JAG1 variants in ExAC

JAG1 gene summary
JAG1 variants in

The table below lists the JAG1 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. 10622501 c.2612C>G p.P871R missense 0.06617829●●●●●●
2. 10644614 c.436G>A p.V146I missense 0.00393766●●●●●●
3. 10622214 c.2810G>A p.R937Q missense 0.00217169●●●●●●
4. 10629327 c.1439C>T p.A480V missense 0.00145869●●●●●●
5. 10629766 c.1349-11T>G splice site 0.00142652●●●●●●
6. 10644666 c.388-4G>C splice site 0.00093920●●●●●●
7. 10625624 c.2231G>A p.R744Q missense 0.00086485●●●●●●
8. 10653603 c.133G>T p.V45L missense 0.00055312●●●●●●
9. 10620507 c.3296C>T p.P1099L missense 0.00038856●●●●●●
10. 10644601 c.439+10G>A splice site 0.00037072●●●●●●
11. 10632219 c.1120+10A>G splice site 0.00036073●●●●●●
12. 10625526 c.2329C>T p.P777S missense 0.00031305●●●●●●
13. 10639284 c.526G>A p.V176I missense 0.00031301●●●●●●
14. 10628673 c.1655C>T p.P552L missense 0.00023896●●●●●●
15. 10632306 c.1043G>A p.R348K missense 0.00022930●●●●●●
16. 10620522 c.3281G>A p.R1094Q missense 0.00019007●●●●●●
17. 10633188 c.814G>A p.V272I missense 0.00018969●●●●●●
18. 10623211 c.2497G>A p.A833T missense 0.00017349●●●●●●
19. 10628700 c.1628G>A p.R543H missense 0.00014004●●●●●●
20. 10653654 c.82G>C p.V28L missense 0.00013615●●●●●●
21. 10621771 c.3038A>T p.H1013L missense 0.00013190●●●●●●
22. 10622140 c.2884A>G p.T962A missense 0.00012391●●●●●●
23. 10627607 c.1865C>T p.T622M missense 0.00012355●●●●●●
24. 10632334 c.1015G>T p.A339S missense 0.00012206●●●●●●
25. 10621462 c.3168A>C p.R1056S missense 0.00011531●●●●●●
26. 10621899 c.2917-7G>A splice site 0.00010757●●●●●●
27. 10620523 c.3280C>T p.R1094W missense 0.00010745●●●●●●
28. 10622284 c.2740G>A p.G914R missense 0.00010725●●●●●●
29. 10622517 c.2596A>G p.M866V missense 0.00010717●●●●●●
30. 10620474 c.3329A>C p.N1110T missense 0.00010712●●●●●●
31. 10632234 c.1115C>T p.S372F missense 0.00010232●●●●●●
32. 10622523 c.2590A>G p.I864V missense 0.00009895●●●●●●
33. 10622447 c.2666G>A p.R889Q missense 0.00009885●●●●●●
34. 10630934 c.1195G>A p.V399M missense 0.00009294●●●●●●
35. 10621808 c.3001G>A p.A1001T missense 0.00009067●●●●●●
36. 10621452 c.3178C>T p.R1060W missense 0.00008237●●●●●●
37. 10620412 c.3391G>A p.A1131T missense 0.00007413●●●●●●
38. 10629762 c.1349-7T>A splice site 0.00006930●●●●●●
39. 10627646 c.1826C>T p.S609L missense 0.00006589●●●●●●
40. 10625830 c.2188A>G p.M730V missense 0.00006589●●●●●●
41. 10623196 c.2512G>A p.E838K missense 0.00005780●●●●●●
42. 10629351 c.1415G>A p.R472H missense 0.00005773●●●●●●
43. 10621802 c.3007G>A p.E1003K missense 0.00005770●●●●●●
44. 10620243 c.3560A>G p.N1187S missense 0.00005766●●●●●●
45. 10620336 c.3467T>C p.V1156A missense 0.00005766●●●●●●
46. 10620165 c.3638G>A p.R1213Q missense 0.00005766●●●●●●
47. 10627680 c.1792G>A p.V598I missense 0.00005766●●●●●●
48. 10630167 c.1348+3G>A splice site 0.00005155●●●●●●
49. 10630248 c.1270G>A p.A424T missense 0.00005020●●●●●●
