DSP protein-altering variants in ExAC


The table below lists the DSP 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. 7580913 c.4490G>A p.R1497Q missense 0.00009986
2. 7583814 c.6319G>C p.V2107L missense 0.00009914
3. 7576579 c.2683T>C p.Y895H missense 0.00009887
4. 7580039 c.3616T>A p.L1206I missense 0.00009158
5. 7580259 c.3836C>T p.A1279V missense 0.00009142
6. 7580124 c.3701A>G p.N1234S missense 0.00009136
7. 7580540 c.4117A>G p.T1373A missense 0.00009109
8. 7581324 c.4901G>A p.R1634Q missense 0.00008416
9. 7581747 c.5324G>T p.R1775I missense 0.00008338
10. 7579698 c.3275C>T p.S1092L missense 0.00008302
11. 7580441 c.4018C>T p.R1340C missense 0.00008295
12. 7574476 c.2288A>G p.Y763C missense 0.00008269
13. 7580598 c.4175G>A p.R1392Q missense 0.00008266
14. 7583946 c.6451C>T p.R2151W missense 0.00008262
15. 7581645 c.5222C>T p.A1741V missense 0.00008256
16. 7565703 c.889G>A p.D297N missense 0.00008240
17. 7583112 c.5617C>T p.R1873C missense 0.00008239
18. 7574952 c.2360A>G p.Y787C missense 0.00008236
19. 7577197 c.2799G>C p.L933F missense 0.00007513
20. 7580937 c.4514C>T p.A1505V missense 0.00007491
21. 7580129 c.3706A>G p.R1236G missense 0.00007478
22. 7580445 c.4022G>A p.R1341H missense 0.00007466
23. 7566613 c.943C>T p.R315C missense 0.00007456
24. 7582881 c.5386A>G p.N1796D missense 0.00007438
25. 7583840 c.6345G>T p.L2115F missense 0.00007437
26. 7581644 c.5221G>A p.A1741T missense 0.00007431
27. 7578716 c.3005G>A p.R1002Q missense 0.00007418
28. 7567645 c.1103T>C p.I368T missense 0.00007413
29. 7581309 c.4886G>T p.S1629I missense 0.00006747
30. 7579985 c.3562T>C p.Y1188H missense 0.00006715
31. 7581338 c.4915G>A p.V1639M missense 0.00006704
32. 7581419 c.4996C>T p.R1666W missense 0.00006658
33. 7580808 c.4385G>T p.S1462I missense 0.00006626
34. 7582993 c.5498A>G p.E1833G missense 0.00006610
35. 7576562 c.2666G>A p.R889K missense 0.00006591
36. 7562930 c.643G>A p.E215K missense 0.00006589
37. 7542186 c.38C>T p.T13I missense 0.00006508
38. 7542203 c.55C>T p.R19C missense 0.00006007
39. 7581786 c.5363A>G p.Q1788R missense 0.00005925
40. 7579974 c.3551G>A p.R1184Q missense 0.00005887
41. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849
42. 7579569 c.3146C>T p.S1049L missense 0.00005836
43. 7580981 c.4558A>G p.S1520G missense 0.00005826
44. 7581485 c.5062G>A p.A1688T missense 0.00005822
45. 7580379 c.3956C>G p.T1319S missense 0.00005810
46. 7580796 c.4373G>A p.R1458Q missense 0.00005793
47. 7584213 c.6718C>G p.Q2240E missense 0.00005772
48. 7574382 c.2194A>G p.N732D missense 0.00005769
49. 7583008 c.5513G>A p.R1838H missense 0.00005767
50. 7558419 c.344A>G p.N115S missense 0.00005766
51. 7575559 c.2468C>T p.S823L missense 0.00005766
52. 7584060 c.6565C>T p.R2189W missense 0.00005766
53. 7559557 c.521G>T p.C174F missense 0.00005765
54. 7574937 c.2345A>G p.D782G missense 0.00005765
55. 7569500 c.1501G>A p.V501I missense 0.00005765
56. 7542194 c.46C>A p.R16S missense 0.00005609
57. 7586002 c.8507G>A p.G2836E missense 0.00005016
58. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011
59. 7580981 c.4558A>T p.S1520C missense 0.00004994
60. 7579761 c.3338G>A p.R1113Q missense 0.00004991
61. 7580494 c.4071G>C p.E1357D missense 0.00004975
62. 7585312 c.7817G>A p.S2606N missense 0.00004957
63. 7585668 c.8173C>T p.R2725C missense 0.00004948
64. 7572189 c.2018A>C p.Q673P missense 0.00004945
65. 7576540 c.2644G>A p.E882K missense 0.00004944
66. 7565730 c.916G>A p.A306T missense 0.00004944
67. 7562954 c.667G>A p.G223S missense 0.00004942
68. 7542305 c.157T>C p.S53P missense 0.00004444
69. 7577261 c.2863G>A p.A955T missense 0.00004280
70. 7579557 c.3134G>A p.R1045Q missense 0.00004176
71. 7579748 c.3325G>A p.E1109K missense 0.00004157
72. 7579727 c.3304G>A p.G1102S missense 0.00004154
73. 7585410 c.7915C>T p.R2639W missense 0.00004146
74. 7583742 c.6247C>T p.R2083C missense 0.00004146
75. 7585459 c.7964C>G p.A2655G missense 0.00004145
76. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141
77. 7583289 c.5794C>T p.R1932C missense 0.00004139
78. 7584859 c.7364C>T p.T2455I missense 0.00004132
79. 7583911 c.6416A>G p.N2139S missense 0.00004132
80. 7583974 c.6479G>A p.R2160Q missense 0.00004126
81. 7568821 c.1418A>G p.Q473R missense 0.00004124
82. 7585612 c.8117A>T p.K2706M missense 0.00004123
83. 7575713 c.2622C>G p.I874M missense 0.00004121
84. 7578715 c.3004C>T p.R1002W missense 0.00004121
85. 7572208 c.2037A>G p.I679M missense 0.00004120
86. 7583113 c.5618G>A p.R1873H missense 0.00004120
87. 7569425 c.1426G>A p.V476M missense 0.00004119
88. 7578093 c.2959T>A p.S987T missense 0.00004119
89. 7585201 c.7706C>T p.T2569I missense 0.00004119
90. 7584184 c.6689C>T p.P2230L missense 0.00004119
91. 7583017 c.5522C>T p.S1841L missense 0.00004119
92. 7585084 c.7589T>C p.I2530T missense 0.00004118
93. 7558375 c.300A>T p.Q100H missense 0.00004118
94. 7569533 c.1534A>G p.I512V missense 0.00004118
95. 7558389 c.314G>A p.R105Q missense 0.00004118
96. 7575660 c.2569G>A p.G857S missense 0.00004118
97. 7569467 c.1468C>T p.R490C missense 0.00004118
98. 7569468 c.1469G>A p.R490H missense 0.00004118
99. 7542294 c.146C>T p.T49I missense 0.00004074
100. 7542285 c.137G>A p.G46D missense 0.00003814
101. 7542284 c.136G>A p.G46S missense 0.00003796
102. 7542227 c.79C>T p.R27C missense 0.00003739
103. 7542279 c.131G>C p.R44P missense 0.00003694
104. 7579953 c.3530T>A p.L1177Q missense 0.00003359
105. 7581096 c.4673G>A p.R1558Q missense 0.00003336
106. 7581033 c.4610G>A p.R1537H missense 0.00003331
107. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330
108. 7580988 c.4565C>T p.T1522M missense 0.00003330
109. 7581420 c.4997G>A p.R1666Q missense 0.00003329
110. 7580183 c.3760G>A p.V1254I missense 0.00003329
111. 7580187 c.3764G>A p.R1255K missense 0.00003329
112. 7580300 c.3877A>G p.I1293V missense 0.00003321
