MYO6 variants in ExAC

MYO6 gene summary
MYO6 variants in

The table below lists the MYO6 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. 76545684 c.553+11T>C splice site 0.12145742●●●●●●
2. 76570816 c.1546+4_1546+5delTG splice site 0.02465735●●●●●●
3. 76564897 c.1120T>C p.Y374H missense 0.01361437●●●●●●
4. 76624538 c.3667G>A p.D1223N missense 0.00995730●●●●●●
5. 76624695 c.3824A>G p.Y1275C missense 0.00535155●●●●●●
6. 76596587 c.2534C>T p.T845I missense 0.00242590●●●●●●
7. 76566810 c.1224-4A>G splice site 0.00201392●●●●●●
8. 76558195 c.1025C>T p.A342V missense 0.00159081●●●●●●
9. 76599951 c.2836C>T p.R946C missense 0.00091438●●●●●●
10. 76623903 c.3563A>G p.K1188R missense 0.00070841●●●●●●
11. 76540124 c.262-9C>T splice site 0.00062053●●●●●●
12. 76564921 c.1144G>A p.D382N missense 0.00060070●●●●●●
13. 76596688 c.2635G>A p.D879N missense 0.00052849●●●●●●
14. 76554672 c.875T>C p.L292S missense 0.00047160●●●●●●
15. 76550395 c.647A>T p.E216V missense 0.00045975●●●●●●
16. 76600974 c.2897_2899delAAG p.Glu968del inframe 0.00038412●●●●●●
17. 76542642 c.475G>A p.E159K missense 0.00034730●●●●●●
18. 76558200 c.1030G>A p.V344I missense 0.00033795●●●●●●
19. 76527356 c.92T>C p.I31T missense 0.00029660●●●●●●
20. 76623870 c.3530G>A p.R1177H missense 0.00022241●●●●●●
21. 76570818 c.1546+6T>C splice site 0.00020759●●●●●●
22. 76551103 c.816+8A>G splice site 0.00019886●●●●●●
23. 76623869 c.3529C>T p.R1177C missense 0.00018947●●●●●●
24. 76608128 c.3176G>C p.R1059T missense 0.00018176●●●●●●
25. 76545683 c.553+10A>G splice site 0.00017442●●●●●●
26. 76599787 c.2672C>T p.T891M missense 0.00014219●●●●●●
27. 76527290 c.26C>T p.A9V missense 0.00013183●●●●●●
28. 76576663 c.1785G>T p.E595D missense 0.00012411●●●●●●
29. 76527316 c.52A>G p.M18V missense 0.00012358●●●●●●
30. 76538254 c.188-3T>C splice site 0.00011604●●●●●●
31. 76599955 c.2840G>A p.R947Q missense 0.00010817●●●●●●
32. 76558256 c.1078+8_1078+12delTTTTA splice site 0.00010209●●●●●●
33. 76624720 c.3849_3850insT p.Leu1284PhefsTer39 frameshift 0.00010169●●●●●●
34. 76618299 c.3367A>G p.N1123D missense 0.00009893●●●●●●
35. 76538258 c.189T>G p.C63W missense 0.00009111●●●●●●
36. 76540142 c.271G>A p.A91T missense 0.00008255●●●●●●
37. 76604978 c.3137+1G>A essential splice site 0.00007482●●●●●●
38. 76596669 c.2616G>T p.K872N missense 0.00007428●●●●●●
39. 76572397 c.1631C>T p.T544I missense 0.00007419●●●●●●
40. 76591461 c.2342T>A p.V781D missense 0.00007414●●●●●●
41. 76599933 c.2818C>T p.R940C missense 0.00006644●●●●●●
42. 76624662 c.3791A>G p.N1264S missense 0.00005818●●●●●●
43. 76595810 c.2506C>T p.R836C missense 0.00005285●●●●●●
44. 76564957 c.1180G>A p.V394I missense 0.00005060●●●●●●
45. 76617414 c.3269A>G p.N1090S missense 0.00004962●●●●●●
46. 76582979 c.2039T>C p.F680S missense 0.00004961●●●●●●
47. 76608087 c.3138-3T>C splice site 0.00004957●●●●●●
48. 76602272 c.2972G>T p.R991L missense 0.00004950●●●●●●
49. 0 c.-47-3C>G splice site 0.00004946●●●●●●
50. 76576316 c.1748C>T p.A583V missense 0.00004945●●●●●●
51. 76532544 c.163A>G p.S55G missense 0.00004944●●●●●●
52. 76589566 c.2107G>C p.G703R missense 0.00004942●●●●●●
53. 76595776 c.2472T>G p.I824M missense 0.00004247●●●●●●
54. 76602418 c.3107+11C>T splice site 0.00004224●●●●●●
55. 76558254 c.1078+6C>T splice site 0.00004183●●●●●●
56. 76604974 c.3134C>T p.T1045I missense 0.00004157●●●●●●
57. 76550343 c.595C>T p.R199C missense 0.00004149●●●●●●
