MYH11 variants in ExAC

MYH11 gene summary
MYH11 variants in

The table below lists the MYH11 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. 15853596 c.1249-11G>C splice site 0.41639010●●●●●●
2. 15820863 c.3700G>A p.A1234T missense 0.24569179●●●●●●
3. 15842023 c.2061C>T p.S687S splice site 0.06474934●●●●●●
4. 15818842 c.3866T>C p.V1289A missense 0.03975706●●●●●●
5. 15870032 c.792T>C p.Y264Y splice site 0.03070840●●●●●●
6. 0 c.503-14_503-12delCTT splice site 0.01070886●●●●●●
7. 15811209 c.5296-4C>T splice site 0.00619946●●●●●●
8. 15808876 c.5676G>C p.E1892D missense 0.00513967●●●●●●
9. 15839103 c.2412-9C>A splice site 0.00438012●●●●●●
10. 15829419 c.3310G>A p.A1104T missense 0.00385916●●●●●●
11. 15812300 c.5172-5C>T splice site 0.00350202●●●●●●
12. 15820917 c.3652-6C>T splice site 0.00259507●●●●●●
13. 15814883 c.4604G>A p.R1535Q missense 0.00234018●●●●●●
14. 15826416 c.3651+5delT splice site 0.00221607●●●●●●
15. 15814692 c.4791+4C>T splice site 0.00217535●●●●●●
16. 15872688 c.739C>T p.R247C missense 0.00194386●●●●●●
17. 15818759 c.3949C>A p.L1317I missense 0.00171479●●●●●●
18. 15810989 c.5504+8G>C splice site 0.00165790●●●●●●
19. 15815276 c.4578+3A>G splice site 0.00145033●●●●●●
20. 15815335 c.4522A>G p.M1508V missense 0.00143321●●●●●●
21. 15797967 c.5800A>T p.T1934S missense 0.00124370●●●●●●
22. 15844182 c.1871G>A p.R624H missense 0.00098150●●●●●●
23. 15850215 c.1732A>G p.I578V missense 0.00080061●●●●●●
24. 15814814 c.4673C>T p.T1558M missense 0.00074130●●●●●●
25. 15812241 c.5226G>C p.E1742D missense 0.00072783●●●●●●
26. 15818780 c.3928G>A p.V1310M missense 0.00070097●●●●●●
27. 15831403 c.3196G>A p.D1066N missense 0.00069216●●●●●●
28. 15811165 c.5336C>T p.T1779M missense 0.00064646●●●●●●
29. 15818647 c.3973C>G p.Q1325E missense 0.00062624●●●●●●
30. 15844048 c.2005C>T p.R669C missense 0.00057782●●●●●●
31. 15865545 c.914A>G p.N305S missense 0.00056864●●●●●●
32. 15809049 c.5585G>A p.R1862H missense 0.00042846●●●●●●
33. 15834012 c.2893G>T p.A965S missense 0.00039535●●●●●●
34. 15820797 c.3766A>C p.K1256Q missense 0.00038717●●●●●●
35. 15818143 c.4240G>A p.A1414T missense 0.00036250●●●●●●
36. 15808856 c.5696A>G p.N1899S missense 0.00033829●●●●●●
37. 15808755 c.5786+11C>T splice site 0.00032463●●●●●●
38. 15818798 c.3910A>C p.I1304L missense 0.00032185●●●●●●
39. 15844174 c.1879G>A p.G627S missense 0.00031549●●●●●●
40. 15829260 c.3469G>A p.D1157N missense 0.00031298●●●●●●
41. 15811002 c.5499G>C p.E1833D missense 0.00030514●●●●●●
42. 15826468 c.3604G>A p.A1202T missense 0.00029651●●●●●●
43. 15835514 c.2665A>C p.K889Q missense 0.00027182●●●●●●
44. 15835621 c.2648C>T p.S883L missense 0.00027180●●●●●●
45. 15842009 c.2075C>T p.A692V missense 0.00025780●●●●●●
46. 15931893 c.217A>C p.K73Q missense 0.00025533●●●●●●
47. 15809118 c.5516C>T p.A1839V missense 0.00021475●●●●●●
48. 15812194 c.5273G>A p.R1758Q missense 0.00021428●●●●●●
49. 15808945 c.5614-7G>A splice site 0.00020691●●●●●●
50. 15814139 c.4822G>A p.E1608K missense 0.00020120●●●●●●
51. 15808917 c.5635G>A p.V1879I missense 0.00018981●●●●●●
52. 15851676 c.1575+8delG splice site 0.00018980●●●●●●
53. 15851757 c.1502G>A p.R501H missense 0.00018944●●●●●●
54. 15812192 c.5275G>A p.V1759I missense 0.00018812●●●●●●
55. 15811060 c.5441C>T p.S1814F missense 0.00018130●●●●●●
56. 15818206 c.4177G>C p.G1393R missense 0.00016550●●●●●●
57. 15826510 c.3562C>T p.R1188W missense 0.00016474●●●●●●
58. 15844140 c.1913C>T p.S638L missense 0.00015891●●●●●●
59. 15851677 c.1575+7G>A splice site 0.00015683●●●●●●
60. 15831300 c.3293+6G>A splice site 0.00015680●●●●●●
61. 15865427 c.1032A>G p.L344L splice site 0.00015655●●●●●●
62. 15838978 c.2520+8C>A splice site 0.00014885●●●●●●
63. 15917142 c.472G>A p.A158T missense 0.00014003●●●●●●
64. 15811148 c.5353A>T p.S1785C missense 0.00013234●●●●●●
65. 15814914 c.4579-6C>T splice site 0.00013231●●●●●●
66. 15808820 c.5732C>T p.T1911M missense 0.00013208●●●●●●
67. 15814884 c.4603C>T p.R1535W missense 0.00012361●●●●●●
68. 15814839 c.4648G>A p.E1550K missense 0.00012355●●●●●●
69. 15814806 c.4681G>A p.A1561T missense 0.00012355●●●●●●
70. 15831308 c.3291C>T p.A1097A splice site 0.00011549●●●●●●
71. 15812196 c.5271C>A p.D1757E missense 0.00011209●●●●●●
72. 15811108 c.5393G>A p.R1798Q missense 0.00010723●●●●●●
73. 15811005 c.5496G>C p.Q1832H missense 0.00010721●●●●●●
74. 15820787 c.3776C>T p.A1259V missense 0.00010709●●●●●●
75. 15851677 c.1575+7_1575+8insTGCCC splice site 0.00009905●●●●●●
76. 15810990 c.5504+7G>A splice site 0.00009898●●●●●●
77. 15809106 c.5528C>T p.S1843L missense 0.00009078●●●●●●
78. 15811051 c.5450C>T p.A1817V missense 0.00009065●●●●●●
79. 15835532 c.2653-6G>C splice site 0.00009061●●●●●●
80. 15814100 c.4861A>C p.K1621Q missense 0.00008246●●●●●●
81. 15851685 c.1574C>T p.P525L missense 0.00008245●●●●●●
82. 15811031 c.5470G>A p.A1824T missense 0.00008242●●●●●●
83. 15932048 c.62T>C p.I21T missense 0.00008237●●●●●●
84. 15815328 c.4529A>G p.K1510R missense 0.00008237●●●●●●
85. 15844183 c.1870C>T p.R624C missense 0.00007977●●●●●●
86. 15818834 c.3874G>C p.V1292L missense 0.00007528●●●●●●
87. 15808785 c.5767G>A p.A1923T missense 0.00007444●●●●●●
88. 15814100 c.4861_4863delAAG p.Lys1621del inframe 0.00007419●●●●●●
89. 15818586 c.4034G>A p.R1345Q missense 0.00007415●●●●●●
90. 15818038 c.4345A>C p.K1449Q missense 0.00007414●●●●●●
