MZF1 variants in ExAC

MZF1 gene summary
MZF1 variants in

The table below lists the MZF1 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. 59074653 c.991A>G p.I331V missense 0.30638622●●●●●●
2. 59082605 c.152G>A p.R51H missense 0.25720153●●●●●●
3. 59082368 c.389G>A p.R130Q missense 0.06763030●●●●●●
4. 59074080 c.1564T>C p.F522L missense 0.01750302●●●●●●
5. 59082639 c.118C>T p.P40S missense 0.00424113●●●●●●
6. 59074769 c.875T>G p.I292S missense 0.00395725●●●●●●
7. 59080887 c.647C>A p.A216D missense 0.00334951●●●●●●
8. 59074775 c.869G>T p.G290V missense 0.00334698●●●●●●
9. 59082525 c.232C>T p.R78C missense 0.00298653●●●●●●
10. 59074322 c.1322G>C p.R441P missense 0.00278470●●●●●●
11. 59082449 c.308G>A p.R103H missense 0.00225367●●●●●●
12. 59074109 c.1535C>A p.S512Y missense 0.00202144●●●●●●
13. 59082725 c.32G>A p.R11Q missense 0.00192952●●●●●●
14. 59073740 c.1904C>G p.T635R missense 0.00188759●●●●●●
15. 59074247 c.1397C>G p.P466R missense 0.00167785●●●●●●
16. 59074706 c.938G>C p.S313T missense 0.00107285●●●●●●
17. 59080710 c.706G>A p.G236S missense 0.00104222●●●●●●
18. 59082353 c.396+8_396+11delAGTG splice site 0.00090916●●●●●●
19. 59073801 c.1843C>T p.H615Y missense 0.00084948●●●●●●
20. 59073484 c.2160G>C p.Q720H missense 0.00081921●●●●●●
21. 59081806 c.485C>G p.T162S missense 0.00076620●●●●●●
22. 59082375 c.382G>A p.G128R missense 0.00069319●●●●●●
23. 59074247 c.1397C>A p.P466Q missense 0.00062320●●●●●●
24. 59074133 c.1511A>T p.Q504L missense 0.00062024●●●●●●
25. 59074104 c.1540G>C p.G514R missense 0.00061436●●●●●●
26. 59082708 c.49G>A p.E17K missense 0.00054151●●●●●●
27. 59073720 c.1924G>A p.E642K missense 0.00050558●●●●●●
28. 59082435 c.322C>T p.R108W missense 0.00045734●●●●●●
29. 59074226 c.1418dupC p.Ala474GlyfsTer156 frameshift 0.00045086●●●●●●
30. 59073535 c.2109C>A p.H703Q missense 0.00042967●●●●●●
31. 59082450 c.307C>T p.R103C missense 0.00039302●●●●●●
32. 59074256 c.1388delG p.Gly463AlafsTer94 frameshift 0.00038121●●●●●●
33. 59073692 c.1952G>A p.R651Q missense 0.00033663●●●●●●
34. 59074248 c.1396C>T p.P466S missense 0.00031946●●●●●●
35. 59082512 c.245A>G p.Q82R missense 0.00026796●●●●●●
36. 59074416 c.1228C>G p.R410G missense 0.00024234●●●●●●
37. 59074670 c.974G>C p.G325A missense 0.00023648●●●●●●
38. 59082369 c.388C>T p.R130W missense 0.00023539●●●●●●
39. 59074712 c.932T>G p.L311R missense 0.00021747●●●●●●
40. 59081872 c.419A>G p.Q140R missense 0.00021069●●●●●●
41. 59074208 c.1436C>T p.P479L missense 0.00017153●●●●●●
42. 59074211 c.1433C>T p.A478V missense 0.00016989●●●●●●
43. 59074071 c.1573C>T p.R525C missense 0.00016832●●●●●●
44. 59082390 c.367C>T p.R123C missense 0.00016740●●●●●●
45. 59074607 c.1037C>T p.P346L missense 0.00015235●●●●●●
46. 59081770 c.521T>G p.M174R missense 0.00014008●●●●●●
47. 59074556 c.1088A>G p.K363R missense 0.00013279●●●●●●