58. 76576650 c.1772C>T p.T591I missense 0.00004142●●●●●●
59. 76618209 c.3281-4A>G splice site 0.00004142●●●●●●
60. 76624635 c.3764G>A p.R1255H missense 0.00004132●●●●●●
61. 76602329 c.3029G>A p.R1010Q missense 0.00004129●●●●●●
62. 76617380 c.3235A>G p.K1079E missense 0.00004124●●●●●●
63. 76596605 c.2552A>C p.D851A missense 0.00004124●●●●●●
64. 76570755 c.1489C>G p.Q497E missense 0.00004123●●●●●●
65. 76624589 c.3718C>T p.R1240C missense 0.00004121●●●●●●
66. 76591484 c.2365A>G p.T789A missense 0.00004118●●●●●●
67. 76550405 c.651+6T>C splice site 0.00003677●●●●●●
68. 76564925 c.1148A>G p.Q383R missense 0.00003418●●●●●●
69. 76624685 c.3814C>T p.R1272W missense 0.00003395●●●●●●
70. 76599780 c.2665A>G p.M889V missense 0.00003350●●●●●●
71. 76601016 c.2939G>A p.R980H missense 0.00003347●●●●●●
72. 76551034 c.755G>A p.C252Y missense 0.00003331●●●●●●
73. 76621416 c.3439+1G>A essential splice site 0.00003315●●●●●●
74. 76554623 c.826C>T p.R276X nonsense 0.00003307●●●●●●
75. 76618311 c.3379G>A p.E1127K missense 0.00003298●●●●●●
76. 76558135 c.965C>T p.T322M missense 0.00003297●●●●●●
77. 76624583 c.3712C>G p.R1238G missense 0.00003297●●●●●●
78. 76572424 c.1658A>T p.D553V missense 0.00003296●●●●●●
79. 76532521 c.140A>G p.Q47R missense 0.00003296●●●●●●
80. 76623854 c.3514C>T p.R1172C missense 0.00003295●●●●●●
81. 76527343 c.79G>A p.D27N missense 0.00003295●●●●●●
82. 76527307 c.43G>A p.G15R missense 0.00003295●●●●●●
83. 76600973 c.2896C>G p.Q966E missense 0.00003201●●●●●●
84. 76624715 c.3844A>G p.S1282G missense 0.00002751●●●●●●
85. 76624713 c.3842_3843delAG p.Leu1283ValfsTer39 frameshift 0.00002703●●●●●●
86. 76564937 c.1160G>A p.R387Q missense 0.00002545●●●●●●
87. 76576805 c.1927G>A p.V643M missense 0.00002543●●●●●●
88. 76602404 c.3104G>A p.R1035Q missense 0.00002517●●●●●●
89. 76602398 c.3098C>T p.A1033V missense 0.00002507●●●●●●
90. 76599813 c.2698G>A p.D900N missense 0.00002499●●●●●●
91. 76542669 c.497+5G>A splice site 0.00002492●●●●●●
92. 76550344 c.596G>A p.R199H missense 0.00002489●●●●●●
93. 76576755 c.1877A>T p.N626I missense 0.00002488●●●●●●
94. 76621415 c.3439C>T p.P1147S missense 0.00002486●●●●●●
95. 76576731 c.1853G>A p.R618Q missense 0.00002484●●●●●●
96. 76545650 c.530A>T p.D177V missense 0.00002483●●●●●●
97. 76602364 c.3064G>A p.E1022K missense 0.00002482●●●●●●
98. 76582960 c.2020A>G p.K674E missense 0.00002481●●●●●●
99. 76596566 c.2513A>G p.D838G missense 0.00002478●●●●●●
100. 76624005 c.3658+7A>G splice site 0.00002478●●●●●●
101. 76602320 c.3020G>A p.R1007H missense 0.00002477●●●●●●
102. 76618352 c.3412+8G>T splice site 0.00002477●●●●●●
103. 76602328 c.3028C>T p.R1010W missense 0.00002477●●●●●●
104. 76624626 c.3755T>A p.I1252N missense 0.00002476●●●●●●
105. 76602263 c.2963A>C p.Q988P missense 0.00002475●●●●●●
106. 76623818 c.3478C>T p.R1160W missense 0.00002474●●●●●●
107. 76572393 c.1627T>C p.F543L missense 0.00002473●●●●●●
108. 76623977 c.3637C>T p.P1213S missense 0.00002472●●●●●●
109. 76527314 c.50A>G p.Q17R missense 0.00002472●●●●●●
110. 76527325 c.61A>T p.I21F missense 0.00002472●●●●●●
111. 76624575 c.3704G>T p.G1235V missense 0.00002472●●●●●●
112. 76623947 c.3607G>T p.A1203S missense 0.00002471●●●●●●
113. 76623894 c.3554C>G p.P1185R missense 0.00002471●●●●●●
114. 76591476 c.2357A>G p.H786R missense 0.00002471●●●●●●
115. 76591494 c.2375G>T p.R792L missense 0.00002471●●●●●●