50. 10632871 c.914C>T p.P305L missense 0.00004967●●●●●●
51. 10629710 c.1394G>A p.R465Q missense 0.00004963●●●●●●
52. 10623210 c.2498C>T p.A833V missense 0.00004957●●●●●●
53. 10628622 c.1706C>T p.T569M missense 0.00004952●●●●●●
54. 10621792 c.3017C>T p.P1006L missense 0.00004946●●●●●●
55. 10620325 c.3478G>A p.D1160N missense 0.00004942●●●●●●
56. 10625997 c.2113+7G>A splice site 0.00004942●●●●●●
57. 10620151 c.3652G>A p.V1218I missense 0.00004942●●●●●●
58. 10620405 c.3398C>T p.T1133M missense 0.00004942●●●●●●
59. 10620514 c.3289C>T p.R1097W missense 0.00004134●●●●●●
60. 10623181 c.2527C>T p.R843W missense 0.00004130●●●●●●
61. 10626740 c.1886-8T>G splice site 0.00004127●●●●●●
62. 10632860 c.925G>C p.G309R missense 0.00004126●●●●●●
63. 10622257 c.2767G>A p.D923N missense 0.00004125●●●●●●
64. 10626731 c.1887T>C splice site 0.00004122●●●●●●
65. 10621565 c.3065G>A p.R1022Q missense 0.00004119●●●●●●
66. 10628701 c.1627C>T p.R543C missense 0.00004119●●●●●●
67. 10629255 c.1511A>G p.N504S missense 0.00004119●●●●●●
68. 10644673 c.388-11_388-8delTTGT splice site 0.00004119●●●●●●
69. 10620418 c.3385C>A p.H1129N missense 0.00004118●●●●●●
70. 10625555 c.2300C>T p.T767M missense 0.00004118●●●●●●
71. 10629764 c.1349-9_1349-6delATTT splice site 0.00003456●●●●●●
72. 10629758 c.1349-3dupT splice site 0.00003437●●●●●●
73. 10625027 c.2350A>G p.N784D missense 0.00003393●●●●●●
74. 10629737 c.1367G>A p.G456D missense 0.00003325●●●●●●
75. 10630189 c.1329G>A p.M443I missense 0.00003323●●●●●●
76. 10621882 c.2927C>T p.T976M missense 0.00003304●●●●●●
77. 10622214 c.2810G>T p.R937L missense 0.00003303●●●●●●
78. 10620460 c.3343G>A p.V1115M missense 0.00003296●●●●●●
79. 10639289 c.521C>T p.T174M missense 0.00003295●●●●●●
80. 10620282 c.3521C>T p.P1174L missense 0.00003295●●●●●●
81. 10621476 c.3154G>A p.V1052I missense 0.00003295●●●●●●
82. 10630924 c.1205C>G p.P402R missense 0.00002548●●●●●●
83. 10632247 c.1102G>A p.G368S missense 0.00002531●●●●●●
84. 10630249 c.1269C>A p.N423K missense 0.00002516●●●●●●
85. 10653488 c.248A>G p.Q83R missense 0.00002505●●●●●●
86. 10622167 c.2857T>C p.Y953H missense 0.00002478●●●●●●
87. 10621811 c.2998A>G p.I1000V missense 0.00002473●●●●●●
88. 10620457 c.3346C>T p.R1116W missense 0.00002472●●●●●●
89. 10629291 c.1475C>T p.A492V missense 0.00002472●●●●●●
90. 10625550 c.2305G>A p.V769I missense 0.00002471●●●●●●
91. 10625543 c.2312A>G p.K771R missense 0.00002471●●●●●●
92. 10628719 c.1609G>A p.G537S missense 0.00002471●●●●●●
93. 10627637 c.1835A>G p.K612R missense 0.00002471●●●●●●
94. 10621532 c.3098A>G p.D1033G missense 0.00002471●●●●●●
95. 10626697 c.1921G>A p.G641S missense 0.00002471●●●●●●
96. 10620601 c.3202T>C p.F1068L missense 0.00001779●●●●●●
97. 10630906 c.1223C>T p.T408M missense 0.00001737●●●●●●
98. 10630978 c.1151C>A p.S384Y missense 0.00001724●●●●●●
99. 10630934 c.1195G>T p.V399L missense 0.00001690●●●●●●
100. 10630948 c.1181A>G p.N394S missense 0.00001688●●●●●●