113. 7583728 c.6233T>C p.I2078T missense 0.00003321
114. 7580837 c.4414G>T p.A1472S missense 0.00003318
115. 7580442 c.4019G>A p.R1340H missense 0.00003318
116. 7585347 c.7852C>T p.P2618S missense 0.00003312
117. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311
118. 7566704 c.1034A>G p.D345G missense 0.00003311
119. 7583376 c.5881G>A p.V1961I missense 0.00003309
120. 7585537 c.8042A>C p.D2681A missense 0.00003308
121. 7581606 c.5183G>A p.R1728K missense 0.00003307
122. 7580656 c.4233G>C p.R1411S missense 0.00003306
123. 7583805 c.6310delA frameshift 0.00003306
124. 7583892 c.6397G>A p.G2133S missense 0.00003306
125. 7572120 c.1949A>G p.N650S missense 0.00003306
126. 7583959 c.6464A>G p.D2155G missense 0.00003302
127. 7585728 c.8233A>G p.I2745V missense 0.00003301
128. 7584260 c.6765G>T p.Q2255H missense 0.00003301
129. 7585804 c.8309A>G p.Y2770C missense 0.00003301
130. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300
131. 7585667 c.8172G>T p.Q2724H missense 0.00003299
132. 7585885 c.8390T>C p.I2797T missense 0.00003299
133. 7576667 c.2771T>C p.M924T missense 0.00003298
134. 7571731 c.1817G>A p.R606Q missense 0.00003298
135. 7571754 c.1840G>A p.D614N missense 0.00003298
136. 7585869 c.8374T>A p.S2792T missense 0.00003298
137. 7582909 c.5414G>A p.C1805Y missense 0.00003297
138. 7582907 c.5412G>T p.Q1804H missense 0.00003297
139. 7576571 c.2675G>A p.R892H missense 0.00003296
140. 7584528 c.7033G>C p.G2345R missense 0.00003296
141. 7576631 c.2735T>C p.L912S missense 0.00003296
142. 7563982 c.740C>T p.A247V missense 0.00003295
143. 7575640 c.2549_2550insTCT p.D850delinsDL inframe 0.00003295
144. 7575631 c.2540C>G p.P847R missense 0.00003295
145. 7570725 c.1630A>C p.M544L missense 0.00003295
146. 7558415 c.340G>A p.A114T missense 0.00003295
147. 7575643 c.2552T>A p.L851Q missense 0.00003295
148. 7584061 c.6566G>A p.R2189Q missense 0.00003295
149. 7542209 c.61G>A p.E21K missense 0.00003129
150. 7542263 c.115A>G p.R39G missense 0.00003020
151. 7542255 c.107G>T p.G36V missense 0.00002863
152. 7542255 c.107G>C p.G36A missense 0.00002863
153. 7542252 c.104G>C p.G35A missense 0.00002714
154. 7556039 c.259C>G p.L87V missense 0.00002558
155. 7586085 c.8590T>C p.F2864L missense 0.00002525
156. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520
157. 7580023 c.3600T>G p.N1200K missense 0.00002506
158. 7581119 c.4696C>G p.L1566V missense 0.00002503
159. 7585977 c.8482G>A p.G2828S missense 0.00002503
160. 7581089 c.4666A>G p.I1556V missense 0.00002501
161. 7581080 c.4657G>A p.D1553N missense 0.00002500
162. 7580197 c.3774C>A p.D1258E missense 0.00002497
163. 7579590 c.3167A>G p.K1056R missense 0.00002497
164. 7581414 c.4991T>G p.L1664R missense 0.00002497
165. 7579811 c.3388G>A p.D1130N missense 0.00002497
166. 7580189 c.3766C>T p.L1256F missense 0.00002496
167. 7580223 c.3800G>A p.R1267Q missense 0.00002496
168. 7581486 c.5063C>T p.A1688V missense 0.00002495
169. 7580894 c.4471G>A p.D1491N missense 0.00002495
170. 7583718 c.6223C>T p.R2075W missense 0.00002494
171. 7579746 c.3323A>G p.N1108S missense 0.00002494
172. 7579649 c.3226C>T p.L1076F missense 0.00002491
173. 7580328 c.3905G>A p.R1302H missense 0.00002490
174. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488
175. 7580418 c.3995C>T p.A1332V missense 0.00002488
176. 7585489 c.7994C>T p.T2665M missense 0.00002486
177. 7580525 c.4102A>G p.T1368A missense 0.00002486
178. 7566614 c.944G>T p.R315L missense 0.00002485
179. 7566616 c.946A>G p.M316V missense 0.00002484
180. 7583550 c.6055G>T p.A2019S missense 0.00002484
181. 7583290 c.5795G>A p.R1932H missense 0.00002483
182. 7585539 c.8044C>G p.Q2682E missense 0.00002481
183. 7568095 c.1222A>C p.N408H missense 0.00002480
184. 7566631 c.961G>C p.V321L missense 0.00002480
185. 7559460 c.424C>T p.L142F missense 0.00002477
186. 7583454 c.5959G>A p.D1987N missense 0.00002476
187. 7585896 c.8401C>G p.R2801G missense 0.00002475
188. 7559632 c.596G>A p.R199K missense 0.00002474
189. 7571730 c.1816C>T p.R606W missense 0.00002474
190. 7568026 c.1153G>T p.A385S missense 0.00002474
191. 7585613 c.8118G>C p.K2706N missense 0.00002474
192. 7582912 c.5417C>G p.T1806S missense 0.00002473
193. 7572194 c.2023A>G p.I675V missense 0.00002472
194. 7572201 c.2030G>A p.R677K missense 0.00002472
195. 7565676 c.862G>A p.D288N missense 0.00002472
196. 7568677 c.1274G>A p.R425Q missense 0.00002472
197. 7584534 c.7039A>G p.I2347V missense 0.00002472
198. 7574372 c.2184T>A p.D728E missense 0.00002472
199. 7584612 c.7117G>A p.A2373T missense 0.00002472
200. 7576616 c.2720G>A p.R907H missense 0.00002472
201. 7559485 c.449G>A p.R150Q missense 0.00002471
202. 7584045 c.6550G>A p.V2184M missense 0.00002471
203. 7578075 c.2941A>G p.K981E missense 0.00002471
204. 7559515 c.479G>A p.R160Q missense 0.00002471
205. 7569492 c.1493C>T p.P498L missense 0.00002471
206. 7558382 c.307C>T p.R103W missense 0.00002471
207. 7569561 c.1562A>C p.D521A missense 0.00002471
208. 7585117 c.7622G>A p.R2541K missense 0.00002471
209. 7559520 c.484C>G p.R162G missense 0.00002471
210. 7585197 c.7702G>A p.G2568S missense 0.00002471
211. 7569486 c.1487C>T p.T496M missense 0.00002471
212. 7568701 c.1298G>A p.R433H missense 0.00002471
213. 7559520 c.484C>T p.R162C missense 0.00002471
214. 7558359 c.284A>G p.Y95C missense 0.00002471
215. 7568727 c.1324T>G p.S442A missense 0.00002471
216. 7542159 c.11A>G p.N4S missense 0.00002374
217. 7542239 c.91A>G p.T31A missense 0.00002168
218. 7542230 c.82T>G p.Y28D missense 0.00001911
219. 7556051 c.271C>G p.P91A missense 0.00001764
220. 7558483 c.408T>G p.D136E missense 0.00001716
221. 7579526 c.3103G>C p.E1035Q missense 0.00001696
222. 7556036 c.256G>C p.E86Q missense 0.00001695
223. 7581294 c.4871T>C p.I1624T missense 0.00001689
224. 7581304 c.4881G>T p.K1627N missense 0.00001688
