NEBL missense variants in ExAC

NEBL gene summary
NEBL variants in

The table below lists the NEBL missense 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. 21134282 c.1132G>C p.D378H missense 0.06519464●●●●●●
2. 21139389 c.1051A>G p.M351V missense 0.06504179●●●●●●
3. 21112137 c.1962T>A p.N654K missense 0.06059353●●●●●●
4. 21157621 c.656C>A p.A219D missense 0.01790895●●●●●●
5. 21104613 c.2182A>G p.T728A missense 0.01638166●●●●●●
6. 21178852 c.180G>C p.K60N missense 0.00385594●●●●●●
7. 21106620 c.2057T>C p.V686A missense 0.00296858●●●●●●
8. 21178841 c.191A>G p.K64R missense 0.00244152●●●●●●
9. 21097546 c.2654C>T p.S885F missense 0.00220672●●●●●●
10. 21157673 c.604G>A p.G202R missense 0.00212840●●●●●●
11. 21186124 c.11C>T p.P4L missense 0.00169092●●●●●●
12. 21115384 c.1861A>G p.I621V missense 0.00149313●●●●●●
13. 21101734 c.2482A>G p.I828V missense 0.00108902●●●●●●
14. 21139332 c.1108C>A p.Q370K missense 0.00103861●●●●●●
15. 21112145 c.1954A>C p.I652L missense 0.00045134●●●●●●
16. 21124545 c.1346A>G p.Y449C missense 0.00035439●●●●●●
17. 21141488 c.994G>A p.V332I missense 0.00033018●●●●●●
18. 21129704 c.1302C>G p.I434M missense 0.00032874●●●●●●
19. 21108354 c.2054C>T p.A685V missense 0.00030480●●●●●●
20. 21115407 c.1838G>A p.R613Q missense 0.00026403●●●●●●
21. 21117460 c.1775C>A p.A592E missense 0.00025666●●●●●●
22. 21124452 c.1439T>C p.I480T missense 0.00025539●●●●●●
23. 21177028 c.367G>A p.E123K missense 0.00023122●●●●●●
24. 21106597 c.2080C>T p.R694W missense 0.00019779●●●●●●
25. 21178827 c.205A>G p.T69A missense 0.00018966●●●●●●
26. 21102870 c.2344A>G p.M782V missense 0.00018194●●●●●●
27. 21169830 c.373G>A p.A125T missense 0.00018151●●●●●●
28. 21169820 c.383A>T p.Q128L missense 0.00017312●●●●●●
29. 21158690 c.561G>C p.Q187H missense 0.00014848●●●●●●
30. 21158728 c.523G>A p.A175T missense 0.00014020●●●●●●
31. 21141574 c.908A>G p.E303G missense 0.00013831●●●●●●
32. 21120144 c.1652C>T p.T551I missense 0.00013232●●●●●●
33. 21101731 c.2485G>A p.V829M missense 0.00012375●●●●●●
34. 21108396 c.2012C>T p.P671L missense 0.00012356●●●●●●
35. 21134209 c.1205A>C p.Y402S missense 0.00011603●●●●●●
36. 21186112 c.23A>G p.D8G missense 0.00011067●●●●●●
37. 21076151 c.2848A>G p.M950V missense 0.00011043●●●●●●
38. 21097550 c.2650C>T p.H884Y missense 0.00010746●●●●●●
39. 21097453 c.2747C>T p.P916L missense 0.00010725●●●●●●
40. 21141578 c.904C>G p.R302G missense 0.00010420●●●●●●
41. 21104555 c.2240C>T p.S747L missense 0.00008259●●●●●●
42. 21101821 c.2395C>T p.P799S missense 0.00008256●●●●●●
43. 21101799 c.2417C>T p.T806I missense 0.00008249●●●●●●
44. 21177085 c.310C>T p.R104W missense 0.00008248●●●●●●
45. 21157595 c.682C>G p.Q228E missense 0.00008244●●●●●●
46. 21108375 c.2033G>A p.R678Q missense 0.00008238●●●●●●
47. 21186119 c.16T>C p.F6L missense 0.00008225●●●●●●
48. 21120129 c.1667G>C p.S556T missense 0.00007446●●●●●●
49. 21120199 c.1597G>A p.G533R missense 0.00007438●●●●●●
50. 21112229 c.1870G>C p.V624L missense 0.00006758●●●●●●
