MYO6 missense variants in ExAC

MYO6 gene summary
MYO6 variants in

The table below lists the MYO6 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. 76564897 c.1120T>C p.Y374H missense 0.01361437●●●●●●
2. 76624538 c.3667G>A p.D1223N missense 0.00995730●●●●●●
3. 76624695 c.3824A>G p.Y1275C missense 0.00535155●●●●●●
4. 76596587 c.2534C>T p.T845I missense 0.00242590●●●●●●
5. 76558195 c.1025C>T p.A342V missense 0.00159081●●●●●●
6. 76599951 c.2836C>T p.R946C missense 0.00091438●●●●●●
7. 76623903 c.3563A>G p.K1188R missense 0.00070841●●●●●●
8. 76564921 c.1144G>A p.D382N missense 0.00060070●●●●●●
9. 76596688 c.2635G>A p.D879N missense 0.00052849●●●●●●
10. 76554672 c.875T>C p.L292S missense 0.00047160●●●●●●
11. 76550395 c.647A>T p.E216V missense 0.00045975●●●●●●
12. 76542642 c.475G>A p.E159K missense 0.00034730●●●●●●
13. 76558200 c.1030G>A p.V344I missense 0.00033795●●●●●●
14. 76527356 c.92T>C p.I31T missense 0.00029660●●●●●●
15. 76623870 c.3530G>A p.R1177H missense 0.00022241●●●●●●
16. 76623869 c.3529C>T p.R1177C missense 0.00018947●●●●●●
17. 76608128 c.3176G>C p.R1059T missense 0.00018176●●●●●●
18. 76599787 c.2672C>T p.T891M missense 0.00014219●●●●●●
19. 76527290 c.26C>T p.A9V missense 0.00013183●●●●●●
20. 76576663 c.1785G>T p.E595D missense 0.00012411●●●●●●
21. 76527316 c.52A>G p.M18V missense 0.00012358●●●●●●
22. 76599955 c.2840G>A p.R947Q missense 0.00010817●●●●●●
23. 76618299 c.3367A>G p.N1123D missense 0.00009893●●●●●●
24. 76538258 c.189T>G p.C63W missense 0.00009111●●●●●●
25. 76540142 c.271G>A p.A91T missense 0.00008255●●●●●●
26. 76596669 c.2616G>T p.K872N missense 0.00007428●●●●●●
27. 76572397 c.1631C>T p.T544I missense 0.00007419●●●●●●
28. 76591461 c.2342T>A p.V781D missense 0.00007414●●●●●●
29. 76599933 c.2818C>T p.R940C missense 0.00006644●●●●●●
30. 76624662 c.3791A>G p.N1264S missense 0.00005818●●●●●●
31. 76595810 c.2506C>T p.R836C missense 0.00005285●●●●●●
32. 76564957 c.1180G>A p.V394I missense 0.00005060●●●●●●
33. 76617414 c.3269A>G p.N1090S missense 0.00004962●●●●●●
34. 76582979 c.2039T>C p.F680S missense 0.00004961●●●●●●
35. 76602272 c.2972G>T p.R991L missense 0.00004950●●●●●●
36. 76576316 c.1748C>T p.A583V missense 0.00004945●●●●●●
37. 76532544 c.163A>G p.S55G missense 0.00004944●●●●●●
38. 76589566 c.2107G>C p.G703R missense 0.00004942●●●●●●
39. 76595776 c.2472T>G p.I824M missense 0.00004247●●●●●●
40. 76604974 c.3134C>T p.T1045I missense 0.00004157●●●●●●
41. 76550343 c.595C>T p.R199C missense 0.00004149●●●●●●
42. 76576650 c.1772C>T p.T591I missense 0.00004142●●●●●●
43. 76624635 c.3764G>A p.R1255H missense 0.00004132●●●●●●
44. 76602329 c.3029G>A p.R1010Q missense 0.00004129●●●●●●