91. 15813531 c.4993C>T p.R1665C missense 0.00007413●●●●●●
92. 15932126 c.-17G>C splice site 0.00006730●●●●●●
93. 15808943 c.5614-5G>A splice site 0.00006620●●●●●●
94. 15831300 c.3293+6G>C splice site 0.00006602●●●●●●
95. 15832533 c.3010C>G p.L1004V missense 0.00006591●●●●●●
96. 15818551 c.4069G>A p.E1357K missense 0.00006591●●●●●●
97. 15835532 c.2653-6G>A splice site 0.00006590●●●●●●
98. 15853518 c.1316G>A p.R439H missense 0.00006589●●●●●●
99. 15814135 c.4826G>A p.R1609Q missense 0.00005846●●●●●●
100. 15847252 c.1863C>T p.D621D splice site 0.00005778●●●●●●
101. 15831426 c.3173G>A p.R1058Q missense 0.00005770●●●●●●
102. 15818008 c.4365+10G>A splice site 0.00005769●●●●●●
103. 15847276 c.1839G>C p.K613N missense 0.00005769●●●●●●
104. 15809038 c.5596G>A p.E1866K missense 0.00005769●●●●●●
105. 15932077 c.33G>T p.E11D missense 0.00005768●●●●●●
106. 15818530 c.4090C>T p.R1364C missense 0.00005767●●●●●●
107. 15831364 c.3235G>A p.A1079T missense 0.00005767●●●●●●
108. 15815347 c.4510C>T p.R1504W missense 0.00005766●●●●●●
109. 15820797 c.3766_3768delAAG inframe 0.00005766●●●●●●
110. 15841429 c.2409A>G splice site 0.00005766●●●●●●
111. 15814061 c.4900G>A p.D1634N missense 0.00005766●●●●●●
112. 15818065 c.4318C>T p.R1440W missense 0.00005766●●●●●●
113. 15857704 c.1078G>A p.V360I missense 0.00005765●●●●●●
114. 15865471 c.988G>A p.V330M missense 0.00005765●●●●●●
115. 15931910 c.200A>G p.K67R missense 0.00005765●●●●●●
116. 15812273 c.5194C>T p.R1732C missense 0.00005620●●●●●●
117. 15818256 c.4127C>T p.S1376L missense 0.00005037●●●●●●
118. 15814126 c.4835G>A p.R1612H missense 0.00004978●●●●●●
119. 15820736 c.3827C>T p.A1276V missense 0.00004950●●●●●●
120. 15808886 c.5666C>T p.A1889V missense 0.00004950●●●●●●
121. 15818776 c.3932C>T p.A1311V missense 0.00004948●●●●●●
122. 15820758 c.3805A>G p.S1269G missense 0.00004944●●●●●●
123. 15847292 c.1823A>G p.N608S missense 0.00004944●●●●●●
124. 15851865 c.1402-8G>C splice site 0.00004942●●●●●●
125. 15872669 c.758C>T p.T253M missense 0.00004942●●●●●●
126. 15826461 c.3611C>T p.A1204V missense 0.00004942●●●●●●
127. 15797898 c.5869G>C p.E1957Q missense 0.00004942●●●●●●
128. 15797979 c.5788_5789insTTC p.R1930delinsLR inframe 0.00004942●●●●●●
129. 15841493 c.2345G>A p.R782Q missense 0.00004942●●●●●●
130. 15814018 c.4943G>A p.R1648H missense 0.00004942●●●●●●
131. 15814752 c.4735G>A p.D1579N missense 0.00004942●●●●●●
132. 15812211 c.5256G>A p.M1752I missense 0.00004487●●●●●●
133. 15812198 c.5269G>A p.D1757N missense 0.00004326●●●●●●
134. 15812258 c.5209C>T p.R1737W missense 0.00004324●●●●●●
135. 15813159 c.5089G>A p.A1697T missense 0.00004206●●●●●●
136. 15842022 c.2062G>A p.G688S missense 0.00004173●●●●●●
137. 15841985 c.2099G>A p.R700Q missense 0.00004141●●●●●●
138. 15808944 c.5614-6C>T splice site 0.00004138●●●●●●
139. 15829434 c.3295C>T p.L1099F missense 0.00004132●●●●●●
140. 15831299 c.3293+7G>A splice site 0.00004126●●●●●●
141. 15811095 c.5406C>G p.H1802Q missense 0.00004123●●●●●●
142. 15820755 c.3808G>A p.D1270N missense 0.00004120●●●●●●
143. 15818604 c.4016G>A p.R1339H missense 0.00004120●●●●●●
144. 15818635 c.3985C>T p.R1329W missense 0.00004120●●●●●●
145. 15832439 c.3104T>C p.M1035T missense 0.00004119●●●●●●
146. 15835533 c.2653-7C>T splice site 0.00004119●●●●●●
147. 15829354 c.3375G>C p.E1125D missense 0.00004118●●●●●●
148. 15815454 c.4403C>T p.A1468V missense 0.00004118●●●●●●
149. 15814008 c.4953G>C p.Q1651H missense 0.00004118●●●●●●
150. 15797894 c.5873C>T p.T1958M missense 0.00004118●●●●●●
151. 15844149 c.1904C>T p.T635M missense 0.00003995●●●●●●
152. 15812179 c.5288C>T p.T1763I missense 0.00003360●●●●●●
153. 15811208 c.5296-3C>G splice site 0.00003354●●●●●●
154. 15818834 c.3874G>A p.V1292I missense 0.00003346●●●●●●
155. 15842016 c.2068C>G p.L690V missense 0.00003332●●●●●●
156. 15813141 c.5107C>T p.R1703C missense 0.00003323●●●●●●
157. 15811165 c.5336C>A p.T1779K missense 0.00003315●●●●●●
158. 15808933 c.5619G>C p.E1873D missense 0.00003305●●●●●●
159. 15813099 c.5149C>A p.L1717M missense 0.00003305●●●●●●
160. 15841911 c.2173C>T p.R725C missense 0.00003301●●●●●●
161. 15808862 c.5690A>G p.N1897S missense 0.00003300●●●●●●
162. 15811073 c.5428T>C p.S1810P missense 0.00003298●●●●●●
163. 15811079 c.5422G>A p.V1808I missense 0.00003298●●●●●●
164. 15818560 c.4060G>A p.E1354K missense 0.00003296●●●●●●
165. 15831401 c.3198C>G p.D1066E missense 0.00003296●●●●●●
166. 15853572 c.1262T>C p.V421A missense 0.00003296●●●●●●
167. 15818529 c.4091G>A p.R1364H missense 0.00003296●●●●●●
168. 15813530 c.4994G>A p.R1665H missense 0.00003295●●●●●●
169. 15841518 c.2320G>A p.V774I missense 0.00003295●●●●●●
170. 15829296 c.3433G>A p.G1145S missense 0.00003295●●●●●●
171. 15813479 c.5045C>G p.A1682G missense 0.00003295●●●●●●
172. 15814781 c.4706T>C p.M1569T missense 0.00003295●●●●●●
173. 15932016 c.94G>A p.A32T missense 0.00003295●●●●●●
174. 15865524 c.935A>G p.N312S missense 0.00003295●●●●●●
175. 15931809 c.301G>A p.V101M missense 0.00003295●●●●●●
176. 15853533 c.1301G>A p.R434H missense 0.00003295●●●●●●
177. 15812301 c.5172-6C>T splice site 0.00003152●●●●●●
178. 15812291 c.5176G>A p.A1726T missense 0.00002579●●●●●●
179. 15818272 c.4117-6T>G splice site 0.00002531●●●●●●
180. 15813155 c.5093C>T p.A1698V missense 0.00002515●●●●●●
181. 15880487 c.633G>T splice site 0.00002492●●●●●●
182. 15811171 c.5330G>A p.R1777H missense 0.00002489●●●●●●
