SCN5A variants in ExAC

SCN5A gene summary
SCN5A variants in

The table below lists the SCN5A variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 38674795 c.4G>A p.A2T missense 0.00002537●●●●●●
2. 38674791 c.8A>G p.N3S missense 0.00000845●●●●●●
3. 38674790 c.9C>G p.N3K missense 0.00000844●●●●●●
4. 38674779 c.20C>G p.P7R missense 0.00000843●●●●●●
5. 38674776 c.23G>C p.R8P missense 0.00000842●●●●●●
6. 38674776 c.23G>A p.R8Q missense 0.00005051●●●●●●
7. 38674774 c.25G>A p.G9S missense 0.00002524●●●●●●
8. 38674770 c.29C>G p.T10S missense 0.00000841●●●●●●
9. 38674759 c.40C>A p.R14S missense 0.00000838●●●●●●
10. 38674756 c.43A>G p.R15G missense 0.00001675●●●●●●
11. 38674755 c.44G>C p.R15T missense 0.00004187●●●●●●
12. 38674751 c.48C>G p.F16L missense 0.00000837●●●●●●
13. 38674747 c.52C>T p.R18W missense 0.00032601●●●●●●
14. 38674746 c.53G>A p.R18Q missense 0.00002506●●●●●●
15. 38674740 c.59C>T p.S20F missense 0.00000835●●●●●●
16. 38674734 c.65C>T p.A22V missense 0.00000833●●●●●●
17. 38674732 c.67G>T p.A23S missense 0.00000833●●●●●●
18. 38674726 c.73G>A p.E25K missense 0.00000833●●●●●●
19. 38674725 c.74A>G p.E25G missense 0.00000833●●●●●●
20. 38674720 c.79C>T p.R27C missense 0.00002497●●●●●●
21. 38674719 c.80G>A p.R27H missense 0.00023303●●●●●●
22. 38674719 c.80G>T p.R27L missense 0.00001665●●●●●●
23. 38674717 c.82A>T p.M28L missense 0.00001664●●●●●●
24. 38674716 c.83T>C p.M28T missense 0.00000832●●●●●●
25. 38674713 c.86C>T p.A29V missense 0.00007486●●●●●●
26. 38674699 c.100C>T p.R34C missense 0.00946245●●●●●●
27. 38674698 c.101G>A p.R34H missense 0.00002519●●●●●●
28. 38674696 c.103G>A p.G35S missense 0.00014304●●●●●●
29. 38674690 c.109A>G p.T37A missense 0.00001686●●●●●●
30. 38674671 c.128G>A p.R43Q missense 0.00003401●●●●●●
31. 38674657 c.142G>A p.E48K missense 0.00002557●●●●●●
32. 38674654 c.145G>A p.E49K missense 0.00000851●●●●●●
33. 38674647 c.152C>T p.A51V missense 0.00000849●●●●●●
34. 38674644 c.155C>A p.P52H missense 0.00000849●●●●●●
35. 38674641 c.158G>A p.R53Q missense 0.00000850●●●●●●
36. 38674614 c.185A>C p.K62T missense 0.00000842●●●●●●
37. 38674605 c.194C>T p.P65L missense 0.00000841●●●●●●
38. 38674593 c.206G>A p.G69D missense 0.00002533●●●●●●
39. 38674590 c.209A>G p.N70S missense 0.00003383●●●●●●
40. 38674589 c.210T>G p.N70K missense 0.00002538●●●●●●
41. 38674564 c.235C>T p.P79S missense 0.00000878●●●●●●
42. 38674564 c.235C>G p.P79A missense 0.00000878●●●●●●
43. 38674563 c.236C>A p.P79H missense 0.00000879●●●●●●
44. 38674553 c.246C>A p.D82E missense 0.00002678●●●●●●
45. 38674553 c.246C>G p.D82E missense 0.00000893●●●●●●
46. 38674546 c.253C>A p.P85T missense 0.00000900●●●●●●
47. 38674546 c.253C>T p.P85S missense 0.00000900●●●●●●
48. 38674543 c.256T>C p.F86L missense 0.00000901●●●●●●
49. 38674537 c.262A>G p.S88G missense 0.00000904●●●●●●
50. 38671925 c.274-5C>G splice site 0.00001657●●●●●●
51. 38671925 c.274-5C>T splice site 0.00000829●●●●●●
52. 38671919 c.275C>T p.T92I missense 0.00005798●●●●●●
53. 38671914 c.280A>G p.I94V missense 0.00001656●●●●●●
54. 38671911 c.283G>A p.V95I missense 0.00003313●●●●●●
55. 38671911 c.283G>C p.V95L missense 0.00000828●●●●●●
56. 38671892 c.302C>T p.T101I missense 0.00000828●●●●●●
57. 38671884 c.310C>T p.R104W missense 0.00000828●●●●●●
58. 38671877 c.317G>C p.S106T missense 0.00000828●●●●●●
59. 38671867 c.327C>A p.N109K missense 0.00000828●●●●●●
60. 38671866 c.328G>A p.A110T missense 0.00001656●●●●●●
61. 38671859 c.335A>G p.Y112C missense 0.00000828●●●●●●
62. 38671839 c.355C>T p.P119S missense 0.00001656●●●●●●
63. 38671838 c.356C>T p.P119L missense 0.00000828●●●●●●
64. 38671826 c.368C>T p.A123V missense 0.00004141●●●●●●
65. 38671821 c.373G>C p.V125L missense 0.00025676●●●●●●
66. 38671820 c.374T>G p.V125G missense 0.00000828●●●●●●
67. 38663985 c.393-5C>A splice site 0.00012968●●●●●●
68. 38663985 c.393-5C>T splice site 0.00001297●●●●●●
69. 38663981 c.393-1C>T essential splice site 0.00001262●●●●●●
70. 38663980 c.393G>A splice site 0.00001251●●●●●●
71. 38663970 c.403A>G p.M135V missense 0.00001169●●●●●●
72. 38663964 c.409A>G p.I137V missense 0.00002291●●●●●●
73. 38663959 c.414G>A p.M138I missense 0.00001130●●●●●●
74. 38663946 c.427A>G p.T143A missense 0.00001077●●●●●●
75. 38663937 c.436G>A p.V146M missense 0.00019118●●●●●●
76. 38663919 c.454G>A p.D152N missense 0.00002166●●●●●●
77. 38663897 c.476A>G p.Y159C missense 0.00001260●●●●●●
78. 38663893 c.480C>T splice site 0.00005291●●●●●●
79. 38663892 c.481G>A p.E161K missense 0.00002693●●●●●●
80. 38662461 c.484T>C p.Y162H missense 0.00000846●●●●●●
81. 38662460 c.485A>G p.Y162C missense 0.00000846●●●●●●
82. 38662449 c.496G>A p.A166T missense 0.00032201●●●●●●
83. 38662437 c.508T>A p.F170I missense 0.00000849●●●●●●
84. 38662425 c.520G>A p.V174I missense 0.00000860●●●●●●
85. 38662409 c.536G>A p.R179Q missense 0.00002722●●●●●●
86. 38662392 c.553G>A p.A185T missense 0.00038490●●●●●●
87. 38662391 c.554C>T p.A185V missense 0.00004341●●●●●●
88. 38662385 c.560C>G p.T187S missense 0.00002363●●●●●●
89. 38662377 c.568C>G p.R190G missense 0.00054606●●●●●●
90. 38662377 c.568C>T p.R190W missense 0.00001365●●●●●●
91. 38662376 c.569G>A p.R190Q missense 0.00011308●●●●●●
92. 38662376 c.569G>T p.R190L missense 0.00004241●●●●●●
93. 38662325 c.611+9C>G splice site 0.00003621●●●●●●
94. 38655327 c.612-2A>G essential splice site 0.00001451●●●●●●
95. 38655290 c.647C>T p.S216L missense 0.00100046●●●●●●