225. 7581324 c.4901G>T p.R1634L missense 0.00001683
226. 7579996 c.3573G>C p.E1191D missense 0.00001678
227. 7579925 c.3502G>A p.E1168K missense 0.00001677
228. 7577192 c.2794A>G p.N932D missense 0.00001675
229. 7577256 c.2858T>C p.L953P missense 0.00001675
230. 7586007 c.8512C>T p.R2838C missense 0.00001674
231. 7585995 c.8500C>T p.R2834C missense 0.00001672
232. 7585993 c.8498C>G p.S2833C missense 0.00001671
233. 7581360 c.4937A>G p.E1646G missense 0.00001670
234. 7579560 c.3137A>T p.D1046V missense 0.00001669
235. 7581384 c.4961T>C p.L1654P missense 0.00001667
236. 7581071 c.4648A>T p.T1550S missense 0.00001666
237. 7580187 c.3764G>C p.R1255T missense 0.00001665
238. 7580996 c.4573A>G p.I1525V missense 0.00001665
239. 7580910 c.4487A>T p.D1496V missense 0.00001664
240. 7577246 c.2848A>G p.I950V missense 0.00001664
241. 7579766 c.3343A>G p.T1115A missense 0.00001664
242. 7580901 c.4478A>C p.E1493A missense 0.00001663
243. 7580880 c.4457T>C p.L1486S missense 0.00001663
244. 7580271 c.3848A>C p.E1283A missense 0.00001662
245. 7577238 c.2840T>C p.V947A missense 0.00001661
246. 7579705 c.3282G>C p.K1094N missense 0.00001660
247. 7580379 c.3956C>T p.T1319I missense 0.00001660
248. 7580327 c.3904C>T p.R1302C missense 0.00001660
249. 7580346 c.3923G>C p.R1308P missense 0.00001660
250. 7580301 c.3878T>C p.I1293T missense 0.00001660
251. 7581546 c.5123C>T p.S1708F missense 0.00001659
252. 7580342 c.3919G>A p.A1307T missense 0.00001659
253. 7580466 c.4043T>G p.L1348R missense 0.00001659
254. 7580469 c.4046G>A p.S1349N missense 0.00001659
255. 7585371 c.7876G>C p.E2626Q missense 0.00001659
256. 7580077 c.3654G>C p.K1218N missense 0.00001659
257. 7580828 c.4405C>T p.L1469F missense 0.00001658
258. 7580484 c.4061A>G p.N1354S missense 0.00001658
259. 7580492 c.4069_4071delGAG p.Glu1357del inframe 0.00001658
260. 7583607 c.6112A>C p.K2038Q missense 0.00001658
261. 7583587 c.6092T>C p.L2031S missense 0.00001658
262. 7580528 c.4105G>A p.E1369K missense 0.00001657
263. 7585429 c.7934T>C p.I2645T missense 0.00001657
264. 7585359 c.7864A>G p.I2622V missense 0.00001657
265. 7583317 c.5822A>C p.K1941T missense 0.00001656
266. 7585350 c.7855A>G p.I2619V missense 0.00001656
267. 7585957 c.8462C>T p.S2821L missense 0.00001656
268. 7583532 c.6037C>T p.R2013W missense 0.00001655
269. 7581708 c.5285G>A p.R1762Q missense 0.00001655
270. 7583523 c.6028C>T p.P2010S missense 0.00001655
271. 7583764 c.6269A>G p.E2090G missense 0.00001655
272. 7558460 c.385C>T p.R129W missense 0.00001655
273. 7585525 c.8030A>G p.Q2677R missense 0.00001655
274. 7580565 c.4142C>G p.T1381S missense 0.00001654
275. 7583377 c.5882T>G p.V1961G missense 0.00001654
276. 7583216 c.5721G>C p.K1907N missense 0.00001653
277. 7583937 c.6442G>A p.A2148T missense 0.00001653
278. 7583862 c.6367C>T p.R2123C missense 0.00001653
279. 7584774 c.7279C>A p.L2427M missense 0.00001653
280. 7583890 c.6395G>A p.G2132E missense 0.00001653
281. 7581620 c.5197G>A p.D1733N missense 0.00001653
282. 7566686 c.1016A>G p.N339S missense 0.00001653
283. 7580613 c.4190A>G p.N1397S missense 0.00001653
284. 7580589 c.4166G>T p.S1389I missense 0.00001653
285. 7583800 c.6305G>T p.G2102V missense 0.00001653
286. 7583863 c.6368G>A p.R2123H missense 0.00001653
287. 7581617 c.5194G>A p.D1732N missense 0.00001653
288. 7566672 c.1002C>A p.D334E missense 0.00001652
289. 7584885 c.7390C>T p.R2464C missense 0.00001652
290. 7583193 c.5698G>A p.E1900K missense 0.00001652
291. 7583471 c.5976C>A p.D1992E missense 0.00001652
292. 7568070 c.1197C>G p.I399M missense 0.00001651
293. 7585774 c.8279C>T p.A2760V missense 0.00001651
294. 7580697 c.4274G>A p.R1425K missense 0.00001651
295. 7583467 c.5972T>C p.L1991S missense 0.00001651
296. 7555962 c.182C>T p.T61M missense 0.00001651
297. 7572131 c.1960G>A p.V654I missense 0.00001651
298. 7574448 c.2260G>A p.E754K missense 0.00001651
299. 7585704 c.8209G>C p.V2737L missense 0.00001650
300. 7585825 c.8330C>A p.P2777H missense 0.00001650
301. 7571629 c.1715G>A p.R572Q missense 0.00001650
302. 7571623 c.1709C>T p.T570I missense 0.00001650
303. 7583163 c.5668A>G p.R1890G missense 0.00001650
304. 7575534 c.2443A>G p.K815E missense 0.00001650
305. 7571644 c.1730T>C p.M577T missense 0.00001650
306. 7585621 c.8126C>T p.A2709V missense 0.00001649
307. 7585849 c.8354A>G p.Y2785C missense 0.00001649
308. 7572171 c.2000G>C p.W667S missense 0.00001649
309. 7572159 c.1988A>G p.K663R missense 0.00001649
310. 7584679 c.7184G>A p.G2395D missense 0.00001649
311. 7574407 c.2219G>C p.C740S missense 0.00001649
312. 7584030 c.6535_6537delAAG p.K2179del1 inframe 0.00001648
313. 7575688 c.2597G>T p.R866L missense 0.00001648
314. 7584541 c.7046C>G p.S2349C missense 0.00001648
315. 7568752 c.1349C>T p.P450L missense 0.00001648
316. 7559619 c.583A>G p.M195V missense 0.00001648
317. 7584495 c.7000C>T p.R2334X nonsense 0.00001648
318. 7568700 c.1297C>T p.R433C missense 0.00001648
319. 7584534 c.7039A>C p.I2347L missense 0.00001648
320. 7572197 c.2026C>T p.R676C missense 0.00001648
321. 7585230 c.7735G>A p.D2579N missense 0.00001648
322. 7572252 c.2081C>T p.A694V missense 0.00001648
323. 7584570 c.7075A>G p.I2359V missense 0.00001648
324. 7572198 c.2027G>A p.R676H missense 0.00001648
325. 7585240 c.7745T>G p.F2582C missense 0.00001648
326. 7584657 c.7162G>A p.V2388I missense 0.00001648
327. 7572218 c.2047G>A p.E683K missense 0.00001648
328. 7559544 c.508G>A p.G170R missense 0.00001647
329. 7569557 c.1558G>A p.V520M missense 0.00001647
330. 7574978 c.2386A>G p.T796A missense 0.00001647
331. 7584427 c.6932C>T p.P2311L missense 0.00001647
332. 7585143 c.7648G>C p.G2550R missense 0.00001647
333. 7585047 c.7552G>A p.V2518I missense 0.00001647
334. 7569443 c.1444T>G p.C482G missense 0.00001647
335. 7584037 c.6542T>C p.V2181A missense 0.00001647