183. 15831475 c.3124C>T p.R1042W missense 0.00002487●●●●●●
184. 15826414 c.3651+7C>G splice site 0.00002482●●●●●●
185. 15813087 c.5161C>A p.L1721M missense 0.00002478●●●●●●
186. 15844053 c.2000C>T p.T667M missense 0.00002477●●●●●●
187. 15850375 c.1576-4A>G splice site 0.00002476●●●●●●
188. 15820727 c.3836A>G p.N1279S missense 0.00002476●●●●●●
189. 15853589 c.1249-4dupG splice site 0.00002476●●●●●●
190. 15839010 c.2496G>C p.W832C missense 0.00002474●●●●●●
191. 15876242 c.726C>T p.F242F splice site 0.00002473●●●●●●
192. 15814691 c.4791+5G>A splice site 0.00002472●●●●●●
193. 15831390 c.3209A>G p.Q1070R missense 0.00002472●●●●●●
194. 15835714 c.2555A>G p.E852G missense 0.00002472●●●●●●
195. 15818548 c.4072G>T p.A1358S missense 0.00002472●●●●●●
196. 15818609 c.4011G>C p.K1337N missense 0.00002472●●●●●●
197. 15809053 c.5581G>A p.E1861K missense 0.00002472●●●●●●
198. 15811058 c.5443A>G p.T1815A missense 0.00002472●●●●●●
199. 15818025 c.4358T>C p.F1453S missense 0.00002472●●●●●●
200. 15818613 c.4007C>T p.T1336M missense 0.00002472●●●●●●
201. 15815377 c.4480G>A p.E1494K missense 0.00002471●●●●●●
202. 15932057 c.53A>G p.K18R missense 0.00002471●●●●●●
203. 15826469 c.3603C>G p.H1201Q missense 0.00002471●●●●●●
204. 15814770 c.4717A>G p.K1573E missense 0.00002471●●●●●●
205. 15829337 c.3392G>A p.R1131Q missense 0.00002471●●●●●●
206. 15797970 c.5797G>A p.E1933K missense 0.00002471●●●●●●
207. 15814827 c.4660G>A p.E1554K missense 0.00002471●●●●●●
208. 15814740 c.4747C>T p.R1583W missense 0.00002471●●●●●●
209. 15841518 c.2320G>C p.V774L missense 0.00002471●●●●●●
210. 15826509 c.3563G>A p.R1188Q missense 0.00002471●●●●●●
211. 15815346 c.4511G>A p.R1504Q missense 0.00002471●●●●●●
212. 15820904 c.3659C>T p.A1220V missense 0.00002471●●●●●●
213. 15931905 c.205G>A p.V69I missense 0.00002471●●●●●●
214. 15832508 c.3035C>T p.T1012M missense 0.00002471●●●●●●
215. 15851731 c.1528G>A p.D510N missense 0.00002471●●●●●●
216. 15841744 c.2237C>G p.A746G missense 0.00002471●●●●●●
217. 15820851 c.3712G>A p.G1238R missense 0.00002471●●●●●●
218. 15841566 c.2272C>A p.P758T missense 0.00002471●●●●●●
219. 15814739 c.4748G>A p.R1583Q missense 0.00002471●●●●●●
220. 15829389 c.3340C>T p.R1114W missense 0.00002471●●●●●●
221. 15917127 c.487C>T p.R163W missense 0.00002471●●●●●●
222. 15820880 c.3683C>T p.T1228M missense 0.00002471●●●●●●
223. 15813530 c.4994G>T p.R1665L missense 0.00002471●●●●●●
224. 15820851 c.3712G>C p.G1238R missense 0.00002471●●●●●●
225. 15797978 c.5789G>A p.R1930Q missense 0.00002471●●●●●●
226. 15931995 c.115C>G p.P39A missense 0.00002471●●●●●●
227. 15820894 c.3669C>A p.D1223E missense 0.00002471●●●●●●
228. 15818056 c.4327G>A p.V1443M missense 0.00002471●●●●●●
229. 15865441 c.1018G>A p.E340K missense 0.00002471●●●●●●
230. 15831372 c.3227C>T p.A1076V missense 0.00002471●●●●●●
231. 15812225 c.5242_5244delGAG p.Glu1748del inframe 0.00001891●●●●●●
232. 15814163 c.4798G>A p.E1600K missense 0.00001800●●●●●●
233. 15880593 c.531-4T>C splice site 0.00001780●●●●●●
234. 15844129 c.1924G>A p.A642T missense 0.00001766●●●●●●
235. 15818847 c.3861T>C p.N1287N splice site 0.00001711●●●●●●
236. 15812189 c.5278C>T p.R1760C missense 0.00001704●●●●●●
237. 15818273 c.4117-7C>T splice site 0.00001688●●●●●●
238. 15813153 c.5095G>A p.A1699T missense 0.00001675●●●●●●
239. 15818248 c.4135A>C p.K1379Q missense 0.00001672●●●●●●
240. 15813146 c.5102G>A p.R1701K missense 0.00001667●●●●●●
241. 15812163 c.5295+9C>T splice site 0.00001667●●●●●●
242. 15811187 c.5314G>C p.E1772Q missense 0.00001665●●●●●●
243. 15813145 c.5103G>T p.R1701S missense 0.00001664●●●●●●
244. 15880488 c.632C>T p.T211M missense 0.00001661●●●●●●
245. 15818224 c.4159G>A p.V1387M missense 0.00001661●●●●●●
246. 15820699 c.3858+6G>A splice site 0.00001661●●●●●●
247. 15880487 c.633G>A splice site 0.00001661●●●●●●
248. 15814127 c.4834C>T p.R1612C missense 0.00001660●●●●●●
249. 15808946 c.5614-8C>T splice site 0.00001656●●●●●●
250. 15813120 c.5128A>G p.K1710E missense 0.00001654●●●●●●
251. 15808794 c.5758G>A p.E1920K missense 0.00001653●●●●●●
252. 15818196 c.4187G>A p.R1396K missense 0.00001653●●●●●●
253. 15835324 c.2855T>C p.M952T missense 0.00001652●●●●●●
254. 15813090 c.5158A>C p.S1720R missense 0.00001652●●●●●●
255. 15844038 c.2015C>T p.T672M missense 0.00001651●●●●●●
256. 15844003 c.2050G>A p.E684K missense 0.00001651●●●●●●
257. 15811126 c.5375G>A p.R1792Q missense 0.00001651●●●●●●
258. 15808925 c.5627A>G p.N1876S missense 0.00001651●●●●●●
259. 15811130 c.5371G>A p.E1791K missense 0.00001651●●●●●●
260. 15808924 c.5628T>A p.N1876K missense 0.00001651●●●●●●
261. 15808862 c.5690A>C p.N1897T missense 0.00001650●●●●●●
262. 15808901 c.5651G>A p.R1884K missense 0.00001650●●●●●●
263. 15839063 c.2443G>A p.A815T missense 0.00001650●●●●●●
264. 15811109 c.5392C>T p.R1798W missense 0.00001650●●●●●●
265. 15808911 c.5641C>A p.Q1881K missense 0.00001650●●●●●●
266. 15811116 c.5385G>C p.K1795N missense 0.00001650●●●●●●
267. 15811091 c.5410A>C p.M1804L missense 0.00001649●●●●●●
268. 15811013 c.5488G>A p.V1830I missense 0.00001649●●●●●●
269. 15818183 c.4200G>T p.E1400D missense 0.00001649●●●●●●
270. 15818179 c.4204G>A p.E1402K missense 0.00001649●●●●●●
271. 15818774 c.3934T>C p.S1312P missense 0.00001649●●●●●●
272. 15820746 c.3817C>T p.R1273W missense 0.00001649●●●●●●
273. 15811105 c.5396G>A p.S1799N missense 0.00001649●●●●●●