51. 21147244 c.828G>A p.M276I missense 0.00006615●●●●●●
52. 21101818 c.2398G>A p.V800I missense 0.00006603●●●●●●
53. 21178791 c.241G>A p.G81S missense 0.00006601●●●●●●
54. 21115411 c.1834G>A p.E612K missense 0.00006600●●●●●●
55. 21134189 c.1225G>A p.E409K missense 0.00005828●●●●●●
56. 21148700 c.740A>G p.N247S missense 0.00005818●●●●●●
57. 21098789 c.2557G>A p.D853N missense 0.00005784●●●●●●
58. 21178818 c.214C>A p.P72T missense 0.00005772●●●●●●
59. 21106576 c.2101C>A p.P701T missense 0.00005768●●●●●●
60. 21108430 c.1978C>A p.Q660K missense 0.00005767●●●●●●
61. 21169748 c.455T>C p.M152T missense 0.00005767●●●●●●
62. 21186079 c.56G>A p.G19E missense 0.00005489●●●●●●
63. 21147245 c.827T>C p.M276T missense 0.00004963●●●●●●
64. 21177084 c.311G>A p.R104Q missense 0.00004949●●●●●●
65. 21158736 c.515C>T p.T172M missense 0.00004949●●●●●●
66. 21177069 c.326T>C p.I109T missense 0.00004948●●●●●●
67. 21117460 c.1775C>T p.A592V missense 0.00004278●●●●●●
68. 21112148 c.1951A>T p.N651Y missense 0.00004172●●●●●●
69. 21101830 c.2386G>A p.G796S missense 0.00004131●●●●●●
70. 21148754 c.686T>C p.I229T missense 0.00004126●●●●●●
71. 21157652 c.625G>A p.A209T missense 0.00004122●●●●●●
72. 21169820 c.383A>G p.Q128R missense 0.00004122●●●●●●
73. 21157607 c.670A>G p.K224E missense 0.00004121●●●●●●
74. 21124525 c.1366A>G p.I456V missense 0.00004119●●●●●●
75. 21148740 c.700A>G p.K234E missense 0.00003771●●●●●●
76. 21120169 c.1627C>G p.P543A missense 0.00003306●●●●●●
77. 21101709 c.2507G>A p.G836E missense 0.00003301●●●●●●
78. 21115381 c.1864A>C p.S622R missense 0.00003300●●●●●●
79. 21120416 c.1546G>A p.E516K missense 0.00003300●●●●●●
80. 21106585 c.2092A>G p.I698V missense 0.00003296●●●●●●
81. 21108411 c.1997C>T p.P666L missense 0.00003295●●●●●●
82. 21108402 c.2006T>C p.M669T missense 0.00003295●●●●●●
83. 21185924 c.116T>C p.M39T missense 0.00003295●●●●●●
84. 21186132 c.3G>T p.Met1? missense 0.00003104●●●●●●
85. 21186082 c.53T>C p.I18T missense 0.00002777●●●●●●
86. 21129748 c.1258A>G p.I420V missense 0.00002716●●●●●●
87. 21076158 c.2841G>A p.M947I missense 0.00002699●●●●●●
88. 21148719 c.721G>A p.D241N missense 0.00002547●●●●●●
89. 21148645 c.795C>G p.S265R missense 0.00002494●●●●●●
90. 21098758 c.2588C>G p.S863C missense 0.00002482●●●●●●
91. 21098812 c.2534G>A p.R845H missense 0.00002481●●●●●●
92. 21120490 c.1472A>G p.E491G missense 0.00002481●●●●●●
93. 21098770 c.2576A>C p.D859A missense 0.00002480●●●●●●
94. 21120184 c.1612G>T p.V538L missense 0.00002479●●●●●●
95. 21102888 c.2326G>A p.A776T missense 0.00002478●●●●●●
96. 21102906 c.2308A>G p.M770V missense 0.00002476●●●●●●
97. 21074755 c.2966A>G p.D989G missense 0.00002475●●●●●●
98. 21101797 c.2419G>C p.E807Q missense 0.00002475●●●●●●
99. 21178814 c.218T>C p.M73T missense 0.00002474●●●●●●
100. 21169779 c.424A>G p.M142V missense 0.00002472●●●●●●
101. 21169724 c.479A>G p.N160S missense 0.00002472●●●●●●
102. 21169791 c.412G>C p.D138H missense 0.00002472●●●●●●
