HELZ2 variants in ExAC

HELZ2 gene summary
HELZ2 variants in

The table below lists the HELZ2 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. 62196807 c.3368A>G p.H1123R missense 0.96640263●●●●●●
2. 62198348 c.2363G>A p.S788N missense 0.91453741●●●●●●
3. 62193414 c.6529+11T>C splice site 0.87979252●●●●●●
4. 62194030 c.6145C>G p.Q2049E missense 0.52447076●●●●●●
5. 62196253 c.3922G>T p.V1308L missense 0.39634476●●●●●●
6. 62194128 c.6047C>T p.P2016L missense 0.30352589●●●●●●
7. 62196033 c.4142G>A p.R1381K missense 0.29954855●●●●●●
8. 62194713 c.5462T>G p.L1821R missense 0.26980676●●●●●●
9. 62195220 c.4955G>A p.R1652Q missense 0.26258358●●●●●●
10. 62200576 c.1013C>T p.S338L missense 0.21306303●●●●●●
11. 62193445 c.6509C>T p.T2170M missense 0.18545497●●●●●●
12. 62200738 c.851C>T p.A284V missense 0.11899233●●●●●●
13. 62194510 c.5665A>G p.T1889A missense 0.05979219●●●●●●
14. 62203663 c.76G>A p.D26N missense 0.01702672●●●●●●
15. 62196648 c.3527T>C p.L1176P missense 0.01323257●●●●●●
16. 62190628 c.7921G>A p.V2641I missense 0.01233752●●●●●●
17. 62194212 c.5963G>T p.R1988L missense 0.01024555●●●●●●
18. 62203657 c.82C>T p.R28C missense 0.00861436●●●●●●
19. 62195800 c.4375G>C p.E1459Q missense 0.00786878●●●●●●
20. 62190631 c.7918C>T p.R2640C missense 0.00713713●●●●●●
21. 62192969 c.6821C>T p.P2274L missense 0.00626608●●●●●●
22. 62195910 c.4265G>A p.R1422Q missense 0.00619469●●●●●●
23. 62195923 c.4252C>T p.L1418F missense 0.00615146●●●●●●
24. 62190660 c.7889A>G p.Q2630R missense 0.00604576●●●●●●
25. 62198819 c.1892G>A p.R631H missense 0.00533187●●●●●●
26. 62191452 c.7658-4G>A splice site 0.00525489●●●●●●
27. 62202144 c.356C>T p.T119M missense 0.00457255●●●●●●
28. 62190630 c.7919G>A p.R2640H missense 0.00448501●●●●●●
29. 62198961 c.1750C>T p.R584W missense 0.00403523●●●●●●
30. 62196442 c.3733G>A p.G1245S missense 0.00329794●●●●●●
31. 62196720 c.3455C>T p.S1152L missense 0.00299255●●●●●●
32. 62195416 c.4759G>A p.G1587S missense 0.00289336●●●●●●
33. 62196661 c.3514G>A p.V1172M missense 0.00270717●●●●●●
34. 62194011 c.6164G>A p.R2055H missense 0.00267549●●●●●●
35. 62199937 c.1504G>A p.A502T missense 0.00252356●●●●●●
36. 62191974 c.7358C>T p.P2453L missense 0.00185456●●●●●●
37. 62194809 c.5366C>T p.P1789L missense 0.00183775●●●●●●
38. 62194107 c.6068G>A p.R2023H missense 0.00182162●●●●●●
39. 62193253 c.6614C>A p.P2205H missense 0.00175960●●●●●●
40. 62195814 c.4361G>A p.R1454H missense 0.00166605●●●●●●
41. 62194464 c.5711C>T p.T1904M missense 0.00165004●●●●●●
42. 62199849 c.1592C>T p.P531L missense 0.00161686●●●●●●
43. 62200087 c.1354C>T p.R452C missense 0.00160253●●●●●●
44. 62194818 c.5357C>T p.A1786V missense 0.00160023●●●●●●
45. 62191410 c.7696A>G p.T2566A missense 0.00146418●●●●●●
46. 62192427 c.7146+8G>A splice site 0.00134145●●●●●●
47. 62195227 c.4948T>C p.C1650R missense 0.00133916●●●●●●
48. 62195710 c.4465G>A p.A1489T missense 0.00125361●●●●●●
49. 62192206 c.7223G>T p.R2408L missense 0.00116465●●●●●●
50. 62196625 c.3550G>A p.E1184K missense 0.00110160●●●●●●
51. 62201851 c.570+6C>T splice site 0.00109757●●●●●●
52. 62197814 c.2515-8G>A splice site 0.00109638●●●●●●
53. 62200157 c.1284T>G p.N428K missense 0.00105724●●●●●●
54. 62195344 c.4831C>T p.R1611C missense 0.00104403●●●●●●
55. 62190688 c.7861C>T p.R2621C missense 0.00095619●●●●●●
56. 62191282 c.7824C>T p.I2608I splice site 0.00090746●●●●●●
57. 62203656 c.83G>A p.R28H missense 0.00089749●●●●●●
58. 62192215 c.7214G>A p.G2405D missense 0.00084801●●●●●●
59. 62191691 c.7501-11C>T splice site 0.00084363●●●●●●