101. 10623130 c.2572+6T>C splice site 0.00001686●●●●●●
102. 10653564 c.172G>C p.A58P missense 0.00001677●●●●●●
103. 10653608 c.128A>G p.Q43R missense 0.00001677●●●●●●
104. 10630209 c.1309G>A p.D437N missense 0.00001657●●●●●●
105. 10637104 c.697A>G p.I233V missense 0.00001656●●●●●●
106. 10628603 c.1720+5C>T splice site 0.00001654●●●●●●
107. 10620517 c.3286C>T p.R1096W missense 0.00001653●●●●●●
108. 10639113 c.694+3A>G splice site 0.00001653●●●●●●
109. 10622113 c.2911T>C p.S971P missense 0.00001653●●●●●●
110. 10622221 c.2803G>A p.E935K missense 0.00001651●●●●●●
111. 10622245 c.2779G>A p.V927I missense 0.00001651●●●●●●
112. 10620501 c.3302G>A p.S1101N missense 0.00001651●●●●●●
113. 10628626 c.1702C>T p.R568C missense 0.00001650●●●●●●
114. 10622532 c.2581A>G p.R861G missense 0.00001650●●●●●●
115. 10622534 c.2579G>C p.G860A missense 0.00001650●●●●●●
116. 10622296 c.2728G>A p.E910K missense 0.00001650●●●●●●
117. 10620496 c.3307A>G p.T1103A missense 0.00001649●●●●●●
118. 10622509 c.2604T>A p.S868R missense 0.00001649●●●●●●
119. 10629319 c.1447C>A p.H483N missense 0.00001648●●●●●●
120. 10629205 c.1561C>G p.L521V missense 0.00001648●●●●●●
121. 10625504 c.2344+7G>A splice site 0.00001648●●●●●●
122. 10629242 c.1524A>T p.R508S missense 0.00001648●●●●●●
123. 10639304 c.506C>T p.T169M missense 0.00001648●●●●●●
124. 10620474 c.3329A>G p.N1110S missense 0.00001648●●●●●●
125. 10644666 c.388-4G>T splice site 0.00001648●●●●●●
126. 10629309 c.1457G>A p.R486K missense 0.00001648●●●●●●
127. 10622448 c.2665C>T p.R889W missense 0.00001648●●●●●●
128. 10620273 c.3530C>T p.T1177M missense 0.00001647●●●●●●
129. 10620385 c.3418G>A p.E1140K missense 0.00001647●●●●●●
130. 10625594 c.2261A>G p.H754R missense 0.00001647●●●●●●
131. 10625818 c.2200G>A p.G734S missense 0.00001647●●●●●●
132. 10625829 c.2189T>C p.M730T missense 0.00001647●●●●●●
133. 10621490 c.3140C>T p.S1047L missense 0.00001647●●●●●●
134. 10620226 c.3577C>T p.H1193Y missense 0.00001647●●●●●●
135. 10621521 c.3109G>A p.D1037N missense 0.00001647●●●●●●
136. 10625786 c.2227+5C>G splice site 0.00001647●●●●●●
137. 10639316 c.494G>A p.R165Q missense 0.00001647●●●●●●
138. 10620288 c.3515A>G p.K1172R missense 0.00001647●●●●●●
139. 10639337 c.473C>T p.S158L missense 0.00001647●●●●●●
140. 10632350 c.1007-8T>G splice site 0.00001008●●●●●●
141. 10631014 c.1121-6G>A splice site 0.00000995●●●●●●
142. 10620609 c.3200-6T>G splice site 0.00000925●●●●●●
143. 10630276 c.1242T>A p.N414K missense 0.00000890●●●●●●
144. 10624518 c.2373-7T>A splice site 0.00000876●●●●●●
145. 10632319 c.1030C>T p.P344S missense 0.00000871●●●●●●
146. 10620594 c.3209T>C p.V1070A missense 0.00000867●●●●●●
147. 10653349 c.387G>A splice site 0.00000864●●●●●●
148. 10630976 c.1153C>T p.H385Y missense 0.00000860●●●●●●
149. 10632230 c.1119A>C splice site 0.00000858●●●●●●
150. 10630970 c.1159G>A p.G387S missense 0.00000854●●●●●●
151. 10625031 c.2346T>C splice site 0.00000851●●●●●●
152. 10653380 c.356G>T p.R119L missense 0.00000851●●●●●●