48. 59074661 c.983C>T p.P328L missense 0.00012838●●●●●●
49. 59073495 c.2149C>G p.R717G missense 0.00012622●●●●●●
50. 59074566 c.1078G>A p.V360I missense 0.00011613●●●●●●
51. 59073737 c.1907A>T p.Q636L missense 0.00010991●●●●●●
52. 59074674 c.970C>G p.R324G missense 0.00010711●●●●●●
53. 59074178 c.1466A>G p.E489G missense 0.00008905●●●●●●
54. 59080640 c.772+4delA splice site 0.00008879●●●●●●
55. 59074118 c.1526G>A p.G509D missense 0.00008862●●●●●●
56. 59074119 c.1525G>C p.G509R missense 0.00008856●●●●●●
57. 59074083 c.1561C>T p.R521C missense 0.00008678●●●●●●
58. 59074265 c.1379G>A p.R460H missense 0.00008164●●●●●●
59. 59082620 c.137G>A p.R46H missense 0.00008124●●●●●●
60. 59082420 c.337G>A p.E113K missense 0.00008000●●●●●●
61. 59081707 c.580+4A>G splice site 0.00007582●●●●●●
62. 59073803 c.1841G>A p.R614H missense 0.00007087●●●●●●
63. 59074841 c.803C>A p.A268E missense 0.00007081●●●●●●
64. 59074878 c.773-7T>C splice site 0.00006927●●●●●●
65. 59074229 c.1415C>T p.P472L missense 0.00006872●●●●●●
66. 59074328 c.1316C>T p.P439L missense 0.00006751●●●●●●
67. 59074835 c.809C>T p.P270L missense 0.00006684●●●●●●
68. 59074448 c.1196T>C p.L399P missense 0.00006472●●●●●●
69. 59082603 c.154T>C p.Y52H missense 0.00006395●●●●●●
70. 59082606 c.151C>T p.R51C missense 0.00006346●●●●●●
71. 59074032 c.1612G>A p.E538K missense 0.00006305●●●●●●
72. 59074702 c.942A>C p.E314D missense 0.00006209●●●●●●
73. 59082444 c.313C>A p.Q105K missense 0.00006124●●●●●●
74. 59074673 c.971G>A p.R324Q missense 0.00005957●●●●●●
75. 59073543 c.2101C>T p.R701C missense 0.00005926●●●●●●
76. 59074239 c.1405G>A p.G469S missense 0.00005797●●●●●●
77. 59073566 c.2078G>C p.R693P missense 0.00005631●●●●●●
78. 59074482 c.1162G>C p.E388Q missense 0.00005526●●●●●●
79. 59074866 c.778G>A p.A260T missense 0.00005511●●●●●●
80. 59082615 c.142C>T p.R48W missense 0.00005433●●●●●●
81. 59073914 c.1730C>A p.A577D missense 0.00005411●●●●●●
82. 59074245 c.1399G>A p.G467S missense 0.00005068●●●●●●
83. 59074809 c.835G>A p.V279I missense 0.00005027●●●●●●
84. 59073557 c.2087T>C p.L696P missense 0.00004937●●●●●●
85. 59073933 c.1711T>A p.C571S missense 0.00004930●●●●●●
86. 59074341 c.1303A>G p.T435A missense 0.00004716●●●●●●
87. 59073888 c.1756C>G p.Q586E missense 0.00004624●●●●●●
88. 59074637 c.1007G>A p.R336H missense 0.00004537●●●●●●
89. 59074010 c.1634A>C p.E545A missense 0.00004397●●●●●●
90. 59080649 c.767C>A p.S256Y missense 0.00004395●●●●●●
91. 59073569 c.2075A>G p.Q692R missense 0.00004352●●●●●●
92. 59074602 c.1042_1044delACT p.Thr348del inframe 0.00004210●●●●●●
93. 59074775 c.869G>C p.G290A missense 0.00003938●●●●●●
94. 59073524 c.2120A>G p.K707R missense 0.00003893●●●●●●
95. 59074329 c.1315C>G p.P439A missense 0.00003853●●●●●●
96. 59073902 c.1742G>A p.R581Q missense 0.00003747●●●●●●
97. 59074386 c.1258G>A p.G420S missense 0.00003720●●●●●●
98. 59073668 c.1976G>A p.G659D missense 0.00003698●●●●●●