116. 76623846 c.3506G>A p.R1169H missense 0.00002471●●●●●●
117. 76589845 c.2286+8T>C splice site 0.00002325●●●●●●
118. 76589841 c.2286+4A>T splice site 0.00002252●●●●●●
119. 76568688 c.1451T>G p.F484C missense 0.00002063●●●●●●
120. 76568666 c.1429A>G p.N477D missense 0.00002021●●●●●●
121. 76564886 c.1109A>G p.Q370R missense 0.00001832●●●●●●
122. 76599858 c.2743A>G p.K915E missense 0.00001812●●●●●●
123. 76580395 c.1976G>A p.R659Q missense 0.00001715●●●●●●
124. 76624682 c.3811G>T p.A1271S missense 0.00001692●●●●●●
125. 76550924 c.652-7T>G splice site 0.00001688●●●●●●
126. 76599979 c.2864G>A p.R955Q missense 0.00001676●●●●●●
127. 76602403 c.3103C>T p.R1035W missense 0.00001675●●●●●●
128. 76576781 c.1903G>A p.A635T missense 0.00001666●●●●●●
129. 76599811 c.2696A>G p.Y899C missense 0.00001666●●●●●●
130. 76550294 c.554-8C>T splice site 0.00001665●●●●●●
131. 76604983 c.3137+6T>G splice site 0.00001665●●●●●●
132. 76551020 c.741C>G p.I247M missense 0.00001665●●●●●●
133. 76604982 c.3137+5G>A splice site 0.00001664●●●●●●
134. 76572341 c.1575A>G p.I525M missense 0.00001664●●●●●●
135. 76599951 c.2836C>A p.R946S missense 0.00001663●●●●●●
136. 76550998 c.719A>G p.K240R missense 0.00001663●●●●●●
137. 76599828 c.2713A>G p.S905G missense 0.00001663●●●●●●
138. 76604978 c.3137+1G>T essential splice site 0.00001663●●●●●●
139. 76604977 c.3137C>T p.P1046L missense 0.00001663●●●●●●
140. 76599945 c.2830G>A p.E944K missense 0.00001663●●●●●●
141. 76621394 c.3418G>A p.A1140T missense 0.00001661●●●●●●
142. 76617431 c.3280+6_3280+9delTGTT splice site 0.00001661●●●●●●
143. 76599879 c.2764G>A p.E922K missense 0.00001661●●●●●●
144. 76599922 c.2807A>G p.E936G missense 0.00001660●●●●●●
145. 76599898 c.2783G>A p.R928H missense 0.00001660●●●●●●
146. 76550350 c.602A>G p.N201S missense 0.00001660●●●●●●
147. 76599913 c.2798T>G p.M933R missense 0.00001660●●●●●●
148. 76599862 c.2747A>C p.K916T missense 0.00001660●●●●●●
149. 76540269 c.391+7G>C splice site 0.00001659●●●●●●
150. 76542567 c.400G>A p.A134T missense 0.00001659●●●●●●
151. 76572355 c.1589A>T p.D530V missense 0.00001658●●●●●●
152. 76576745 c.1867T>G p.S623A missense 0.00001657●●●●●●
153. 76583000 c.2060C>T p.S687F missense 0.00001657●●●●●●
154. 76554683 c.886A>G p.K296E missense 0.00001656●●●●●●
155. 76554681 c.884G>A p.R295H missense 0.00001656●●●●●●
156. 76576730 c.1852C>T p.R618W missense 0.00001656●●●●●●
157. 76538266 c.197T>C p.M66T missense 0.00001655●●●●●●
158. 76554662 c.865A>G p.K289E missense 0.00001654●●●●●●
159. 76554607 c.817-7G>C splice site 0.00001654●●●●●●
160. 76602357 c.3057T>G p.S1019R missense 0.00001654●●●●●●
161. 76554609 c.817-5C>T splice site 0.00001654●●●●●●
162. 76540125 c.262-8G>A splice site 0.00001654●●●●●●
163. 76572366 c.1600C>T p.R534C missense 0.00001654●●●●●●
164. 76538316 c.247A>G p.K83E missense 0.00001654●●●●●●
165. 76554624 c.827G>A p.R276Q missense 0.00001653●●●●●●
166. 76540259 c.388A>G p.I130V missense 0.00001653●●●●●●
167. 76538299 c.230T>C p.I77T missense 0.00001653●●●●●●
168. 76602335 c.3035T>C p.L1012P missense 0.00001652●●●●●●
169. 76608123 c.3171G>C p.L1057F missense 0.00001652●●●●●●
170. 76576345 c.1770+7A>G splice site 0.00001652●●●●●●
171. 76576342 c.1770+4A>G splice site 0.00001651●●●●●●
172. 76540174 c.303T>G p.F101L missense 0.00001650●●●●●●
173. 76602300 c.3000A>T p.Q1000H missense 0.00001650●●●●●●