336. 7562979 c.692A>G p.Y231C missense 0.00001647
337. 7559589 c.553A>G p.K185E missense 0.00001647
338. 7562952 c.665G>A p.R222Q missense 0.00001647
339. 7585057 c.7562A>G p.D2521G missense 0.00001647
340. 7559521 c.485G>A p.R162H missense 0.00001647
341. 7585113 c.7618G>A p.D2540N missense 0.00001647
342. 7575669 c.2578G>A p.V860I missense 0.00001647
343. 7584397 c.6902T>C p.I2301T missense 0.00001647
344. 7558382 c.307C>G p.R103G missense 0.00001647
345. 7559571 c.535G>A p.G179S missense 0.00001647
346. 7570767 c.1672G>C p.E558Q missense 0.00001647
347. 7559503 c.467T>A p.I156N missense 0.00001647
348. 7542211 c.63G>T p.E21D missense 0.00001609
349. 7542194 c.46C>T p.R16C missense 0.00001402
350. 7542150 c.2T>G p.Met1? missense 0.00001185
351. 7577270 c.2872A>G p.I958V missense 0.00000876
352. 7556045 c.265G>A p.V89M missense 0.00000869
353. 7581290 c.4867T>C p.S1623P missense 0.00000845
354. 7581234 c.4811C>T p.S1604L missense 0.00000844
355. 7581302 c.4879A>G p.K1627E missense 0.00000844
356. 7581242 c.4819G>A p.E1607K missense 0.00000844
357. 7572293 c.2122G>A p.E708K missense 0.00000843
358. 7581228 c.4805G>A p.R1602K missense 0.00000843
359. 7581317 c.4894G>A p.D1632N missense 0.00000842
360. 7581317 c.4894G>C p.D1632H missense 0.00000842
361. 7579973 c.3550C>T p.R1184W missense 0.00000842
362. 7581213 c.4790A>C p.E1597A missense 0.00000841
363. 7581216 c.4793T>A p.L1598Q missense 0.00000841
364. 7556033 c.253G>A p.A85T missense 0.00000841
365. 7572290 c.2119A>G p.N707D missense 0.00000840
366. 7579935 c.3512T>C p.I1171T missense 0.00000839
367. 7581177 c.4754C>T p.S1585L missense 0.00000839
368. 7577258 c.2860T>C p.C954R missense 0.00000838
369. 7577259 c.2861G>A p.C954Y missense 0.00000838
370. 7581171 c.4748C>G p.T1583S missense 0.00000838
371. 7586011 c.8516C>G p.S2839C missense 0.00000838
372. 7581173 c.4750G>C p.A1584P missense 0.00000838
373. 7579926 c.3503A>G p.E1168G missense 0.00000838
374. 7581174 c.4751C>T p.A1584V missense 0.00000838
375. 7586061 c.8566T>A p.S2856T missense 0.00000837
376. 7580015 c.3592C>T p.H1198Y missense 0.00000837
377. 7586001 c.8506G>A p.G2836R missense 0.00000837
378. 7586013 c.8518G>T p.G2840W missense 0.00000837
379. 7581159 c.4736G>A p.R1579Q missense 0.00000836
380. 7586032 c.8537G>A p.R2846Q missense 0.00000836
381. 7579554 c.3131C>T p.A1044V missense 0.00000836
382. 7586055 c.8560G>C p.G2854R missense 0.00000836
383. 7579896 c.3473T>C p.L1158S missense 0.00000836
384. 7581158 c.4735C>T p.R1579W missense 0.00000836
385. 7586059 c.8564A>T p.N2855I missense 0.00000836
386. 7586026 c.8531G>T p.G2844V missense 0.00000836
387. 7581345 c.4922A>G p.D1641G missense 0.00000836
388. 7586026 c.8531G>C p.G2844A missense 0.00000836
389. 7585987 c.8492C>T p.S2831L missense 0.00000835
390. 7579879 c.3456C>A p.N1152K missense 0.00000835
391. 7580024 c.3601G>A p.E1201K missense 0.00000835
392. 7581136 c.4713G>C p.Q1571H missense 0.00000835
393. 7585989 c.8494G>A p.G2832R missense 0.00000835
394. 7581140 c.4717G>A p.V1573M missense 0.00000835
395. 7585990 c.8495G>T p.G2832V missense 0.00000835
396. 7585993 c.8498_8499insCCCGCTCCGGA p.Ser2835_Gly2836insGlySerArgSer inframe 0.00000835
397. 7585971 c.8476C>T p.R2826C missense 0.00000834
398. 7581093 c.4670C>T p.T1557M missense 0.00000834
399. 7577248 c.2850T>G p.I950M missense 0.00000834
400. 7579560 c.3137A>G p.D1046G missense 0.00000834
401. 7577252 c.2854G>A p.E952K missense 0.00000834
402. 7585972 c.8477G>A p.R2826H missense 0.00000834
403. 7580032 c.3609G>A p.M1203I missense 0.00000834
404. 7577247 c.2849T>A p.I950N missense 0.00000834
405. 7579569 c.3146C>G p.S1049W missense 0.00000834
406. 7580033 c.3610A>G p.S1204G missense 0.00000833
407. 7583682 c.6187C>T p.R2063W missense 0.00000833
408. 7581039 c.4616G>C p.R1539T missense 0.00000833
409. 7581057 c.4634T>C p.V1545A missense 0.00000833
410. 7581027 c.4604T>A p.L1535Q missense 0.00000833
411. 7581044 c.4621G>A p.D1541N missense 0.00000833
412. 7583683 c.6188G>A p.R2063Q missense 0.00000833
413. 7581063 c.4640A>C p.Q1547P missense 0.00000833
414. 7581396 c.4973C>T p.S1658F missense 0.00000833
415. 7581055 c.4632G>T p.R1544S missense 0.00000833
416. 7581056 c.4633G>A p.V1545I missense 0.00000833
417. 7583682 c.6187C>G p.R2063G missense 0.00000833
418. 7580220 c.3797A>G p.Q1266R missense 0.00000832
419. 7579827 c.3404A>C p.Q1135P missense 0.00000832
420. 7580155 c.3732_3733insGAAAATC p.Asp1248LysfsTer7 frameshift 0.00000832
421. 7581484 c.5061G>C p.K1687N missense 0.00000832
422. 7581442 c.5019A>T p.E1673D missense 0.00000832
423. 7579796 c.3373A>G p.R1125G missense 0.00000832
424. 7583700 c.6205G>A p.V2069I missense 0.00000832
425. 7580895 c.4472A>G p.D1491G missense 0.00000832
426. 7580174 c.3751G>C p.D1251H missense 0.00000832
427. 7580228 c.3805C>T p.R1269X nonsense 0.00000832
428. 7580138 c.3715C>T p.L1239F missense 0.00000832
429. 7580229 c.3806delG p.Arg1269GlnfsTer16 frameshift 0.00000832
430. 7580957 c.4534T>C p.Y1512H missense 0.00000832
431. 7581429 c.5006T>A p.L1669H missense 0.00000832
432. 7580231 c.3808G>A p.A1270T missense 0.00000832
433. 7580198 c.3775A>G p.S1259G missense 0.00000832
434. 7581458 c.5035C>T p.H1679Y missense 0.00000832
435. 7580895 c.4472A>T p.D1491V missense 0.00000832
436. 7580181 c.3758T>C p.I1253T missense 0.00000832
437. 7581494 c.5071G>A p.D1691N missense 0.00000832
438. 7580910 c.4487A>G p.D1496G missense 0.00000832
439. 7581416 c.4993A>G p.R1665G missense 0.00000832
440. 7579816 c.3393A>T p.R1131S missense 0.00000832
441. 7581470 c.5047G>A p.E1683K missense 0.00000832
442. 7581433 c.5010G>C p.Q1670H missense 0.00000832
443. 7579770 c.3347A>T p.Y1116F missense 0.00000832
444. 7579760 c.3337C>G p.R1113G missense 0.00000832
445. 7580135 c.3712C>A p.Q1238K missense 0.00000831
446. 7577241 c.2843A>C p.Q948P missense 0.00000831