103. 21108400 c.2008A>G p.T670A missense 0.00002471●●●●●●
104. 21108382 c.2026G>A p.V676M missense 0.00002471●●●●●●
105. 21186121 c.14T>C p.V5A missense 0.00002395●●●●●●
106. 21186099 c.36A>C p.E12D missense 0.00002046●●●●●●
107. 21117561 c.1674A>C p.R558S missense 0.00002013●●●●●●
108. 21117525 c.1710C>G p.N570K missense 0.00001715●●●●●●
109. 21117520 c.1715C>T p.S572F missense 0.00001708●●●●●●
110. 21117512 c.1723G>A p.A575T missense 0.00001695●●●●●●
111. 21129690 c.1316G>A p.R439Q missense 0.00001691●●●●●●
112. 21117487 c.1748T>C p.I583T missense 0.00001690●●●●●●
113. 21117503 c.1732C>T p.P578S missense 0.00001690●●●●●●
114. 21129709 c.1297G>T p.D433Y missense 0.00001688●●●●●●
115. 21115467 c.1778T>C p.V593A missense 0.00001670●●●●●●
116. 21178878 c.154A>G p.I52V missense 0.00001668●●●●●●
117. 21115461 c.1784A>G p.Y595C missense 0.00001666●●●●●●
118. 21112153 c.1946A>G p.Q649R missense 0.00001665●●●●●●
119. 21178875 c.157C>T p.R53C missense 0.00001664●●●●●●
120. 21112204 c.1895A>G p.H632R missense 0.00001663●●●●●●
121. 21148649 c.791C>T p.A264V missense 0.00001660●●●●●●
122. 21148655 c.785C>T p.T262I missense 0.00001658●●●●●●
123. 21134206 c.1208T>C p.I403T missense 0.00001658●●●●●●
124. 21120496 c.1466A>T p.D489V missense 0.00001657●●●●●●
125. 21134270 c.1144G>A p.E382K missense 0.00001657●●●●●●
126. 21148671 c.769A>G p.N257D missense 0.00001656●●●●●●
127. 21147171 c.901G>A p.G301S missense 0.00001655●●●●●●
128. 21120132 c.1664A>G p.Y555C missense 0.00001655●●●●●●
129. 21098747 c.2599C>T p.H867Y missense 0.00001655●●●●●●
130. 21178865 c.167A>C p.E56A missense 0.00001655●●●●●●
131. 21120137 c.1659A>T p.E553D missense 0.00001654●●●●●●
132. 21098812 c.2534G>C p.R845P missense 0.00001654●●●●●●
133. 21178774 c.258G>C p.E86D missense 0.00001653●●●●●●
134. 21098797 c.2549C>T p.S850F missense 0.00001653●●●●●●
135. 21177131 c.264A>C p.K88N missense 0.00001653●●●●●●
136. 21074719 c.3002G>A p.R1001K missense 0.00001652●●●●●●
137. 21097532 c.2668G>A p.G890S missense 0.00001652●●●●●●
138. 21158752 c.499G>A p.V167M missense 0.00001651●●●●●●
139. 21147200 c.872A>G p.H291R missense 0.00001651●●●●●●
140. 21102904 c.2310G>A p.M770I missense 0.00001651●●●●●●
141. 21102939 c.2275G>C p.G759R missense 0.00001651●●●●●●
142. 21147214 c.858G>C p.L286F missense 0.00001651●●●●●●
143. 21097474 c.2726G>A p.C909Y missense 0.00001650●●●●●●
144. 21177111 c.284C>T p.A95V missense 0.00001650●●●●●●
145. 21158736 c.515C>A p.T172K missense 0.00001650●●●●●●
146. 21097482 c.2718C>A p.S906R missense 0.00001650●●●●●●
147. 21120422 c.1540G>T p.A514S missense 0.00001650●●●●●●
148. 21097453 c.2747C>G p.P916R missense 0.00001650●●●●●●
149. 21097496 c.2704G>A p.E902K missense 0.00001650●●●●●●
150. 21158745 c.506A>G p.D169G missense 0.00001650●●●●●●
151. 21177070 c.325A>G p.I109V missense 0.00001649●●●●●●
152. 21158713 c.538C>T p.P180S missense 0.00001649●●●●●●
153. 21158703 c.548A>G p.K183R missense 0.00001649●●●●●●