174. 76617360 c.3215C>G p.T1072S missense 0.00001650●●●●●●
175. 76572394 c.1628T>G p.F543C missense 0.00001649●●●●●●
176. 76589650 c.2191C>T p.P731S missense 0.00001649●●●●●●
177. 0 c.-47-3C>T splice site 0.00001649●●●●●●
178. 76618317 c.3385C>T p.R1129C missense 0.00001649●●●●●●
179. 76558092 c.922G>C p.D308H missense 0.00001649●●●●●●
180. 76618318 c.3386G>A p.R1129H missense 0.00001649●●●●●●
181. 76618270 c.3338A>T p.H1113L missense 0.00001649●●●●●●
182. 76617381 c.3236A>G p.K1079R missense 0.00001649●●●●●●
183. 76558166 c.996A>T p.E332D missense 0.00001649●●●●●●
184. 76558219 c.1049T>C p.I350T missense 0.00001649●●●●●●
185. 76596614 c.2561A>G p.N854S missense 0.00001649●●●●●●
186. 76532536 c.155A>G p.E52G missense 0.00001648●●●●●●
187. 76572445 c.1674+5G>A splice site 0.00001648●●●●●●
188. 76624590 c.3719G>A p.R1240H missense 0.00001648●●●●●●
189. 76589618 c.2159A>T p.K720M missense 0.00001648●●●●●●
190. 76623845 c.3505C>T p.R1169C missense 0.00001648●●●●●●
191. 76589618 c.2159A>G p.K720R missense 0.00001648●●●●●●
192. 76566848 c.1258C>T p.R420C missense 0.00001648●●●●●●
193. 76527367 c.103A>T p.N35Y missense 0.00001648●●●●●●
194. 76591428 c.2309T>C p.M770T missense 0.00001648●●●●●●
195. 76576288 c.1720G>A p.D574N missense 0.00001648●●●●●●
196. 76566960 c.1370T>C p.I457T missense 0.00001648●●●●●●
197. 76558186 c.1016G>A p.R339Q missense 0.00001648●●●●●●
198. 76527283 c.19G>A p.V7I missense 0.00001648●●●●●●
199. 76572435 c.1669C>A p.L557I missense 0.00001648●●●●●●
200. 76623905 c.3565A>G p.K1189E missense 0.00001647●●●●●●
201. 76589615 c.2156A>C p.K719T missense 0.00001647●●●●●●
202. 76564848 c.1079-8T>C splice site 0.00001549●●●●●●
203. 76600939 c.2868-6T>C splice site 0.00001525●●●●●●
204. 76600942 c.2868-3T>C splice site 0.00001413●●●●●●
205. 76564851 c.1079-5A>G splice site 0.00001398●●●●●●
206. 76564856 c.1079G>A p.G360D missense 0.00001207●●●●●●
207. 76601030 c.2946+7A>G splice site 0.00001164●●●●●●
208. 76600958 c.2881G>A p.E961K missense 0.00001151●●●●●●
209. 76568714 c.1473+4A>G splice site 0.00001142●●●●●●
210. 76601024 c.2946+1G>A essential splice site 0.00001142●●●●●●
211. 76589842 c.2286+5A>G splice site 0.00001132●●●●●●
212. 76601015 c.2938C>T p.R980C missense 0.00001111●●●●●●
213. 76600971 c.2894_2896delAAC p.Gln966del inframe 0.00001076●●●●●●
214. 76568699 c.1462A>G p.I488V missense 0.00001066●●●●●●
215. 76600979 c.2902G>A p.E968K missense 0.00001050●●●●●●
216. 76595714 c.2417-7C>T splice site 0.00001034●●●●●●
217. 76568684 c.1447T>A p.F483I missense 0.00001025●●●●●●
218. 76568661 c.1424A>G p.Y475C missense 0.00001014●●●●●●
219. 76564883 c.1106C>T p.A369V missense 0.00000929●●●●●●
220. 76624719 c.3848T>C p.L1283P missense 0.00000922●●●●●●
221. 76595732 c.2428A>G p.I810V missense 0.00000908●●●●●●
222. 76580358 c.1945-6T>G splice site 0.00000890●●●●●●
223. 76589793 c.2242G>A p.D748N missense 0.00000889●●●●●●
224. 76576817 c.1939T>G p.F647V missense 0.00000888●●●●●●
225. 76572305 c.1547-8T>G splice site 0.00000881●●●●●●
226. 76572306 c.1547-7G>A splice site 0.00000878●●●●●●
227. 76624703 c.3832G>A p.A1278T missense 0.00000877●●●●●●
228. 76580367 c.1948C>G p.Q650E missense 0.00000874●●●●●●
229. 76564998 c.1221A>G p.I407M missense 0.00000863●●●●●●
230. 76550386 c.638A>G p.H213R missense 0.00000862●●●●●●
231. 76564921 c.1144G>C p.D382H missense 0.00000858●●●●●●
232. 76624693 c.3822_3823insT p.Tyr1275LeufsTer48 frameshift 0.00000858●●●●●●