447. 7580871 c.4448T>C p.I1483T missense 0.00000831
448. 7580265 c.3842G>C p.G1281A missense 0.00000831
449. 7579644 c.3221C>T p.A1074V missense 0.00000831
450. 7568134 c.1261C>G p.L421V missense 0.00000831
451. 7583636 c.6141G>C p.M2047I missense 0.00000831
452. 7580268 c.3845C>G p.S1282C missense 0.00000831
453. 7583632 c.6137T>G p.V2046G missense 0.00000831
454. 7581732 c.5309T>C p.I1770T missense 0.00000831
455. 7580280 c.3857_3859delAGA p.Lys1288del inframe 0.00000831
456. 7568135 c.1262T>C p.L421P missense 0.00000831
457. 7580889 c.4466T>G p.L1489R missense 0.00000831
458. 7580258 c.3835G>A p.A1279T missense 0.00000831
459. 7583719 c.6224G>A p.R2075Q missense 0.00000831
460. 7580856 c.4433A>G p.D1478G missense 0.00000830
461. 7583612 c.6117A>T p.L2039F missense 0.00000830
462. 7580335 c.3912G>C p.E1304D missense 0.00000830
463. 7583724 c.6229C>G p.L2077V missense 0.00000830
464. 7580441 c.4018C>G p.R1340G missense 0.00000830
465. 7580302 c.3879A>G p.I1293M missense 0.00000830
466. 7580285 c.3862A>T p.K1288X nonsense 0.00000830
467. 7568127 c.1254C>G p.I418M missense 0.00000830
468. 7583614 c.6119T>G p.I2040S missense 0.00000830
469. 7580286 c.3863A>G p.K1288R missense 0.00000830
470. 7580444 c.4021C>T p.R1341C missense 0.00000830
471. 7580338 c.3915C>G p.D1305E missense 0.00000830
472. 7579721 c.3298T>C p.C1100R missense 0.00000830
473. 7580405 c.3982G>A p.E1328K missense 0.00000830
474. 7583736 c.6241G>A p.D2081N missense 0.00000830
475. 7580441 c.4018C>A p.R1340S missense 0.00000830
476. 7580099 c.3676A>G p.M1226V missense 0.00000830
477. 7580396 c.3973A>C p.K1325Q missense 0.00000830
478. 7577220 c.2822G>A p.R941Q missense 0.00000830
479. 7572277 c.2106C>G p.I702M missense 0.00000830
480. 7580288 c.3865C>T p.Q1289X nonsense 0.00000830
481. 7580844 c.4421A>G p.K1474R missense 0.00000830
482. 7579695 c.3272A>G p.K1091R missense 0.00000830
483. 7580108 c.3685G>A p.E1229K missense 0.00000830
484. 7580847 c.4424C>T p.T1475I missense 0.00000830
485. 7580394 c.3971A>T p.N1324I missense 0.00000830
486. 7581543 c.5120A>G p.Q1707R missense 0.00000830
487. 7585380 c.7885G>A p.E2629K missense 0.00000829
488. 7580460 c.4037A>G p.N1346S missense 0.00000829
489. 7585443 c.7948C>T p.L2650F missense 0.00000829
490. 7583581 c.6086A>G p.Y2029C missense 0.00000829
491. 7581546 c.5123C>G p.S1708C missense 0.00000829
492. 7585413 c.7918G>T p.G2640C missense 0.00000829
493. 7580078 c.3655A>G p.T1219A missense 0.00000829
494. 7580067 c.3644A>G p.N1215S missense 0.00000829
495. 7580478 c.4055G>A p.R1352K missense 0.00000829
496. 7585458 c.7963G>T p.A2655S missense 0.00000829
497. 7581561 c.5138T>C p.L1713P missense 0.00000829
498. 7580072 c.3649A>T p.T1217S missense 0.00000829
499. 7580481 c.4058A>G p.N1353S missense 0.00000829
500. 7585468 c.7973G>T p.G2658V missense 0.00000829
501. 7583743 c.6248G>A p.R2083H missense 0.00000829
502. 7566710 c.1040T>C p.I347T missense 0.00000829
503. 7583592 c.6097G>A p.E2033K missense 0.00000829
504. 7583580 c.6085T>A p.Y2029N missense 0.00000829
505. 7585492 c.7997G>A p.G2666D missense 0.00000829
506. 7585345 c.7850G>A p.S2617N missense 0.00000828
507. 7568110 c.1237C>T p.H413Y missense 0.00000828
508. 7583754 c.6259T>C p.Y2087H missense 0.00000828
509. 7585954 c.8459C>T p.S2820F missense 0.00000828
510. 7583563 c.6068C>G p.A2023G missense 0.00000828
511. 7583557 c.6062C>G p.A2021G missense 0.00000828
512. 7583305 c.5810G>A p.R1937K missense 0.00000828
513. 7583329 c.5834G>A p.R1945H missense 0.00000828
514. 7581714 c.5291T>A p.L1764Q missense 0.00000828
515. 7558461 c.386G>A p.R129Q missense 0.00000828
516. 7585496 c.8001G>C p.Q2667H missense 0.00000828
517. 7583557 c.6062C>A p.A2021E missense 0.00000828
518. 7583566 c.6071C>T p.S2024F missense 0.00000828
519. 7583334 c.5839T>C p.Y1947H missense 0.00000828
520. 7583757 c.6262G>T p.A2088S missense 0.00000828
521. 7583316 c.5821_5826delAAACTC p.Lys1941_Leu1942del inframe 0.00000828
522. 7583542 c.6047G>A p.G2016E missense 0.00000828
523. 7581714 c.5291T>C p.L1764P missense 0.00000828
524. 7583299 c.5804A>G p.Y1935C missense 0.00000828
525. 7556015 c.235T>C p.S79P missense 0.00000828
526. 7583574 c.6079G>A p.E2027K missense 0.00000828
527. 7583562 c.6067G>T p.A2023S missense 0.00000828
528. 7580541 c.4118C>T p.T1373I missense 0.00000828
529. 7566614 c.944G>A p.R315H missense 0.00000828
530. 7583359 c.5864C>T p.T1955I missense 0.00000828
531. 7580535 c.4112A>G p.N1371S missense 0.00000828
532. 7585516 c.8021C>G p.A2674G missense 0.00000828
533. 7585967 c.8472_8473insCTCCGGC p.Ser2825LeufsTer29 frameshift 0.00000828
534. 7583550 c.6055G>A p.A2019T missense 0.00000828
535. 7581582 c.5159T>C p.L1720S missense 0.00000828
536. 7585435 c.7940G>A p.G2647D missense 0.00000828
537. 7583303 c.5808G>C p.Q1936H missense 0.00000828
538. 7585342 c.7847C>T p.S2616L missense 0.00000828
539. 7583529 c.6034C>T p.L2012F missense 0.00000828
540. 7581713 c.5290C>G p.L1764V missense 0.00000828
541. 7583785 c.6290A>G p.D2097G missense 0.00000827
542. 7580621 c.4198C>T p.R1400X nonsense 0.00000827
543. 7580601 c.4178C>A p.A1393D missense 0.00000827
544. 7582878 c.5383T>A p.S1795T missense 0.00000827
545. 7585548 c.8053G>T p.A2685S missense 0.00000827
546. 7585530 c.8035G>A p.V2679M missense 0.00000827
547. 7583394 c.5899G>A p.V1967M missense 0.00000827
548. 7585528 c.8033G>A p.G2678D missense 0.00000827
549. 7581603 c.5180T>C p.L1727P missense 0.00000827
550. 7572117 c.1946T>C p.V649A missense 0.00000827
551. 7585557 c.8062C>G p.L2688V missense 0.00000827
552. 7583509 c.6014C>T p.A2005V missense 0.00000827
553. 7584802 c.7307A>C p.D2436A missense 0.00000827
554. 7583892 c.6397G>T p.G2133C missense 0.00000827
555. 7580795 c.4372C>T p.R1458X nonsense 0.00000827
556. 7585545 c.8050A>G p.M2684V missense 0.00000827