99. 59074436 c.1208delA p.Gln403ArgfsTer154 frameshift 0.00003694●●●●●●
100. 59082570 c.187G>T p.A63S missense 0.00003636●●●●●●
101. 59074842 c.802G>A p.A268T missense 0.00003622●●●●●●
102. 59074842 c.802G>T p.A268S missense 0.00003622●●●●●●
103. 59082627 c.130C>T p.R44C missense 0.00003597●●●●●●
104. 59074674 c.970C>T p.R324W missense 0.00003570●●●●●●
105. 59082380 c.377C>T p.P126L missense 0.00003568●●●●●●
106. 59081902 c.397-8C>T splice site 0.00003566●●●●●●
107. 59082548 c.209G>A p.R70H missense 0.00003563●●●●●●
108. 59074257 c.1387G>A p.G463S missense 0.00003550●●●●●●
109. 59082537 c.220C>T p.R74C missense 0.00003542●●●●●●
110. 59082474 c.283G>A p.A95T missense 0.00003459●●●●●●
111. 59082510 c.247A>T p.M83L missense 0.00003451●●●●●●
112. 59074632 c.1012C>G p.P338A missense 0.00003391●●●●●●
113. 59080918 c.616G>A p.E206K missense 0.00003384●●●●●●
114. 59074652 c.992T>A p.I331N missense 0.00003374●●●●●●
115. 59073537 c.2107C>G p.H703D missense 0.00003305●●●●●●
116. 59074754 c.890G>A p.R297H missense 0.00003243●●●●●●
117. 59074590 c.1054delG p.Val352TrpfsTer21 frameshift 0.00003152●●●●●●
118. 59074260 c.1384C>T p.H462Y missense 0.00003130●●●●●●
119. 59073780 c.1864G>A p.E622K missense 0.00003074●●●●●●
120. 59073786 c.1858A>G p.T620A missense 0.00003053●●●●●●
121. 59073806 c.1838C>G p.T613R missense 0.00003037●●●●●●
122. 59074745 c.899G>A p.G300D missense 0.00003009●●●●●●
123. 59073926 c.1718_1719delAG p.Glu573ValfsTer56 frameshift 0.00002976●●●●●●
124. 59074555 c.1089G>T p.K363N missense 0.00002844●●●●●●
125. 59074539 c.1105delA p.Ser369AlafsTer4 frameshift 0.00002810●●●●●●
126. 59074434 c.1210C>T p.L404F missense 0.00002771●●●●●●
127. 59074465 c.1179_1180insGGCCGC p.Phe393_Ser394insGlyArg inframe 0.00002765●●●●●●
128. 59082584 c.173C>G p.P58R missense 0.00002747●●●●●●
129. 59073980 c.1664A>G p.N555S missense 0.00002737●●●●●●
130. 59073626 c.2018G>T p.R673L missense 0.00002686●●●●●●
131. 59082422 c.335C>G p.P112R missense 0.00002673●●●●●●
132. 59082642 c.115G>A p.G39S missense 0.00002658●●●●●●
133. 59082510 c.247A>G p.M83V missense 0.00002588●●●●●●
134. 59073903 c.1741C>T p.R581W missense 0.00002536●●●●●●
135. 59080903 c.631C>T p.L211F missense 0.00002526●●●●●●
136. 59073971 c.1673A>G p.Q558R missense 0.00002485●●●●●●
137. 59080752 c.664G>A p.V222M missense 0.00002475●●●●●●
138. 59081783 c.508C>A p.P170T missense 0.00002472●●●●●●
139. 59074687 c.957C>G p.D319E missense 0.00002440●●●●●●
140. 59074802 c.842G>T p.W281L missense 0.00002372●●●●●●
141. 59073890 c.1754C>T p.T585M missense 0.00002348●●●●●●
142. 59074661 c.983C>G p.P328R missense 0.00002334●●●●●●
143. 59074628 c.1016G>A p.R339K missense 0.00002250●●●●●●
144. 59074622 c.1022G>C p.R341P missense 0.00002239●●●●●●
145. 59074794 c.850G>C p.G284R missense 0.00002238●●●●●●
146. 59073962 c.1682G>T p.R561L missense 0.00002238●●●●●●