233. 76580406 c.1983+4A>G splice site 0.00000857●●●●●●
234. 76564985 c.1208A>C p.K403T missense 0.00000852●●●●●●
235. 76624689 c.3818C>T p.P1273L missense 0.00000852●●●●●●
236. 76595771 c.2467A>G p.T823A missense 0.00000849●●●●●●
237. 76564979 c.1202G>A p.G401D missense 0.00000849●●●●●●
238. 76564936 c.1159C>T p.R387X nonsense 0.00000849●●●●●●
239. 76564979 c.1202G>C p.G401A missense 0.00000849●●●●●●
240. 76595765 c.2461_2462insA p.Thr823AsnfsTer16 frameshift 0.00000849●●●●●●
241. 76564970 c.1193C>T p.T398I missense 0.00000846●●●●●●
242. 76564951 c.1174A>G p.T392A missense 0.00000844●●●●●●
243. 76576795 c.1917C>G p.S639R missense 0.00000839●●●●●●
244. 76602406 c.3106A>G p.R1036G missense 0.00000839●●●●●●
245. 76599975 c.2860A>G p.R954G missense 0.00000836●●●●●●
246. 76550940 c.661G>T p.V221F missense 0.00000836●●●●●●
247. 76599792 c.2677G>A p.E893K missense 0.00000835●●●●●●
248. 76599969 c.2854G>A p.E952K missense 0.00000834●●●●●●
249. 76551054 c.775A>T p.I259F missense 0.00000834●●●●●●
250. 76542554 c.392-5C>T splice site 0.00000834●●●●●●
251. 76604942 c.3108-6T>C splice site 0.00000834●●●●●●
252. 76624668 c.3797T>C p.I1266T missense 0.00000834●●●●●●
253. 76599802 c.2687A>G p.Q896R missense 0.00000834●●●●●●
254. 76551039 c.760G>C p.G254R missense 0.00000833●●●●●●
255. 76576782 c.1904C>G p.A635G missense 0.00000833●●●●●●
256. 76558252 c.1078+4T>G splice site 0.00000833●●●●●●
257. 76599964 c.2849A>G p.E950G missense 0.00000833●●●●●●
258. 76550962 c.683A>G p.Y228C missense 0.00000832●●●●●●
259. 76550295 c.554-7T>A splice site 0.00000832●●●●●●
260. 76551013 c.734A>T p.Y245F missense 0.00000832●●●●●●
261. 76550967 c.688C>A p.L230I missense 0.00000832●●●●●●
262. 76550995 c.716G>A p.G239D missense 0.00000832●●●●●●
263. 76550361 c.613C>T p.R205X nonsense 0.00000832●●●●●●
264. 76602386 c.3086A>G p.Q1029R missense 0.00000831●●●●●●
265. 76542669 c.497+5G>C splice site 0.00000831●●●●●●
266. 76583009 c.2069A>G p.Q690R missense 0.00000831●●●●●●
267. 76599952 c.2837G>A p.R946H missense 0.00000831●●●●●●
268. 76599926 c.2811_2812delAA p.Arg939ThrfsTer2 frameshift 0.00000831●●●●●●
269. 76550306 c.558C>A p.N186K missense 0.00000831●●●●●●
270. 76542562 c.395A>T p.D132V missense 0.00000831●●●●●●
271. 76599933 c.2818C>A p.R940S missense 0.00000831●●●●●●
272. 76542671 c.497+7A>G splice site 0.00000831●●●●●●
273. 76550308 c.560C>T p.P187L missense 0.00000831●●●●●●
274. 76582927 c.1987G>A p.A663T missense 0.00000831●●●●●●
275. 76582925 c.1985G>A p.G662E missense 0.00000831●●●●●●
276. 76540268 c.391+6T>A splice site 0.00000830●●●●●●
277. 76599868 c.2753A>G p.Q918R missense 0.00000830●●●●●●
278. 76599897 c.2782C>T p.R928C missense 0.00000830●●●●●●
279. 76550335 c.587A>T p.K196M missense 0.00000830●●●●●●
280. 76540268 c.391+6T>C splice site 0.00000830●●●●●●
281. 76599876 c.2761G>T p.E921X nonsense 0.00000830●●●●●●
282. 76617319 c.3177-3C>T splice site 0.00000830●●●●●●
283. 76582930 c.1990A>T p.S664C missense 0.00000830●●●●●●
284. 76617426 c.3280+1G>A essential splice site 0.00000830●●●●●●
285. 76599890 c.2775G>C p.R925S missense 0.00000830●●●●●●
286. 76576756 c.1878T>A p.N626K missense 0.00000830●●●●●●
287. 76545679 c.553+6G>A splice site 0.00000830●●●●●●
288. 76599919 c.2804A>G p.K935R missense 0.00000830●●●●●●
289. 76576752 c.1874C>A p.T625K missense 0.00000830●●●●●●