154. 21139324 c.1116A>C p.E372D missense 0.00001649●●●●●●
155. 21157666 c.611T>C p.M204T missense 0.00001649●●●●●●
156. 21158715 c.536G>A p.R179Q missense 0.00001649●●●●●●
157. 21106537 c.2140A>G p.I714V missense 0.00001649●●●●●●
158. 21124462 c.1429G>C p.A477P missense 0.00001648●●●●●●
159. 21106573 c.2104C>T p.P702S missense 0.00001648●●●●●●
160. 21124495 c.1396A>G p.T466A missense 0.00001648●●●●●●
161. 21124537 c.1354G>A p.D452N missense 0.00001648●●●●●●
162. 21157627 c.650A>G p.E217G missense 0.00001648●●●●●●
163. 21108412 c.1996C>T p.P666S missense 0.00001648●●●●●●
164. 21106567 c.2110C>A p.L704M missense 0.00001648●●●●●●
165. 21124541 c.1350G>T p.K450N missense 0.00001648●●●●●●
166. 21124474 c.1417C>T p.H473Y missense 0.00001648●●●●●●
167. 21169773 c.430G>C p.E144Q missense 0.00001648●●●●●●
168. 21108386 c.2022G>C p.E674D missense 0.00001648●●●●●●
169. 21169729 c.474G>C p.Q158H missense 0.00001648●●●●●●
170. 21185903 c.137C>T p.T46M missense 0.00001647●●●●●●
171. 21108388 c.2020G>A p.E674K missense 0.00001647●●●●●●
172. 21186130 c.5G>A p.R2K missense 0.00001472●●●●●●
173. 21186125 c.10C>G p.P4A missense 0.00001272●●●●●●
174. 21186122 c.13G>A p.V5I missense 0.00001246●●●●●●
175. 21186109 c.26T>C p.I9T missense 0.00001102●●●●●●
176. 21129774 c.1232A>C p.E411A missense 0.00001094●●●●●●
177. 21186105 c.30A>C p.K10N missense 0.00001062●●●●●●
178. 21148753 c.687T>G p.I229M missense 0.00001031●●●●●●
179. 21117562 c.1673G>A p.R558K missense 0.00001015●●●●●●
180. 21186097 c.38C>T p.T13I missense 0.00001011●●●●●●
181. 21117559 c.1676A>G p.K559R missense 0.00000994●●●●●●
182. 21129762 c.1244A>C p.D415A missense 0.00000987●●●●●●
183. 21129756 c.1250A>G p.E417G missense 0.00000950●●●●●●
184. 21186086 c.49A>C p.K17Q missense 0.00000947●●●●●●
185. 21141577 c.905G>A p.R302Q missense 0.00000946●●●●●●
186. 21076149 c.2850G>A p.M950I missense 0.00000928●●●●●●
187. 21141575 c.907G>C p.E303Q missense 0.00000928●●●●●●
188. 21141571 c.911A>G p.Y304C missense 0.00000913●●●●●●
189. 21186076 c.59A>T p.E20V missense 0.00000897●●●●●●
190. 21076222 c.2777G>C p.G926A missense 0.00000897●●●●●●
191. 21076220 c.2779G>T p.A927S missense 0.00000891●●●●●●
192. 21148730 c.710A>G p.N237S missense 0.00000885●●●●●●
193. 21129742 c.1264G>A p.G422R missense 0.00000884●●●●●●
194. 21076212 c.2787G>C p.Q929H missense 0.00000878●●●●●●
195. 21076171 c.2828G>C p.S943T missense 0.00000875●●●●●●
196. 21076171 c.2828G>T p.S943I missense 0.00000875●●●●●●
197. 21076207 c.2792G>A p.S931N missense 0.00000873●●●●●●
198. 21076174 c.2825C>T p.T942I missense 0.00000872●●●●●●
199. 21076181 c.2818C>A p.H940N missense 0.00000869●●●●●●
200. 21186070 c.65A>C p.E22A missense 0.00000867●●●●●●
201. 21117529 c.1706C>G p.S569C missense 0.00000863●●●●●●
202. 21141560 c.922T>G p.F308V missense 0.00000862●●●●●●
203. 21129672 c.1334G>C p.S445T missense 0.00000861●●●●●●
204. 21186066 c.69T>A p.N23K missense 0.00000857●●●●●●
205. 21148723 c.717G>A p.M239I missense 0.00000857●●●●●●