96. 38655282 c.655C>T p.R219C missense 0.00003863●●●●●●
97. 38655278 c.659C>T p.T220I missense 0.00101159●●●●●●
98. 38655264 c.673C>T p.R225W missense 0.00001425●●●●●●
99. 38655263 c.674G>A p.R225Q missense 0.00002900●●●●●●
100. 38655260 c.677C>T p.A226V missense 0.00013493●●●●●●
101. 38655257 c.680T>C p.L227P missense 0.00001571●●●●●●
102. 38655249 c.688A>G p.I230V missense 0.00001763●●●●●●
103. 38655243 c.694G>A p.V232I missense 0.00031192●●●●●●
104. 38655234 c.703G>A p.G235R missense 0.00002301●●●●●●
105. 38655228 c.703+6A>G splice site 0.00002509●●●●●●
106. 38651426 c.733C>A p.Q245K missense 0.00000828●●●●●●
107. 38651420 c.739G>C p.V247L missense 0.00005799●●●●●●
108. 38651375 c.784A>G p.S262G missense 0.00000828●●●●●●
109. 38651372 c.787G>A p.V263I missense 0.00001657●●●●●●
110. 38651365 c.794C>T p.A265V missense 0.00000828●●●●●●
111. 38651362 c.797T>A p.L266H missense 0.00000828●●●●●●
112. 38651357 c.802G>A p.G268S missense 0.00000828●●●●●●
113. 38651318 c.841G>A p.V281M missense 0.00000829●●●●●●
114. 38651314 c.845G>A p.R282H missense 0.00001657●●●●●●
115. 38651305 c.854C>A p.T285K missense 0.00000829●●●●●●
116. 38651303 c.856G>T p.A286S missense 0.00029009●●●●●●
117. 38651302 c.857C>T p.A286V missense 0.00000829●●●●●●
118. 38651296 c.863A>G p.N288S missense 0.00000829●●●●●●
119. 38651294 c.865G>A p.G289S missense 0.00002488●●●●●●
120. 38651291 c.868_876delACCAACGGC p.Thr290_Gly292del inframe 0.00000830●●●●●●
121. 38651285 c.874G>A p.G292S missense 0.00001659●●●●●●
122. 38651279 c.880G>A p.V294M missense 0.00003320●●●●●●
123. 38651276 c.883G>A p.E295K missense 0.00000830●●●●●●
124. 38651267 c.892G>A p.G298S missense 0.00003326●●●●●●
125. 38651266 c.893G>A p.G298D missense 0.00000832●●●●●●
126. 38651264 c.895T>A p.L299M missense 0.00015807●●●●●●
127. 38651262 c.897G>C p.L299F missense 0.00001665●●●●●●
128. 38651261 c.898G>A p.V300I missense 0.00000833●●●●●●
129. 38651246 c.913G>A p.D305N missense 0.00001678●●●●●●
130. 38651243 c.916C>G p.L306V missense 0.00000841●●●●●●
131. 38651243 c.916C>T p.L306F missense 0.00000841●●●●●●
132. 38651221 c.934+4C>T splice site 0.00029208●●●●●●
133. 38651220 c.934+5G>A splice site 0.00003561●●●●●●
134. 38649710 c.935-5T>C splice site 0.00009110●●●●●●
135. 38649709 c.935-4A>G splice site 0.00002484●●●●●●
136. 38649708 c.935-3C>T splice site 0.00000828●●●●●●
137. 38649691 c.949A>G p.K317E missense 0.00000828●●●●●●
138. 38649685 c.955G>A p.G319S missense 0.00005797●●●●●●
139. 38649681 c.959C>A p.T320N missense 0.00001656●●●●●●
140. 38649651 c.989C>T p.S330F missense 0.00000828●●●●●●
141. 38649646 c.994G>A p.A332T missense 0.00000828●●●●●●
142. 38649638 c.998+4T>C splice site 0.00000828●●●●●●
143. 38649637 c.998+5G>A splice site 0.00018220●●●●●●
144. 38648282 c.1018C>T p.R340W missense 0.00000839●●●●●●
145. 38648281 c.1019G>A p.R340Q missense 0.00009233●●●●●●
146. 38648264 c.1036G>A p.E346K missense 0.00002496●●●●●●
147. 38648263 c.1037A>G p.E346G missense 0.00000832●●●●●●
148. 38648258 c.1042C>G p.P348A missense 0.00000831●●●●●●
149. 38648255 c.1045G>A p.D349N missense 0.00001661●●●●●●
150. 38648249 c.1051G>A p.G351S missense 0.00000830●●●●●●
151. 38648230 c.1070_1074dupCCTTT p.Ala359ProfsTer12 frameshift 0.00000831●●●●●●
152. 38648201 c.1099C>T p.R367C missense 0.00000841●●●●●●
153. 38648152 c.1140+8T>C splice site 0.00001091●●●●●●
154. 38647642 c.1141-3C>A splice site 0.17223422●●●●●●
155. 38647630 c.1150T>A p.S384T missense 0.00000832●●●●●●
156. 38647627 c.1153G>A p.A385T missense 0.00000832●●●●●●
157. 38647617 c.1163T>G p.I388S missense 0.00000831●●●●●●
158. 38647574 c.1206C>G p.F402L missense 0.00000829●●●●●●
159. 38647570 c.1210C>G p.L404V missense 0.00000828●●●●●●
160. 38647551 c.1229C>T p.A410V missense 0.00000828●●●●●●
161. 38647543 c.1237G>A p.A413T missense 0.00001657●●●●●●
162. 38647537 c.1243G>A p.A415T missense 0.00000828●●●●●●
163. 38647533 c.1247A>G p.Y416C missense 0.00000828●●●●●●
164. 38647508 c.1272C>G p.I424M missense 0.00004973●●●●●●
165. 38647507 c.1273G>C p.A425P missense 0.00000829●●●●●●
166. 38647498 c.1282G>A p.E428K missense 0.00004978●●●●●●
167. 38647495 c.1285_1287delGAG p.Glu429del inframe 0.00000831●●●●●●
168. 38647483 c.1297C>T p.R433C missense 0.00001668●●●●●●
169. 38647483 c.1297C>A p.R433S missense 0.00000834●●●●●●
170. 38647470 c.1310C>T p.A437V missense 0.00000848●●●●●●
171. 38647459 c.1321C>T p.L441F missense 0.00000862●●●●●●
172. 38647447 c.1333C>G p.H445D missense 0.00005257●●●●●●
173. 38647445 c.1335C>A p.H445Q missense 0.00000879●●●●●●
174. 38647444 c.1336G>A p.E446K missense 0.00072239●●●●●●
175. 38646398 c.1340C>G p.A447G missense 0.00007533●●●●●●
176. 38646397 c.1341C>T splice site 0.00002128●●●●●●
177. 38646393 c.1345A>G p.T449A missense 0.00002085●●●●●●
178. 38646372 c.1366G>A p.V456M missense 0.00001889●●●●●●
179. 38646366 c.1372C>T p.R458C missense 0.00019475●●●●●●
180. 38646357 c.1381T>G p.L461V missense 0.00116287●●●●●●
181. 38646354 c.1384G>A p.E462K missense 0.00006254●●●●●●
182. 38646350 c.1388T>C p.M463T missense 0.00000885●●●●●●
183. 38646350 c.1388T>G p.M463R missense 0.00000885●●●●●●
184. 38646340 c.1398G>T p.L466F missense 0.00003481●●●●●●
185. 38646335 c.1403C>T p.P468L missense 0.00000867●●●●●●
186. 38646317 c.1421G>A p.R474K missense 0.00001697●●●●●●
187. 38646314 c.1424G>A p.R475K missense 0.00000846●●●●●●
188. 38646313 c.1425A>C p.R475S missense 0.00002536●●●●●●
189. 38646298 c.1440A>C p.K480N missense 0.00000838●●●●●●