290. 76618205 c.3281-8A>C splice site 0.00000829●●●●●●
291. 76623775 c.3440-5A>G splice site 0.00000829●●●●●●
292. 76542569 c.402delT p.Arg136GlufsTer3 frameshift 0.00000829●●●●●●
293. 76618206 c.3281-7T>C splice site 0.00000829●●●●●●
294. 76623777 c.3440-3T>C splice site 0.00000829●●●●●●
295. 76576755 c.1877A>G p.N626S missense 0.00000829●●●●●●
296. 76554699 c.897+5A>G splice site 0.00000829●●●●●●
297. 76621408 c.3432C>G p.N1144K missense 0.00000829●●●●●●
298. 76623780 c.3440C>T p.P1147L missense 0.00000828●●●●●●
299. 76545657 c.537T>A p.D179E missense 0.00000828●●●●●●
300. 76617327 c.3182C>G p.P1061R missense 0.00000828●●●●●●
301. 76582940 c.2000G>A p.R667H missense 0.00000828●●●●●●
302. 76618216 c.3284T>C p.I1095T missense 0.00000828●●●●●●
303. 76538327 c.258T>G p.I86M missense 0.00000828●●●●●●
304. 76538260 c.191C>T p.S64L missense 0.00000828●●●●●●
305. 76545635 c.515A>G p.Y172C missense 0.00000828●●●●●●
306. 76545651 c.531T>A p.D177E missense 0.00000828●●●●●●
307. 76576729 c.1851A>G p.I617M missense 0.00000828●●●●●●
308. 76538268 c.199T>C p.Y67H missense 0.00000828●●●●●●
309. 76554680 c.883C>T p.R295C missense 0.00000828●●●●●●
310. 76538283 c.214A>G p.T72A missense 0.00000827●●●●●●
311. 76582978 c.2038T>C p.F680L missense 0.00000827●●●●●●
312. 76538307 c.238C>T p.R80X nonsense 0.00000827●●●●●●
313. 76576705 c.1827A>G p.I609M missense 0.00000827●●●●●●
314. 76572367 c.1601G>A p.R534H missense 0.00000827●●●●●●
315. 76540262 c.391G>C p.A131P missense 0.00000827●●●●●●
316. 76538326 c.257T>C p.I86T missense 0.00000827●●●●●●
317. 76608136 c.3176+8C>G splice site 0.00000827●●●●●●
318. 76566815 c.1225G>A p.V409I missense 0.00000827●●●●●●
319. 76538308 c.239G>A p.R80Q missense 0.00000827●●●●●●
320. 76538286 c.217C>G p.L73V missense 0.00000827●●●●●●
321. 76582985 c.2045G>T p.G682V missense 0.00000827●●●●●●
322. 76617330 c.3185C>G p.A1062G missense 0.00000827●●●●●●
323. 76576715 c.1837A>G p.R613G missense 0.00000827●●●●●●
324. 76554626 c.829G>C p.G277R missense 0.00000827●●●●●●
325. 76554665 c.868C>A p.Q290K missense 0.00000827●●●●●●
326. 76582970 c.2030G>T p.S677I missense 0.00000827●●●●●●
327. 76617415 c.3270T>A p.N1090K missense 0.00000827●●●●●●
328. 76596719 c.2658+8A>G splice site 0.00000827●●●●●●
329. 76618221 c.3289C>T p.L1097F missense 0.00000827●●●●●●
330. 76538315 c.246T>G p.S82R missense 0.00000827●●●●●●
331. 76554666 c.869A>T p.Q290L missense 0.00000827●●●●●●
332. 76554647 c.850A>G p.N284D missense 0.00000827●●●●●●
333. 76582970 c.2030G>A p.S677N missense 0.00000827●●●●●●
334. 76618228 c.3296C>G p.A1099G missense 0.00000827●●●●●●
335. 76576704 c.1826T>C p.I609T missense 0.00000827●●●●●●
336. 76602353 c.3053A>G p.Q1018R missense 0.00000827●●●●●●
337. 76540263 c.391+1G>A essential splice site 0.00000827●●●●●●
338. 76542585 c.418G>T p.V140L missense 0.00000827●●●●●●
339. 76602328 c.3028C>G p.R1010G missense 0.00000826●●●●●●
340. 76617402 c.3257_3258insT p.Asp1087Ter frameshift 0.00000826●●●●●●
341. 76608112 c.3160T>C p.S1054P missense 0.00000826●●●●●●
342. 76542606 c.439A>G p.I147V missense 0.00000826●●●●●●
343. 76596685 c.2632A>G p.I878V missense 0.00000826●●●●●●
344. 76540251 c.380T>C p.V127A missense 0.00000826●●●●●●
345. 76623797 c.3457G>A p.A1153T missense 0.00000826●●●●●●
346. 76602343 c.3043A>G p.R1015G missense 0.00000826●●●●●●
347. 76608086 c.3138-4G>C splice site 0.00000826●●●●●●