206. 21141559 c.923T>C p.F308S missense 0.00000856●●●●●●
207. 21129727 c.1279C>T p.L427F missense 0.00000854●●●●●●
208. 21117467 c.1768A>T p.I590F missense 0.00000850●●●●●●
209. 21117514 c.1721T>C p.I574T missense 0.00000849●●●●●●
210. 21117513 c.1722A>G p.I574M missense 0.00000849●●●●●●
211. 21117469 c.1766A>G p.N589S missense 0.00000849●●●●●●
212. 21117511 c.1724C>G p.A575G missense 0.00000847●●●●●●
213. 21129716 c.1290A>C p.E430D missense 0.00000846●●●●●●
214. 21129714 c.1292T>C p.V431A missense 0.00000845●●●●●●
215. 21129702 c.1304A>G p.Q435R missense 0.00000843●●●●●●
216. 21120512 c.1450A>C p.K484Q missense 0.00000839●●●●●●
217. 21186055 c.80A>C p.Q27P missense 0.00000836●●●●●●
218. 21112220 c.1879A>G p.K627E missense 0.00000836●●●●●●
219. 21112147 c.1952A>C p.N651T missense 0.00000835●●●●●●
220. 21115468 c.1777G>T p.V593L missense 0.00000835●●●●●●
221. 21148706 c.734A>C p.H245P missense 0.00000835●●●●●●
222. 21120508 c.1454A>G p.D485G missense 0.00000835●●●●●●
223. 21147268 c.804G>T p.K268N missense 0.00000835●●●●●●
224. 21141544 c.938G>T p.G313V missense 0.00000835●●●●●●
225. 21112210 c.1889T>A p.I630N missense 0.00000833●●●●●●
226. 21120505 c.1457A>G p.Y486C missense 0.00000833●●●●●●
227. 21139431 c.1009G>T p.V337L missense 0.00000833●●●●●●
228. 21112151 c.1948A>G p.K650E missense 0.00000833●●●●●●
229. 21148643 c.797A>G p.N266S missense 0.00000832●●●●●●
230. 21177136 c.259G>C p.A87P missense 0.00000832●●●●●●
231. 21177136 c.259G>A p.A87T missense 0.00000832●●●●●●
232. 21134284 c.1130A>G p.E377G missense 0.00000832●●●●●●
233. 21134282 c.1132G>A p.D378N missense 0.00000831●●●●●●
234. 21097582 c.2618C>T p.A873V missense 0.00000831●●●●●●
235. 21120501 c.1461A>C p.K487N missense 0.00000831●●●●●●
236. 21147258 c.814G>C p.D272H missense 0.00000831●●●●●●
237. 21134200 c.1214A>G p.N405S missense 0.00000830●●●●●●
238. 21148695 c.745C>A p.L249I missense 0.00000830●●●●●●
239. 21147257 c.815A>G p.D272G missense 0.00000830●●●●●●
240. 21112195 c.1904C>T p.A635V missense 0.00000830●●●●●●
241. 21134207 c.1207A>G p.I403V missense 0.00000829●●●●●●
242. 21112174 c.1925T>C p.L642P missense 0.00000829●●●●●●
243. 21134271 c.1143G>T p.K381N missense 0.00000829●●●●●●
244. 21104636 c.2159G>A p.R720K missense 0.00000828●●●●●●
245. 21134256 c.1158G>C p.R386S missense 0.00000828●●●●●●
246. 21098821 c.2525A>G p.K842R missense 0.00000828●●●●●●
247. 21141532 c.950T>C p.F317S missense 0.00000828●●●●●●
248. 21098742 c.2604G>A p.M868I missense 0.00000828●●●●●●
249. 21134219 c.1195C>A p.H399N missense 0.00000828●●●●●●
250. 21098750 c.2596C>T p.L866F missense 0.00000828●●●●●●
251. 21134219 c.1195C>T p.H399Y missense 0.00000828●●●●●●
252. 21120496 c.1466A>G p.D489G missense 0.00000828●●●●●●
253. 21148676 c.764G>A p.R255K missense 0.00000828●●●●●●
254. 21102971 c.2243T>C p.V748A missense 0.00000828●●●●●●
255. 21134234 c.1180A>G p.T394A missense 0.00000828●●●●●●
256. 21098753 c.2593A>G p.S865G missense 0.00000827●●●●●●