45. 76596605 c.2552A>C p.D851A missense 0.00004124●●●●●●
46. 76617380 c.3235A>G p.K1079E missense 0.00004124●●●●●●
47. 76570755 c.1489C>G p.Q497E missense 0.00004123●●●●●●
48. 76624589 c.3718C>T p.R1240C missense 0.00004121●●●●●●
49. 76591484 c.2365A>G p.T789A missense 0.00004118●●●●●●
50. 76564925 c.1148A>G p.Q383R missense 0.00003418●●●●●●
51. 76624685 c.3814C>T p.R1272W missense 0.00003395●●●●●●
52. 76599780 c.2665A>G p.M889V missense 0.00003350●●●●●●
53. 76601016 c.2939G>A p.R980H missense 0.00003347●●●●●●
54. 76551034 c.755G>A p.C252Y missense 0.00003331●●●●●●
55. 76618311 c.3379G>A p.E1127K missense 0.00003298●●●●●●
56. 76558135 c.965C>T p.T322M missense 0.00003297●●●●●●
57. 76624583 c.3712C>G p.R1238G missense 0.00003297●●●●●●
58. 76572424 c.1658A>T p.D553V missense 0.00003296●●●●●●
59. 76532521 c.140A>G p.Q47R missense 0.00003296●●●●●●
60. 76527343 c.79G>A p.D27N missense 0.00003295●●●●●●
61. 76623854 c.3514C>T p.R1172C missense 0.00003295●●●●●●
62. 76527307 c.43G>A p.G15R missense 0.00003295●●●●●●
63. 76600973 c.2896C>G p.Q966E missense 0.00003201●●●●●●
64. 76624715 c.3844A>G p.S1282G missense 0.00002751●●●●●●
65. 76564937 c.1160G>A p.R387Q missense 0.00002545●●●●●●
66. 76576805 c.1927G>A p.V643M missense 0.00002543●●●●●●
67. 76602404 c.3104G>A p.R1035Q missense 0.00002517●●●●●●
68. 76602398 c.3098C>T p.A1033V missense 0.00002507●●●●●●
69. 76599813 c.2698G>A p.D900N missense 0.00002499●●●●●●
70. 76550344 c.596G>A p.R199H missense 0.00002489●●●●●●
71. 76576755 c.1877A>T p.N626I missense 0.00002488●●●●●●
72. 76621415 c.3439C>T p.P1147S missense 0.00002486●●●●●●
73. 76576731 c.1853G>A p.R618Q missense 0.00002484●●●●●●
74. 76545650 c.530A>T p.D177V missense 0.00002483●●●●●●
75. 76602364 c.3064G>A p.E1022K missense 0.00002482●●●●●●
76. 76582960 c.2020A>G p.K674E missense 0.00002481●●●●●●
77. 76596566 c.2513A>G p.D838G missense 0.00002478●●●●●●
78. 76602328 c.3028C>T p.R1010W missense 0.00002477●●●●●●
79. 76602320 c.3020G>A p.R1007H missense 0.00002477●●●●●●
80. 76624626 c.3755T>A p.I1252N missense 0.00002476●●●●●●
81. 76602263 c.2963A>C p.Q988P missense 0.00002475●●●●●●
82. 76623818 c.3478C>T p.R1160W missense 0.00002474●●●●●●
83. 76572393 c.1627T>C p.F543L missense 0.00002473●●●●●●
84. 76527314 c.50A>G p.Q17R missense 0.00002472●●●●●●
85. 76527325 c.61A>T p.I21F missense 0.00002472●●●●●●
86. 76624575 c.3704G>T p.G1235V missense 0.00002472●●●●●●
87. 76623977 c.3637C>T p.P1213S missense 0.00002472●●●●●●
88. 76623894 c.3554C>G p.P1185R missense 0.00002471●●●●●●
89. 76591476 c.2357A>G p.H786R missense 0.00002471●●●●●●
90. 76591494 c.2375G>T p.R792L missense 0.00002471●●●●●●
91. 76623846 c.3506G>A p.R1169H missense 0.00002471●●●●●●