153. 10653384 c.352A>C p.N118H missense 0.00000850●●●●●●
154. 10653386 c.350G>T p.R117L missense 0.00000849●●●●●●
155. 10653387 c.349C>G p.R117G missense 0.00000849●●●●●●
156. 10630924 c.1205C>T p.P402L missense 0.00000849●●●●●●
157. 10625020 c.2357G>T p.C786F missense 0.00000846●●●●●●
158. 10625017 c.2360G>A p.S787N missense 0.00000845●●●●●●
159. 10653405 c.331G>A p.A111T missense 0.00000845●●●●●●
160. 10629749 c.1355A>G p.N452S missense 0.00000845●●●●●●
161. 10653404 c.332C>T p.A111V missense 0.00000845●●●●●●
162. 10624998 c.2372+7G>C splice site 0.00000844●●●●●●
163. 10653419 c.317C>T p.T106I missense 0.00000842●●●●●●
164. 10653429 c.307G>C p.G103R missense 0.00000841●●●●●●
165. 10623132 c.2572+4T>C splice site 0.00000841●●●●●●
166. 10620576 c.3227T>C p.V1076A missense 0.00000840●●●●●●
167. 10632289 c.1060A>T p.T354S missense 0.00000840●●●●●●
168. 10653609 c.127C>G p.Q43E missense 0.00000839●●●●●●
169. 10653603 c.133G>A p.V45M missense 0.00000838●●●●●●
170. 10624488 c.2396A>T p.D799V missense 0.00000838●●●●●●
171. 10653564 c.172G>T p.A58S missense 0.00000838●●●●●●
172. 10653552 c.184G>A p.G62R missense 0.00000837●●●●●●
173. 10653554 c.182C>T p.P61L missense 0.00000837●●●●●●
174. 10632273 c.1076A>G p.E359G missense 0.00000837●●●●●●
175. 10653556 c.180C>G p.N60K missense 0.00000837●●●●●●
176. 10653471 c.265G>C p.G89R missense 0.00000837●●●●●●
177. 10653539 c.197G>A p.C66Y missense 0.00000836●●●●●●
178. 10653476 c.260C>T p.T87M missense 0.00000836●●●●●●
179. 10653541 c.195G>T p.K65N missense 0.00000836●●●●●●
180. 10624438 c.2446G>A p.D816N missense 0.00000835●●●●●●
181. 10653530 c.206A>G p.D69G missense 0.00000835●●●●●●
182. 10653491 c.245A>G p.Y82C missense 0.00000835●●●●●●
183. 10630244 c.1274A>G p.K425R missense 0.00000834●●●●●●
184. 10620570 c.3233C>G p.T1078S missense 0.00000834●●●●●●
185. 10624470 c.2414G>A p.R805Q missense 0.00000833●●●●●●
186. 10624455 c.2429C>T p.P810L missense 0.00000832●●●●●●
187. 10624465 c.2419G>A p.E807K missense 0.00000832●●●●●●
188. 10629378 c.1396-8T>C splice site 0.00000831●●●●●●
189. 10629379 c.1396-9_1396-7delCTC splice site 0.00000830●●●●●●
190. 10620546 c.3257T>C p.V1086A missense 0.00000829●●●●●●
191. 10620543 c.3260C>T p.T1087M missense 0.00000829●●●●●●
192. 10630214 c.1304A>G p.Y435C missense 0.00000828●●●●●●
193. 10630214 c.1304A>C p.Y435S missense 0.00000828●●●●●●
194. 10629727 c.1377G>C p.Q459H missense 0.00000828●●●●●●
195. 10632866 c.919C>T p.L307F missense 0.00000827●●●●●●
196. 10621889 c.2920C>G p.L974V missense 0.00000827●●●●●●
197. 10629716 c.1388C>T p.S463F missense 0.00000827●●●●●●
198. 10629702 c.1395+7A>G splice site 0.00000827●●●●●●
199. 10621899 c.2917-7G>C splice site 0.00000827●●●●●●
200. 10620516 c.3287_3295delGGCGGAAGC p.Arg1096_Lys1098del inframe 0.00000827●●●●●●
201. 10629719 c.1385C>A p.A462D missense 0.00000827●●●●●●
202. 10637083 c.718C>A p.P240T missense 0.00000827●●●●●●