190. 38646297 c.1441C>T p.R481W missense 0.00113007●●●●●●
191. 38646296 c.1442G>A p.R481Q missense 0.00000837●●●●●●
192. 38646282 c.1456A>G p.T486A missense 0.00000833●●●●●●
193. 38646269 c.1469G>A p.G490E missense 0.00000832●●●●●●
194. 38646227 c.1511G>C p.R504T missense 0.00000842●●●●●●
195. 38646224 c.1514C>A p.A505E missense 0.00001689●●●●●●
196. 38646221 c.1517T>A p.M506K missense 0.00000847●●●●●●
197. 38646220 c.1518G>A p.M506I missense 0.00000849●●●●●●
198. 38645580 c.1519-6C>T splice site 0.00001709●●●●●●
199. 38645558 c.1535C>T p.T512I missense 0.00001490●●●●●●
200. 38645556 c.1537C>T p.R513C missense 0.00004433●●●●●●
201. 38645542 c.1551G>C p.R517S missense 0.00001341●●●●●●
202. 38645535 c.1558A>G p.M520V missense 0.00006381●●●●●●
203. 38645525 c.1568G>A p.R523H missense 0.00001208●●●●●●
204. 38645523 c.1570_1571insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG p.Ser524PhefsTer7 frameshift 0.00001184●●●●●●
205. 38645522 c.1571C>A p.S524Y missense 0.00511545●●●●●●
206. 38645517 c.1576C>T p.R526C missense 0.00009145●●●●●●
207. 38645516 c.1577G>A p.R526H missense 0.00006845●●●●●●
208. 38645514 c.1579G>A p.G527R missense 0.00004435●●●●●●
209. 38645509 c.1584C>A p.S528R missense 0.00002158●●●●●●
210. 38645505 c.1588T>G p.F530V missense 0.00002029●●●●●●
211. 38645504 c.1589T>C p.F530S missense 0.00001000●●●●●●
212. 38645502 c.1591A>G p.T531A missense 0.00001965●●●●●●
213. 38645501 c.1592C>T p.T531I missense 0.00000973●●●●●●
214. 38645499 c.1594T>C p.F532L missense 0.00000960●●●●●●
215. 38645498 c.1595T>G p.F532C missense 0.00001904●●●●●●
216. 38645496 c.1597C>T p.R533C missense 0.00000949●●●●●●
217. 38645496 c.1597C>A p.R533S missense 0.00002846●●●●●●
218. 38645495 c.1598G>A p.R533H missense 0.00011272●●●●●●
219. 38645489 c.1604G>A p.R535Q missense 0.00001834●●●●●●
220. 38645480 c.1613G>A p.G538D missense 0.00000880●●●●●●
221. 38645441 c.1652C>T p.A551V missense 0.00004171●●●●●●
222. 38645439 c.1654G>C p.G552R missense 0.00001667●●●●●●
223. 38645439 c.1654G>T p.G552W missense 0.00001667●●●●●●
224. 38645430 c.1663G>A p.E555K missense 0.00004995●●●●●●
225. 38645424 c.1669C>T p.H557Y missense 0.00001661●●●●●●
226. 38645420 c.1673A>G p.H558R missense 0.22173617●●●●●●
227. 38645417 c.1676C>T p.T559I missense 0.00000830●●●●●●
228. 38645417 c.1676C>G p.T559R missense 0.00000830●●●●●●
229. 38645393 c.1700T>A p.L567Q missense 0.00000829●●●●●●
230. 38645391 c.1702C>T p.R568C missense 0.00005806●●●●●●
231. 38645390 c.1703G>A p.R568H missense 0.00002488●●●●●●
232. 38645388 c.1705C>T p.R569W missense 0.00000829●●●●●●
233. 38645387 c.1706G>A p.R569Q missense 0.00001659●●●●●●
234. 38645384 c.1709C>A p.T570N missense 0.00000829●●●●●●
235. 38645381 c.1712G>T p.S571I missense 0.00001658●●●●●●
236. 38645379 c.1714G>T p.A572S missense 0.00019073●●●●●●
237. 38645378 c.1715C>A p.A572D missense 0.00430377●●●●●●
238. 38645378 c.1715C>T p.A572V missense 0.00019073●●●●●●
239. 38645376 c.1717C>G p.Q573E missense 0.00000829●●●●●●
240. 38645358 c.1735G>A p.G579R missense 0.00011622●●●●●●
241. 38645351 c.1742C>T p.S581L missense 0.00001661●●●●●●
242. 38645343 c.1750G>C p.G584R missense 0.00002495●●●●●●
243. 38645337 c.1756_1761delGCCCTC p.Ala586_Leu587del inframe 0.00015051●●●●●●
244. 38645336 c.1757C>G p.A586G missense 0.00000835●●●●●●
245. 38645331 c.1762C>A p.H588N missense 0.00000836●●●●●●
246. 38645317 c.1776C>G p.N592K missense 0.00005089●●●●●●
247. 38645298 c.1795G>A p.G599R missense 0.00000880●●●●●●
248. 38645273 c.1820G>T p.G607V missense 0.00006371●●●●●●
249. 38645273 c.1820G>A p.G607D missense 0.00000910●●●●●●
250. 38645271 c.1822G>C p.D608H missense 0.00000913●●●●●●
251. 38645271 c.1822G>A p.D608N missense 0.00000913●●●●●●
252. 38645265 c.1828G>A p.E610K missense 0.00000915●●●●●●
253. 38645249 c.1844G>A p.G615E missense 0.00023005●●●●●●
254. 38645246 c.1847G>A p.S616N missense 0.00000921●●●●●●
255. 38645241 c.1852C>T p.L618F missense 0.00057249●●●●●●
256. 38645238 c.1855C>T p.L619F missense 0.00003699●●●●●●
257. 38645235 c.1858C>T p.R620C missense 0.00000927●●●●●●
258. 38645234 c.1859G>A p.R620H missense 0.00002784●●●●●●
259. 38645225 c.1868T>C p.M623T missense 0.00000931●●●●●●
260. 38645218 c.1875G>C p.E625D missense 0.00003739●●●●●●
261. 38645213 c.1880C>T p.P627L missense 0.00000938●●●●●●
262. 38645204 c.1889C>T p.T630M missense 0.00005657●●●●●●
263. 38645196 c.1890+7C>T splice site 0.00001895●●●●●●
264. 38640549 c.1891-8G>C splice site 0.00001847●●●●●●
265. 38640549 c.1891-8G>A splice site 0.00002771●●●●●●
266. 38640546 c.1891-5C>T splice site 0.00001837●●●●●●
267. 38640537 c.1895C>T p.T632M missense 0.00000902●●●●●●
268. 38640531 c.1901C>T p.S634L missense 0.00004418●●●●●●
269. 38640531 c.1901C>G p.S634W missense 0.00000884●●●●●●
270. 38640526 c.1906G>A p.E636K missense 0.00000876●●●●●●
271. 38640514 c.1918C>T p.P640S missense 0.00000857●●●●●●
272. 38640493 c.1939G>T p.A647S missense 0.00001686●●●●●●
273. 38640492 c.1940C>T p.A647V missense 0.00000842●●●●●●
274. 38640489 c.1943C>T p.P648L missense 0.00003367●●●●●●
275. 38640487 c.1945T>C p.C649R missense 0.00000840●●●●●●
276. 38640477 c.1955G>A p.G652D missense 0.00000836●●●●●●
277. 38640472 c.1960G>A p.E654K missense 0.00004178●●●●●●
278. 38640465 c.1967C>T p.P656L missense 0.00039225●●●●●●
279. 38640459 c.1973C>T p.A658V missense 0.00000834●●●●●●
280. 38640457 c.1975C>T p.R659W missense 0.00003334●●●●●●