257. 21098756 c.2590A>G p.R864G missense 0.00000827●●●●●●
258. 21147242 c.830A>G p.H277R missense 0.00000827●●●●●●
259. 21097553 c.2647T>C p.S883P missense 0.00000827●●●●●●
260. 21157694 c.583G>A p.A195T missense 0.00000827●●●●●●
261. 21120156 c.1640G>A p.R547Q missense 0.00000827●●●●●●
262. 21098765 c.2581A>G p.I861V missense 0.00000827●●●●●●
263. 21074714 c.3007G>A p.G1003R missense 0.00000827●●●●●●
264. 21097555 c.2645G>A p.R882Q missense 0.00000827●●●●●●
265. 21120137 c.1659A>C p.E553D missense 0.00000827●●●●●●
266. 21104634 c.2161G>C p.G721R missense 0.00000827●●●●●●
267. 21120483 c.1479A>T p.E493D missense 0.00000826●●●●●●
268. 21120187 c.1609C>A p.Q537K missense 0.00000826●●●●●●
269. 21120174 c.1622A>G p.D541G missense 0.00000826●●●●●●
270. 21098780 c.2566C>T p.P856S missense 0.00000826●●●●●●
271. 21147228 c.844G>A p.D282N missense 0.00000826●●●●●●
272. 21098797 c.2549C>G p.S850C missense 0.00000826●●●●●●
273. 21141515 c.967G>C p.E323Q missense 0.00000826●●●●●●
274. 21097547 c.2653T>C p.S885P missense 0.00000826●●●●●●
275. 21104612 c.2183C>T p.T728I missense 0.00000826●●●●●●
276. 21178854 c.178A>G p.K60E missense 0.00000826●●●●●●
277. 21157688 c.589T>C p.Y197H missense 0.00000826●●●●●●
278. 21177123 c.272G>T p.G91V missense 0.00000826●●●●●●
279. 21102891 c.2323G>A p.E775K missense 0.00000826●●●●●●
280. 21158755 c.496G>A p.D166N missense 0.00000826●●●●●●
281. 21147189 c.883G>A p.A295T missense 0.00000826●●●●●●
282. 21104591 c.2204T>A p.M735K missense 0.00000826●●●●●●
283. 21120178 c.1618A>G p.M540V missense 0.00000826●●●●●●
284. 21098786 c.2560C>T p.L854F missense 0.00000826●●●●●●
285. 21104621 c.2174G>C p.R725T missense 0.00000826●●●●●●
286. 21158761 c.490A>G p.R164G missense 0.00000826●●●●●●
287. 21178856 c.176A>G p.K59R missense 0.00000826●●●●●●
288. 21101821 c.2395C>G p.P799A missense 0.00000826●●●●●●
289. 21177124 c.271G>A p.G91S missense 0.00000826●●●●●●
290. 21102894 c.2320A>G p.K774E missense 0.00000826●●●●●●
291. 21120184 c.1612G>A p.V538M missense 0.00000826●●●●●●
292. 21178782 c.250A>T p.I84F missense 0.00000826●●●●●●
293. 21102957 c.2257G>A p.D753N missense 0.00000826●●●●●●
294. 21158752 c.499G>C p.V167L missense 0.00000826●●●●●●
295. 21120481 c.1481T>G p.I494S missense 0.00000826●●●●●●
296. 21147238 c.834T>A p.D278E missense 0.00000826●●●●●●
297. 21102899 c.2315A>T p.H772L missense 0.00000826●●●●●●
298. 21097499 c.2701T>C p.S901P missense 0.00000825●●●●●●
299. 21158709 c.542A>G p.D181G missense 0.00000825●●●●●●
300. 21097516 c.2684A>C p.D895A missense 0.00000825●●●●●●
301. 21157672 c.605G>T p.G202V missense 0.00000825●●●●●●
302. 21101788 c.2428A>G p.R810G missense 0.00000825●●●●●●
303. 21074840 c.2881G>A p.A961T missense 0.00000825●●●●●●
304. 21101715 c.2501G>A p.R834K missense 0.00000825●●●●●●
305. 21157676 c.601C>A p.Q201K missense 0.00000825●●●●●●
306. 21120441 c.1521T>A p.D507E missense 0.00000825●●●●●●
307. 21158738 c.513C>A p.H171Q missense 0.00000825●●●●●●