60. 62195467 c.4708C>G p.H1570D missense 0.00084040●●●●●●
61. 62194291 c.5884G>A p.D1962N missense 0.00083814●●●●●●
62. 62198583 c.2128C>T p.R710W missense 0.00082048●●●●●●
63. 62198450 c.2261C>T p.S754L missense 0.00077275●●●●●●
64. 62191273 c.7825+8C>T splice site 0.00076763●●●●●●
65. 62198582 c.2129G>A p.R710Q missense 0.00075903●●●●●●
66. 62194864 c.5311G>A p.V1771I missense 0.00074766●●●●●●
67. 62195830 c.4345G>A p.V1449M missense 0.00074016●●●●●●
68. 62203708 c.31G>A p.G11S missense 0.00072024●●●●●●
69. 62200017 c.1424C>T p.P475L missense 0.00071733●●●●●●
70. 62200762 c.827G>A p.R276H missense 0.00071572●●●●●●
71. 62198793 c.1918C>T p.R640W missense 0.00070771●●●●●●
72. 62193561 c.6398-5C>T splice site 0.00069589●●●●●●
73. 62201849 c.570+8G>A splice site 0.00069224●●●●●●
74. 62197775 c.2546G>A p.R849Q missense 0.00068648●●●●●●
75. 62203653 c.86C>T p.T29M missense 0.00068611●●●●●●
76. 62194884 c.5291C>T p.T1764M missense 0.00068493●●●●●●
77. 62194887 c.5288A>T p.E1763V missense 0.00068470●●●●●●
78. 62193171 c.6691+5G>A splice site 0.00067084●●●●●●
79. 62193742 c.6303-7C>A splice site 0.00066641●●●●●●
80. 62195230 c.4945C>T p.R1649C missense 0.00066251●●●●●●
81. 62194200 c.5975C>G p.A1992G missense 0.00064619●●●●●●
82. 62196448 c.3727C>T p.R1243W missense 0.00064164●●●●●●
83. 62194345 c.5830G>A p.V1944M missense 0.00061842●●●●●●
84. 62196096 c.4079G>A p.R1360Q missense 0.00061586●●●●●●
85. 62196413 c.3762G>C p.R1254S missense 0.00061153●●●●●●
86. 62200930 c.659A>G p.Y220C missense 0.00060611●●●●●●
87. 62191557 c.7624G>A p.G2542R missense 0.00058304●●●●●●
88. 62191623 c.7558G>A p.V2520I missense 0.00057862●●●●●●
89. 62195868 c.4307C>G p.A1436G missense 0.00057845●●●●●●
90. 62195952 c.4223C>T p.P1408L missense 0.00057050●●●●●●
91. 62200909 c.680G>A p.R227H missense 0.00055358●●●●●●
92. 62196987 c.3188C>T p.P1063L missense 0.00054341●●●●●●
93. 62203671 c.68C>T p.P23L missense 0.00050852●●●●●●
94. 62200164 c.1277C>T p.P426L missense 0.00049865●●●●●●
95. 62192043 c.7289G>A p.G2430D missense 0.00046838●●●●●●
96. 62196819 c.3356G>A p.R1119Q missense 0.00046345●●●●●●
97. 62194000 c.6175C>T p.R2059W missense 0.00044681●●●●●●
98. 62200871 c.718C>T p.R240C missense 0.00044127●●●●●●
99. 62195617 c.4558G>A p.A1520T missense 0.00043699●●●●●●
100. 62203561 c.178G>A p.A60T missense 0.00040181●●●●●●
101. 62196934 c.3241G>A p.E1081K missense 0.00039979●●●●●●
102. 62196286 c.3889C>T p.L1297F missense 0.00039639●●●●●●
103. 62195455 c.4720G>A p.V1574M missense 0.00039343●●●●●●
104. 62191383 c.7723C>T p.R2575W missense 0.00039319●●●●●●
105. 62195538 c.4637C>T p.T1546M missense 0.00039177●●●●●●
106. 62194676 c.5499G>T p.E1833D missense 0.00038742●●●●●●
107. 62197300 c.2875C>T p.R959W missense 0.00038152●●●●●●
108. 62196190 c.3985C>T p.R1329W missense 0.00037453●●●●●●
109. 62194755 c.5420C>T p.P1807L missense 0.00036252●●●●●●
110. 62194234 c.5941G>A p.G1981R missense 0.00036197●●●●●●
111. 62194245 c.5930G>A p.R1977Q missense 0.00035853●●●●●●
112. 62198553 c.2158C>G p.L720V missense 0.00035520●●●●●●
113. 62203660 c.79G>A p.G27R missense 0.00034726●●●●●●
114. 62196600 c.3575T>G p.L1192R missense 0.00034099●●●●●●
115. 62200627 c.962C>T p.P321L missense 0.00033642●●●●●●
116. 62192057 c.7282-7C>T splice site 0.00033530●●●●●●
117. 62194984 c.5191G>A p.V1731M missense 0.00032417●●●●●●
118. 62194242 c.5933C>T p.T1978M missense 0.00032210●●●●●●
119. 62195409 c.4766G>A p.G1589D missense 0.00031985●●●●●●
120. 62196606 c.3569G>A p.R1190H missense 0.00031822●●●●●●