203. 10620517 c.3286_3287insGGCGGAAGC p.Arg1096_Lys1098dup inframe 0.00000827●●●●●●
204. 10626741 c.1886-9G>A splice site 0.00000827●●●●●●
205. 10637094 c.707A>G p.Q236R missense 0.00000827●●●●●●
206. 10629720 c.1384G>A p.A462T missense 0.00000827●●●●●●
207. 10639110 c.694+6T>C splice site 0.00000826●●●●●●
208. 10639121 c.689A>G p.N230S missense 0.00000826●●●●●●
209. 10622139 c.2885C>A p.T962K missense 0.00000826●●●●●●
210. 10622197 c.2827C>T p.P943S missense 0.00000826●●●●●●
211. 10622182 c.2842T>C p.C948R missense 0.00000826●●●●●●
212. 10623180 c.2528G>A p.R843Q missense 0.00000826●●●●●●
213. 10622158 c.2866G>C p.D956H missense 0.00000826●●●●●●
214. 10622229 c.2795G>T p.G932V missense 0.00000826●●●●●●
215. 10622148 c.2876C>T p.A959V missense 0.00000826●●●●●●
216. 10620519 c.3284A>G p.K1095R missense 0.00000826●●●●●●
217. 10622187 c.2837C>T p.T946I missense 0.00000826●●●●●●
218. 10622205 c.2819G>A p.S940N missense 0.00000826●●●●●●
219. 10622172 c.2852A>G p.D951G missense 0.00000826●●●●●●
220. 10622160 c.2864A>G p.Q955R missense 0.00000826●●●●●●
221. 10622196 c.2828C>T p.P943L missense 0.00000826●●●●●●
222. 10622117 c.2907G>A p.M969I missense 0.00000826●●●●●●
223. 10622232 c.2792C>T p.T931I missense 0.00000826●●●●●●
224. 10626121 c.2000-4C>G splice site 0.00000825●●●●●●
225. 10622302 c.2722C>T p.H908Y missense 0.00000825●●●●●●
226. 10622252 c.2772G>T p.Q924H missense 0.00000825●●●●●●
227. 10621829 c.2980G>A p.A994T missense 0.00000825●●●●●●
228. 10622534 c.2579G>A p.G860E missense 0.00000825●●●●●●
229. 10622323 c.2701C>A p.P901T missense 0.00000825●●●●●●
230. 10622325 c.2699G>A p.R900Q missense 0.00000825●●●●●●
231. 10622520 c.2593A>G p.T865A missense 0.00000825●●●●●●
232. 10622550 c.2573-10C>T splice site 0.00000825●●●●●●
233. 10633187 c.815T>C p.V272A missense 0.00000825●●●●●●
234. 10622311 c.2713C>T p.H905Y missense 0.00000825●●●●●●
235. 10621848 c.2961T>A p.N987K missense 0.00000825●●●●●●
236. 10622255 c.2769C>G p.D923E missense 0.00000825●●●●●●
237. 10622528 c.2585C>A p.P862H missense 0.00000825●●●●●●
238. 10622272 c.2752A>T p.I918F missense 0.00000825●●●●●●
239. 10626736 c.1886-4A>G splice site 0.00000825●●●●●●
240. 10639145 c.665A>G p.E222G missense 0.00000825●●●●●●
241. 10621855 c.2954A>C p.N985T missense 0.00000825●●●●●●
242. 10633109 c.886+7C>A splice site 0.00000825●●●●●●
243. 10632860 c.925G>A p.G309R missense 0.00000825●●●●●●
244. 10626735 c.1886-3T>C splice site 0.00000825●●●●●●
245. 10629357 c.1409G>A p.G470D missense 0.00000825●●●●●●
246. 10620298 c.3505C>G p.R1169G missense 0.00000824●●●●●●
247. 10633172 c.830A>G p.N277S missense 0.00000824●●●●●●
248. 10627638 c.1834A>G p.K612E missense 0.00000824●●●●●●
249. 10620495 c.3308C>T p.T1103I missense 0.00000824●●●●●●
250. 10625509 c.2344+2T>G essential splice site 0.00000824●●●●●●
251. 10626666 c.1952A>T p.Y651F missense 0.00000824●●●●●●
252. 10625884 c.2134G>C p.A712P missense 0.00000824●●●●●●
253. 10629301 c.1465G>A p.D489N missense 0.00000824●●●●●●