92. 76623947 c.3607G>T p.A1203S missense 0.00002471●●●●●●
93. 76568688 c.1451T>G p.F484C missense 0.00002063●●●●●●
94. 76568666 c.1429A>G p.N477D missense 0.00002021●●●●●●
95. 76564886 c.1109A>G p.Q370R missense 0.00001832●●●●●●
96. 76599858 c.2743A>G p.K915E missense 0.00001812●●●●●●
97. 76580395 c.1976G>A p.R659Q missense 0.00001715●●●●●●
98. 76624682 c.3811G>T p.A1271S missense 0.00001692●●●●●●
99. 76599979 c.2864G>A p.R955Q missense 0.00001676●●●●●●
100. 76602403 c.3103C>T p.R1035W missense 0.00001675●●●●●●
101. 76576781 c.1903G>A p.A635T missense 0.00001666●●●●●●
102. 76599811 c.2696A>G p.Y899C missense 0.00001666●●●●●●
103. 76551020 c.741C>G p.I247M missense 0.00001665●●●●●●
104. 76572341 c.1575A>G p.I525M missense 0.00001664●●●●●●
105. 76599945 c.2830G>A p.E944K missense 0.00001663●●●●●●
106. 76550998 c.719A>G p.K240R missense 0.00001663●●●●●●
107. 76599951 c.2836C>A p.R946S missense 0.00001663●●●●●●
108. 76604977 c.3137C>T p.P1046L missense 0.00001663●●●●●●
109. 76599828 c.2713A>G p.S905G missense 0.00001663●●●●●●
110. 76599879 c.2764G>A p.E922K missense 0.00001661●●●●●●
111. 76621394 c.3418G>A p.A1140T missense 0.00001661●●●●●●
112. 76599862 c.2747A>C p.K916T missense 0.00001660●●●●●●
113. 76550350 c.602A>G p.N201S missense 0.00001660●●●●●●
114. 76599922 c.2807A>G p.E936G missense 0.00001660●●●●●●
115. 76599898 c.2783G>A p.R928H missense 0.00001660●●●●●●
116. 76599913 c.2798T>G p.M933R missense 0.00001660●●●●●●
117. 76542567 c.400G>A p.A134T missense 0.00001659●●●●●●
118. 76572355 c.1589A>T p.D530V missense 0.00001658●●●●●●
119. 76583000 c.2060C>T p.S687F missense 0.00001657●●●●●●
120. 76576745 c.1867T>G p.S623A missense 0.00001657●●●●●●
121. 76554681 c.884G>A p.R295H missense 0.00001656●●●●●●
122. 76554683 c.886A>G p.K296E missense 0.00001656●●●●●●
123. 76576730 c.1852C>T p.R618W missense 0.00001656●●●●●●
124. 76538266 c.197T>C p.M66T missense 0.00001655●●●●●●
125. 76554662 c.865A>G p.K289E missense 0.00001654●●●●●●
126. 76602357 c.3057T>G p.S1019R missense 0.00001654●●●●●●
127. 76572366 c.1600C>T p.R534C missense 0.00001654●●●●●●
128. 76538316 c.247A>G p.K83E missense 0.00001654●●●●●●
129. 76554624 c.827G>A p.R276Q missense 0.00001653●●●●●●
130. 76538299 c.230T>C p.I77T missense 0.00001653●●●●●●
131. 76540259 c.388A>G p.I130V missense 0.00001653●●●●●●
132. 76602335 c.3035T>C p.L1012P missense 0.00001652●●●●●●
133. 76608123 c.3171G>C p.L1057F missense 0.00001652●●●●●●
134. 76602300 c.3000A>T p.Q1000H missense 0.00001650●●●●●●
135. 76617360 c.3215C>G p.T1072S missense 0.00001650●●●●●●
136. 76540174 c.303T>G p.F101L missense 0.00001650●●●●●●
137. 76558092 c.922G>C p.D308H missense 0.00001649●●●●●●