147. 59074793 c.851G>T p.G284V missense 0.00002226●●●●●●
148. 59073876 c.1768G>T p.V590L missense 0.00002225●●●●●●
149. 59074791 c.853A>T p.M285L missense 0.00002174●●●●●●
150. 59074788 c.856G>T p.A286S missense 0.00002153●●●●●●
151. 0 c.-40-2delA essential splice site 0.00002117●●●●●●
152. 59073852 c.1792G>A p.A598T missense 0.00002090●●●●●●
153. 59073783 c.1861G>A p.G621S missense 0.00002047●●●●●●
154. 59074274 c.1370A>G p.Q457R missense 0.00001914●●●●●●
155. 59073527 c.2117A>G p.E706G missense 0.00001898●●●●●●
156. 59073680 c.1964G>A p.C655Y missense 0.00001887●●●●●●
157. 59074401 c.1243G>A p.G415S missense 0.00001865●●●●●●
158. 59074393 c.1251T>G p.C417W missense 0.00001860●●●●●●
159. 59074424 c.1220C>G p.T407S missense 0.00001857●●●●●●
160. 59074443 c.1201C>T p.R401C missense 0.00001854●●●●●●
161. 59073600 c.2044G>A p.A682T missense 0.00001852●●●●●●
162. 59074500 c.1144C>T p.R382X nonsense 0.00001841●●●●●●
163. 59073654 c.1990C>G p.Q664E missense 0.00001816●●●●●●
164. 59082614 c.143G>A p.R48Q missense 0.00001812●●●●●●
165. 59082621 c.136C>T p.R46C missense 0.00001806●●●●●●
166. 59082618 c.139T>C p.F47L missense 0.00001803●●●●●●
167. 59082626 c.131G>A p.R44H missense 0.00001800●●●●●●
168. 59073533 c.2111G>A p.R704Q missense 0.00001795●●●●●●
169. 59073630 c.2014C>T p.R672W missense 0.00001793●●●●●●
170. 59080639 c.772+5G>A splice site 0.00001776●●●●●●
171. 59082387 c.370C>T p.R124W missense 0.00001769●●●●●●
172. 59074277 c.1367T>C p.L456P missense 0.00001766●●●●●●
173. 59082416 c.341A>T p.E114V missense 0.00001763●●●●●●
174. 59080956 c.581-3T>C splice site 0.00001738●●●●●●
175. 59082734 c.23C>T p.S8F missense 0.00001706●●●●●●
176. 59082726 c.31C>T p.R11X nonsense 0.00001701●●●●●●
177. 59082670 c.87G>T p.E29D missense 0.00001699●●●●●●
178. 59082684 c.73G>A p.E25K missense 0.00001689●●●●●●
179. 59081867 c.424G>A p.V142I missense 0.00001681●●●●●●
180. 59081869 c.422A>T p.E141V missense 0.00001681●●●●●●
181. 59080891 c.643G>C p.E215Q missense 0.00001680●●●●●●
182. 59074758 c.886T>A p.S296T missense 0.00001672●●●●●●
183. 59080700 c.716G>A p.W239X nonsense 0.00001660●●●●●●
184. 59080763 c.653G>A p.R218K missense 0.00001650●●●●●●
185. 59073932 c.1712G>C p.C571S missense 0.00001627●●●●●●
186. 59073549 c.2095C>G p.H699D missense 0.00001366●●●●●●
187. 59074725 c.919C>T p.L307F missense 0.00001336●●●●●●
188. 59074724 c.920T>C p.L307P missense 0.00001324●●●●●●
189. 59074722 c.922C>G p.P308A missense 0.00001316●●●●●●
190. 59074719 c.925delA p.Ser309AlafsTer3 frameshift 0.00001297●●●●●●
191. 59074715 c.929A>T p.D310V missense 0.00001286●●●●●●
192. 59074694 c.950C>T p.P317L missense 0.00001227●●●●●●
193. 59074691 c.953C>G p.T318R missense 0.00001226●●●●●●
194. 59074691 c.953C>A p.T318K missense 0.00001226●●●●●●
195. 59074680 c.964C>G p.P322A missense 0.00001196●●●●●●