281. 38640456 c.1976G>A p.R659Q missense 0.00000834●●●●●●
282. 38640451 c.1981C>T p.R661W missense 0.00002500●●●●●●
283. 38640448 c.1984G>T p.A662S missense 0.00002499●●●●●●
284. 38640439 c.1993G>T p.A665S missense 0.00001665●●●●●●
285. 38640439 c.1993G>A p.A665T missense 0.00004162●●●●●●
286. 38640430 c.2002G>A p.V668I missense 0.00001665●●●●●●
287. 38640421 c.2011A>T p.S671C missense 0.00000832●●●●●●
288. 38640418 c.2014G>A p.A672T missense 0.00088993●●●●●●
289. 38639464 c.2024-6C>T splice site 0.00000860●●●●●●
290. 38639463 c.2024-5C>T splice site 0.00000859●●●●●●
291. 38639452 c.2030A>T p.E677V missense 0.00000851●●●●●●
292. 38639444 c.2038C>T p.R680C missense 0.00001693●●●●●●
293. 38639417 c.2065C>T p.R689C missense 0.00001664●●●●●●
294. 38639416 c.2066G>A p.R689H missense 0.00011647●●●●●●
295. 38639411 c.2071G>A p.A691T missense 0.00004985●●●●●●
296. 38639411 c.2071G>T p.A691S missense 0.00000831●●●●●●
297. 38639408 c.2074C>A p.Q692K missense 0.00028223●●●●●●
298. 38639405 c.2077C>T p.R693C missense 0.00004976●●●●●●
299. 38639404 c.2078G>A p.R693H missense 0.00001658●●●●●●
300. 38639380 c.2102C>T p.P701L missense 0.00011594●●●●●●
301. 38639368 c.2114C>T p.S705F missense 0.00006624●●●●●●
302. 38639341 c.2141T>C p.V714A missense 0.00005795●●●●●●
303. 38639332 c.2150C>T p.P717L missense 0.00000828●●●●●●
304. 38639328 c.2154T>G p.F718L missense 0.00000828●●●●●●
305. 38639311 c.2171C>T p.T724I missense 0.00000828●●●●●●
306. 38639292 c.2190C>A p.N730K missense 0.00000828●●●●●●
307. 38639283 c.2199C>G p.F733L missense 0.00001656●●●●●●
308. 38639278 c.2204C>T p.A735V missense 0.00000828●●●●●●
309. 38639258 c.2224A>G p.T742A missense 0.00000829●●●●●●
310. 38639246 c.2236G>A p.E746K missense 0.00001661●●●●●●
311. 38639242 c.2240A>C p.E747A missense 0.00000832●●●●●●
312. 38639231 c.2251G>A p.V751I missense 0.00000837●●●●●●
313. 38639231 c.2251G>T p.V751F missense 0.00000837●●●●●●
314. 38629062 c.2265C>G splice site 0.00000830●●●●●●
315. 38629062 c.2265C>A splice site 0.00000830●●●●●●
316. 38629052 c.2275A>G p.I759V missense 0.00000830●●●●●●
317. 38629048 c.2279delT p.Phe760SerfsTer5 frameshift 0.00000829●●●●●●
318. 38629040 c.2287G>A p.E763K missense 0.00001658●●●●●●
319. 38629038 c.2289G>C p.E763D missense 0.00000829●●●●●●
320. 38629013 c.2314G>A p.D772N missense 0.00001658●●●●●●
321. 38628977 c.2350T>C p.F784L missense 0.00000831●●●●●●
322. 38628962 c.2365G>A p.V789I missense 0.00007501●●●●●●
323. 38628961 c.2366T>C p.V789A missense 0.00000833●●●●●●
324. 38628929 c.2398C>T p.R800C missense 0.00001695●●●●●●
325. 38628928 c.2399G>T p.R800L missense 0.00000850●●●●●●
326. 38628928 c.2399G>A p.R800H missense 0.00001700●●●●●●
327. 38628913 c.2414C>T p.S805L missense 0.00001730●●●●●●
328. 38628911 c.2416G>A p.V806M missense 0.00000870●●●●●●
329. 38628905 c.2422C>T p.R808C missense 0.00000884●●●●●●
330. 38628904 c.2423G>A p.R808H missense 0.00001777●●●●●●
331. 38628895 c.2432G>A p.R811H missense 0.00000927●●●●●●
332. 38628886 c.2436+5C>A splice site 0.00000965●●●●●●
333. 38628885 c.2436+6T>C splice site 0.00000969●●●●●●
334. 38627537 c.2437-5C>A splice site 0.00034623●●●●●●
335. 38627528 c.2441G>A p.R814Q missense 0.00001762●●●●●●
336. 38627472 c.2497G>A p.G833R missense 0.00016505●●●●●●
337. 38627463 c.2506G>A p.V836M missense 0.00000825●●●●●●
338. 38627446 c.2523C>A p.N841K missense 0.00000825●●●●●●
339. 38627416 c.2553C>A p.F851L missense 0.00000825●●●●●●
340. 38627399 c.2570G>A p.G857D missense 0.00000825●●●●●●
341. 38627397 c.2572A>T p.M858L missense 0.00000825●●●●●●
342. 38627373 c.2596T>C p.S866P missense 0.00000825●●●●●●
343. 38627372 c.2597C>T p.S866L missense 0.00001650●●●●●●
344. 38627362 c.2607G>C p.R869S missense 0.00000825●●●●●●
345. 38627355 c.2614G>A p.D872N missense 0.00001651●●●●●●
346. 38627352 c.2617T>G p.S873A missense 0.00000825●●●●●●
347. 38627348 c.2621G>A p.G874D missense 0.00000825●●●●●●
348. 38627297 c.2672T>C p.I891T missense 0.00000826●●●●●●
349. 38627297 c.2672T>A p.I891N missense 0.00000826●●●●●●
350. 38627292 c.2677C>T p.R893C missense 0.00000826●●●●●●
351. 38627287 c.2682C>G p.I894M missense 0.00000826●●●●●●
352. 38627286 c.2683C>T p.L895F missense 0.00000826●●●●●●
353. 38627262 c.2707delA p.Met903CysfsTer29 frameshift 0.00000826●●●●●●
354. 38627199 c.2770G>A p.V924I missense 0.00013737●●●●●●
355. 38627188 c.2781C>G p.N927K missense 0.00000857●●●●●●
356. 38622872 c.2788-10A>T splice site 0.00001104●●●●●●
357. 38622868 c.2788-6C>T splice site 0.03963846●●●●●●
358. 38622867 c.2788-5G>A splice site 0.00001059●●●●●●
359. 38622816 c.2834A>G p.D945G missense 0.00001746●●●●●●
360. 38622796 c.2854G>A p.E952K missense 0.00000871●●●●●●
361. 38622793 c.2857G>T p.D953Y missense 0.00000872●●●●●●
362. 38622791 c.2859C>G p.D953E missense 0.00000874●●●●●●
363. 38622766 c.2884G>A p.A962T missense 0.00000911●●●●●●
364. 38622757 c.2893C>T p.R965C missense 0.00006504●●●●●●
365. 38622757 c.2893C>G p.R965G missense 0.00000929●●●●●●
366. 38622756 c.2894G>A p.R965H missense 0.00001878●●●●●●
367. 38622745 c.2905G>T p.G969C missense 0.00001893●●●●●●
368. 38622739 c.2911C>T p.R971C missense 0.00000959●●●●●●
369. 38622738 c.2912G>A p.R971H missense 0.00000960●●●●●●
370. 38622727 c.2923C>T p.R975W missense 0.00001943●●●●●●
371. 38622726 c.2924G>A p.R975Q missense 0.00000970●●●●●●
372. 38622715 c.2935G>C p.D979H missense 0.00000976●●●●●●
373. 38622706 c.2944T>C p.C982R missense 0.00008792●●●●●●
