.00000828
1030. 237801787 c.6923G>C p.C2308S missense 0.00000828
1031. 237789015 c.6077G>C p.R2026T missense 0.00000828
1032. 237972271 c.14369G>A p.R4790Q missense 0.00000828
1033. 237664080 c.2273G>C p.C758S missense 0.00000828
1034. 237660012 c.2163T>A p.D721E missense 0.00000828
1035. 237813378 c.7714T>G p.C2572G missense 0.00000828
1036. 237586422 c.879G>C p.Q293H missense 0.00000828
1037. 237993862 c.14688T>A p.D4896E missense 0.00000828
1038. 237870361 c.9693G>A p.M3231I missense 0.00000828
1039. 237813363 c.7699G>T p.D2567Y missense 0.00000828
1040. 237659972 c.2123G>C p.G708A missense 0.00000828
1041. 237494211 c.202G>C p.V68L missense 0.00000828
1042. 237993842 c.14668A>G p.I4890V missense 0.00000828
1043. 237813318 c.7654G>A p.V2552M missense 0.00000828
1044. 237886504 c.10631C>T p.P3544L missense 0.00000828
1045. 237754121 c.3989C>G p.P1330R missense 0.00000828
1046. 237777730 c.5302T>C p.F1768L missense 0.00000828
1047. 237664160 c.2353G>A p.D785N missense 0.00000828
1048. 237550629 c.625C>G p.Q209E missense 0.00000828
1049. 237664107 c.2300C>T p.S767L missense 0.00000828
1050. 237813228 c.7564A>C p.T2522P missense 0.00000828
1051. 237666734 c.2542C>T p.R848C missense 0.00000828
1052. 237801675 c.6811G>A p.G2271S missense 0.00000828
1053. 237796885 c.6563C>G p.T2188S missense 0.00000828
1054. 237729939 c.3287T>C p.V1096A missense 0.00000828
1055. 237806717 c.7312A>C p.I2438L missense 0.00000828
1056. 237947550 c.12538G>C p.G4180R missense 0.00000828
1057. 237813361 c.7697G>A p.R2566Q missense 0.00000828
1058. 237494235 c.226C>T p.R76W missense 0.00000828
1059. 237982415 c.14513A>G p.E4838G missense 0.00000828
1060. 237777713 c.5285A>C p.Q1762P missense 0.00000828
1061. 237664130 c.2323G>A p.V775I missense 0.00000828
1062. 237969533 c.14248T>C p.F4750L missense 0.00000828
1063. 237813210 c.7546C>T p.L2516F missense 0.00000828
1064. 237494244 c.235C>A p.Q79K missense 0.00000828
1065. 237666762 c.2570T>A p.L857Q missense 0.00000828
1066. 237729984 c.3332G>C p.G1111A 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.