196. 59074296 c.1348C>T p.R450W missense 0.00001179●●●●●●
197. 59073882 c.1762C>T p.L588F missense 0.00001135●●●●●●
198. 59074637 c.1007G>C p.R336P missense 0.00001134●●●●●●
199. 59074632 c.1012C>A p.P338T missense 0.00001130●●●●●●
200. 59074623 c.1021C>T p.R341W missense 0.00001126●●●●●●
201. 59074622 c.1022G>A p.R341Q missense 0.00001119●●●●●●
202. 59073876 c.1768G>C p.V590L missense 0.00001113●●●●●●
203. 59074618 c.1026C>G p.S342R missense 0.00001110●●●●●●
204. 59074308 c.1336G>A p.G446S missense 0.00001060●●●●●●
205. 59073857 c.1787C>G p.P596R missense 0.00001052●●●●●●
206. 59073855 c.1789T>C p.F597L missense 0.00001047●●●●●●
207. 59073776 c.1868A>C p.K623T missense 0.00001024●●●●●●
208. 59073841 c.1803G>C p.E601D missense 0.00001023●●●●●●
209. 59073797 c.1847A>T p.Q616L missense 0.00001015●●●●●●
210. 59073828 c.1816T>C p.F606L missense 0.00001013●●●●●●
211. 59074580 c.1064G>A p.G355D missense 0.00001012●●●●●●
212. 59074584 c.1060delA p.Arg354GlyfsTer19 frameshift 0.00001011●●●●●●
213. 59073810 c.1834C>T p.L612F missense 0.00001011●●●●●●
214. 59073801 c.1843C>A p.H615N missense 0.00001011●●●●●●
215. 59074581 c.1063G>A p.G355S missense 0.00001011●●●●●●
216. 59073800 c.1844A>G p.H615R missense 0.00001011●●●●●●
217. 59073729 c.1915C>T p.R639W missense 0.00001002●●●●●●
218. 59073579 c.2065G>A p.A689T missense 0.00000999●●●●●●
219. 59074319 c.1325G>T p.C442F missense 0.00000992●●●●●●
220. 59073722 c.1922C>T p.T641I missense 0.00000986●●●●●●
221. 59074570 c.1074C>A p.C358X nonsense 0.00000981●●●●●●
222. 59073710 c.1934G>T p.R645L missense 0.00000975●●●●●●
223. 59073584 c.2060G>A p.G687D missense 0.00000974●●●●●●
224. 59073713 c.1931delA p.Gln644ArgfsTer118 frameshift 0.00000973●●●●●●
225. 59074326 c.1318T>C p.F440L missense 0.00000968●●●●●●
226. 59073698 c.1946G>A p.G649D missense 0.00000964●●●●●●
227. 59074329 c.1315C>A p.P439T missense 0.00000963●●●●●●
228. 59074562 c.1082G>C p.C361S missense 0.00000961●●●●●●
229. 59074335 c.1309G>T p.E437X nonsense 0.00000955●●●●●●
230. 59074338 c.1306G>C p.G436R missense 0.00000948●●●●●●
231. 59073681 c.1963T>C p.C655R missense 0.00000946●●●●●●
232. 59073680 c.1964G>C p.C655S missense 0.00000944●●●●●●
233. 59073593 c.2051C>T p.P684L missense 0.00000941●●●●●●
234. 59074542 c.1102C>T p.R368C missense 0.00000937●●●●●●
235. 59074356 c.1288C>T p.H430Y missense 0.00000935●●●●●●
236. 59074354 c.1290T>A p.H430Q missense 0.00000935●●●●●●
237. 59074361 c.1283A>G p.E428G missense 0.00000933●●●●●●
238. 59074367 c.1277G>T p.R426L missense 0.00000933●●●●●●
239. 59074379 c.1265T>C p.V422A missense 0.00000931●●●●●●
240. 59074406 c.1238T>C p.V413A missense 0.00000931●●●●●●
241. 59074370 c.1274C>A p.A425E missense 0.00000931●●●●●●
242. 59074394 c.1250G>C p.C417S missense 0.00000930●●●●●●
243. 59074388 c.1256A>C p.Q419P missense 0.00000930●●●●●●
244. 59073673 c.1971G>C p.E657D missense 0.00000930●●●●●●