274. 15815271 c.4578+8G>C splice site 0.00001649●●●●●●
275. 15847266 c.1849G>A p.D617N missense 0.00001649●●●●●●
276. 15811081 c.5420C>G p.A1807G missense 0.00001649●●●●●●
277. 15818173 c.4210C>G p.L1404V missense 0.00001649●●●●●●
278. 15811001 c.5500G>A p.A1834T missense 0.00001649●●●●●●
279. 15850306 c.1641G>C p.K547N missense 0.00001648●●●●●●
280. 15818544 c.4076A>G p.K1359R missense 0.00001648●●●●●●
281. 15811052 c.5449G>A p.A1817T missense 0.00001648●●●●●●
282. 15820842 c.3721C>T p.R1241W missense 0.00001648●●●●●●
283. 15811028 c.5473C>G p.Q1825E missense 0.00001648●●●●●●
284. 15818155 c.4228_4230delGAG p.Glu1410del inframe 0.00001648●●●●●●
285. 15831392 c.3207G>C p.E1069D missense 0.00001648●●●●●●
286. 15841778 c.2203G>A p.A735T missense 0.00001648●●●●●●
287. 15847347 c.1768G>A p.A590T missense 0.00001648●●●●●●
288. 15847310 c.1805A>G p.N602S missense 0.00001648●●●●●●
289. 15818158 c.4225G>A p.E1409K missense 0.00001648●●●●●●
290. 15831337 c.3262A>G p.K1088E missense 0.00001648●●●●●●
291. 15850281 c.1666G>A p.E556K missense 0.00001648●●●●●●
292. 15831395 c.3204C>A p.H1068Q missense 0.00001648●●●●●●
293. 15831339 c.3260A>G p.K1087R missense 0.00001648●●●●●●
294. 15841783 c.2198C>T p.A733V missense 0.00001648●●●●●●
295. 15809050 c.5584C>T p.R1862C missense 0.00001648●●●●●●
296. 15814881 c.4606G>A p.A1536T missense 0.00001648●●●●●●
297. 15841587 c.2251A>G p.I751V missense 0.00001648●●●●●●
298. 15818148 c.4235C>T p.A1412V missense 0.00001648●●●●●●
299. 15835391 c.2788C>T p.R930C missense 0.00001648●●●●●●
300. 15841786 c.2195C>T p.A732V missense 0.00001648●●●●●●
301. 15850272 c.1675A>T p.S559C missense 0.00001648●●●●●●
302. 15841467 c.2371A>G p.M791V missense 0.00001647●●●●●●
303. 15931958 c.152A>T p.K51M missense 0.00001647●●●●●●
304. 15857693 c.1089G>C p.K363N missense 0.00001647●●●●●●
305. 15814057 c.4904C>G p.S1635C missense 0.00001647●●●●●●
306. 15917266 c.348G>A splice site 0.00001647●●●●●●
307. 15814019 c.4942C>T p.R1648C missense 0.00001647●●●●●●
308. 15833945 c.2960T>C p.I987T missense 0.00001647●●●●●●
309. 15814759 c.4728C>G p.F1576L missense 0.00001647●●●●●●
310. 15818069 c.4314C>A p.N1438K missense 0.00001647●●●●●●
311. 15917169 c.445G>A p.E149K missense 0.00001647●●●●●●
312. 15815430 c.4427C>G p.A1476G missense 0.00001647●●●●●●
313. 15841476 c.2362G>T p.D788Y missense 0.00001647●●●●●●
314. 15835524 c.2655G>A splice site 0.00001647●●●●●●
315. 15865492 c.967G>A p.D323N missense 0.00001647●●●●●●
316. 15814819 c.4668A>C p.Q1556H missense 0.00001647●●●●●●
317. 15835669 c.2600G>A p.R867Q missense 0.00001647●●●●●●
318. 15797934 c.5833C>T p.R1945C missense 0.00001647●●●●●●
319. 15854464 c.1181G>A p.R394K missense 0.00001647●●●●●●
320. 15917189 c.425A>C p.Y142S missense 0.00001647●●●●●●
321. 15797877 c.5890G>C p.D1964H missense 0.00001647●●●●●●
322. 15851744 c.1515G>T p.E505D missense 0.00001647●●●●●●
323. 15931906 c.204G>C p.K68N missense 0.00001647●●●●●●
324. 15797880 c.5887G>A p.A1963T missense 0.00001647●●●●●●
325. 15826453 c.3619G>A p.E1207K missense 0.00001647●●●●●●
326. 15870006 c.818G>A p.R273H missense 0.00001647●●●●●●
327. 15815461 c.4396A>C p.K1466Q missense 0.00001647●●●●●●
328. 15872658 c.769G>A p.V257M missense 0.00001647●●●●●●
329. 15835662 c.2607G>C p.Q869H missense 0.00001647●●●●●●
330. 15841509 c.2329C>A p.H777N missense 0.00001647●●●●●●
331. 15835611 c.2652+6T>G splice site 0.00001647●●●●●●
332. 15835520 c.2659G>A p.E887K missense 0.00001647●●●●●●
333. 15829332 c.3397G>A p.A1133T missense 0.00001647●●●●●●
334. 15835690 c.2579A>T p.E860V missense 0.00001647●●●●●●
335. 15844185 c.1868A>G p.D623G missense 0.00001599●●●●●●
336. 15844182 c.1871G>C p.R624P missense 0.00001534●●●●●●
337. 15844167 c.1886A>G p.D629G missense 0.00001198●●●●●●
338. 15812243 c.5224G>C p.E1742Q missense 0.00001144●●●●●●
339. 15812242 c.5225A>G p.E1742G missense 0.00001122●●●●●●
340. 15844156 c.1897A>C p.K633Q missense 0.00001064●●●●●●
341. 15812230 c.5237A>G p.E1746G missense 0.00001009●●●●●●
342. 15814175 c.4792-6G>C splice site 0.00000971●●●●●●
343. 15814175 c.4792-6G>A splice site 0.00000971●●●●●●
344. 15814174 c.4792-5C>T splice site 0.00000968●●●●●●
345. 15812222 c.5245C>A p.Q1749K missense 0.00000945●●●●●●
346. 15812219 c.5248G>A p.G1750S missense 0.00000938●●●●●●
347. 15814167 c.4794T>A splice site 0.00000931●●●●●●
348. 15812203 c.5264T>C p.M1755T missense 0.00000878●●●●●●
349. 15814155 c.4806G>C p.E1602D missense 0.00000866●●●●●●
350. 15812197 c.5270A>T p.D1757V missense 0.00000862●●●●●●
351. 15812195 c.5272C>T p.R1758W missense 0.00000862●●●●●●
352. 15814153 c.4808C>A p.T1603K missense 0.00000859●●●●●●
353. 15814153 c.4808C>T p.T1603M missense 0.00000859●●●●●●
354. 15813172 c.5083-7_5083-4delCACC splice site 0.00000847●●●●●●
355. 15813169 c.5083-4C>G splice site 0.00000847●●●●●●
356. 15818270 c.4117-4G>A splice site 0.00000844●●●●●●
357. 15814142 c.4819G>A p.D1607N missense 0.00000843●●●●●●
358. 15818840 c.3868G>A p.E1290K missense 0.00000843●●●●●●
359. 15850193 c.1749+5C>T splice site 0.00000841●●●●●●
360. 15818260 c.4123G>A p.D1375N missense 0.00000841●●●●●●
361. 15850194 c.1749+4C>G splice site 0.00000840●●●●●●
362. 15932125 c.-16G>A splice site 0.00000840●●●●●●
363. 15818836 c.3872G>A p.S1291N missense 0.00000839●●●●●●
364. 15813156 c.5092G>T p.A1698S missense 0.00000839●●●●●●