138. 76618317 c.3385C>T p.R1129C missense 0.00001649●●●●●●
139. 76558166 c.996A>T p.E332D missense 0.00001649●●●●●●
140. 76589650 c.2191C>T p.P731S missense 0.00001649●●●●●●
141. 76618318 c.3386G>A p.R1129H missense 0.00001649●●●●●●
142. 76558219 c.1049T>C p.I350T missense 0.00001649●●●●●●
143. 76618270 c.3338A>T p.H1113L missense 0.00001649●●●●●●
144. 76596614 c.2561A>G p.N854S missense 0.00001649●●●●●●
145. 76572394 c.1628T>G p.F543C missense 0.00001649●●●●●●
146. 76617381 c.3236A>G p.K1079R missense 0.00001649●●●●●●
147. 76527283 c.19G>A p.V7I missense 0.00001648●●●●●●
148. 76589618 c.2159A>T p.K720M missense 0.00001648●●●●●●
149. 76566848 c.1258C>T p.R420C missense 0.00001648●●●●●●
150. 76532536 c.155A>G p.E52G missense 0.00001648●●●●●●
151. 76566960 c.1370T>C p.I457T missense 0.00001648●●●●●●
152. 76591428 c.2309T>C p.M770T missense 0.00001648●●●●●●
153. 76576288 c.1720G>A p.D574N missense 0.00001648●●●●●●
154. 76572435 c.1669C>A p.L557I missense 0.00001648●●●●●●
155. 76623845 c.3505C>T p.R1169C missense 0.00001648●●●●●●
156. 76589618 c.2159A>G p.K720R missense 0.00001648●●●●●●
157. 76558186 c.1016G>A p.R339Q missense 0.00001648●●●●●●
158. 76624590 c.3719G>A p.R1240H missense 0.00001648●●●●●●
159. 76527367 c.103A>T p.N35Y missense 0.00001648●●●●●●
160. 76589615 c.2156A>C p.K719T missense 0.00001647●●●●●●
161. 76623905 c.3565A>G p.K1189E missense 0.00001647●●●●●●
162. 76564856 c.1079G>A p.G360D missense 0.00001207●●●●●●
163. 76600958 c.2881G>A p.E961K missense 0.00001151●●●●●●
164. 76601015 c.2938C>T p.R980C missense 0.00001111●●●●●●
165. 76568699 c.1462A>G p.I488V missense 0.00001066●●●●●●
166. 76600979 c.2902G>A p.E968K missense 0.00001050●●●●●●
167. 76568684 c.1447T>A p.F483I missense 0.00001025●●●●●●
168. 76568661 c.1424A>G p.Y475C missense 0.00001014●●●●●●
169. 76564883 c.1106C>T p.A369V missense 0.00000929●●●●●●
170. 76624719 c.3848T>C p.L1283P missense 0.00000922●●●●●●
171. 76595732 c.2428A>G p.I810V missense 0.00000908●●●●●●
172. 76589793 c.2242G>A p.D748N missense 0.00000889●●●●●●
173. 76576817 c.1939T>G p.F647V missense 0.00000888●●●●●●
174. 76624703 c.3832G>A p.A1278T missense 0.00000877●●●●●●
175. 76580367 c.1948C>G p.Q650E missense 0.00000874●●●●●●
176. 76564998 c.1221A>G p.I407M missense 0.00000863●●●●●●
177. 76550386 c.638A>G p.H213R missense 0.00000862●●●●●●
178. 76564921 c.1144G>C p.D382H missense 0.00000858●●●●●●
179. 76564985 c.1208A>C p.K403T missense 0.00000852●●●●●●
180. 76624689 c.3818C>T p.P1273L missense 0.00000852●●●●●●
181. 76564979 c.1202G>C p.G401A missense 0.00000849●●●●●●
182. 76564979 c.1202G>A p.G401D missense 0.00000849●●●●●●
183. 76595771 c.2467A>G p.T823A missense 0.00000849●●●●●●