121. 62194993 c.5182C>T p.H1728Y missense 0.00031067●●●●●●
122. 62196406 c.3769G>A p.A1257T missense 0.00029636●●●●●●
123. 62190706 c.7843C>T p.R2615C missense 0.00029399●●●●●●
124. 62194617 c.5558C>T p.A1853V missense 0.00029274●●●●●●
125. 62191395 c.7711G>A p.D2571N missense 0.00029154●●●●●●
126. 62192799 c.6857G>A p.R2286Q missense 0.00028163●●●●●●
127. 62191903 c.7429C>T p.R2477W missense 0.00028139●●●●●●
128. 62195778 c.4397G>A p.R1466K missense 0.00027319●●●●●●
129. 62196853 c.3322C>T p.R1108W missense 0.00027196●●●●●●
130. 62194812 c.5363G>A p.R1788Q missense 0.00027078●●●●●●
131. 62194123 c.6052C>G p.P2018A missense 0.00026790●●●●●●
132. 62193227 c.6640C>T p.P2214S missense 0.00026490●●●●●●
133. 62196028 c.4147G>A p.G1383R missense 0.00026462●●●●●●
134. 62195878 c.4297A>G p.M1433V missense 0.00025899●●●●●●
135. 62198241 c.2470G>A p.G824S missense 0.00025518●●●●●●
136. 62200204 c.1237C>T p.R413W missense 0.00024839●●●●●●
137. 62198808 c.1903C>T p.R635W missense 0.00024141●●●●●●
138. 62191575 c.7606C>T p.R2536W missense 0.00023861●●●●●●
139. 62203699 c.40C>T p.R14W missense 0.00023498●●●●●●
140. 62197047 c.3128C>T p.A1043V missense 0.00023430●●●●●●
141. 62199985 c.1456G>A p.D486N missense 0.00022878●●●●●●
142. 62200561 c.1028G>A p.R343Q missense 0.00022785●●●●●●
143. 62194482 c.5693C>T p.P1898L missense 0.00022673●●●●●●
144. 62195815 c.4360C>T p.R1454C missense 0.00022668●●●●●●
145. 62192235 c.7194T>G p.N2398K missense 0.00022439●●●●●●
146. 62198297 c.2414C>T p.A805V missense 0.00021993●●●●●●
147. 62194929 c.5246C>T p.A1749V missense 0.00021844●●●●●●
148. 62193478 c.6476T>C p.V2159A missense 0.00021800●●●●●●
149. 62200925 c.664C>T p.R222W missense 0.00021412●●●●●●
150. 62196792 c.3383G>A p.R1128Q missense 0.00021405●●●●●●
151. 62198657 c.2054C>T p.S685L missense 0.00021226●●●●●●
152. 62194390 c.5785C>T p.R1929W missense 0.00021028●●●●●●
153. 62197572 c.2603G>A p.R868Q missense 0.00020859●●●●●●
154. 62198984 c.1731-4G>A splice site 0.00020816●●●●●●
155. 62197059 c.3116G>C p.C1039S missense 0.00020770●●●●●●
156. 62194785 c.5390G>A p.R1797H missense 0.00020730●●●●●●
157. 62199891 c.1550G>C p.R517P missense 0.00020432●●●●●●
158. 62193719 c.6319G>A p.V2107M missense 0.00020321●●●●●●
159. 62196430 c.3745C>T p.R1249C missense 0.00020299●●●●●●
160. 62200155 c.1286C>T p.T429M missense 0.00020102●●●●●●
161. 62199761 c.1680G>C p.E560D missense 0.00019845●●●●●●
162. 62195686 c.4489C>T p.R1497C missense 0.00019506●●●●●●
163. 62194936 c.5239G>A p.V1747M missense 0.00019474●●●●●●
164. 62196961 c.3214G>A p.D1072N missense 0.00019043●●●●●●
165. 62194770 c.5405C>T p.A1802V missense 0.00018861●●●●●●
166. 62200682 c.907C>G p.P303A missense 0.00018529●●●●●●
167. 62194761 c.5414C>T p.S1805F missense 0.00018460●●●●●●
168. 62198514 c.2197C>T p.R733W missense 0.00017935●●●●●●
169. 62195134 c.5041G>A p.V1681M missense 0.00017931●●●●●●
170. 62194389 c.5786G>A p.R1929Q missense 0.00017835●●●●●●
171. 62193999 c.6176G>A p.R2059Q missense 0.00017630●●●●●●
172. 62199837 c.1604G>T p.R535M missense 0.00017628●●●●●●
173. 62194837 c.5338G>A p.E1780K missense 0.00017501●●●●●●
174. 62196127 c.4048G>A p.A1350T missense 0.00017391●●●●●●
175. 62197390 c.2785G>A p.E929K missense 0.00017349●●●●●●
176. 62195259 c.4916G>A p.R1639H missense 0.00017269●●●●●●
177. 62193734 c.6304C>T p.R2102C missense 0.00017241●●●●●●
178. 62195905 c.4270C>T p.R1424C missense 0.00017232●●●●●●
179. 62193967 c.6208G>A p.V2070I missense 0.00017026●●●●●●
180. 62200870 c.719G>A p.R240H missense 0.00016887●●●●●●