348. 76596686 c.2633T>C p.I878T missense 0.00000826●●●●●●
349. 76608095 c.3143A>G p.Q1048R missense 0.00000826●●●●●●
350. 76623800 c.3460C>T p.Q1154X nonsense 0.00000826●●●●●●
351. 76558237 c.1067G>A p.G356D missense 0.00000826●●●●●●
352. 76608128 c.3176G>A p.R1059K missense 0.00000826●●●●●●
353. 76596562 c.2509A>G p.I837V missense 0.00000826●●●●●●
354. 76596697 c.2644A>G p.M882V missense 0.00000826●●●●●●
355. 76608098 c.3146T>C p.M1049T missense 0.00000826●●●●●●
356. 76558062 c.898-6T>C splice site 0.00000825●●●●●●
357. 76540178 c.307A>G p.I103V missense 0.00000825●●●●●●
358. 76540157 c.286G>T p.A96S missense 0.00000825●●●●●●
359. 76618257 c.3325C>G p.L1109V missense 0.00000825●●●●●●
360. 76596618 c.2565_2566insGT p.Val857Ter frameshift 0.00000825●●●●●●
361. 76624626 c.3755T>C p.I1252T missense 0.00000825●●●●●●
362. 76617366 c.3221A>C p.K1074T missense 0.00000825●●●●●●
363. 76540229 c.358C>G p.L120V missense 0.00000825●●●●●●
364. 76602272 c.2972G>A p.R991Q missense 0.00000825●●●●●●
365. 76623806 c.3466C>T p.P1156S missense 0.00000825●●●●●●
366. 76558228 c.1058A>T p.E353V missense 0.00000825●●●●●●
367. 76576246 c.1678C>T p.P560S missense 0.00000825●●●●●●
368. 76589663 c.2204G>A p.C735Y missense 0.00000825●●●●●●
369. 76558070 c.900C>T splice site 0.00000825●●●●●●
370. 76540178 c.307A>T p.I103L missense 0.00000825●●●●●●
371. 76570740 c.1474G>A p.E492K missense 0.00000825●●●●●●
372. 76540158 c.287C>T p.A96V missense 0.00000825●●●●●●
373. 76596604 c.2551G>A p.D851N missense 0.00000825●●●●●●
374. 76623813 c.3473G>C p.R1158T missense 0.00000825●●●●●●
375. 76558234 c.1064C>T p.A355V missense 0.00000825●●●●●●
376. 76540197 c.326delC p.Ser109Ter frameshift 0.00000825●●●●●●
377. 76624617 c.3746T>A p.F1249Y missense 0.00000825●●●●●●
378. 76558078 c.908C>T p.A303V missense 0.00000825●●●●●●
379. 76572382 c.1616G>A p.S539N missense 0.00000825●●●●●●
380. 76540190 c.319T>C p.Y107H missense 0.00000825●●●●●●
381. 76624524 c.3659-6A>G splice site 0.00000825●●●●●●
382. 76618336 c.3404C>G p.T1135S missense 0.00000825●●●●●●
383. 76596647 c.2594C>T p.P865L missense 0.00000825●●●●●●
384. 76602319 c.3019C>T p.R1007C missense 0.00000825●●●●●●
385. 76596598 c.2545C>T p.R849X nonsense 0.00000825●●●●●●
386. 76602262 c.2962C>G p.Q988E missense 0.00000825●●●●●●
387. 76570743 c.1477C>A p.Q493K missense 0.00000825●●●●●●
388. 76617350 c.3205G>A p.A1069T missense 0.00000825●●●●●●
389. 76618264 c.3332T>C p.V1111A missense 0.00000825●●●●●●
390. 76617345 c.3200A>G p.K1067R missense 0.00000825●●●●●●
391. 76540199 c.328G>A p.E110K missense 0.00000825●●●●●●
392. 76532566 c.185A>T p.N62I missense 0.00000825●●●●●●
393. 76617401 c.3256C>T p.R1086C missense 0.00000825●●●●●●
394. 76623882 c.3542A>T p.Q1181L missense 0.00000824●●●●●●
395. 76591412 c.2293G>A p.E765K missense 0.00000824●●●●●●
396. 76623837 c.3497G>A p.R1166Q missense 0.00000824●●●●●●
397. 76566855 c.1265C>T p.A422V missense 0.00000824●●●●●●
398. 76527349 c.85T>A p.L29I missense 0.00000824●●●●●●
399. 76558134 c.964A>G p.T322A missense 0.00000824●●●●●●
400. 76591445 c.2326C>T p.H776Y missense 0.00000824●●●●●●
401. 76589602 c.2143T>G p.Y715D missense 0.00000824●●●●●●
402. 76623878 c.3538G>T p.D1180Y missense 0.00000824●●●●●●
403. 76624583 c.3712C>T p.R1238W missense 0.00000824●●●●●●
404. 76591505 c.2386G>T p.V796F missense 0.00000824●●●●●●
405. 76576305 c.1737C>G p.I579M missense 0.00000824●●●●●●