254. 10625911 c.2114-7C>T splice site 0.00000824●●●●●●
255. 10620214 c.3589A>G p.T1197A missense 0.00000824●●●●●●
256. 10629239 c.1527C>A p.F509L missense 0.00000824●●●●●●
257. 10621556 c.3074G>A p.G1025E missense 0.00000824●●●●●●
258. 10639294 c.516G>C p.Q172H missense 0.00000824●●●●●●
259. 10628666 c.1662C>A p.D554E missense 0.00000824●●●●●●
260. 10627716 c.1756G>A p.D586N missense 0.00000824●●●●●●
261. 10622462 c.2651A>G p.Q884R missense 0.00000824●●●●●●
262. 10626703 c.1915A>G p.R639G missense 0.00000824●●●●●●
263. 10620442 c.3361C>A p.Q1121K missense 0.00000824●●●●●●
264. 10620417 c.3386A>G p.H1129R missense 0.00000824●●●●●●
265. 10620280 c.3523G>A p.A1175T missense 0.00000824●●●●●●
266. 10627668 c.1804C>A p.H602N missense 0.00000824●●●●●●
267. 10620319 c.3484G>A p.D1162N missense 0.00000824●●●●●●
268. 10621518 c.3112C>G p.L1038V missense 0.00000824●●●●●●
269. 10625512 c.2343G>C p.Q781H missense 0.00000824●●●●●●
270. 10621768 c.3041T>C p.V1014A missense 0.00000824●●●●●●
271. 10620166 c.3637C>G p.R1213G missense 0.00000824●●●●●●
272. 10644617 c.433A>G p.T145A missense 0.00000824●●●●●●
273. 10621533 c.3097G>A p.D1033N missense 0.00000824●●●●●●
274. 10622502 c.2611C>A p.P871T missense 0.00000824●●●●●●
275. 10621515 c.3115G>A p.V1039I missense 0.00000824●●●●●●
276. 10644652 c.398C>T p.T133M missense 0.00000824●●●●●●
277. 10625633 c.2228-6T>C splice site 0.00000824●●●●●●
278. 10627670 c.1802C>T p.P601L missense 0.00000824●●●●●●
279. 10629333 c.1433G>C p.G478A missense 0.00000824●●●●●●
280. 10627649 c.1823A>G p.Q608R missense 0.00000824●●●●●●
281. 10626672 c.1946A>G p.N649S missense 0.00000824●●●●●●
282. 10626634 c.1984G>A p.A662T missense 0.00000824●●●●●●
283. 10620393 c.3410A>G p.K1137R missense 0.00000824●●●●●●
284. 10625606 c.2249C>T p.P750L missense 0.00000824●●●●●●
285. 10625568 c.2287G>A p.G763S missense 0.00000824●●●●●●
286. 10620247 c.3556C>T p.P1186S missense 0.00000824●●●●●●
287. 10626115 c.2002A>T p.I668F missense 0.00000824●●●●●●
288. 10621569 c.3061A>G p.I1021V missense 0.00000824●●●●●●
289. 10644673 c.388-11_388-8delTTGTinsTTG splice site 0.00000824●●●●●●
290. 10629322 c.1444G>A p.D482N missense 0.00000824●●●●●●
291. 10627707 c.1765G>A p.E589K missense 0.00000824●●●●●●
292. 10622498 c.2615A>G p.D872G missense 0.00000824●●●●●●
293. 10628756 c.1572G>A splice site 0.00000824●●●●●●
294. 10628671 c.1657G>A p.E553K missense 0.00000824●●●●●●
295. 10622475 c.2638T>C p.C880R missense 0.00000824●●●●●●
296. 10621451 c.3179G>A p.R1060Q missense 0.00000824●●●●●●
297. 10627613 c.1859G>C p.G620A missense 0.00000824●●●●●●
298. 10626724 c.1894G>A p.D632N missense 0.00000824●●●●●●
299. 10625871 c.2147A>G p.N716S missense 0.00000824●●●●●●
300. 10620209 c.3594C>G p.N1198K missense 0.00000824●●●●●●
301. 10622461 c.2652G>T p.Q884H missense 0.00000824●●●●●●
302. 10625522 c.2333T>C p.I778T missense 0.00000824●●●●●●
303. 10621802 c.3007G>C p.E1003Q missense 0.00000824●●●●●●