181. 62194891 c.5284C>T p.R1762W missense 0.00016784●●●●●●
182. 62192281 c.7148T>C p.V2383A missense 0.00016705●●●●●●
183. 62203546 c.193G>A p.A65T missense 0.00016583●●●●●●
184. 62200889 c.700G>A p.D234N missense 0.00016558●●●●●●
185. 62200275 c.1166G>A p.G389E missense 0.00016507●●●●●●
186. 62200285 c.1156G>A p.A386T missense 0.00016486●●●●●●
187. 62195661 c.4514G>A p.C1505Y missense 0.00016380●●●●●●
188. 62197178 c.2997G>T p.E999D missense 0.00016360●●●●●●
189. 62196808 c.3367C>T p.H1123Y missense 0.00016360●●●●●●
190. 62191453 c.7658-5C>T splice site 0.00016359●●●●●●
191. 62198934 c.1777G>A p.G593S missense 0.00016325●●●●●●
192. 62198189 c.2514+8C>T splice site 0.00016281●●●●●●
193. 62194831 c.5344C>G p.P1782A missense 0.00016260●●●●●●
194. 62194087 c.6088G>A p.G2030S missense 0.00016253●●●●●●
195. 62196555 c.3620G>A p.R1207H missense 0.00016241●●●●●●
196. 62198967 c.1744T>C p.Y582H missense 0.00016177●●●●●●
197. 62198355 c.2356G>C p.A786P missense 0.00015934●●●●●●
198. 62198831 c.1880G>A p.R627H missense 0.00015672●●●●●●
199. 62194901 c.5274C>G p.F1758L missense 0.00015591●●●●●●
200. 62198833 c.1878C>G p.D626E missense 0.00015565●●●●●●
201. 62196793 c.3382C>T p.R1128W missense 0.00015543●●●●●●
202. 62193239 c.6628C>T p.R2210W missense 0.00015521●●●●●●
203. 62196420 c.3755T>G p.L1252R missense 0.00015425●●●●●●
204. 62192779 c.6877C>A p.P2293T missense 0.00015113●●●●●●
205. 62197589 c.2591-5T>G splice site 0.00014894●●●●●●
206. 62198816 c.1895C>T p.P632L missense 0.00014829●●●●●●
207. 62195466 c.4709A>G p.H1570R missense 0.00014784●●●●●●
208. 62194618 c.5557G>A p.A1853T missense 0.00014767●●●●●●
209. 62198960 c.1751G>A p.R584Q missense 0.00014397●●●●●●
210. 62195709 c.4466C>T p.A1489V missense 0.00014379●●●●●●
211. 62191272 c.7825+9G>A splice site 0.00014357●●●●●●
212. 62195011 c.5164C>T p.R1722W missense 0.00014321●●●●●●
213. 62195758 c.4417C>T p.R1473C missense 0.00014288●●●●●●
214. 62200306 c.1135C>T p.P379S missense 0.00013880●●●●●●
215. 62199861 c.1580C>T p.A527V missense 0.00013642●●●●●●
216. 62197582 c.2593C>T p.R865W missense 0.00013351●●●●●●
217. 62202117 c.383C>T p.A128V missense 0.00013255●●●●●●
218. 62191852 c.7480C>G p.L2494V missense 0.00013242●●●●●●
219. 62194374 c.5801G>A p.R1934Q missense 0.00013224●●●●●●
220. 62193658 c.6380C>T p.P2127L missense 0.00013219●●●●●●
221. 62193282 c.6585C>G p.N2195K missense 0.00013218●●●●●●
222. 62196246 c.3929C>T p.P1310L missense 0.00012731●●●●●●
223. 62191344 c.7762G>A p.V2588I missense 0.00012586●●●●●●
224. 62193253 c.6614C>T p.P2205L missense 0.00012392●●●●●●
225. 62190687 c.7862G>A p.R2621H missense 0.00012356●●●●●●
226. 62190609 c.7940T>C p.M2647T missense 0.00012327●●●●●●
227. 62198973 c.1738G>A p.D580N missense 0.00012231●●●●●●
228. 62193694 c.6344C>T p.P2115L missense 0.00012127●●●●●●
229. 62196538 c.3637C>T p.P1213S missense 0.00012020●●●●●●
230. 62194644 c.5531C>T p.A1844V missense 0.00011962●●●●●●
231. 62203647 c.92C>T p.P31L missense 0.00011951●●●●●●
232. 62196201 c.3974C>T p.T1325M missense 0.00011899●●●●●●
233. 62198646 c.2065C>T p.R689C missense 0.00011885●●●●●●
234. 62191413 c.7693C>T p.R2565C missense 0.00011755●●●●●●
235. 62203504 c.235C>T p.R79C missense 0.00011721●●●●●●
236. 62203698 c.41G>A p.R14Q missense 0.00011709●●●●●●
237. 62192745 c.6911G>A p.R2304Q missense 0.00011637●●●●●●
238. 62197147 c.3028C>T p.R1010C missense 0.00011590●●●●●●
239. 62200222 c.1219C>G p.Q407E missense 0.00011446●●●●●●
240. 62198741 c.1970C>T p.P657L missense 0.00011438●●●●●●
241. 62194009 c.6166C>T p.R2056W missense 0.00011285●●●●●●