365. 15932124 c.-15_-14delGAinsA splice site 0.00000838●●●●●●
366. 15842028 c.2059-3C>T splice site 0.00000838●●●●●●
367. 15811204 c.5297C>T p.A1766V missense 0.00000838●●●●●●
368. 15811203 c.5298C>T splice site 0.00000838●●●●●●
369. 15932124 c.-15_-14delGAinsGT splice site 0.00000838●●●●●●
370. 15811202 c.5299G>A p.E1767K missense 0.00000837●●●●●●
371. 15818834 c.3874G>T p.V1292F missense 0.00000836●●●●●●
372. 15839102 c.2412-8C>T splice site 0.00000833●●●●●●
373. 15839102 c.2412-8C>G splice site 0.00000833●●●●●●
374. 15818233 c.4150G>C p.A1384P missense 0.00000833●●●●●●
375. 15813144 c.5104G>A p.A1702T missense 0.00000832●●●●●●
376. 15839098 c.2412-4C>T splice site 0.00000831●●●●●●
377. 15813141 c.5107C>G p.R1703G missense 0.00000831●●●●●●
378. 15820698 c.3858+7A>G splice site 0.00000831●●●●●●
379. 15808760 c.5786+6G>A splice site 0.00000830●●●●●●
380. 15818221 c.4162G>A p.E1388K missense 0.00000830●●●●●●
381. 15818212 c.4171G>A p.E1391K missense 0.00000829●●●●●●
382. 15831476 c.3123G>C splice site 0.00000829●●●●●●
383. 15813131 c.5117C>T p.A1706V missense 0.00000829●●●●●●
384. 15818816 c.3892G>A p.E1298K missense 0.00000829●●●●●●
385. 15844089 c.1964A>C p.Q655P missense 0.00000829●●●●●●
386. 15811155 c.5346G>C p.K1782N missense 0.00000828●●●●●●
387. 15841979 c.2105A>G p.N702S missense 0.00000828●●●●●●
388. 15808943 c.5614-5G>T splice site 0.00000828●●●●●●
389. 15808946 c.5614-8delC splice site 0.00000828●●●●●●
390. 15813127 c.5121C>G p.D1707E missense 0.00000828●●●●●●
391. 15831474 c.3125G>A p.R1042Q missense 0.00000828●●●●●●
392. 15835315 c.2859+5G>C splice site 0.00000827●●●●●●
393. 15880519 c.601T>G p.S201A missense 0.00000827●●●●●●
394. 15811147 c.5354G>A p.S1785N missense 0.00000827●●●●●●
395. 15814118 c.4843G>A p.A1615T missense 0.00000827●●●●●●
396. 15820716 c.3847C>A p.H1283N missense 0.00000827●●●●●●
397. 15880522 c.598T>C p.S200P missense 0.00000827●●●●●●
398. 15835753 c.2521-5_2521-4dupTG splice site 0.00000827●●●●●●
399. 15813123 c.5125G>A p.E1709K missense 0.00000827●●●●●●
400. 15811142 c.5359C>T p.R1787W missense 0.00000827●●●●●●
401. 15835316 c.2859+4A>C splice site 0.00000827●●●●●●
402. 15809133 c.5505-4G>A splice site 0.00000827●●●●●●
403. 15853592 c.1249-7T>C splice site 0.00000827●●●●●●
404. 15841968 c.2116G>T p.E706X nonsense 0.00000827●●●●●●
405. 15813083 c.5165C>T p.S1722L missense 0.00000826●●●●●●
406. 15808805 c.5747C>A p.A1916D missense 0.00000826●●●●●●
407. 15865577 c.890-8C>G splice site 0.00000826●●●●●●
408. 15839080 c.2426G>A p.R809K missense 0.00000826●●●●●●
409. 15814913 c.4579-5G>A splice site 0.00000826●●●●●●
410. 15865575 c.890-6T>A splice site 0.00000826●●●●●●
411. 15831450 c.3149G>A p.R1050Q missense 0.00000826●●●●●●
412. 15808807 c.5745G>C p.E1915D missense 0.00000826●●●●●●
413. 15841959 c.2125C>T p.R709C missense 0.00000826●●●●●●
414. 15808809 c.5743G>A p.E1915K missense 0.00000826●●●●●●
415. 15839071 c.2435A>G p.Q812R missense 0.00000826●●●●●●
416. 15829434 c.3295C>G p.L1099V missense 0.00000826●●●●●●
417. 15844063 c.1990C>G p.L664V missense 0.00000826●●●●●●
418. 15820719 c.3844G>C p.V1282L missense 0.00000826●●●●●●
419. 15865576 c.890-7C>T splice site 0.00000826●●●●●●
420. 15841945 c.2139G>C p.Q713H missense 0.00000826●●●●●●
421. 15838983 c.2520+3G>T splice site 0.00000826●●●●●●
422. 15808797 c.5755C>T p.R1919C missense 0.00000826●●●●●●
423. 15811130 c.5371G>C p.E1791Q missense 0.00000826●●●●●●
424. 15814111 c.4850C>T p.A1617V missense 0.00000826●●●●●●
425. 15829434 c.3295C>A p.L1099I missense 0.00000826●●●●●●
426. 15811133 c.5368C>T p.L1790F missense 0.00000826●●●●●●
427. 15820722 c.3841A>G p.K1281E missense 0.00000826●●●●●●
428. 15809013 c.5613+8_5613+9delCT splice site 0.00000826●●●●●●
429. 15853591 c.1249-6_1249-5dupCT splice site 0.00000826●●●●●●
430. 15808875 c.5677T>A p.S1893T missense 0.00000825●●●●●●
431. 15851681 c.1575+3G>A splice site 0.00000825●●●●●●
432. 15831301 c.3293+5C>T splice site 0.00000825●●●●●●
433. 15829428 c.3301G>A p.D1101N missense 0.00000825●●●●●●
434. 15811122 c.5379G>C p.Q1793H missense 0.00000825●●●●●●
435. 15814908 c.4579G>A p.V1527I missense 0.00000825●●●●●●
436. 15841926 c.2158G>A p.V720I missense 0.00000825●●●●●●
437. 15808853 c.5699G>A p.R1900H missense 0.00000825●●●●●●
438. 15831315 c.3284C>T p.A1095V missense 0.00000825●●●●●●
439. 15820726 c.3837T>G p.N1279K missense 0.00000825●●●●●●
440. 15810991 c.5504+6C>T splice site 0.00000825●●●●●●
441. 15809017 c.5613+4G>A splice site 0.00000825●●●●●●
442. 15835336 c.2843T>C p.M948T missense 0.00000825●●●●●●
443. 15808863 c.5689A>C p.N1897H missense 0.00000825●●●●●●
444. 15841896 c.2180+8C>T splice site 0.00000825●●●●●●
445. 15808877 c.5675A>C p.E1892A missense 0.00000825●●●●●●
446. 15808824 c.5728G>A p.A1910T missense 0.00000825●●●●●●
447. 15847253 c.1862A>G p.D621G missense 0.00000825●●●●●●
448. 15844047 c.2006G>T p.R669L missense 0.00000825●●●●●●
449. 15841929 c.2155A>G p.I719V missense 0.00000825●●●●●●
450. 15808856 c.5696A>C p.N1899T missense 0.00000825●●●●●●
451. 15865565 c.894C>A p.D298E missense 0.00000825●●●●●●
452. 15818187 c.4196A>C p.K1399T missense 0.00000825●●●●●●
453. 15818788 c.3920C>T p.A1307V missense 0.00000825●●●●●●
454. 15810999 c.5502C>G splice site 0.00000825●●●●●●
455. 15811010 c.5491G>C p.E1831Q missense 0.00000825●●●●●●
456. 15844011 c.2042C>A p.P681H missense 0.00000825●●●●●●