304. 10632772 c.1006+7G>T splice site 0.00000824●●●●●●
305. 10644653 c.397A>G p.T133A missense 0.00000824●●●●●●
306. 10644644 c.406G>A p.V136M missense 0.00000824●●●●●●
307. 10629210 c.1556G>C p.G519A missense 0.00000824●●●●●●
308. 10621547 c.3083T>C p.I1028T missense 0.00000824●●●●●●
309. 10622448 c.2665C>G p.R889G missense 0.00000824●●●●●●
310. 10622423 c.2682+8A>G splice site 0.00000824●●●●●●
311. 10627698 c.1774C>T p.R592W missense 0.00000824●●●●●●
312. 10621426 c.3199+5G>T splice site 0.00000824●●●●●●
313. 10626682 c.1936G>A p.D646N missense 0.00000824●●●●●●
314. 10625820 c.2198G>C p.G733A missense 0.00000824●●●●●●
315. 10625588 c.2267G>C p.G756A missense 0.00000824●●●●●●
316. 10620261 c.3542G>A p.R1181K missense 0.00000824●●●●●●
317. 10626714 c.1904G>A p.S635N missense 0.00000824●●●●●●
318. 10629324 c.1442G>A p.G481D missense 0.00000824●●●●●●
319. 10621580 c.3050C>T p.S1017F missense 0.00000824●●●●●●
320. 10644671 c.388-9G>A splice site 0.00000824●●●●●●
321. 10628643 c.1685A>G p.H562R missense 0.00000824●●●●●●
322. 10622481 c.2632G>A p.D878N missense 0.00000824●●●●●●
323. 10620471 c.3332C>T p.T1111I missense 0.00000824●●●●●●
324. 10620300 c.3503C>G p.A1168G missense 0.00000824●●●●●●
325. 10633142 c.860A>G p.N287S missense 0.00000824●●●●●●
326. 10627599 c.1873T>C p.Y625H missense 0.00000824●●●●●●
327. 10620490 c.3313T>A p.S1105T missense 0.00000824●●●●●●
328. 10620186 c.3617A>G p.E1206G missense 0.00000824●●●●●●
329. 10626640 c.1978G>A p.E660K missense 0.00000824●●●●●●
330. 10625880 c.2138C>T p.T713M missense 0.00000824●●●●●●
331. 10620349 c.3454C>T p.H1152Y missense 0.00000824●●●●●●
332. 10625862 c.2156C>T p.T719I missense 0.00000824●●●●●●
333. 10625523 c.2332A>C p.I778L missense 0.00000824●●●●●●
334. 10620240 c.3563G>C p.G1188A missense 0.00000824●●●●●●
335. 10620213 c.3590C>A p.T1197K missense 0.00000824●●●●●●
336. 10621500 c.3130G>A p.G1044R missense 0.00000824●●●●●●
337. 10644650 c.400T>A p.L134M missense 0.00000824●●●●●●
338. 10629219 c.1547G>A p.G516D missense 0.00000824●●●●●●
339. 10621550 c.3080C>T p.P1027L missense 0.00000824●●●●●●
340. 10627703 c.1769G>A p.G590E missense 0.00000824●●●●●●
341. 10639283 c.527T>C p.V176A missense 0.00000824●●●●●●
342. 10620418 c.3385C>G p.H1129D missense 0.00000824●●●●●●
343. 10620416 c.3387T>G p.H1129Q missense 0.00000824●●●●●●
344. 10632854 c.931A>G p.T311A missense 0.00000824●●●●●●
345. 10622424 c.2682+7C>G splice site 0.00000824●●●●●●
346. 10621757 c.3048+4A>C splice site 0.00000824●●●●●●
347. 10620277 c.3526T>A p.Y1176N missense 0.00000824●●●●●●
348. 10625824 c.2194C>T p.P732S missense 0.00000824●●●●●●
349. 10621581 c.3049T>G p.S1017A missense 0.00000824●●●●●●
350. 10620154 c.3649A>C p.I1217L missense 0.00000824●●●●●●
351. 10622493 c.2620G>A p.A874T missense 0.00000824●●●●●●
352. 10621481 c.3149C>T p.A1050V missense 0.00000824●●●●●●
353. 10628720 c.1608C>G p.N536K 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.