374. 38622693 c.2957G>A p.R986Q missense 0.00001975●●●●●●
375. 38622688 c.2962C>T p.R988W missense 0.00003963●●●●●●
376. 38622687 c.2963G>A p.R988Q missense 0.00003947●●●●●●
377. 38622684 c.2966C>T p.P989L missense 0.00000983●●●●●●
378. 38622679 c.2971A>G p.K991E missense 0.00000981●●●●●●
379. 38622673 c.2977G>A p.A993T missense 0.00001960●●●●●●
380. 38622667 c.2983C>T p.L995F missense 0.00001940●●●●●●
381. 38622661 c.2989G>A p.A997T missense 0.00012477●●●●●●
382. 38622660 c.2990C>A p.A997D missense 0.00001915●●●●●●
383. 38622651 c.2999A>T p.Q1000L missense 0.00000942●●●●●●
384. 38622651 c.2999_3001delAGC p.Gln1000del inframe 0.00002806●●●●●●
385. 38622646 c.3004C>T p.P1002S missense 0.00001863●●●●●●
386. 38622640 c.3010T>C p.C1004R missense 0.00031447●●●●●●
387. 38622636 c.3014T>C p.I1005T missense 0.00000911●●●●●●
388. 38622630 c.3020C>T p.T1007I missense 0.00000902●●●●●●
389. 38622627 c.3023C>T p.P1008L missense 0.00000899●●●●●●
390. 38622619 c.3031C>T p.P1011S missense 0.00002676●●●●●●
391. 38622618 c.3032C>T p.P1011L missense 0.00003570●●●●●●
392. 38622607 c.3043G>A p.E1015K missense 0.00000874●●●●●●
393. 38622603 c.3047C>T p.T1016M missense 0.00009559●●●●●●
394. 38622598 c.3052A>G p.K1018E missense 0.00000863●●●●●●
395. 38622583 c.3067C>T p.R1023C missense 0.00002549●●●●●●
396. 38622582 c.3068G>A p.R1023H missense 0.00035665●●●●●●
397. 38622582 c.3068G>C p.R1023P missense 0.00000849●●●●●●
398. 38622570 c.3080G>A p.R1027Q missense 0.00005059●●●●●●
399. 38622556 c.3094G>A p.E1032K missense 0.00005033●●●●●●
400. 38622554 c.3096G>T p.E1032D missense 0.00000839●●●●●●
401. 38622541 c.3109G>A p.G1037S missense 0.00000836●●●●●●
402. 38622540 c.3110G>T p.G1037V missense 0.00000836●●●●●●
403. 38622532 c.3118G>A p.G1040R missense 0.00005015●●●●●●
404. 38622532 c.3118G>C p.G1040R missense 0.00000836●●●●●●
405. 38622529 c.3121G>A p.D1041N missense 0.00007514●●●●●●
406. 38622528 c.3122A>G p.D1041G missense 0.00000835●●●●●●
407. 38622517 c.3133G>A p.V1045M missense 0.00002500●●●●●●
408. 38622498 c.3152T>C p.V1051A missense 0.00000832●●●●●●
409. 38622493 c.3157G>A p.E1053K missense 0.00009987●●●●●●
410. 38622467 c.3183A>C p.E1061D missense 0.00001659●●●●●●
411. 38622466 c.3184G>C p.D1062H missense 0.00000843●●●●●●
412. 38622462 c.3188A>G p.E1063G missense 0.00000846●●●●●●
413. 38622460 c.3190_3192delGAG p.Glu1064del inframe 0.00001699●●●●●●
414. 38622454 c.3196A>G p.S1066G missense 0.00000853●●●●●●
415. 38622447 c.3203G>A p.G1068D missense 0.00000865●●●●●●
416. 38622447 c.3203G>C p.G1068A missense 0.00000865●●●●●●
417. 38622444 c.3206C>T p.T1069M missense 0.00012178●●●●●●
418. 38622436 c.3214_3216delGAG p.Glu1072del inframe 0.00000888●●●●●●
419. 38622416 c.3228+6C>G splice site 0.00006435●●●●●●
420. 38622414 c.3228+8C>T splice site 0.00000922●●●●●●
421. 38620986 c.3229C>A p.Q1077K missense 0.00000929●●●●●●
422. 38620980 c.3235T>A p.S1079T missense 0.00000927●●●●●●
423. 38620970 c.3245T>C p.V1082A missense 0.00000914●●●●●●
424. 38620967 c.3248C>G p.S1083C missense 0.00000910●●●●●●
425. 38620953 c.3262G>A p.A1088T missense 0.00006309●●●●●●
426. 38620952 c.3263C>T p.A1088V missense 0.00000902●●●●●●
427. 38620946 c.3269C>T p.P1090L missense 0.00171474●●●●●●
428. 38620943 c.3272A>C p.D1091A missense 0.00000903●●●●●●
429. 38620930 c.3285G>T p.W1095C missense 0.00001821●●●●●●
430. 38620923 c.3292G>T p.V1098L missense 0.00014761●●●●●●
431. 38620917 c.3298G>A p.A1100T missense 0.00000937●●●●●●
432. 38620916 c.3299C>T p.A1100V missense 0.00005657●●●●●●
433. 38620907 c.3308C>A p.S1103Y missense 0.00799020●●●●●●
434. 38620907 c.3308C>T p.S1103F missense 0.00001961●●●●●●
435. 38620901 c.3314A>T p.E1105V missense 0.00001022●●●●●●
436. 38620896 c.3319G>A p.E1107K missense 0.00018418●●●●●●
437. 38620890 c.3325A>G p.S1109G missense 0.00004581●●●●●●
438. 38620877 c.3338C>T p.A1113V missense 0.00001343●●●●●●
439. 38620875 c.3340G>A p.D1114N missense 0.00001402●●●●●●
440. 38620872 c.3343T>C p.W1115R missense 0.00001456●●●●●●
441. 38620869 c.3346C>T p.R1116W missense 0.00001554●●●●●●
442. 38620868 c.3347G>A p.R1116Q missense 0.00017588●●●●●●
443. 38620853 c.3362C>T p.A1121V missense 0.00010451●●●●●●
444. 38620841 c.3374C>G p.A1125G missense 0.00007867●●●●●●
445. 38620827 c.3388G>A p.E1130K missense 0.00003718●●●●●●
446. 38618279 c.3391-7T>C splice site 0.00027924●●●●●●
447. 38618272 c.3391A>T p.T1131S missense 0.00002228●●●●●●
448. 38618271 c.3392C>T p.T1131I missense 0.00004455●●●●●●
449. 38618270 c.3393C>T p.T1131T splice site 0.00001114●●●●●●
450. 38618269 c.3394C>T p.P1132S missense 0.00001114●●●●●●
451. 38618263 c.3400G>A p.D1134N missense 0.00001114●●●●●●
452. 38618259 c.3404G>T p.S1135I missense 0.00004450●●●●●●
453. 38618251 c.3412G>A p.E1138K missense 0.00001118●●●●●●
454. 38618223 c.3440C>A p.T1147N missense 0.00006652●●●●●●
455. 38618223 c.3440C>T p.T1147I missense 0.00001109●●●●●●
456. 38618221 c.3442G>T p.A1148S missense 0.00001116●●●●●●
457. 38618221 c.3442G>A p.A1148T missense 0.00003348●●●●●●
458. 38618204 c.3459G>C p.Q1153H missense 0.00005455●●●●●●
459. 38618200 c.3463C>T p.P1155S missense 0.00002171●●●●●●
460. 38618196 c.3467A>G p.D1156G missense 0.00004324●●●●●●
461. 38618170 c.3493G>C p.E1165Q missense 0.00001053●●●●●●
462. 38618157 c.3506C>T p.T1169I missense 0.00001038●●●●●●
463. 38618142 c.3511+10C>T splice site 0.00643103●●●●●●
464. 38618141 c.3511+11G>A splice site 0.00010339●●●●●●