457. 15835351 c.2828C>A p.A943D missense 0.00000825●●●●●●
458. 15808881 c.5671G>A p.E1891K missense 0.00000825●●●●●●
459. 15808874 c.5678C>T p.S1893F missense 0.00000825●●●●●●
460. 15808827 c.5725G>A p.E1909K missense 0.00000825●●●●●●
461. 15850218 c.1729A>G p.I577V missense 0.00000825●●●●●●
462. 15818181 c.4202T>C p.I1401T missense 0.00000825●●●●●●
463. 15844047 c.2006G>A p.R669H missense 0.00000825●●●●●●
464. 15808916 c.5636T>C p.V1879A missense 0.00000825●●●●●●
465. 15850378 c.1576-7C>G splice site 0.00000825●●●●●●
466. 15850364 c.1583C>T p.P528L missense 0.00000825●●●●●●
467. 15829425 c.3304G>A p.E1102K missense 0.00000825●●●●●●
468. 15820734 c.3829G>A p.E1277K missense 0.00000825●●●●●●
469. 15841896 c.2180+8C>A splice site 0.00000825●●●●●●
470. 15844024 c.2029C>T p.R677C missense 0.00000825●●●●●●
471. 15847368 c.1750-3C>T splice site 0.00000825●●●●●●
472. 15808887 c.5665G>A p.A1889T missense 0.00000825●●●●●●
473. 15814902 c.4585G>C p.E1529Q missense 0.00000825●●●●●●
474. 15808876 c.5676_5677insGAG p.Glu1892dup inframe 0.00000825●●●●●●
475. 15808839 c.5713C>T p.R1905W missense 0.00000825●●●●●●
476. 15818181 c.4202T>A p.I1401N missense 0.00000825●●●●●●
477. 15808868 c.5684G>A p.R1895H missense 0.00000825●●●●●●
478. 15844048 c.2005C>A p.R669S missense 0.00000825●●●●●●
479. 15810990 c.5504+7G>T splice site 0.00000825●●●●●●
480. 15820746 c.3817C>G p.R1273G missense 0.00000824●●●●●●
481. 15841732 c.2249T>A p.M750K missense 0.00000824●●●●●●
482. 15833921 c.2984A>G p.N995S missense 0.00000824●●●●●●
483. 15826446 c.3626C>T p.T1209I missense 0.00000824●●●●●●
484. 15841800 c.2181C>T splice site 0.00000824●●●●●●
485. 15872650 c.777_778insTGT p.Ala259_Asn260insCys inframe 0.00000824●●●●●●
486. 15820882 c.3681G>T p.Q1227H missense 0.00000824●●●●●●
487. 15850258 c.1689C>A p.F563L missense 0.00000824●●●●●●
488. 15835615 c.2652+2T>C essential splice site 0.00000824●●●●●●
489. 15872646 c.781A>G p.I261V missense 0.00000824●●●●●●
490. 15841765 c.2216G>C p.G739A missense 0.00000824●●●●●●
491. 15820808 c.3755A>T p.H1252L missense 0.00000824●●●●●●
492. 15814735 c.4752C>G p.D1584E missense 0.00000824●●●●●●
493. 15865482 c.977T>C p.F326S missense 0.00000824●●●●●●
494. 15847347 c.1768G>T p.A590S missense 0.00000824●●●●●●
495. 15818620 c.4000G>T p.V1334L missense 0.00000824●●●●●●
496. 15847308 c.1807G>A p.V603M missense 0.00000824●●●●●●
497. 15831415 c.3184G>A p.G1062S missense 0.00000824●●●●●●
498. 15815495 c.4366-4G>A splice site 0.00000824●●●●●●
499. 15797958 c.5809G>A p.V1937I missense 0.00000824●●●●●●
500. 15854490 c.1155G>C p.M385I missense 0.00000824●●●●●●
501. 15818010 c.4365+8G>C splice site 0.00000824●●●●●●
502. 15829411 c.3318G>C p.K1106N missense 0.00000824●●●●●●
503. 15820743 c.3820G>A p.A1274T missense 0.00000824●●●●●●
504. 15818132 c.4251A>T p.K1417N missense 0.00000824●●●●●●
505. 15854431 c.1214G>A p.R405Q missense 0.00000824●●●●●●
506. 15835439 c.2740G>A p.A914T missense 0.00000824●●●●●●
507. 15829320 c.3409G>T p.A1137S missense 0.00000824●●●●●●
508. 15931905 c.205G>C p.V69L missense 0.00000824●●●●●●
509. 15833932 c.2973T>G p.D991E missense 0.00000824●●●●●●
510. 15829284 c.3445G>A p.E1149K missense 0.00000824●●●●●●
511. 15818035 c.4348C>G p.Q1450E missense 0.00000824●●●●●●
512. 15813563 c.4961T>C p.M1654T missense 0.00000824●●●●●●
513. 15832526 c.3017A>T p.E1006V missense 0.00000824●●●●●●
514. 15917210 c.404C>T p.S135L missense 0.00000824●●●●●●
515. 15854443 c.1202T>C p.I401T missense 0.00000824●●●●●●
516. 15813494 c.5030A>C p.E1677A missense 0.00000824●●●●●●
517. 15931853 c.257A>G p.K86R missense 0.00000824●●●●●●
518. 15797886 c.5881C>G p.R1961G missense 0.00000824●●●●●●
519. 15826506 c.3566C>T p.S1189F missense 0.00000824●●●●●●
520. 15818605 c.4015C>T p.R1339C missense 0.00000824●●●●●●
521. 15853480 c.1354G>A p.A452T missense 0.00000824●●●●●●
522. 15814889 c.4598C>T p.S1533F missense 0.00000824●●●●●●
523. 15865539 c.920A>G p.Y307C missense 0.00000824●●●●●●
524. 15872687 c.740G>A p.R247H missense 0.00000824●●●●●●
525. 15851791 c.1468A>T p.T490S missense 0.00000824●●●●●●
526. 15833981 c.2924C>T p.T975M missense 0.00000824●●●●●●
527. 15826530 c.3542A>C p.K1181T missense 0.00000824●●●●●●
528. 15854458 c.1187T>C p.I396T missense 0.00000824●●●●●●
529. 15835611 c.2652+6T>C splice site 0.00000824●●●●●●
530. 15869958 c.866C>T p.A289V missense 0.00000824●●●●●●
531. 15865536 c.923C>T p.T308I missense 0.00000824●●●●●●
532. 15850272 c.1675A>G p.S559G missense 0.00000824●●●●●●
533. 15841543 c.2295G>C p.Q765H missense 0.00000824●●●●●●
534. 15832478 c.3065C>A p.A1022D missense 0.00000824●●●●●●
535. 15820869 c.3694G>C p.E1232Q missense 0.00000824●●●●●●
536. 15814814 c.4673C>A p.T1558K missense 0.00000824●●●●●●
537. 15931995 c.115C>A p.P39T missense 0.00000824●●●●●●
538. 15865444 c.1015A>G p.S339G missense 0.00000824●●●●●●
539. 15847279 c.1836C>A p.D612E missense 0.00000824●●●●●●
540. 15841445 c.2393G>A p.R798H missense 0.00000824●●●●●●
541. 15814697 c.4790A>G p.Q1597R missense 0.00000824●●●●●●
542. 15820779 c.3784C>T p.Q1262X nonsense 0.00000824●●●●●●
543. 15814718 c.4769A>G p.K1590R missense 0.00000824●●●●●●
544. 15829215 c.3506+8G>A splice site 0.00000824●●●●●●
545. 15932033 c.77C>A p.A26D missense 0.00000824●●●●●●
546. 15865462 c.997A>T p.M333L missense 0.00000824●●●●●●
547. 15797979 c.5788C>T p.R1930X nonsense 0.00000824●●●●●●