308. 21120434 c.1528A>G p.R510G missense 0.00000825●●●●●●
309. 21158748 c.503A>T p.Q168L missense 0.00000825●●●●●●
310. 21158691 c.560A>G p.Q187R missense 0.00000825●●●●●●
311. 21101815 c.2401G>A p.V801M missense 0.00000825●●●●●●
312. 21097520 c.2680G>C p.G894R missense 0.00000825●●●●●●
313. 21097454 c.2746C>T p.P916S missense 0.00000825●●●●●●
314. 21177086 c.309G>T p.K103N missense 0.00000825●●●●●●
315. 21120406 c.1556G>A p.S519N missense 0.00000825●●●●●●
316. 21157678 c.599G>C p.G200A missense 0.00000825●●●●●●
317. 21102909 c.2305G>C p.A769P missense 0.00000825●●●●●●
318. 21177069 c.326T>A p.I109N missense 0.00000825●●●●●●
319. 21178815 c.217A>G p.M73V missense 0.00000825●●●●●●
320. 21115415 c.1830G>T p.E610D missense 0.00000825●●●●●●
321. 21074843 c.2878C>G p.R960G missense 0.00000825●●●●●●
322. 21177072 c.323C>T p.T108I missense 0.00000825●●●●●●
323. 21158749 c.502C>G p.Q168E missense 0.00000825●●●●●●
324. 21120435 c.1527G>C p.Q509H missense 0.00000825●●●●●●
325. 21106529 c.2148T>A p.N716K missense 0.00000825●●●●●●
326. 21097501 c.2699T>A p.I900N missense 0.00000825●●●●●●
327. 21101703 c.2513T>C p.I838T missense 0.00000825●●●●●●
328. 21074762 c.2959A>G p.I987V missense 0.00000825●●●●●●
329. 21147203 c.869A>G p.D290G missense 0.00000825●●●●●●
330. 21097520 c.2680G>A p.G894R missense 0.00000825●●●●●●
331. 21158743 c.508A>C p.T170P missense 0.00000825●●●●●●
332. 21101698 c.2518G>T p.D840Y missense 0.00000825●●●●●●
333. 21157678 c.599G>T p.G200V missense 0.00000825●●●●●●
334. 21101805 c.2411C>A p.P804H missense 0.00000825●●●●●●
335. 21177115 c.280A>G p.K94E missense 0.00000825●●●●●●
336. 21115417 c.1828G>C p.E610Q missense 0.00000825●●●●●●
337. 21158705 c.546C>G p.I182M missense 0.00000825●●●●●●
338. 21097510 c.2690G>A p.R897K missense 0.00000825●●●●●●
339. 21157667 c.610A>G p.M204V missense 0.00000825●●●●●●
340. 21101787 c.2429G>A p.R810K missense 0.00000825●●●●●●
341. 21177063 c.332G>A p.S111N missense 0.00000825●●●●●●
342. 21115379 c.1866T>G p.S622R missense 0.00000825●●●●●●
343. 21101760 c.2456C>A p.A819D missense 0.00000825●●●●●●
344. 21141497 c.985G>A p.G329S missense 0.00000825●●●●●●
345. 21120433 c.1529G>T p.R510I missense 0.00000825●●●●●●
346. 21097471 c.2729G>A p.C910Y missense 0.00000825●●●●●●
347. 21178847 c.185A>G p.K62R missense 0.00000825●●●●●●
348. 21158680 c.571A>T p.I191F missense 0.00000825●●●●●●
349. 21178793 c.239T>A p.I80N missense 0.00000825●●●●●●
350. 21157682 c.595A>G p.K199E missense 0.00000825●●●●●●
351. 21177118 c.277A>G p.I93V missense 0.00000825●●●●●●
352. 21177106 c.289C>G p.L97V missense 0.00000825●●●●●●
353. 21101809 c.2407G>A p.D803N missense 0.00000825●●●●●●
354. 21169755 c.448C>T p.H150Y missense 0.00000824●●●●●●
355. 21124488 c.1403C>T p.T468I missense 0.00000824●●●●●●
356. 21185901 c.139G>A p.E47K missense 0.00000824●●●●●●
357. 21139352 c.1088C>T p.S363L missense 0.00000824●●●●●●
358. 21106547 c.2130C>G p.N710K missense 0.00000824●●●●●●