557. 7568097 c.1224C>A p.N408K missense 0.00000827
558. 7583505 c.6010G>T p.V2004F missense 0.00000827
559. 7585557 c.8062C>A p.L2688M missense 0.00000827
560. 7584836 c.7341A>C p.K2447N missense 0.00000827
561. 7568105 c.1232T>C p.L411P missense 0.00000827
562. 7585936 c.8441C>G p.P2814R missense 0.00000827
563. 7585318 c.7823C>A p.S2608Y missense 0.00000827
564. 7580624 c.4201G>C p.E1401Q missense 0.00000827
565. 7580598 c.4175G>C p.R1392P missense 0.00000827
566. 7584840 c.7345_7347delAAG p.Lys2449del inframe 0.00000827
567. 7580562 c.4139T>G p.L1380R missense 0.00000827
568. 7572126 c.1955A>G p.N652S missense 0.00000826
569. 7571815 c.1901C>A p.T634K missense 0.00000826
570. 7574463 c.2275G>A p.V759I missense 0.00000826
571. 7566662 c.992A>C p.Q331P missense 0.00000826
572. 7584876 c.7381C>T p.L2461F missense 0.00000826
573. 7583872 c.6377A>G p.E2126G missense 0.00000826
574. 7584855 c.7360C>G p.Q2454E missense 0.00000826
575. 7566640 c.970A>C p.K324Q missense 0.00000826
576. 7583407 c.5912T>C p.L1971P missense 0.00000826
577. 7581684 c.5261G>A p.S1754N missense 0.00000826
578. 7571815 c.1901C>G p.T634R missense 0.00000826
579. 7584869 c.7374G>T p.K2458N missense 0.00000826
580. 7583217 c.5722A>G p.R1908G missense 0.00000826
581. 7574467 c.2279C>T p.T760I missense 0.00000826
582. 7580675 c.4252C>G p.Q1418E missense 0.00000826
583. 7582885 c.5390G>C p.R1797T missense 0.00000826
584. 7580603 c.4180C>T p.Q1394X nonsense 0.00000826
585. 7566676 c.1006C>T p.L336F missense 0.00000826
586. 7585579 c.8084T>A p.F2695Y missense 0.00000826
587. 7583879 c.6384G>C p.Q2128H missense 0.00000826
588. 7583182 c.5687G>C p.R1896T missense 0.00000826
589. 7585926 c.8431A>G p.K2811E missense 0.00000826
590. 7585299 c.7804T>G p.L2602V missense 0.00000826
591. 7566667 c.997A>G p.S333G missense 0.00000826
592. 7566644 c.974A>G p.E325G missense 0.00000826
593. 7583947 c.6452G>A p.R2151Q missense 0.00000826
594. 7583221 c.5726T>C p.I1909T missense 0.00000826
595. 7584730 c.7235C>A p.T2412N missense 0.00000826
596. 7585770 c.8275C>T p.R2759C missense 0.00000826
597. 7583841 c.6346A>G p.I2116V missense 0.00000826
598. 7572121 c.1950C>A p.N650K missense 0.00000826
599. 7566680 c.1010T>C p.V337A missense 0.00000826
600. 7580647 c.4224_4226delAAT p.Ile1409del inframe 0.00000826
601. 7581670 c.5247C>G p.I1749M missense 0.00000826
602. 7583910 c.6415A>G p.N2139D missense 0.00000826
603. 7583416 c.5921A>T p.K1974M missense 0.00000826
604. 7583880 c.6385A>G p.I2129V missense 0.00000826
605. 7583856 c.6361G>A p.G2121R missense 0.00000826
606. 7566668 c.998G>A p.S333N missense 0.00000826
607. 7566662 c.992A>G p.Q331R missense 0.00000826
608. 7559459 c.423G>C p.R141S missense 0.00000826
609. 7583835 c.6340A>G p.N2114D missense 0.00000826
610. 7584891 c.7396G>A p.V2466M missense 0.00000826
611. 7584744 c.7249G>T p.D2417Y missense 0.00000826
612. 7583862 c.6367C>A p.R2123S missense 0.00000826
613. 7566682 c.1012C>T p.L338F missense 0.00000826
614. 7585750 c.8255G>A p.R2752Q missense 0.00000826
615. 7566635 c.965A>G p.K322R missense 0.00000826
616. 7581680 c.5257A>T p.R1753W missense 0.00000826
617. 7585564 c.8069C>G p.P2690R missense 0.00000826
618. 7583427 c.5932A>G p.M1978V missense 0.00000826
619. 7578704 c.2993A>T p.D998V missense 0.00000825
620. 7585899 c.8404C>T p.L2802F missense 0.00000825
621. 7585669 c.8174G>A p.R2725H missense 0.00000825
622. 7555968 c.188C>G p.S63C missense 0.00000825
623. 7571646 c.1732A>C p.K578Q missense 0.00000825
624. 7585838 c.8343A>T p.L2781F missense 0.00000825
625. 7559464 c.428T>C p.L143P missense 0.00000825
626. 7585711 c.8216C>T p.P2739L missense 0.00000825
627. 7584219 c.6724T>C p.S2242P missense 0.00000825
628. 7584708 c.7213C>A p.L2405I missense 0.00000825
629. 7568033 c.1160C>T p.S387F missense 0.00000825
630. 7580729 c.4306A>G p.T1436A missense 0.00000825
631. 7585887 c.8392A>G p.T2798A missense 0.00000825
632. 7585282 c.7787T>C p.I2596T missense 0.00000825
633. 7571738 c.1824A>G p.I608M missense 0.00000825
634. 7568066 c.1193C>T p.S398F missense 0.00000825
635. 7583164 c.5669G>A p.R1890K missense 0.00000825
636. 7584271 c.6776G>A p.C2259Y missense 0.00000825
637. 7574314 c.2131-5_2131-2delGACA essential splice site 0.00000825
638. 7583430 c.5935C>G p.Q1979E missense 0.00000825
639. 7578705 c.2994T>G p.D998E missense 0.00000825
640. 7572137 c.1966G>A p.E656K missense 0.00000825
641. 7585720 c.8225A>G p.H2742R missense 0.00000825
642. 7555974 c.194A>T p.H65L missense 0.00000825
643. 7583151 c.5656G>C p.E1886Q missense 0.00000825
644. 7571650 c.1736C>T p.T579M missense 0.00000825
645. 7571664 c.1750G>A p.E584K missense 0.00000825
646. 7559467 c.431A>C p.Q144P missense 0.00000825
647. 7584228 c.6733G>A p.E2245K missense 0.00000825
648. 7585730 c.8235A>G p.I2745M missense 0.00000825
649. 7585716 c.8221G>A p.V2741M missense 0.00000825
650. 7584227 c.6732C>G p.D2244E missense 0.00000825
651. 7583458 c.5963A>G p.K1988R missense 0.00000825
652. 7568035 c.1162A>G p.T388A missense 0.00000825
653. 7585783 c.8288_8289insGCTT p.Gln2765AlafsTer23 frameshift 0.00000825
654. 7584922 c.7427A>G p.E2476G missense 0.00000825
655. 7585793 c.8298C>G p.D2766E missense 0.00000825
656. 7574443 c.2255A>T p.K752I missense 0.00000825
657. 7574322 c.2134G>A p.V712M missense 0.00000825
658. 7583446 c.5951A>T p.Q1984L missense 0.00000825
659. 7568815 c.1412A>G p.Q471R missense 0.00000825
660. 7572144 c.1973A>G p.N658S missense 0.00000825
661. 7571695 c.1781G>T p.S594I missense 0.00000825
662. 7571652 c.1738A>G p.I580V missense 0.00000825
663. 7582890 c.5395C>G p.Q1799E missense 0.00000825
664. 7585733 c.8238C>G p.S2746R missense 0.00000825
665. 7585719 c.8224C>T p.H2742Y missense 0.00000825
666. 7571766 c.1852C>T p.H618Y missense 0.00000825
667. 7583973 c.6478C>T p.R2160X nonsense 0.00000825