548. 15818068 c.4315C>G p.Q1439E missense 0.00000824●●●●●●
549. 15835487 c.2692G>A p.A898T missense 0.00000824●●●●●●
550. 15931891 c.219A>T p.K73N missense 0.00000824●●●●●●
551. 15818049 c.4334A>G p.N1445S missense 0.00000824●●●●●●
552. 15814047 c.4914G>C p.K1638N missense 0.00000824●●●●●●
553. 15797933 c.5834G>A p.R1945H missense 0.00000824●●●●●●
554. 15931792 c.318G>C p.R106S missense 0.00000824●●●●●●
555. 15854446 c.1199G>C p.R400P missense 0.00000824●●●●●●
556. 15835652 c.2617A>G p.N873D missense 0.00000824●●●●●●
557. 15818121 c.4262C>A p.T1421N missense 0.00000824●●●●●●
558. 15797910 c.5857G>C p.G1953R missense 0.00000824●●●●●●
559. 15917185 c.429G>T p.K143N missense 0.00000824●●●●●●
560. 15818622 c.3998A>G p.N1333S missense 0.00000824●●●●●●
561. 15815439 c.4418G>T p.R1473I missense 0.00000824●●●●●●
562. 15813473 c.5051G>A p.S1684N missense 0.00000824●●●●●●
563. 15931758 c.345+7A>G splice site 0.00000824●●●●●●
564. 15853534 c.1300C>A p.R434S missense 0.00000824●●●●●●
565. 15835399 c.2780T>C p.M927T missense 0.00000824●●●●●●
566. 15865518 c.941T>C p.F314S missense 0.00000824●●●●●●
567. 15829247 c.3482G>A p.S1161N missense 0.00000824●●●●●●
568. 15815478 c.4379A>G p.E1460G missense 0.00000824●●●●●●
569. 15865419 c.1033+7C>G splice site 0.00000824●●●●●●
570. 15851685 c.1574C>A p.P525Q missense 0.00000824●●●●●●
571. 15847268 c.1847C>G p.A616G missense 0.00000824●●●●●●
572. 15931904 c.206T>C p.V69A missense 0.00000824●●●●●●
573. 15841739 c.2242A>G p.I748V missense 0.00000824●●●●●●
574. 15833922 c.2983A>G p.N995D missense 0.00000824●●●●●●
575. 15818561 c.4059C>A p.D1353E missense 0.00000824●●●●●●
576. 15872652 c.775delG p.Ala259ProfsTer8 frameshift 0.00000824●●●●●●
577. 15814848 c.4639C>G p.Q1547E missense 0.00000824●●●●●●
578. 15841572 c.2266delC p.Asp757ThrfsTer7 frameshift 0.00000824●●●●●●
579. 15831424 c.3175A>G p.K1059E missense 0.00000824●●●●●●
580. 15820850 c.3713G>C p.G1238A missense 0.00000824●●●●●●
581. 15818507 c.4113C>G p.I1371M missense 0.00000824●●●●●●
582. 15820822 c.3741G>C p.K1247N missense 0.00000824●●●●●●
583. 15932063 c.47T>C p.V16A missense 0.00000824●●●●●●
584. 15839047 c.2459A>G p.Q820R missense 0.00000824●●●●●●
585. 15820751 c.3812G>C p.G1271A missense 0.00000824●●●●●●
586. 15815497 c.4366-6T>C splice site 0.00000824●●●●●●
587. 15931977 c.133T>G p.F45V missense 0.00000824●●●●●●
588. 15857698 c.1084A>G p.K362E missense 0.00000824●●●●●●
589. 15797959 c.5808C>A p.F1936L missense 0.00000824●●●●●●
590. 15839017 c.2489G>A p.R830Q missense 0.00000824●●●●●●
591. 15820756 c.3807C>A p.S1269R missense 0.00000824●●●●●●
592. 15932077 c.33G>C p.E11D missense 0.00000824●●●●●●
593. 15854443 c.1202T>A p.I401N missense 0.00000824●●●●●●
594. 15811033 c.5468T>C p.I1823T missense 0.00000824●●●●●●
595. 15814006 c.4953+2T>C essential splice site 0.00000824●●●●●●
596. 15797886 c.5881C>T p.R1961X nonsense 0.00000824●●●●●●
597. 15854432 c.1213C>T p.R405X nonsense 0.00000824●●●●●●
598. 15835444 c.2735G>A p.R912Q missense 0.00000824●●●●●●
599. 15829324 c.3405C>G p.N1135K missense 0.00000824●●●●●●
600. 15917266 c.348G>T splice site 0.00000824●●●●●●
601. 15818035 c.4348C>T p.Q1450X nonsense 0.00000824●●●●●●
602. 15813570 c.4954G>A p.A1652T missense 0.00000824●●●●●●
603. 15811057 c.5444C>T p.T1815I missense 0.00000824●●●●●●
604. 15917220 c.394C>T p.P132S missense 0.00000824●●●●●●
605. 15833990 c.2915A>T p.E972V missense 0.00000824●●●●●●
606. 15826531 c.3541A>G p.K1181E missense 0.00000824●●●●●●
607. 15820858 c.3705C>A p.D1235E missense 0.00000824●●●●●●
608. 15853488 c.1346G>A p.R449Q missense 0.00000824●●●●●●
609. 15857727 c.1055C>T p.S352L missense 0.00000824●●●●●●
610. 15865546 c.913A>G p.N305D missense 0.00000824●●●●●●
611. 15851818 c.1441G>A p.E481K missense 0.00000824●●●●●●
612. 15820878 c.3685C>G p.L1229V missense 0.00000824●●●●●●
613. 15818530 c.4090C>A p.R1364S missense 0.00000824●●●●●●
614. 15814828 c.4659C>G p.D1553E missense 0.00000824●●●●●●
615. 15814028 c.4933A>C p.K1645Q missense 0.00000824●●●●●●
616. 15835370 c.2809_2810delAG p.Arg937GlyfsTer7 frameshift 0.00000824●●●●●●
617. 15869995 c.829G>A p.D277N missense 0.00000824●●●●●●
618. 15850336 c.1611G>C p.E537D missense 0.00000824●●●●●●
619. 15814797 c.4690C>T p.R1564W missense 0.00000824●●●●●●
620. 15841562 c.2276A>G p.N759S missense 0.00000824●●●●●●
621. 15832518 c.3025A>G p.S1009G missense 0.00000824●●●●●●
622. 15833936 c.2969T>C p.M990T missense 0.00000824●●●●●●
623. 15814841 c.4646A>T p.E1549V missense 0.00000824●●●●●●
624. 15832425 c.3118G>C p.E1040Q missense 0.00000824●●●●●●
625. 15865447 c.1012T>C p.F338L missense 0.00000824●●●●●●
626. 15841446 c.2392C>T p.R798C missense 0.00000824●●●●●●
627. 15815371 c.4486T>G p.L1496V missense 0.00000824●●●●●●
628. 15820796 c.3767A>G p.K1256R missense 0.00000824●●●●●●
629. 15814720 c.4767G>T p.E1589D missense 0.00000824●●●●●●
630. 15829220 c.3506+3G>T splice site 0.00000824●●●●●●
631. 15932040 c.70C>G p.P24A missense 0.00000824●●●●●●
632. 15865470 c.989T>C p.V330A missense 0.00000824●●●●●●
633. 15829415 c.3314A>T p.Q1105L missense 0.00000824●●●●●●
634. 15797924 c.5843T>C p.I1948T missense 0.00000824●●●●●●
635. 15818739 c.3963+6T>C splice site 0.00000824●●●●●●
636. 15829376 c.3353G>A p.G1118D missense 0.00000824●●●●●●
637. 15818071 c.4312A>C p.N1438H missense 0.00000824●●●●●●
638. 15814063 c.4898C>G p.A1633G missense 0.00000824●●●●●●