184. 76564970 c.1193C>T p.T398I missense 0.00000846●●●●●●
185. 76564951 c.1174A>G p.T392A missense 0.00000844●●●●●●
186. 76602406 c.3106A>G p.R1036G missense 0.00000839●●●●●●
187. 76576795 c.1917C>G p.S639R missense 0.00000839●●●●●●
188. 76550940 c.661G>T p.V221F missense 0.00000836●●●●●●
189. 76599975 c.2860A>G p.R954G missense 0.00000836●●●●●●
190. 76599792 c.2677G>A p.E893K missense 0.00000835●●●●●●
191. 76599969 c.2854G>A p.E952K missense 0.00000834●●●●●●
192. 76624668 c.3797T>C p.I1266T missense 0.00000834●●●●●●
193. 76599802 c.2687A>G p.Q896R missense 0.00000834●●●●●●
194. 76551054 c.775A>T p.I259F missense 0.00000834●●●●●●
195. 76599964 c.2849A>G p.E950G missense 0.00000833●●●●●●
196. 76551039 c.760G>C p.G254R missense 0.00000833●●●●●●
197. 76576782 c.1904C>G p.A635G missense 0.00000833●●●●●●
198. 76550995 c.716G>A p.G239D missense 0.00000832●●●●●●
199. 76550962 c.683A>G p.Y228C missense 0.00000832●●●●●●
200. 76551013 c.734A>T p.Y245F missense 0.00000832●●●●●●
201. 76550967 c.688C>A p.L230I missense 0.00000832●●●●●●
202. 76582927 c.1987G>A p.A663T missense 0.00000831●●●●●●
203. 76583009 c.2069A>G p.Q690R missense 0.00000831●●●●●●
204. 76602386 c.3086A>G p.Q1029R missense 0.00000831●●●●●●
205. 76542562 c.395A>T p.D132V missense 0.00000831●●●●●●
206. 76582925 c.1985G>A p.G662E missense 0.00000831●●●●●●
207. 76599952 c.2837G>A p.R946H missense 0.00000831●●●●●●
208. 76550306 c.558C>A p.N186K missense 0.00000831●●●●●●
209. 76599933 c.2818C>A p.R940S missense 0.00000831●●●●●●
210. 76550308 c.560C>T p.P187L missense 0.00000831●●●●●●
211. 76550335 c.587A>T p.K196M missense 0.00000830●●●●●●
212. 76599919 c.2804A>G p.K935R missense 0.00000830●●●●●●
213. 76582930 c.1990A>T p.S664C missense 0.00000830●●●●●●
214. 76576756 c.1878T>A p.N626K missense 0.00000830●●●●●●
215. 76599897 c.2782C>T p.R928C missense 0.00000830●●●●●●
216. 76576752 c.1874C>A p.T625K missense 0.00000830●●●●●●
217. 76599868 c.2753A>G p.Q918R missense 0.00000830●●●●●●
218. 76599890 c.2775G>C p.R925S missense 0.00000830●●●●●●
219. 76576755 c.1877A>G p.N626S missense 0.00000829●●●●●●
220. 76621408 c.3432C>G p.N1144K missense 0.00000829●●●●●●
221. 76538260 c.191C>T p.S64L missense 0.00000828●●●●●●
222. 76623780 c.3440C>T p.P1147L missense 0.00000828●●●●●●
223. 76545651 c.531T>A p.D177E missense 0.00000828●●●●●●
224. 76576729 c.1851A>G p.I617M missense 0.00000828●●●●●●
225. 76538268 c.199T>C p.Y67H missense 0.00000828●●●●●●
226. 76545657 c.537T>A p.D179E missense 0.00000828●●●●●●
227. 76617327 c.3182C>G p.P1061R missense 0.00000828●●●●●●
228. 76618216 c.3284T>C p.I1095T missense 0.00000828●●●●●●
229. 76545635 c.515A>G p.Y172C missense 0.00000828●●●●●●