406. 76591490 c.2371A>G p.S791G missense 0.00000824●●●●●●
407. 76527293 c.29C>T p.P10L missense 0.00000824●●●●●●
408. 76623941 c.3601T>C p.W1201R missense 0.00000824●●●●●●
409. 76570776 c.1510A>G p.N504D missense 0.00000824●●●●●●
410. 76591419 c.2300A>G p.D767G missense 0.00000824●●●●●●
411. 76623837 c.3497G>T p.R1166L missense 0.00000824●●●●●●
412. 76589560 c.2101A>T p.M701L missense 0.00000824●●●●●●
413. 76624550 c.3679T>C p.C1227R missense 0.00000824●●●●●●
414. 76566870 c.1280T>C p.V427A missense 0.00000824●●●●●●
415. 76527355 c.91A>G p.I31V missense 0.00000824●●●●●●
416. 76558163 c.993T>A p.D331E missense 0.00000824●●●●●●
417. 76558096 c.926C>G p.P309R missense 0.00000824●●●●●●
418. 76623980 c.3640C>T p.P1214S missense 0.00000824●●●●●●
419. 76572424 c.1658A>G p.D553G missense 0.00000824●●●●●●
420. 76623878 c.3538G>A p.D1180N missense 0.00000824●●●●●●
421. 76623866 c.3526A>G p.I1176V missense 0.00000824●●●●●●
422. 76558209 c.1039C>T p.L347F missense 0.00000824●●●●●●
423. 76566843 c.1253A>G p.N418S missense 0.00000824●●●●●●
424. 76527284 c.20T>C p.V7A missense 0.00000824●●●●●●
425. 76558140 c.970A>G p.M324V missense 0.00000824●●●●●●
426. 76572441 c.1674+1G>A essential splice site 0.00000824●●●●●●
427. 76624584 c.3713G>A p.R1238Q missense 0.00000824●●●●●●
428. 76527320 c.56G>T p.G19V missense 0.00000824●●●●●●
429. 76576259 c.1691A>G p.K564R missense 0.00000824●●●●●●
430. 76623911 c.3571G>A p.G1191S missense 0.00000824●●●●●●
431. 76591434 c.2315C>T p.S772F missense 0.00000824●●●●●●
432. 76623948 c.3608C>T p.A1203V missense 0.00000824●●●●●●
433. 76624599 c.3728A>G p.E1243G missense 0.00000824●●●●●●
434. 76566927 c.1337A>C p.E446A missense 0.00000824●●●●●●
435. 76623839 c.3499C>T p.Q1167X nonsense 0.00000824●●●●●●
436. 76532559 c.178G>C p.E60Q missense 0.00000824●●●●●●
437. 76527362 c.98C>T p.P33L missense 0.00000824●●●●●●
438. 76589529 c.2078-8G>C splice site 0.00000824●●●●●●
439. 76527266 c.2T>C p.Met1? missense 0.00000824●●●●●●
440. 76572433 c.1667G>A p.R556Q missense 0.00000824●●●●●●
441. 76576322 c.1754C>G p.A585G missense 0.00000824●●●●●●
442. 76624541 c.3670A>G p.M1224V missense 0.00000824●●●●●●
443. 76527301 c.37A>G p.T13A missense 0.00000824●●●●●●
444. 76623879 c.3539A>T p.D1180V missense 0.00000824●●●●●●
445. 76589620 c.2161T>C p.Y721H missense 0.00000824●●●●●●
446. 76589630 c.2171A>G p.D724G missense 0.00000824●●●●●●
447. 76558086 c.916A>G p.M306V missense 0.00000824●●●●●●
448. 76527325 c.61A>G p.I21V missense 0.00000824●●●●●●
449. 76558123 c.953T>C p.I318T missense 0.00000824●●●●●●
450. 76623914 c.3574T>A p.W1192R missense 0.00000824●●●●●●
451. 76591442 c.2323G>A p.D775N missense 0.00000824●●●●●●
452. 76591545 c.2416+10T>C splice site 0.00000824●●●●●●
453. 76572388 c.1622A>G p.Q541R missense 0.00000824●●●●●●
454. 76572432 c.1666C>T p.R556X nonsense 0.00000824●●●●●●
455. 76623951 c.3611G>A p.R1204Q missense 0.00000824●●●●●●
456. 76589542 c.2083G>A p.V695M missense 0.00000824●●●●●●
457. 76623875 c.3535G>T p.A1179S missense 0.00000824●●●●●●
458. 76589585 c.2126C>T p.A709V missense 0.00000824●●●●●●
459. 76566901 c.1311C>G p.N437K missense 0.00000824●●●●●●
460. 76589532 c.2078-5T>A splice site 0.00000824●●●●●●
461. 76527380 c.116A>G p.K39R missense 0.00000824●●●●●●
462. 76566975 c.1381+4A>C splice site 0.00000824●●●●●●
463. 76591505 c.2386G>A p.V796I 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.