242. 62196196 c.3979C>G p.L1327V missense 0.00011056●●●●●●
243. 62198324 c.2387C>T p.A796V missense 0.00010965●●●●●●
244. 62195413 c.4762G>T p.G1588W missense 0.00010916●●●●●●
245. 62193464 c.6490G>T p.A2164S missense 0.00010880●●●●●●
246. 62194552 c.5623C>T p.R1875W missense 0.00010795●●●●●●
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991. 62193546 c.6408C>G p.S2136R missense 0.00000946●●●●●●
992. 62193545 c.6409A>G p.R2137G missense 0.00000945●●●●●●
993. 62195605 c.4570A>T p.M1524L missense 0.00000945●●●●●●
994. 62193536 c.6418G>C p.E2140Q missense 0.00000944●●●●●●
995. 62202057 c.443G>A p.S148N missense 0.00000943●●●●●●
996. 62193519 c.6435C>A p.N2145K missense 0.00000942●●●●●●
997. 62202052 c.448A>G p.S150G missense 0.00000942●●●●●●
998. 62193512 c.6442G>C p.G2148R missense 0.00000941●●●●●●
999. 62202088 c.412C>T p.Q138X nonsense 0.00000941●●●●●●
1000. 62193514 c.6440C>G p.P2147R missense 0.00000940●●●●●●
1001. 62202030 c.462+8G>A splice site 0.00000940●●●●●●
1002. 62200583 c.1006C>A p.P336T missense 0.00000937●●●●●●
1003. 62197200 c.2975T>C p.V992A missense 0.00000936●●●●●●
1004. 62195545 c.4630G>A p.E1544K missense 0.00000933●●●●●●
1005. 62195546 c.4629C>A p.S1543R missense 0.00000933●●●●●●
1006. 62195541 c.4634G>A p.C1545Y missense 0.00000932●●●●●●
1007. 62197197 c.2978C>T p.T993M missense 0.00000932●●●●●●
1008. 62195542 c.4633T>A p.C1545S missense 0.00000931●●●●●●
1009. 62200738 c.851C>A p.A284E missense 0.00000929●●●●●●
1010. 62195590 c.4585A>C p.M1529L missense 0.00000928●●●●●●
1011. 62193066 c.6724dupC p.Leu2242ProfsTer6 frameshift 0.00000928●●●●●●
1012. 62198661 c.2050G>A p.A684T missense 0.00000927●●●●●●
1013. 62202147 c.353G>A p.R118H missense 0.00000925●●●●●●
1014. 62195502 c.4673C>T p.P1558L missense 0.00000924●●●●●●
1015. 62198652 c.2059G>A p.G687S missense 0.00000921●●●●●●
1016. 62195482 c.4693G>A p.A1565T missense 0.00000919●●●●●●
1017. 62200525 c.1064C>T p.A355V missense 0.00000918●●●●●●
1018. 62195475 c.4700G>A p.C1567Y missense 0.00000918●●●●●●
1019. 62195476 c.4699T>G p.C1567G missense 0.00000918●●●●●●
1020. 62200537 c.1052A>G p.Y351C missense 0.00000917●●●●●●
1021. 62202157 c.343T>C p.W115R missense 0.00000916●●●●●●
1022. 62202158 c.342G>T p.E114D missense 0.00000916●●●●●●
1023. 62198645 c.2066G>A p.R689H missense 0.00000914●●●●●●
1024. 62198645 c.2066G>C p.R689P missense 0.00000914●●●●●●
1025. 62200155 c.1286C>G p.T429R missense 0.00000914●●●●●●
1026. 62200748 c.841A>G p.R281G missense 0.00000914●●●●●●
1027. 62197183 c.2992G>A p.A998T missense 0.00000913●●●●●●
1028. 62191387 c.7719C>G p.D2573E missense 0.00000912●●●●●●
1029. 62198640 c.2071G>C p.V691L missense 0.00000911●●●●●●
1030. 62200562 c.1027C>T p.R343W missense 0.00000911●●●●●●
1031. 62193475 c.6479C>T p.A2160V missense 0.00000910●●●●●●
1032. 62196825 c.3350C>T p.A1117V missense 0.00000910●●●●●●
1033. 62193062 c.6728G>A p.R2243H missense 0.00000909●●●●●●
1034. 62196826 c.3349G>A p.A1117T missense 0.00000909●●●●●●
1035. 62200161 c.1280A>G p.D427G missense 0.00000909●●●●●●
1036. 62200162 c.1279G>A p.D427N missense 0.00000909●●●●●●
1037. 62200753 c.836C>G p.P279R missense 0.00000909●●●●●●
1038. 62196111 c.4064A>C p.D1355A missense 0.00000908●●●●●●
1039. 62196837 c.3338T>C p.L1113P missense 0.00000908●●●●●●
1040. 62196853 c.3322C>G p.R1108G missense 0.00000907●●●●●●
1041. 62193446 c.6508A>G p.T2170A missense 0.00000906●●●●●●
1042. 62193458 c.6496G>A p.E2166K missense 0.00000905●●●●●●
1043. 62198619 c.2092C>T p.Q698X nonsense 0.00000905●●●●●●