465. 38616936 c.3518T>A p.V1173D missense 0.00001495●●●●●●
466. 38616934 c.3520C>T p.R1174W missense 0.00002983●●●●●●
467. 38616933 c.3521G>A p.R1174Q missense 0.00002954●●●●●●
468. 38616930 c.3524G>A p.R1175H missense 0.00005767●●●●●●
469. 38616915 c.3539C>T p.A1180V missense 0.00014673●●●●●●
470. 38616912 c.3542T>C p.V1181A missense 0.00003900●●●●●●
471. 38616898 c.3556G>A p.A1186T missense 0.00002453●●●●●●
472. 38616894 c.3560C>A p.P1187Q missense 0.00002420●●●●●●
473. 38616877 c.3577C>T p.R1193W missense 0.00010388●●●●●●
474. 38616876 c.3578G>A p.R1193Q missense 0.00621531●●●●●●
475. 38616870 c.3584G>A p.R1195H missense 0.00004519●●●●●●
476. 38616851 c.3603C>G p.I1201M missense 0.00001050●●●●●●
477. 38616832 c.3622G>A p.E1208K missense 0.00002030●●●●●●
478. 38616811 c.3643A>G p.I1215V missense 0.00000993●●●●●●
479. 38616792 c.3662C>T p.A1221V missense 0.00003077●●●●●●
480. 38616784 c.3666+4C>G splice site 0.00005243●●●●●●
481. 38616778 c.3666+10T>C splice site 0.00003204●●●●●●
482. 38608080 c.3667-7T>A splice site 0.00006628●●●●●●
483. 38608077 c.3667-4G>A splice site 0.00000828●●●●●●
484. 38608058 c.3682T>C p.Y1228H missense 0.00000828●●●●●●
485. 38608057 c.3683A>G p.Y1228C missense 0.00000828●●●●●●
486. 38608052 c.3688G>A p.E1230K missense 0.00002482●●●●●●
487. 38608045 c.3695G>A p.R1232Q missense 0.00001654●●●●●●
488. 38608022 c.3718G>C p.E1240Q missense 0.00004127●●●●●●
489. 38608013 c.3727G>A p.D1243N missense 0.00013198●●●●●●
490. 38608005 c.3735G>A p.M1245I missense 0.00000825●●●●●●
491. 38608000 c.3740C>T p.T1247I missense 0.00005771●●●●●●
492. 38607989 c.3751G>A p.V1251M missense 0.00026373●●●●●●
493. 38607977 c.3763C>A p.L1255M missense 0.00000824●●●●●●
494. 38607956 c.3784G>A p.G1262S missense 0.00003296●●●●●●
495. 38607948 c.3792G>C p.K1264N missense 0.00000824●●●●●●
496. 38607934 c.3806A>G p.N1269S missense 0.00000824●●●●●●
497. 38607921 c.3819G>T p.W1273C missense 0.00000824●●●●●●
498. 38607905 c.3835G>A p.V1279I missense 0.00016520●●●●●●
499. 38607900 c.3840C>T splice site 0.00002481●●●●●●
500. 38607893 c.3840+7G>T splice site 0.00000829●●●●●●
501. 38607892 c.3840+8T>C splice site 0.00010779●●●●●●
502. 38607892 c.3840+8_3840+9delTG splice site 0.00005809●●●●●●
503. 38607892 c.3840+8_3840+9dupTG splice site 0.00002490●●●●●●
504. 38603991 c.3878T>C p.F1293S missense 0.00040363●●●●●●
505. 38603988 c.3881C>G p.A1294G missense 0.00000864●●●●●●
506. 38603982 c.3887T>C p.M1296T missense 0.00000870●●●●●●
507. 38603958 c.3911C>T p.T1304M missense 0.00022498●●●●●●
508. 38603952 c.3917G>A p.R1306H missense 0.00000980●●●●●●
509. 38603947 c.3922C>T p.L1308F missense 0.00055339●●●●●●
510. 38603943 c.3926G>A p.R1309H missense 0.00001048●●●●●●
511. 38603922 c.3947G>A p.R1316Q missense 0.00002548●●●●●●
512. 38603922 c.3947G>T p.R1316L missense 0.00001274●●●●●●
513. 38603919 c.3950T>G p.F1317C missense 0.00002605●●●●●●
514. 38603913 c.3956G>T p.G1319V missense 0.00001415●●●●●●
515. 38603909 c.3960G>A p.M1320I missense 0.00001481●●●●●●
516. 38603905 c.3963+1G>A essential splice site 0.00001557●●●●●●
517. 38601898 c.3985G>A p.G1329S missense 0.00001693●●●●●●
518. 38601883 c.4000A>G p.I1334V missense 0.00000834●●●●●●
519. 38601871 c.4012C>G p.L1338V missense 0.00000826●●●●●●
520. 38601865 c.4018G>A p.V1340I missense 0.00004951●●●●●●
521. 38601835 c.4048A>C p.I1350L missense 0.00000824●●●●●●
522. 38601826 c.4057G>A p.V1353M missense 0.00004943●●●●●●
523. 38601813 c.4070C>T p.A1357V missense 0.00008240●●●●●●
524. 38601807 c.4076A>T p.K1359M missense 0.00000824●●●●●●
525. 38601797 c.4086G>T p.R1362S missense 0.00000824●●●●●●
526. 38601786 c.4097A>G p.Q1366R missense 0.00000825●●●●●●
527. 38601785 c.4098G>T p.Q1366H missense 0.00000825●●●●●●
528. 38601774 c.4109A>G p.D1370G missense 0.00007434●●●●●●
529. 38601760 c.4123T>C p.Y1375H missense 0.00000828●●●●●●
530. 38601752 c.4131C>G p.I1377M missense 0.00000830●●●●●●
531. 38601751 c.4132G>A p.V1378M missense 0.00000831●●●●●●
532. 38601722 c.4161G>C p.L1387F missense 0.00001684●●●●●●
533. 38601712 c.4171G>A p.G1391R missense 0.00003412●●●●●●
534. 38601634 c.4245+4A>G splice site 0.00001219●●●●●●
535. 38598779 c.4246-4C>T splice site 0.00002487●●●●●●
536. 38598754 c.4267G>C p.D1423H missense 0.00000828●●●●●●
537. 38598751 c.4270A>G p.I1424V missense 0.00000828●●●●●●
538. 38598739 c.4282G>T p.A1428S missense 0.00002486●●●●●●
539. 38598714 c.4299+8G>A splice site 0.00000831●●●●●●
540. 38598713 c.4299+9C>A splice site 0.00009974●●●●●●
541. 38598070 c.4300-1G>T essential splice site 0.00000891●●●●●●
542. 38598067 c.4302T>C p.Y1434Y splice site 0.00026680●●●●●●
543. 38598052 c.4317G>C p.Q1439H missense 0.00000887●●●●●●
544. 38598045 c.4324T>A p.Y1442N missense 0.00000890●●●●●●
545. 38598044 c.4325A>G p.Y1442C missense 0.00000891●●●●●●
546. 38598036 c.4333T>C p.Y1445H missense 0.00006331●●●●●●
547. 38598027 c.4342A>C p.I1448L missense 0.00002780●●●●●●
548. 38597928 c.4437+4C>T splice site 0.00010193●●●●●●
549. 38597928 c.4437+4C>G splice site 0.00002548●●●●●●
550. 38597240 c.4449G>C p.Q1483H missense 0.00000824●●●●●●
551. 38597211 c.4478A>G p.K1493R missense 0.00002471●●●●●●
552. 38597188 c.4501C>G p.L1501V missense 0.00002471●●●●●●
553. 38597172 c.4517C>T p.P1506L missense 0.00000824●●●●●●
554. 38597164 c.4525C>A p.P1509T missense 0.00000824●●●●●●
555. 38597155 c.4534C>T p.R1512W missense 0.00007427●●●●●●
556. 38597154 c.4535G>A p.R1512Q missense 0.00002477●●●●●●