230. 76538327 c.258T>G p.I86M missense 0.00000828●●●●●●
231. 76582940 c.2000G>A p.R667H missense 0.00000828●●●●●●
232. 76554680 c.883C>T p.R295C missense 0.00000828●●●●●●
233. 76582970 c.2030G>T p.S677I missense 0.00000827●●●●●●
234. 76542585 c.418G>T p.V140L missense 0.00000827●●●●●●
235. 76618228 c.3296C>G p.A1099G missense 0.00000827●●●●●●
236. 76602353 c.3053A>G p.Q1018R missense 0.00000827●●●●●●
237. 76540262 c.391G>C p.A131P missense 0.00000827●●●●●●
238. 76538326 c.257T>C p.I86T missense 0.00000827●●●●●●
239. 76554665 c.868C>A p.Q290K missense 0.00000827●●●●●●
240. 76582970 c.2030G>A p.S677N missense 0.00000827●●●●●●
241. 76538308 c.239G>A p.R80Q missense 0.00000827●●●●●●
242. 76576704 c.1826T>C p.I609T missense 0.00000827●●●●●●
243. 76554626 c.829G>C p.G277R missense 0.00000827●●●●●●
244. 76554666 c.869A>T p.Q290L missense 0.00000827●●●●●●
245. 76538283 c.214A>G p.T72A missense 0.00000827●●●●●●
246. 76582978 c.2038T>C p.F680L missense 0.00000827●●●●●●
247. 76617330 c.3185C>G p.A1062G missense 0.00000827●●●●●●
248. 76576705 c.1827A>G p.I609M missense 0.00000827●●●●●●
249. 76538315 c.246T>G p.S82R missense 0.00000827●●●●●●
250. 76554647 c.850A>G p.N284D missense 0.00000827●●●●●●
251. 76566815 c.1225G>A p.V409I missense 0.00000827●●●●●●
252. 76618221 c.3289C>T p.L1097F missense 0.00000827●●●●●●
253. 76617415 c.3270T>A p.N1090K missense 0.00000827●●●●●●
254. 76538286 c.217C>G p.L73V missense 0.00000827●●●●●●
255. 76572367 c.1601G>A p.R534H missense 0.00000827●●●●●●
256. 76582985 c.2045G>T p.G682V missense 0.00000827●●●●●●
257. 76576715 c.1837A>G p.R613G missense 0.00000827●●●●●●
258. 76608095 c.3143A>G p.Q1048R missense 0.00000826●●●●●●
259. 76608128 c.3176G>A p.R1059K missense 0.00000826●●●●●●
260. 76596686 c.2633T>C p.I878T missense 0.00000826●●●●●●
261. 76608098 c.3146T>C p.M1049T missense 0.00000826●●●●●●
262. 76602328 c.3028C>G p.R1010G missense 0.00000826●●●●●●
263. 76542606 c.439A>G p.I147V missense 0.00000826●●●●●●
264. 76596562 c.2509A>G p.I837V missense 0.00000826●●●●●●
265. 76608112 c.3160T>C p.S1054P missense 0.00000826●●●●●●
266. 76540251 c.380T>C p.V127A missense 0.00000826●●●●●●
267. 76596697 c.2644A>G p.M882V missense 0.00000826●●●●●●
268. 76623797 c.3457G>A p.A1153T missense 0.00000826●●●●●●
269. 76558237 c.1067G>A p.G356D missense 0.00000826●●●●●●
270. 76602343 c.3043A>G p.R1015G missense 0.00000826●●●●●●
271. 76596685 c.2632A>G p.I878V missense 0.00000826●●●●●●
272. 76602319 c.3019C>T p.R1007C missense 0.00000825●●●●●●
273. 76602262 c.2962C>G p.Q988E missense 0.00000825●●●●●●
274. 76570740 c.1474G>A p.E492K missense 0.00000825●●●●●●
275. 76623806 c.3466C>T p.P1156S missense 0.00000825●●●●●●