245. 59073672 c.1972T>C p.C658R missense 0.00000928●●●●●●
246. 59074521 c.1123C>G p.Q375E missense 0.00000926●●●●●●
247. 59074445 c.1199T>G p.L400R missense 0.00000926●●●●●●
248. 59082361 c.396G>A p.W132X nonsense 0.00000926●●●●●●
249. 59073669 c.1975G>A p.G659S missense 0.00000925●●●●●●
250. 59074473 c.1171delC p.Arg391AlafsTer166 frameshift 0.00000924●●●●●●
251. 59073601 c.2043C>G p.Y681X nonsense 0.00000922●●●●●●
252. 59074488 c.1156T>C p.C386R missense 0.00000920●●●●●●
253. 59074487 c.1157G>A p.C386Y missense 0.00000920●●●●●●
254. 59074488 c.1156T>G p.C386G missense 0.00000920●●●●●●
255. 59074496 c.1148C>T p.P383L missense 0.00000919●●●●●●
256. 59074493 c.1151T>C p.F384S missense 0.00000919●●●●●●
257. 59082584 c.173C>T p.P58L missense 0.00000916●●●●●●
258. 59082594 c.163G>A p.A55T missense 0.00000916●●●●●●
259. 59082593 c.164C>A p.A55D missense 0.00000915●●●●●●
260. 59082602 c.155A>G p.Y52C missense 0.00000914●●●●●●
261. 59073652 c.1992delG p.Gln664HisfsTer98 frameshift 0.00000909●●●●●●
262. 59082614 c.143G>T p.R48L missense 0.00000906●●●●●●
263. 59073647 c.1997C>G p.A666G missense 0.00000906●●●●●●
264. 59082561 c.196C>T p.R66X nonsense 0.00000904●●●●●●
265. 59082560 c.197G>A p.R66Q missense 0.00000904●●●●●●
266. 59082561 c.196C>G p.R66G missense 0.00000904●●●●●●
267. 59082623 c.134T>C p.L45P missense 0.00000902●●●●●●
268. 59082557 c.200_201delAG p.Glu67AlafsTer32 frameshift 0.00000900●●●●●●
269. 59082558 c.199G>A p.E67K missense 0.00000900●●●●●●
270. 59073638 c.2006C>G p.T669S missense 0.00000899●●●●●●
271. 59082627 c.130C>A p.R44S missense 0.00000899●●●●●●
272. 59082627 c.130C>G p.R44G missense 0.00000899●●●●●●
273. 59073632 c.2012A>C p.H671P missense 0.00000896●●●●●●
274. 59082425 c.332G>A p.S111N missense 0.00000895●●●●●●
275. 59073617 c.2027C>T p.T676M missense 0.00000895●●●●●●
276. 59073631 c.2013C>G p.H671Q missense 0.00000895●●●●●●
277. 59082633 c.124G>A p.A42T missense 0.00000895●●●●●●
278. 59082378 c.379G>A p.G127S missense 0.00000895●●●●●●
279. 59082428 c.329G>A p.G110D missense 0.00000893●●●●●●
280. 59082635 c.122A>C p.E41A missense 0.00000893●●●●●●
281. 59082551 c.206G>A p.C69Y missense 0.00000892●●●●●●
282. 59082381 c.376C>A p.P126T missense 0.00000891●●●●●●
283. 59082549 c.208C>T p.R70C missense 0.00000890●●●●●●
284. 59080636 c.772+8A>C splice site 0.00000890●●●●●●
285. 59082386 c.371G>A p.R124Q missense 0.00000886●●●●●●
286. 59082642 c.115G>C p.G39R missense 0.00000886●●●●●●
287. 59081898 c.397-4C>T splice site 0.00000884●●●●●●
288. 59082536 c.221G>A p.R74H missense 0.00000881●●●●●●
289. 59080646 c.770C>T p.P257L missense 0.00000881●●●●●●
290. 59080649 c.767C>T p.S256F missense 0.00000879●●●●●●
291. 59082434 c.323G>A p.R108Q missense 0.00000879●●●●●●
292. 59080653 c.763T>C p.F255L missense 0.00000876●●●●●●
293. 59082441 c.316G>T p.G106W missense 0.00000876●●●●●●