359. 21124524 c.1367T>C p.I456T missense 0.00000824●●●●●●
360. 21074818 c.2903A>G p.Q968R missense 0.00000824●●●●●●
361. 21169734 c.469C>T p.H157Y missense 0.00000824●●●●●●
362. 21124444 c.1447G>A p.E483K missense 0.00000824●●●●●●
363. 21185927 c.113G>A p.S38N missense 0.00000824●●●●●●
364. 21157639 c.638G>T p.R213I missense 0.00000824●●●●●●
365. 21157613 c.664G>T p.A222S missense 0.00000824●●●●●●
366. 21169767 c.436C>T p.P146S missense 0.00000824●●●●●●
367. 21185928 c.112A>C p.S38R missense 0.00000824●●●●●●
368. 21169779 c.424A>C p.M142L missense 0.00000824●●●●●●
369. 21108357 c.2051G>A p.S684N missense 0.00000824●●●●●●
370. 21169730 c.473A>G p.Q158R missense 0.00000824●●●●●●
371. 21139377 c.1063G>T p.V355F missense 0.00000824●●●●●●
372. 21106557 c.2120C>T p.A707V missense 0.00000824●●●●●●
373. 21074824 c.2897G>T p.S966I missense 0.00000824●●●●●●
374. 21169745 c.458A>T p.E153V missense 0.00000824●●●●●●
375. 21124473 c.1418A>T p.H473L missense 0.00000824●●●●●●
376. 21124446 c.1445G>A p.S482N missense 0.00000824●●●●●●
377. 21185939 c.101T>C p.I34T missense 0.00000824●●●●●●
378. 21108379 c.2029A>T p.R677W missense 0.00000824●●●●●●
379. 21185927 c.113G>T p.S38I missense 0.00000824●●●●●●
380. 21157645 c.632T>A p.I211N missense 0.00000824●●●●●●
381. 21169805 c.398C>T p.A133V missense 0.00000824●●●●●●
382. 21169775 c.428A>G p.K143R missense 0.00000824●●●●●●
383. 21124509 c.1382G>A p.G461E missense 0.00000824●●●●●●
384. 21108403 c.2005A>T p.M669L missense 0.00000824●●●●●●
385. 21169732 c.471C>G p.H157Q missense 0.00000824●●●●●●
386. 21185903 c.137C>G p.T46R missense 0.00000824●●●●●●
387. 21185895 c.145A>G p.I49V missense 0.00000824●●●●●●
388. 21106575 c.2102C>T p.P701L missense 0.00000824●●●●●●
389. 21169728 c.475A>G p.S159G missense 0.00000824●●●●●●
390. 21157601 c.676T>C p.S226P missense 0.00000824●●●●●●
391. 21124492 c.1399G>A p.D467N missense 0.00000824●●●●●●
392. 21074831 c.2890G>A p.D964N missense 0.00000824●●●●●●
393. 21124462 c.1429G>A p.A477T missense 0.00000824●●●●●●
394. 21185951 c.89A>G p.Y30C missense 0.00000824●●●●●●
395. 21139343 c.1097C>T p.A366V missense 0.00000824●●●●●●
396. 21157636 c.641C>T p.P214L missense 0.00000824●●●●●●
397. 21074817 c.2904G>C p.Q968H missense 0.00000824●●●●●●
398. 21124515 c.1376G>A p.G459E missense 0.00000824●●●●●●
399. 21169733 c.470A>T p.H157L missense 0.00000824●●●●●●
400. 21106594 c.2083G>A p.G695R missense 0.00000824●●●●●●
401. 21108414 c.1994C>T p.T665I missense 0.00000824●●●●●●
402. 21108406 c.2002A>G p.S668G missense 0.00000824●●●●●●
403. 21157619 c.658G>A p.V220M missense 0.00000824●●●●●●
404. 21106602 c.2075T>G p.L692R missense 0.00000824●●●●●●
405. 21106567 c.2110C>G p.L704V missense 0.00000824●●●●●●
406. 21185904 c.136A>G p.T46A missense 0.00000824●●●●●●
407. 21157625 c.652C>T p.H218Y missense 0.00000824●●●●●●
408. 21169770 c.433C>G p.P145A missense 0.00000824●●●●●●
409. 21157605 c.672A>T p.K224N 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.