276. 76558228 c.1058A>T p.E353V missense 0.00000825●●●●●●
277. 76540178 c.307A>G p.I103V missense 0.00000825●●●●●●
278. 76617345 c.3200A>G p.K1067R missense 0.00000825●●●●●●
279. 76624617 c.3746T>A p.F1249Y missense 0.00000825●●●●●●
280. 76618264 c.3332T>C p.V1111A missense 0.00000825●●●●●●
281. 76572382 c.1616G>A p.S539N missense 0.00000825●●●●●●
282. 76617401 c.3256C>T p.R1086C missense 0.00000825●●●●●●
283. 76540157 c.286G>T p.A96S missense 0.00000825●●●●●●
284. 76532566 c.185A>T p.N62I missense 0.00000825●●●●●●
285. 76602272 c.2972G>A p.R991Q missense 0.00000825●●●●●●
286. 76570743 c.1477C>A p.Q493K missense 0.00000825●●●●●●
287. 76596604 c.2551G>A p.D851N missense 0.00000825●●●●●●
288. 76618257 c.3325C>G p.L1109V missense 0.00000825●●●●●●
289. 76540229 c.358C>G p.L120V missense 0.00000825●●●●●●
290. 76558234 c.1064C>T p.A355V missense 0.00000825●●●●●●
291. 76540178 c.307A>T p.I103L missense 0.00000825●●●●●●
292. 76558078 c.908C>T p.A303V missense 0.00000825●●●●●●
293. 76617366 c.3221A>C p.K1074T missense 0.00000825●●●●●●
294. 76617350 c.3205G>A p.A1069T missense 0.00000825●●●●●●
295. 76596647 c.2594C>T p.P865L missense 0.00000825●●●●●●
296. 76623813 c.3473G>C p.R1158T missense 0.00000825●●●●●●
297. 76540158 c.287C>T p.A96V missense 0.00000825●●●●●●
298. 76540190 c.319T>C p.Y107H missense 0.00000825●●●●●●
299. 76624626 c.3755T>C p.I1252T missense 0.00000825●●●●●●
300. 76576246 c.1678C>T p.P560S missense 0.00000825●●●●●●
301. 76589663 c.2204G>A p.C735Y missense 0.00000825●●●●●●
302. 76540199 c.328G>A p.E110K missense 0.00000825●●●●●●
303. 76618336 c.3404C>G p.T1135S missense 0.00000825●●●●●●
304. 76572424 c.1658A>G p.D553G missense 0.00000824●●●●●●
305. 76532559 c.178G>C p.E60Q missense 0.00000824●●●●●●
306. 76624583 c.3712C>T p.R1238W missense 0.00000824●●●●●●
307. 76591490 c.2371A>G p.S791G missense 0.00000824●●●●●●
308. 76566843 c.1253A>G p.N418S missense 0.00000824●●●●●●
309. 76623837 c.3497G>A p.R1166Q missense 0.00000824●●●●●●
310. 76576259 c.1691A>G p.K564R missense 0.00000824●●●●●●
311. 76623948 c.3608C>T p.A1203V missense 0.00000824●●●●●●
312. 76591434 c.2315C>T p.S772F missense 0.00000824●●●●●●
313. 76527380 c.116A>G p.K39R missense 0.00000824●●●●●●
314. 76623980 c.3640C>T p.P1214S missense 0.00000824●●●●●●
315. 76566927 c.1337A>C p.E446A missense 0.00000824●●●●●●
316. 76624550 c.3679T>C p.C1227R missense 0.00000824●●●●●●
317. 76623878 c.3538G>A p.D1180N missense 0.00000824●●●●●●
318. 76623866 c.3526A>G p.I1176V missense 0.00000824●●●●●●
319. 76576322 c.1754C>G p.A585G missense 0.00000824●●●●●●
320. 76558163 c.993T>A p.D331E missense 0.00000824●●●●●●