557. 38597154 c.4535G>T p.R1512L missense 0.00000826●●●●●●
558. 38597147 c.4542G>C splice site 0.00000827●●●●●●
559. 38596049 c.4543-9_4543-8delTC splice site 0.00000839●●●●●●
560. 38596047 c.4543-7C>T splice site 0.00004194●●●●●●
561. 38596039 c.4544A>G p.N1515S missense 0.00000836●●●●●●
562. 38596016 c.4567G>A p.D1523N missense 0.00004975●●●●●●
563. 38596010 c.4573G>A p.V1525M missense 0.00000829●●●●●●
564. 38595997 c.4586C>T p.A1529V missense 0.00000828●●●●●●
565. 38595989 c.4594G>A p.V1532I missense 0.00033955●●●●●●
566. 38595989 c.4594G>T p.V1532F missense 0.00003313●●●●●●
567. 38595967 c.4616G>A p.C1539Y missense 0.00000828●●●●●●
568. 38595956 c.4627G>C p.V1543L missense 0.00000828●●●●●●
569. 38595932 c.4651G>A p.D1551N missense 0.00000828●●●●●●
570. 38595920 c.4663G>A p.E1555K missense 0.00000828●●●●●●
571. 38595914 c.4669A>G p.I1557V missense 0.00000828●●●●●●
572. 38595908 c.4675A>G p.I1559V missense 0.00005796●●●●●●
573. 38595884 c.4699T>C p.F1567L missense 0.00000828●●●●●●
574. 38595835 c.4748G>A p.R1583H missense 0.00002485●●●●●●
575. 38595829 c.4754A>G p.Y1585C missense 0.00000828●●●●●●
576. 38595797 c.4786T>A p.F1596I missense 0.00006651●●●●●●
577. 38595796 c.4787T>G p.F1596C missense 0.00000832●●●●●●
578. 38595794 c.4789G>A p.V1597M missense 0.00001667●●●●●●
579. 38595790 c.4793T>C p.V1598A missense 0.00000836●●●●●●
580. 38595773 c.4810G>A p.V1604M missense 0.00003419●●●●●●
581. 38595769 c.4813+1G>A essential splice site 0.00000862●●●●●●
582. 38595763 c.4813+7A>G splice site 0.00000869●●●●●●
583. 38595762 c.4813+8T>C splice site 0.00000870●●●●●●
584. 38593054 c.4814-5C>T splice site 0.00000855●●●●●●
585. 38593049 c.4814G>A p.G1605D missense 0.00000851●●●●●●
586. 38593046 c.4817C>T p.T1606I missense 0.00001698●●●●●●
587. 38593037 c.4826C>T p.S1609L missense 0.00001680●●●●●●
588. 38593034 c.4829A>G p.D1610G missense 0.00000838●●●●●●
589. 38593013 c.4850_4852delTCT inframe 0.00000827●●●●●●
590. 38593007 c.4856C>A p.P1619Q missense 0.00000827●●●●●●
591. 38593004 c.4859C>T p.T1620M missense 0.00000826●●●●●●
592. 38592986 c.4877G>A p.R1626H missense 0.00006597●●●●●●
593. 38592978 c.4885C>T p.R1629X nonsense 0.00000824●●●●●●
594. 38592968 c.4895G>A p.R1632H missense 0.00000824●●●●●●
595. 38592951 c.4912C>T p.R1638X nonsense 0.00002471●●●●●●
596. 38592950 c.4913G>A p.R1638Q missense 0.00001647●●●●●●
597. 38592947 c.4916G>C p.G1639A missense 0.00000824●●●●●●
598. 38592932 c.4931G>T p.R1644L missense 0.00000824●●●●●●
599. 38592929 c.4934C>T p.T1645M missense 0.00002471●●●●●●
600. 38592885 c.4978A>G p.I1660V missense 0.00002471●●●●●●
601. 38592860 c.5003T>C p.M1668T missense 0.00000824●●●●●●
602. 38592836 c.5027T>C p.M1676T missense 0.00000824●●●●●●
603. 38592835 c.5028G>A p.M1676I missense 0.00003295●●●●●●
604. 38592830 c.5033A>G p.N1678S missense 0.00002471●●●●●●
605. 38592825 c.5038G>A p.A1680T missense 0.00002471●●●●●●
606. 38592821 c.5042A>T p.Y1681F missense 0.00000824●●●●●●
607. 38592798 c.5065G>A p.D1689N missense 0.00000824●●●●●●
608. 38592795 c.5068_5070delGAC p.Asp1690del inframe 0.00000824●●●●●●
609. 38592771 c.5092G>A p.A1698T missense 0.00000824●●●●●●
610. 38592760 c.5103G>T p.M1701I missense 0.00000824●●●●●●
611. 38592737 c.5126C>T p.T1709M missense 0.00000824●●●●●●
612. 38592734 c.5129C>T p.S1710L missense 0.00000824●●●●●●
613. 38592709 c.5154C>A p.S1718R missense 0.00000825●●●●●●
614. 38592678 c.5185G>A p.D1729N missense 0.00000826●●●●●●
615. 38592675 c.5188C>G p.P1730A missense 0.00000826●●●●●●
616. 38592674 c.5189C>T p.P1730L missense 0.00001652●●●●●●
617. 38592653 c.5210G>A p.G1737D missense 0.00001653●●●●●●
618. 38592651 c.5212T>A p.S1738T missense 0.00000826●●●●●●
619. 38592648 c.5215C>T p.R1739W missense 0.00003306●●●●●●
620. 38592647 c.5216G>A p.R1739Q missense 0.00000826●●●●●●
621. 38592642 c.5221G>A p.D1741N missense 0.00002479●●●●●●
622. 38592626 c.5237C>T p.A1746V missense 0.00004950●●●●●●
623. 38592624 c.5239G>A p.V1747M missense 0.00001650●●●●●●
624. 38592587 c.5276C>G p.S1759C missense 0.00000824●●●●●●
625. 38592566 c.5297T>C p.M1766T missense 0.00003299●●●●●●
626. 38592551 c.5312T>C p.I1771T missense 0.00000825●●●●●●
627. 38592534 c.5329G>A p.V1777M missense 0.00002478●●●●●●
628. 38592527 c.5336C>T p.T1779M missense 0.00003305●●●●●●
629. 38592503 c.5360G>A p.S1787N missense 0.00061197●●●●●●
630. 38592495 c.5368G>A p.D1790N missense 0.00001654●●●●●●
631. 38592489 c.5374G>A p.D1792N missense 0.00002482●●●●●●
632. 38592488 c.5375A>T p.D1792V missense 0.00000827●●●●●●
633. 38592474 c.5389A>G p.I1797V missense 0.00000828●●●●●●
634. 38592436 c.5427T>G p.I1809M missense 0.00000828●●●●●●
635. 38592428 c.5435C>T p.S1812L missense 0.00002484●●●●●●
636. 38592415 c.5448C>G p.D1816E missense 0.00000828●●●●●●
637. 38592408 c.5455G>A p.D1819N missense 0.00030631●●●●●●
638. 38592405 c.5458G>A p.A1820T missense 0.00001656●●●●●●
639. 38592396 c.5467G>A p.E1823K missense 0.00000828●●●●●●
640. 38592387 c.5476C>T p.R1826C missense 0.00002484●●●●●●
641. 38592386 c.5477G>A p.R1826H missense 0.00003312●●●●●●
642. 38592381 c.5482G>A p.A1828T missense 0.00002484●●●●●●
643. 38592369 c.5494C>G p.Q1832E missense 0.00007452●●●●●●
644. 38592356 c.5507T>C p.I1836T missense 0.00023184●●●●●●
645. 38592339 c.5524A>T p.M1842L missense 0.00000828●●●●●●
646. 38592339 c.5524A>G p.M1842V missense 0.00000828●●●●●●
647. 38592338 c.5525T>C p.M1842T missense 0.00000828●●●●●●