668. 7585897 c.8402G>A p.R2801H missense 0.00000825
669. 7585602 c.8107G>A p.G2703R missense 0.00000825
670. 7585809 c.8314A>G p.K2772E missense 0.00000825
671. 7571643 c.1729A>C p.M577L missense 0.00000825
672. 7585658 c.8163G>T p.E2721D missense 0.00000825
673. 7583961 c.6466A>G p.R2156G missense 0.00000825
674. 7583453 c.5958C>G p.I1986M missense 0.00000825
675. 7572134 c.1963A>T p.I655F missense 0.00000825
676. 7580726 c.4303G>C p.A1435P missense 0.00000825
677. 7585273 c.7778T>G p.I2593S missense 0.00000825
678. 7585279 c.7784C>T p.T2595I missense 0.00000825
679. 7571721 c.1807G>C p.D603H missense 0.00000825
680. 7568053 c.1180G>A p.G394R missense 0.00000825
681. 7583164 c.5669G>C p.R1890T missense 0.00000825
682. 7571658 c.1744G>A p.D582N missense 0.00000825
683. 7568031 c.1158G>T p.Q386H missense 0.00000825
684. 7583167 c.5672_5674delAGA p.E1891_K1892delinsE inframe 0.00000825
685. 7584260 c.6765G>C p.Q2255H missense 0.00000825
686. 7580737 c.4314_4315delTG p.Glu1439GlyfsTer11 frameshift 0.00000825
687. 7585615 c.8120T>C p.M2707T missense 0.00000825
688. 7575628 c.2537A>G p.Y846C missense 0.00000824
689. 7576594 c.2698A>G p.K900E missense 0.00000824
690. 7584648 c.7153C>T p.R2385C missense 0.00000824
691. 7575547 c.2456A>G p.N819S missense 0.00000824
692. 7559614 c.578G>C p.G193A missense 0.00000824
693. 7559601 c.565A>G p.S189G missense 0.00000824
694. 7567648 c.1106A>T p.D369V missense 0.00000824
695. 7583089 c.5594A>G p.N1865S missense 0.00000824
696. 7559521 c.485G>T p.R162L missense 0.00000824
697. 7585864 c.8369A>G p.N2790S missense 0.00000824
698. 7574907 c.2315C>A p.A772E missense 0.00000824
699. 7565655 c.841A>G p.R281G missense 0.00000824
700. 7585225 c.7730T>C p.V2577A missense 0.00000824
701. 7584456 c.6961G>A p.V2321M missense 0.00000824
702. 7584067 c.6572G>A p.R2191K missense 0.00000824
703. 7574374 c.2186T>G p.M729R missense 0.00000824
704. 7585102 c.7607A>T p.K2536M missense 0.00000824
705. 7576640 c.2744T>A p.M915K missense 0.00000824
706. 7574344 c.2156T>C p.I719T missense 0.00000824
707. 7584102 c.6607G>C p.V2203L missense 0.00000824
708. 7576586 c.2690C>T p.A897V missense 0.00000824
709. 7585002 c.7507T>A p.W2503R missense 0.00000824
710. 7569425 c.1426G>T p.V476L missense 0.00000824
711. 7565727 c.913A>G p.I305V missense 0.00000824
712. 7584021 c.6526G>T p.V2176F missense 0.00000824
713. 7558383 c.308G>A p.R103Q missense 0.00000824
714. 7562883 c.598-2A>G essential splice site 0.00000824
715. 7572167 c.1996A>G p.T666A missense 0.00000824
716. 7568691 c.1288G>A p.E430K missense 0.00000824
717. 7562972 c.685G>T p.G229C missense 0.00000824
718. 7562927 c.640G>A p.V214M missense 0.00000824
719. 7578770 c.3059T>C p.M1020T missense 0.00000824
720. 7575675 c.2584C>G p.Q862E missense 0.00000824
721. 7578716 c.3005G>C p.R1002P missense 0.00000824
722. 7575657 c.2566T>C p.F856L missense 0.00000824
723. 7559576 c.540G>C p.W180C missense 0.00000824
724. 7578100 c.2966C>T p.S989F missense 0.00000824
725. 7585029 c.7534G>T p.D2512Y missense 0.00000824
726. 7585174 c.7679T>C p.M2560T missense 0.00000824
727. 7574410 c.2222A>G p.Y741C missense 0.00000824
728. 7570780 c.1685C>T p.A562V missense 0.00000824
729. 7567609 c.1067C>T p.T356M missense 0.00000824
730. 7582980 c.5485C>G p.L1829V missense 0.00000824
731. 7570758 c.1663A>T p.I555F missense 0.00000824
732. 7585628 c.8133G>T p.E2711D missense 0.00000824
733. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824
734. 7582908 c.5413T>G p.C1805G missense 0.00000824
735. 7569508 c.1509G>T p.M503I missense 0.00000824
736. 7584085 c.6590G>A p.G2197D missense 0.00000824
737. 7576624 c.2728G>T p.D910Y missense 0.00000824
738. 7563970 c.728G>A p.R243H missense 0.00000824
739. 7575700 c.2609T>C p.I870T missense 0.00000824
740. 7558362 c.287G>C p.G96A missense 0.00000824
741. 7574383 c.2195A>C p.N732T missense 0.00000824
742. 7565627 c.813G>T p.Q271H missense 0.00000824
743. 7584960 c.7465G>A p.D2489N missense 0.00000824
744. 7572194 c.2023A>T p.I675F missense 0.00000824
745. 7568782 c.1379C>T p.P460L missense 0.00000824
746. 7572179 c.2008A>G p.M670V missense 0.00000824
747. 7575631 c.2540C>T p.P847L missense 0.00000824
748. 7584655 c.7160C>T p.P2387L missense 0.00000824
749. 7565714 c.900C>A p.D300E missense 0.00000824
750. 7585229 c.7734C>G p.S2578R missense 0.00000824
751. 7584479 c.6984G>T p.K2328N missense 0.00000824
752. 7567677 c.1135T>A p.F379I missense 0.00000824
753. 7559554 c.518C>T p.T173I missense 0.00000824
754. 7583093 c.5598G>C p.Q1866H missense 0.00000824
755. 7559527 c.491C>T p.A164V missense 0.00000824
756. 7585867 c.8372G>A p.R2791H missense 0.00000824
757. 7585036 c.7541C>T p.S2514F missense 0.00000824
758. 7585245 c.7750A>G p.S2584G missense 0.00000824
759. 7574921 c.2329A>G p.I777V missense 0.00000824
760. 7559502 c.466A>C p.I156L missense 0.00000824
761. 7568676 c.1273C>T p.R425X nonsense 0.00000824
762. 7574379 c.2191G>A p.A731T missense 0.00000824
763. 7585216 c.7721G>A p.G2574D missense 0.00000824
764. 7585110 c.7615G>A p.V2539I missense 0.00000824
765. 7574359 c.2171A>C p.N724T missense 0.00000824
766. 7562884 c.598-1G>C essential splice site 0.00000824
767. 7576604 c.2708A>G p.Y903C missense 0.00000824
768. 7572245 c.2074C>G p.P692A missense 0.00000824
769. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824
770. 7585033 c.7538G>A p.G2513D missense 0.00000824
771. 7569562 c.1563C>A p.D521E missense 0.00000824
772. 7584059 c.6564A>C p.E2188D missense 0.00000824
773. 7576574 c.2678A>C p.D893A missense 0.00000824
774. 7572212 c.2041C>G p.H681D missense 0.00000824
775. 7558428 c.353T>C p.M118T missense 0.00000824
776. 7565712 c.898G>A p.D300N missense 0.00000824
777. 7562952 c.665G>C p.R222P missense 0.00000824
778. 7578778 c.3067A>C p.S1023R missense 0.00000824
779. 7575675 c.2584C>A p.Q862K missense 0.00000824