321. 76572433 c.1667G>A p.R556Q missense 0.00000824●●●●●●
322. 76624584 c.3713G>A p.R1238Q missense 0.00000824●●●●●●
323. 76623911 c.3571G>A p.G1191S missense 0.00000824●●●●●●
324. 76589620 c.2161T>C p.Y721H missense 0.00000824●●●●●●
325. 76527349 c.85T>A p.L29I missense 0.00000824●●●●●●
326. 76623837 c.3497G>T p.R1166L missense 0.00000824●●●●●●
327. 76527293 c.29C>T p.P10L missense 0.00000824●●●●●●
328. 76558096 c.926C>G p.P309R missense 0.00000824●●●●●●
329. 76624541 c.3670A>G p.M1224V missense 0.00000824●●●●●●
330. 76623951 c.3611G>A p.R1204Q missense 0.00000824●●●●●●
331. 76591442 c.2323G>A p.D775N missense 0.00000824●●●●●●
332. 76572388 c.1622A>G p.Q541R missense 0.00000824●●●●●●
333. 76623875 c.3535G>T p.A1179S missense 0.00000824●●●●●●
334. 76589585 c.2126C>T p.A709V missense 0.00000824●●●●●●
335. 76558209 c.1039C>T p.L347F missense 0.00000824●●●●●●
336. 76624599 c.3728A>G p.E1243G missense 0.00000824●●●●●●
337. 76623879 c.3539A>T p.D1180V missense 0.00000824●●●●●●
338. 76589630 c.2171A>G p.D724G missense 0.00000824●●●●●●
339. 76527320 c.56G>T p.G19V missense 0.00000824●●●●●●
340. 76591505 c.2386G>A p.V796I missense 0.00000824●●●●●●
341. 76623941 c.3601T>C p.W1201R missense 0.00000824●●●●●●
342. 76527355 c.91A>G p.I31V missense 0.00000824●●●●●●
343. 76623914 c.3574T>A p.W1192R missense 0.00000824●●●●●●
344. 76591412 c.2293G>A p.E765K missense 0.00000824●●●●●●
345. 76589542 c.2083G>A p.V695M missense 0.00000824●●●●●●
346. 76566901 c.1311C>G p.N437K missense 0.00000824●●●●●●
347. 76566855 c.1265C>T p.A422V missense 0.00000824●●●●●●
348. 76558123 c.953T>C p.I318T missense 0.00000824●●●●●●
349. 76558086 c.916A>G p.M306V missense 0.00000824●●●●●●
350. 76527301 c.37A>G p.T13A missense 0.00000824●●●●●●
351. 76591445 c.2326C>T p.H776Y missense 0.00000824●●●●●●
352. 76623882 c.3542A>T p.Q1181L missense 0.00000824●●●●●●
353. 76623878 c.3538G>T p.D1180Y missense 0.00000824●●●●●●
354. 76589602 c.2143T>G p.Y715D missense 0.00000824●●●●●●
355. 76558140 c.970A>G p.M324V missense 0.00000824●●●●●●
356. 76527325 c.61A>G p.I21V missense 0.00000824●●●●●●
357. 76527284 c.20T>C p.V7A missense 0.00000824●●●●●●
358. 76591505 c.2386G>T p.V796F missense 0.00000824●●●●●●
359. 76576305 c.1737C>G p.I579M missense 0.00000824●●●●●●
360. 76527266 c.2T>C p.Met1? missense 0.00000824●●●●●●
361. 76591419 c.2300A>G p.D767G missense 0.00000824●●●●●●
362. 76570776 c.1510A>G p.N504D missense 0.00000824●●●●●●
363. 76527362 c.98C>T p.P33L missense 0.00000824●●●●●●
364. 76566870 c.1280T>C p.V427A missense 0.00000824●●●●●●
365. 76589560 c.2101A>T p.M701L missense 0.00000824●●●●●●
366. 76558134 c.964A>G p.T322A 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.