1044. 62193454 c.6500A>C p.K2167T missense 0.00000904●●●●●●
1045. 62196871 c.3304G>C p.E1102Q missense 0.00000904●●●●●●
1046. 62192944 c.6836+10C>T splice site 0.00000899●●●●●●
1047. 62192949 c.6836+5G>T splice site 0.00000898●●●●●●
1048. 62197158 c.3017G>C p.S1006T missense 0.00000897●●●●●●
1049. 62201846 c.570+11A>C splice site 0.00000896●●●●●●
1050. 62192954 c.6836G>A p.R2279K missense 0.00000895●●●●●●
1051. 62200781 c.808C>G p.Q270E missense 0.00000895●●●●●●
1052. 62200807 c.782C>T p.P261L missense 0.00000894●●●●●●
1053. 62200807 c.782C>G p.P261R missense 0.00000894●●●●●●
1054. 62200784 c.805C>A p.L269M missense 0.00000893●●●●●●
1055. 62200829 c.760G>T p.V254F missense 0.00000893●●●●●●
1056. 62200829 c.760G>A p.V254I missense 0.00000893●●●●●●
1057. 62198610 c.2101C>A p.P701T missense 0.00000892●●●●●●
1058. 62200786 c.803G>T p.G268V missense 0.00000892●●●●●●
1059. 62200787 c.802G>A p.G268R missense 0.00000892●●●●●●
1060. 62200835 c.754T>C p.W252R missense 0.00000892●●●●●●
1061. 62197149 c.3026C>G p.S1009C missense 0.00000891●●●●●●
1062. 62200198 c.1243G>A p.V415I missense 0.00000890●●●●●●
1063. 62197138 c.3037A>C p.T1013P missense 0.00000886●●●●●●
1064. 62200210 c.1231C>G p.L411V missense 0.00000885●●●●●●
1065. 62193054 c.6736A>G p.S2246G missense 0.00000884●●●●●●
1066. 62198228 c.2483G>A p.R828K missense 0.00000879●●●●●●
1067. 62192972 c.6818G>C p.R2273T missense 0.00000878●●●●●●
1068. 62197119 c.3056C>T p.T1019M missense 0.00000878●●●●●●
1069. 62200230 c.1211A>G p.D404G missense 0.00000878●●●●●●
1070. 62198570 c.2141A>C p.H714P missense 0.00000877●●●●●●
1071. 62196283 c.3892C>T p.R1298C missense 0.00000877●●●●●●
1072. 62198571 c.2140C>A p.H714N missense 0.00000877●●●●●●
1073. 62200239 c.1202T>G p.L401R missense 0.00000876●●●●●●
1074. 62200347 c.1094C>G p.T365S missense 0.00000876●●●●●●
1075. 62197105 c.3070G>C p.A1024P missense 0.00000875●●●●●●
1076. 62200246 c.1195T>C p.S399P missense 0.00000874●●●●●●
1077. 62197101 c.3074C>T p.P1025L missense 0.00000874●●●●●●
1078. 62197096 c.3079G>A p.G1027R missense 0.00000873●●●●●●
1079. 62200252 c.1189G>A p.V397I missense 0.00000873●●●●●●
1080. 62196178 c.3997C>G p.R1333G missense 0.00000872●●●●●●
1081. 62197044 c.3131C>T p.A1044V missense 0.00000871●●●●●●
1082. 62198561 c.2150T>A p.L717Q missense 0.00000871●●●●●●
1083. 62196930 c.3245G>A p.S1082N missense 0.00000870●●●●●●
1084. 62197042 c.3133G>C p.A1045P missense 0.00000870●●●●●●
1085. 62198559 c.2152C>T p.H718Y missense 0.00000870●●●●●●
1086. 62192825 c.6837-6C>T splice site 0.00000870●●●●●●
1087. 62192822 c.6837-3C>G splice site 0.00000869●●●●●●
1088. 62193048 c.6742C>T p.Q2248X nonsense 0.00000868●●●●●●
1089. 62196943 c.3232C>T p.L1078F missense 0.00000868●●●●●●
1090. 62196948 c.3227G>A p.R1076Q missense 0.00000868●●●●●●
1091. 62198556 c.2155C>A p.R719S missense 0.00000868●●●●●●
1092. 62200281 c.1160C>T p.P387L missense 0.00000868●●●●●●
1093. 62200302 c.1139C>T p.A380V missense 0.00000868●●●●●●
1094. 62196949 c.3226C>T p.R1076W missense 0.00000867●●●●●●
1095. 62200294 c.1147A>G p.M383V missense 0.00000867●●●●●●
1096. 62196959 c.3216C>G p.D1072E missense 0.00000866●●●●●●
1097. 62197065 c.3110G>T p.G1037V missense 0.00000866●●●●●●
1098. 62198553 c.2158C>T p.L720F missense 0.00000866●●●●●●
1099. 62197057 c.3118G>A p.A1040T missense 0.00000865●●●●●●
1100. 62197059 c.3116G>A p.C1039Y missense 0.00000865●●●●●●
1101. 62193045 c.6745G>A p.A2249T missense 0.00000864●●●●●●
1102. 62196979 c.3196G>A p.G1066R missense 0.00000864●●●●●●