780. 7578111 c.2977C>G p.L993V missense 0.00000824
781. 7575571 c.2480C>A p.T827N missense 0.00000824
782. 7584562 c.7067A>C p.K2356T missense 0.00000824
783. 7574996 c.2404G>A p.D802N missense 0.00000824
784. 7559608 c.572G>A p.C191Y missense 0.00000824
785. 7584448 c.6953G>C p.R2318T missense 0.00000824
786. 7567631 c.1089G>C p.Q363H missense 0.00000824
787. 7584282 c.6787A>G p.I2263V missense 0.00000824
788. 7585627 c.8132A>G p.E2711G missense 0.00000824
789. 7585087 c.7592A>C p.Q2531P missense 0.00000824
790. 7584125 c.6630C>A p.F2210L missense 0.00000824
791. 7576628 c.2732C>T p.S911F missense 0.00000824
792. 7569521 c.1522G>A p.V508M missense 0.00000824
793. 7584087 c.6592C>G p.L2198V missense 0.00000824
794. 7569498 c.1499G>A p.G500D missense 0.00000824
795. 7576642 c.2746A>G p.K916E missense 0.00000824
796. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824
797. 7583992 c.6497G>A p.R2166Q missense 0.00000824
798. 7568765 c.1362C>A p.D454E missense 0.00000824
799. 7565636 c.822C>G p.N274K missense 0.00000824
800. 7558379 c.304A>C p.T102P missense 0.00000824
801. 7575714 c.2623G>A p.D875N missense 0.00000824
802. 7584963 c.7468T>C p.Y2490H missense 0.00000824
803. 7578749 c.3038A>G p.Y1013C missense 0.00000824
804. 7578710 c.2999A>G p.H1000R missense 0.00000824
805. 7568679 c.1276G>A p.E426K missense 0.00000824
806. 7584672 c.7177A>C p.K2393Q missense 0.00000824
807. 7559622 c.586A>G p.R196G missense 0.00000824
808. 7585255 c.7760A>G p.H2587R missense 0.00000824
809. 7578021 c.2887C>T p.L963F missense 0.00000824
810. 7574960 c.2368A>G p.R790G missense 0.00000824
811. 7584006 c.6511A>G p.N2171D missense 0.00000824
812. 7584484 c.6989T>G p.L2330R missense 0.00000824
813. 7559557 c.521G>A p.C174Y missense 0.00000824
814. 7583104 c.5609A>G p.Q1870R missense 0.00000824
815. 7570698 c.1603G>T p.A535S missense 0.00000824
816. 7559502 c.466A>G p.I156V missense 0.00000824
817. 7559481 c.445A>T p.M149L missense 0.00000824
818. 7585252 c.7757G>A p.R2586Q missense 0.00000824
819. 7585143 c.7648G>A p.G2550S missense 0.00000824
820. 7570766 c.1671A>G p.I557M missense 0.00000824
821. 7558409 c.334G>T p.A112S missense 0.00000824
822. 7563014 c.726+1G>A essential splice site 0.00000824
823. 7576615 c.2719C>T p.R907C missense 0.00000824
824. 7585039 c.7544C>G p.T2515S missense 0.00000824
825. 7572213 c.2042A>G p.H681R missense 0.00000824
826. 7558439 c.364G>A p.D122N missense 0.00000824
827. 7575688 c.2597G>A p.R866H missense 0.00000824
828. 7572184 c.2013G>C p.E671D missense 0.00000824
829. 7565674 c.860A>G p.N287S missense 0.00000824
830. 7572173 c.2002A>G p.M668V missense 0.00000824
831. 7562981 c.694C>T p.R232C missense 0.00000824
832. 7558366 c.291T>G p.D97E missense 0.00000824
833. 7562957 c.670A>G p.I224V missense 0.00000824
834. 7559611 c.575T>C p.L192S missense 0.00000824
835. 7559590 c.554A>G p.K185R missense 0.00000824
836. 7578116 c.2982A>C p.Q994H missense 0.00000824
837. 7575616 c.2525C>G p.T842S missense 0.00000824
838. 7583081 c.5586T>G p.N1862K missense 0.00000824
839. 7585858 c.8363C>T p.A2788V missense 0.00000824
840. 7574906 c.2314G>A p.A772T missense 0.00000824
841. 7585233 c.7738G>T p.D2580Y missense 0.00000824
842. 7562972 c.685G>A p.G229S missense 0.00000824
843. 7585222 c.7727G>T p.G2576V missense 0.00000824
844. 7584451 c.6956G>A p.G2319D missense 0.00000824
845. 7567636 c.1094C>T p.T365I missense 0.00000824
846. 7559539 c.503G>C p.G168A missense 0.00000824
847. 7576659 c.2763C>G p.N921K missense 0.00000824
848. 7575030 c.2436+2T>C essential splice site 0.00000824
849. 7585096 c.7601T>C p.I2534T missense 0.00000824
850. 7574341 c.2153C>T p.A718V missense 0.00000824
851. 7569539 c.1540C>T p.P514S missense 0.00000824
852. 7584096 c.6601C>T p.L2201F missense 0.00000824
853. 7576570 c.2674C>T p.R892C missense 0.00000824
854. 7565725 c.911A>T p.N304I missense 0.00000824
855. 7584021 c.6526G>C p.V2176L missense 0.00000824
856. 7568781 c.1378C>G p.P460A missense 0.00000824
857. 7565664 c.850A>G p.M284V missense 0.00000824
858. 7583106 c.5611T>G p.Y1871D missense 0.00000824
859. 7576580 c.2684A>C p.Y895S missense 0.00000824
860. 7575541 c.2450A>T p.D817V missense 0.00000824
861. 7584996 c.7501T>C p.C2501R missense 0.00000824
862. 7584042 c.6547T>G p.Y2183D missense 0.00000824
863. 7562912 c.625G>A p.V209M missense 0.00000824
864. 7562973 c.686G>A p.G229D missense 0.00000824
865. 7578769 c.3058A>T p.M1020L missense 0.00000824
866. 7568689 c.1286T>C p.L429P missense 0.00000824
867. 7575634 c.2543T>C p.L848P missense 0.00000824
868. 7568686 c.1283T>A p.I428N missense 0.00000824
869. 7578096 c.2962C>T p.P988S missense 0.00000824
870. 7584536 c.7041C>G p.I2347M missense 0.00000824
871. 7578066 c.2932A>G p.I978V missense 0.00000824
872. 7574969 c.2377G>A p.E793K missense 0.00000824
873. 7584079 c.6584A>G p.H2195R missense 0.00000824
874. 7584526 c.7031C>G p.T2344R missense 0.00000824
875. 7585125 c.7630T>G p.F2544V missense 0.00000824
876. 7582974 c.5479G>A p.A1827T missense 0.00000824
877. 7570726 c.1631T>C p.M544T missense 0.00000824
878. 7585159 c.7664C>T p.T2555I missense 0.00000824
879. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824
880. 7585078 c.7583A>G p.Y2528C missense 0.00000824
881. 7576619 c.2723G>T p.R908L missense 0.00000824
882. 7569503 c.1504G>A p.D502N missense 0.00000824
883. 7574919 c.2327C>G p.A776G missense 0.00000824
884. 7585044 c.7549G>T p.V2517L missense 0.00000824
885. 7575015 c.2423G>A p.R808H missense 0.00000824
886. 7572254 c.2083G>C p.D695H missense 0.00000824
887. 7575698 c.2607G>C p.R869S missense 0.00000824
888. 7572174 c.2003T>C p.M668T missense 0.00000824
889. 7562982 c.695G>A p.R232H missense 0.00000824
890. 7558374 c.299A>T p.Q100L missense 0.00000824

* 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.