648. 38592324 c.5539C>T p.R1847C missense 0.00000828●●●●●●
649. 38592308 c.5555A>T p.D1852V missense 0.00000828●●●●●●
650. 38592246 c.5617A>G p.I1873V missense 0.00000828●●●●●●
651. 38592239 c.5624T>A p.M1875K missense 0.00000828●●●●●●
652. 38592212 c.5651C>T p.P1884L missense 0.00008280●●●●●●
653. 38592195 c.5668G>A p.E1890K missense 0.00002484●●●●●●
654. 38592179 c.5684C>T p.T1895I missense 0.00000828●●●●●●
655. 38592176 c.5687T>C p.L1896P missense 0.00001656●●●●●●
656. 38592176 c.5687_5688delTC p.Leu1896ProfsTer47 frameshift 0.00001656●●●●●●
657. 38592174 c.5689C>T p.R1897W missense 0.00009936●●●●●●
658. 38592173 c.5690G>A p.R1897Q missense 0.00001656●●●●●●
659. 38592171 c.5692C>T p.R1898C missense 0.00002484●●●●●●
660. 38592170 c.5693G>A p.R1898H missense 0.00006624●●●●●●
661. 38592162 c.5701G>A p.E1901K missense 0.00004140●●●●●●
662. 38592162 c.5701G>C p.E1901Q missense 0.00002484●●●●●●
663. 38592152 c.5711C>T p.S1904L missense 0.00019045●●●●●●
664. 38592146 c.5717T>C p.M1906T missense 0.00001656●●●●●●
665. 38592141 c.5722A>G p.I1908V missense 0.00000828●●●●●●
666. 38592125 c.5738G>A p.R1913H missense 0.00003312●●●●●●
667. 38592123 c.5740A>G p.R1914G missense 0.00000828●●●●●●
668. 38592120 c.5743C>T p.H1915Y missense 0.00000828●●●●●●
669. 38592120 c.5743C>A p.H1915N missense 0.00000828●●●●●●
670. 38592113 c.5750T>C p.L1917P missense 0.00000828●●●●●●
671. 38592108 c.5755C>T p.R1919C missense 0.00002485●●●●●●
672. 38592107 c.5756G>A p.R1919H missense 0.00000828●●●●●●
673. 38592104 c.5759C>G p.S1920C missense 0.00000828●●●●●●
674. 38592096 c.5767C>T p.H1923Y missense 0.00000829●●●●●●
675. 38592095 c.5768_5771dupATGC p.Ser1925CysfsTer20 frameshift 0.00005804●●●●●●
676. 38592093 c.5770G>A p.A1924T missense 0.00004144●●●●●●
677. 38592078 c.5785C>T p.R1929C missense 0.00001661●●●●●●
678. 38592077 c.5786G>A p.R1929H missense 0.00002492●●●●●●
679. 38592068 c.5795C>T p.A1932V missense 0.00006666●●●●●●
680. 38592065 c.5798G>A p.G1933D missense 0.00000834●●●●●●
681. 38592065 c.5798G>C p.G1933A missense 0.00000834●●●●●●
682. 38592065 c.5798G>T p.G1933V missense 0.00000834●●●●●●
683. 38592060 c.5803G>A p.G1935S missense 0.00001673●●●●●●
684. 38592054 c.5809T>G p.S1937A missense 0.00000838●●●●●●
685. 38592051 c.5812G>A p.E1938K missense 0.00000840●●●●●●
686. 38592051 c.5812G>T p.E1938X nonsense 0.00000840●●●●●●
687. 38592039 c.5824C>T p.P1942S missense 0.00000843●●●●●●
688. 38592032 c.5831G>A p.R1944Q missense 0.00001694●●●●●●
689. 38592021 c.5842A>G p.I1948V missense 0.00000853●●●●●●
690. 38592018 c.5845G>A p.A1949T missense 0.00001716●●●●●●
691. 38592012 c.5851G>T p.V1951L missense 0.00541198●●●●●●
692. 38592012 c.5851G>A p.V1951M missense 0.00008632●●●●●●
693. 38592004 c.5859_5862delTGAG p.Ser1953ArgfsTer84 frameshift 0.00000872●●●●●●
694. 38592003 c.5860G>A p.E1954K missense 0.00003480●●●●●●
695. 38591994 c.5869T>C p.S1957P missense 0.00000875●●●●●●
696. 38591991 c.5872C>T p.R1958X nonsense 0.00007039●●●●●●
697. 38591990 c.5873G>A p.R1958Q missense 0.00006181●●●●●●
698. 38591978 c.5885C>T p.P1962L missense 0.00015002●●●●●●
699. 38591975 c.5888C>T p.P1963L missense 0.00000882●●●●●●
700. 38591972 c.5891C>T p.S1964F missense 0.00003525●●●●●●
701. 38591970 c.5893A>G p.S1965G missense 0.00000883●●●●●●
702. 38591961 c.5902A>G p.I1968V missense 0.00000885●●●●●●
703. 38591960 c.5903T>G p.I1968S missense 0.00002652●●●●●●
704. 38591960 c.5903T>A p.I1968N missense 0.00000884●●●●●●
705. 38591959 c.5904C>G p.I1968M missense 0.00002650●●●●●●
706. 38591957 c.5906C>T p.S1969F missense 0.00000884●●●●●●
707. 38591946 c.5917T>C p.F1973L missense 0.00001774●●●●●●
708. 38591925 c.5938G>T p.V1980F missense 0.00002687●●●●●●
709. 38591918 c.5945G>C p.R1982T missense 0.00000898●●●●●●
710. 38591915 c.5948C>T p.A1983V missense 0.00000899●●●●●●
711. 38591912 c.5951C>T p.T1984I missense 0.00003603●●●●●●
712. 38591907 c.5956G>A p.D1986N missense 0.00000904●●●●●●
713. 38591902 c.5961C>A p.N1987K missense 0.00000905●●●●●●
714. 38591900 c.5963T>G p.L1988R missense 0.00030799●●●●●●
715. 38591895 c.5968G>C p.V1990L missense 0.00000907●●●●●●
716. 38591895 c.5968G>A p.V1990M missense 0.00000907●●●●●●
717. 38591892 c.5971C>T p.R1991W missense 0.00002724●●●●●●
718. 38591888 c.5975G>C p.G1992A missense 0.00000909●●●●●●
719. 38591873 c.5990A>G p.H1997R missense 0.00000912●●●●●●
720. 38591865 c.5998G>T p.D2000Y missense 0.00001827●●●●●●
721. 38591859 c.6004G>T p.A2002S missense 0.00000916●●●●●●
722. 38591856 c.6007G>A p.D2003N missense 0.00003667●●●●●●
723. 38591853 c.6010T>C p.F2004L missense 0.00201768●●●●●●
724. 38591853 c.6010T>G p.F2004V missense 0.00002751●●●●●●
725. 38591853 c.6010T>A p.F2004I missense 0.00001834●●●●●●
726. 38591851 c.6012C>G p.F2004L missense 0.00000918●●●●●●
727. 38591850 c.6013C>T p.P2005S missense 0.00000918●●●●●●
728. 38591849 c.6014C>T p.P2005L missense 0.00000918●●●●●●
729. 38591847 c.6016C>G p.P2006A missense 0.00134075●●●●●●
730. 38591840 c.6023C>T p.P2008L missense 0.00001841●●●●●●
731. 38591836 c.6027C>G p.D2009E missense 0.00000921●●●●●●
732. 38591835 c.6028A>G p.R2010G missense 0.00002763●●●●●●
733. 38591829 c.6034C>T p.R2012C missense 0.00001844●●●●●●
734. 38591828 c.6035G>A p.R2012H missense 0.00004612●●●●●●
735. 38591817 c.6046G>A p.V2016M missense 0.00003697●●●●●●
736. 38591813 c.6050G>A nonsense 0.00001850●●●●●●

* 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.