1103. 62196997 c.3178G>A p.D1060N missense 0.00000862●●●●●●
1104. 62196133 c.4042delC p.Gln1348ArgfsTer93 frameshift 0.00000862●●●●●●
1105. 62201860 c.567_568delTG p.Glu190GlyfsTer34 frameshift 0.00000860●●●●●●
1106. 62192808 c.6848T>C p.L2283P missense 0.00000859●●●●●●
1107. 62201859 c.568G>T p.E190X nonsense 0.00000859●●●●●●
1108. 62196138 c.4037A>T p.D1346V missense 0.00000858●●●●●●
1109. 62192429 c.7146+6T>G splice site 0.00000858●●●●●●
1110. 62192800 c.6856C>G p.R2286G missense 0.00000856●●●●●●
1111. 62192432 c.7146+3T>A splice site 0.00000856●●●●●●
1112. 62193035 c.6755G>A p.S2252N missense 0.00000855●●●●●●
1113. 62196148 c.4027T>G p.F1343V missense 0.00000854●●●●●●
1114. 62196180 c.3995G>A p.G1332D missense 0.00000854●●●●●●
1115. 62198513 c.2198G>C p.R733P missense 0.00000854●●●●●●
1116. 62196160 c.4015G>A p.A1339T missense 0.00000852●●●●●●
1117. 62198507 c.2204G>A p.S735N missense 0.00000852●●●●●●
1118. 62193033 c.6757G>A p.E2253K missense 0.00000852●●●●●●
1119. 62196175 c.4000C>T p.R1334X nonsense 0.00000852●●●●●●
1120. 62196183 c.3992C>T p.A1331V missense 0.00000852●●●●●●
1121. 62198505 c.2206C>T p.R736C missense 0.00000851●●●●●●
1122. 62196189 c.3986G>A p.R1329Q missense 0.00000851●●●●●●
1123. 62198237 c.2474G>A p.R825H missense 0.00000851●●●●●●
1124. 62198504 c.2207G>T p.R736L missense 0.00000851●●●●●●
1125. 62198504 c.2207G>A p.R736H missense 0.00000851●●●●●●
1126. 62201865 c.562C>G p.H188D missense 0.00000851●●●●●●
1127. 62192442 c.7139C>T p.A2380V missense 0.00000850●●●●●●
1128. 62193002 c.6788A>G p.K2263R missense 0.00000850●●●●●●
1129. 62196201 c.3974C>G p.T1325R missense 0.00000850●●●●●●
1130. 62198256 c.2455C>T p.P819S missense 0.00000850●●●●●●
1131. 62201961 c.466G>A p.A156T missense 0.00000849●●●●●●
1132. 62196250 c.3925C>T p.P1309S missense 0.00000849●●●●●●
1133. 62198261 c.2450C>A p.T817N missense 0.00000849●●●●●●
1134. 62198499 c.2212G>A p.V738I missense 0.00000849●●●●●●
1135. 62196234 c.3941C>G p.A1314G missense 0.00000848●●●●●●
1136. 62198279 c.2432T>G p.V811G missense 0.00000848●●●●●●
1137. 62198289 c.2422G>A p.V808I missense 0.00000847●●●●●●
1138. 62192788 c.6868G>A p.A2290T missense 0.00000847●●●●●●
1139. 62198297 c.2414C>A p.A805E missense 0.00000846●●●●●●
1140. 62201871 c.556G>A p.A186T missense 0.00000846●●●●●●
1141. 62192787 c.6869C>A p.A2290D missense 0.00000845●●●●●●
1142. 62196253 c.3922G>A p.V1308M missense 0.00000845●●●●●●
1143. 62198485 c.2226C>G p.N742K missense 0.00000845●●●●●●
1144. 62192785 c.6871C>A p.P2291T missense 0.00000844●●●●●●
1145. 62198321 c.2390C>A p.S797Y missense 0.00000844●●●●●●
1146. 62198333 c.2378T>G p.M793R missense 0.00000843●●●●●●
1147. 62198474 c.2237C>T p.T746M missense 0.00000843●●●●●●
1148. 62198476 c.2235C>G p.C745W missense 0.00000843●●●●●●
1149. 62191350 c.7756G>C p.G2586R missense 0.00000842●●●●●●
1150. 62198339 c.2372G>T p.R791L missense 0.00000842●●●●●●
1151. 62198340 c.2371C>T p.R791W missense 0.00000842●●●●●●
1152. 62201951 c.476T>C p.L159P missense 0.00000842●●●●●●
1153. 62198459 c.2252G>A p.S751N missense 0.00000841●●●●●●
1154. 62198465 c.2246_2247delTT p.Ile749SerfsTer54 frameshift 0.00000841●●●●●●
1155. 62192779 c.6877C>G p.P2293A missense 0.00000840●●●●●●
1156. 62198454 c.2257A>C p.I753L missense 0.00000840●●●●●●
1157. 62192150 c.7279A>G p.M2427V missense 0.00000839●●●●●●
1158. 62198354 c.2357C>T p.A786V missense 0.00000839●●●●●●
1159. 62198368 c.2343G>A p.M781I missense 0.00000839●●●●●●
1160. 62192152 c.7277G>A p.R2426H missense 0.00000839●●●●●●
1161. 62192152 c.7277G>T p.R2426L missense 0.00000839●●●●●●