294. 59082402 c.355G>T p.V119L missense 0.00000876●●●●●●
295. 59082524 c.233G>A p.R78H missense 0.00000873●●●●●●
296. 59082454 c.303G>T p.Q101H missense 0.00000872●●●●●●
297. 59082452 c.305C>A p.A102D missense 0.00000872●●●●●●
298. 59082522 c.235T>C p.S79P missense 0.00000870●●●●●●
299. 59082464 c.293delC p.Pro98LeufsTer21 frameshift 0.00000869●●●●●●
300. 59082462 c.295G>A p.E99K missense 0.00000869●●●●●●
301. 59082464 c.293_294delCT p.Pro98ArgfsTer59 frameshift 0.00000869●●●●●●
302. 59080955 c.581-2A>G essential splice site 0.00000868●●●●●●
303. 59082464 c.293C>A p.P98H missense 0.00000868●●●●●●
304. 59082752 c.5G>T p.R2M missense 0.00000867●●●●●●
305. 59082516 c.241G>T p.E81X nonsense 0.00000867●●●●●●
306. 59082476 c.281delG p.Gly94AlafsTer25 frameshift 0.00000864●●●●●●
307. 59080664 c.752C>G p.A251G missense 0.00000862●●●●●●
308. 59082746 c.11C>T p.A4V missense 0.00000862●●●●●●
309. 59082663 c.94G>A p.E32K missense 0.00000857●●●●●●
310. 59080668 c.748G>A p.E250K missense 0.00000856●●●●●●
311. 59081882 c.409G>A p.V137M missense 0.00000854●●●●●●
312. 59082666 c.91G>A p.G31S missense 0.00000853●●●●●●
313. 59082732 c.25C>G p.P9A missense 0.00000852●●●●●●
314. 59080920 c.614A>G p.Q205R missense 0.00000847●●●●●●
315. 59082711 c.46G>A p.D16N missense 0.00000847●●●●●●
316. 59080918 c.616G>C p.E206Q missense 0.00000846●●●●●●
317. 59080912 c.622G>A p.V208I missense 0.00000844●●●●●●
318. 59081713 c.578C>T p.S193L missense 0.00000838●●●●●●
319. 59081864 c.427C>A p.L143I missense 0.00000837●●●●●●
320. 59081717 c.574G>T p.D192Y missense 0.00000836●●●●●●
321. 59081863 c.428T>C p.L143P missense 0.00000836●●●●●●
322. 59080689 c.727C>T p.P243S missense 0.00000835●●●●●●
323. 59080703 c.713C>T p.S238L missense 0.00000829●●●●●●
324. 59081731 c.560C>G p.S187X nonsense 0.00000829●●●●●●
325. 59081735 c.556G>A p.E186K missense 0.00000827●●●●●●
326. 59081736 c.555G>C p.E185D missense 0.00000827●●●●●●
327. 59081842 c.449C>G p.S150C missense 0.00000826●●●●●●
328. 59081744 c.547G>A p.V183M missense 0.00000826●●●●●●
329. 59080763 c.653G>C p.R218T missense 0.00000825●●●●●●
330. 59080740 c.676A>C p.I226L missense 0.00000825●●●●●●
331. 59081836 c.455T>C p.F152S missense 0.00000825●●●●●●
332. 59080752 c.664G>C p.V222L missense 0.00000825●●●●●●
333. 59080758 c.658G>A p.G220R missense 0.00000825●●●●●●
334. 59080740 c.676A>G p.I226V missense 0.00000825●●●●●●
335. 59081752 c.539G>A p.G180D missense 0.00000825●●●●●●
336. 59081820 c.471A>C p.E157D missense 0.00000824●●●●●●
337. 59081812 c.479C>T p.P160L missense 0.00000824●●●●●●
338. 59081762 c.529T>G p.S177A missense 0.00000824●●●●●●
339. 59081765 c.526G>A p.E176K missense 0.00000824●●●●●●
340. 59081783 c.508C>T p.P170S missense 0.00000824●●●●●●
341. 59081794 c.497G>T p.G166V missense 0.00000824●●●●●●
342. 59081774 c.517A>T p.T173S 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.