1162. 62198352 c.2359G>T p.G787C missense 0.00000839●●●●●●
1163. 62198369 c.2342T>C p.M781T missense 0.00000839●●●●●●
1164. 62198400 c.2311G>T p.V771F missense 0.00000839●●●●●●
1165. 62198412 c.2299G>C p.A767P missense 0.00000839●●●●●●
1166. 62198436 c.2275G>A p.V759M missense 0.00000839●●●●●●
1167. 62198439 c.2272T>C p.Y758H missense 0.00000839●●●●●●
1168. 62191293 c.7813C>T p.L2605F missense 0.00000838●●●●●●
1169. 62192056 c.7282-6C>T splice site 0.00000838●●●●●●
1170. 62201939 c.488G>C p.R163P missense 0.00000837●●●●●●
1171. 62191299 c.7807G>A p.E2603K missense 0.00000837●●●●●●
1172. 62192470 c.7111C>A p.L2371I missense 0.00000837●●●●●●
1173. 62192472 c.7109C>T p.T2370I missense 0.00000837●●●●●●
1174. 62201888 c.539A>C p.Q180P missense 0.00000837●●●●●●
1175. 62201940 c.487C>G p.R163G missense 0.00000837●●●●●●
1176. 62191307 c.7799_7802delGGGC p.Arg2600ProfsTer7 frameshift 0.00000837●●●●●●
1177. 62192051 c.7282-1G>T essential splice site 0.00000837●●●●●●
1178. 62191310 c.7796C>T p.T2599M missense 0.00000836●●●●●●
1179. 62191331 c.7775A>G p.N2592S missense 0.00000836●●●●●●
1180. 62192286 c.7147-4C>T splice site 0.00000836●●●●●●
1181. 62201927 c.500A>G p.N167S missense 0.00000835●●●●●●
1182. 62191326 c.7780G>A p.V2594M missense 0.00000835●●●●●●
1183. 62192479 c.7102C>A p.P2368T missense 0.00000835●●●●●●
1184. 62201919 c.508_509delCT p.Leu170AspfsTer20 frameshift 0.00000835●●●●●●
1185. 62192273 c.7156C>G p.L2386V missense 0.00000834●●●●●●
1186. 62192264 c.7165C>T p.H2389Y missense 0.00000833●●●●●●
1187. 62192195 c.7234G>A p.E2412K missense 0.00000833●●●●●●
1188. 62192265 c.7164C>A p.D2388E missense 0.00000833●●●●●●
1189. 62191979 c.7353G>C p.R2451S missense 0.00000832●●●●●●
1190. 62191995 c.7337C>G p.T2446R missense 0.00000832●●●●●●
1191. 62192206 c.7223G>A p.R2408Q missense 0.00000832●●●●●●
1192. 62192210 c.7219G>C p.D2407H missense 0.00000832●●●●●●
1193. 62192251 c.7178G>T p.R2393L missense 0.00000832●●●●●●
1194. 62192632 c.6954-5G>A splice site 0.00000832●●●●●●
1195. 62192583 c.6998G>A p.R2333Q missense 0.00000831●●●●●●
1196. 62192585 c.6996C>G p.D2332E missense 0.00000831●●●●●●
1197. 62192716 c.6940G>A p.E2314K missense 0.00000831●●●●●●
1198. 62192571 c.7010T>A p.I2337N missense 0.00000831●●●●●●
1199. 62192230 c.7199G>A p.R2400Q missense 0.00000831●●●●●●
1200. 62192560 c.7021T>G p.C2341G missense 0.00000831●●●●●●
1201. 62192580 c.7001A>G p.H2334R missense 0.00000831●●●●●●
1202. 62192593 c.6988G>A p.E2330K missense 0.00000831●●●●●●
1203. 62192617 c.6964G>T p.V2322F missense 0.00000831●●●●●●
1204. 62192621 c.6960G>C p.K2320N missense 0.00000831●●●●●●
1205. 62192623 c.6958A>C p.K2320Q missense 0.00000831●●●●●●
1206. 62192711 c.6945C>A p.D2315E missense 0.00000831●●●●●●
1207. 62192724 c.6932T>C p.F2311S missense 0.00000831●●●●●●
1208. 62192736 c.6920G>T p.R2307I missense 0.00000831●●●●●●
1209. 62192633 c.6954-6C>G splice site 0.00000831●●●●●●
1210. 62191953 c.7379C>G p.A2460G missense 0.00000830●●●●●●
1211. 62191944 c.7388A>T p.E2463V missense 0.00000830●●●●●●
1212. 62191945 c.7387G>C p.E2463Q missense 0.00000830●●●●●●
1213. 62191935 c.7397C>T p.P2466L missense 0.00000829●●●●●●
1214. 62191849 c.7483G>A p.E2495K missense 0.00000828●●●●●●
1215. 62191899 c.7433G>C p.S2478T missense 0.00000828●●●●●●
1216. 62191918 c.7414G>T p.V2472L missense 0.00000828●●●●●●
1217. 62191880 c.7452C>G p.D2484E missense 0.00000827●●●●●●
1218. 62191885 c.7447A>C p.T2483P missense 0.00000827●●●●●●

* 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.