639. 15839027 c.2479C>A p.L827I missense 0.00000824●●●●●●
640. 15854504 c.1141G>A p.V381I missense 0.00000824●●●●●●
641. 15818064 c.4319G>A p.R1440Q missense 0.00000824●●●●●●
642. 15814048 c.4913A>G p.K1638R missense 0.00000824●●●●●●
643. 15931843 c.267C>A p.D89E missense 0.00000824●●●●●●
644. 15815481 c.4376A>T p.E1459V missense 0.00000824●●●●●●
645. 15865420 c.1033+6C>T splice site 0.00000824●●●●●●
646. 15815455 c.4402G>A p.A1468T missense 0.00000824●●●●●●
647. 15917170 c.444C>G p.H148Q missense 0.00000824●●●●●●
648. 15853560 c.1274C>T p.A425V missense 0.00000824●●●●●●
649. 15835401 c.2778G>T p.E926D missense 0.00000824●●●●●●
650. 15829254 c.3475C>A p.L1159M missense 0.00000824●●●●●●
651. 15814850 c.4637C>T p.T1546M missense 0.00000824●●●●●●
652. 15854516 c.1130-1G>T essential splice site 0.00000824●●●●●●
653. 15872673 c.754G>A p.V252I missense 0.00000824●●●●●●
654. 15833947 c.2958G>T p.E986D missense 0.00000824●●●●●●
655. 15797990 c.5787-10C>A splice site 0.00000824●●●●●●
656. 15853534 c.1300C>T p.R434C missense 0.00000824●●●●●●
657. 15833926 c.2979G>C p.Q993H missense 0.00000824●●●●●●
658. 15826471 c.3601C>T p.H1201Y missense 0.00000824●●●●●●
659. 15818565 c.4055T>C p.L1352P missense 0.00000824●●●●●●
660. 15814896 c.4591G>C p.E1531Q missense 0.00000824●●●●●●
661. 15876241 c.726+1G>A essential splice site 0.00000824●●●●●●
662. 15876247 c.721C>T p.R241X nonsense 0.00000824●●●●●●
663. 15818558 c.4062G>C p.E1354D missense 0.00000824●●●●●●
664. 15831404 c.3195C>A p.S1065R missense 0.00000824●●●●●●
665. 15820800 c.3763A>G p.K1255E missense 0.00000824●●●●●●
666. 15841476 c.2362G>A p.D788N missense 0.00000824●●●●●●
667. 15818524 c.4096A>T p.I1366F missense 0.00000824●●●●●●
668. 15835613 c.2652+4_2652+5delCC splice site 0.00000824●●●●●●
669. 15814754 c.4733G>A p.R1578K missense 0.00000824●●●●●●
670. 15932069 c.41T>C p.L14P missense 0.00000824●●●●●●
671. 15865510 c.949A>T p.I317F missense 0.00000824●●●●●●
672. 15841530 c.2308T>C p.F770L missense 0.00000824●●●●●●
673. 15820769 c.3794A>T p.Q1265L missense 0.00000824●●●●●●
674. 15820749 c.3814G>A p.E1272K missense 0.00000824●●●●●●
675. 15818160 c.4223A>G p.Y1408C missense 0.00000824●●●●●●
676. 15797971 c.5796C>A p.N1932K missense 0.00000824●●●●●●
677. 15815499 c.4366-8T>C splice site 0.00000824●●●●●●
678. 15931991 c.119C>T p.S40L missense 0.00000824●●●●●●
679. 15857719 c.1063C>A p.Q355K missense 0.00000824●●●●●●
680. 15826542 c.3530C>T p.T1177M missense 0.00000824●●●●●●
681. 15797963 c.5804C>A p.S1935Y missense 0.00000824●●●●●●
682. 15839033 c.2473G>A p.A825T missense 0.00000824●●●●●●
683. 15813435 c.5082+7C>A splice site 0.00000824●●●●●●
684. 15917247 c.367G>A p.V123M missense 0.00000824●●●●●●
685. 15854446 c.1199G>T p.R400L missense 0.00000824●●●●●●
686. 15811040 c.5461G>A p.A1821T missense 0.00000824●●●●●●
687. 15814046 c.4915G>A p.G1639R missense 0.00000824●●●●●●
688. 15835448 c.2731G>A p.V911M missense 0.00000824●●●●●●
689. 15829338 c.3391C>T p.R1131W missense 0.00000824●●●●●●
690. 15931763 c.345+2dupT splice site 0.00000824●●●●●●
691. 15835529 c.2653-3C>T splice site 0.00000824●●●●●●
692. 15851845 c.1414G>A p.E472K missense 0.00000824●●●●●●
693. 15834021 c.2884G>A p.E962K missense 0.00000824●●●●●●
694. 15829229 c.3500A>C p.E1167A missense 0.00000824●●●●●●
695. 15818634 c.3986G>A p.R1329Q missense 0.00000824●●●●●●
696. 15865507 c.952C>T p.P318S missense 0.00000824●●●●●●
697. 15831368 c.3231G>C p.Q1077H missense 0.00000824●●●●●●
698. 15814856 c.4631T>A p.M1544K missense 0.00000824●●●●●●
699. 15826528 c.3544G>T p.A1182S missense 0.00000824●●●●●●
700. 15815350 c.4507G>A p.E1503K missense 0.00000824●●●●●●
701. 15813469 c.5055G>C p.L1685F missense 0.00000824●●●●●●
702. 15853496 c.1338G>C p.K446N missense 0.00000824●●●●●●
703. 15818531 c.4089G>C p.E1363D missense 0.00000824●●●●●●
704. 15814835 c.4652T>G p.L1551R missense 0.00000824●●●●●●
705. 15814033 c.4928C>T p.A1643V missense 0.00000824●●●●●●
706. 15835379 c.2800_2803delGAGG p.Glu934LysfsTer77 frameshift 0.00000824●●●●●●
707. 15850293 c.1654A>G p.K552E missense 0.00000824●●●●●●
708. 15832538 c.3005A>G p.K1002R missense 0.00000824●●●●●●
709. 15826437 c.3635T>G p.L1212R missense 0.00000824●●●●●●
710. 15865471 c.988G>C p.V330L missense 0.00000824●●●●●●
711. 15847322 c.1793C>T p.P598L missense 0.00000824●●●●●●
712. 15865460 c.999G>A p.M333I missense 0.00000824●●●●●●
713. 15847293 c.1822A>G p.N608D missense 0.00000824●●●●●●
714. 15841451 c.2387T>C p.M796T missense 0.00000824●●●●●●
715. 15820841 c.3722G>A p.R1241Q missense 0.00000824●●●●●●
716. 15815385 c.4472C>A p.A1491D missense 0.00000824●●●●●●
717. 15834052 c.2860-7A>G splice site 0.00000824●●●●●●
718. 15831342 c.3257C>T p.A1086V missense 0.00000824●●●●●●
719. 15820808 c.3755A>G p.H1252R missense 0.00000824●●●●●●
720. 15814734 c.4753G>A p.E1585K missense 0.00000824●●●●●●
721. 15797934 c.5833C>A p.R1945S missense 0.00000824●●●●●●
722. 15854467 c.1178C>T p.T393I missense 0.00000824●●●●●●
723. 15835670 c.2599C>T p.R867W missense 0.00000824●●●●●●
724. 15829380 c.3349G>C p.E1117Q missense 0.00000824●●●●●●
725. 15818098 c.4285C>G p.L1429V missense 0.00000824●●●●●●
726. 15815273 c.4578+6T>A splice site 0.00000824●●●●●●
727. 15857683 c.1099A>G p.T367A missense 0.00000824●●●●●●
728. 15814055 c.4906G>A p.A1636T missense 0.00000824●●●●●●
729. 15832541 c.3002G>A p.R1001Q missense 0.00000824●●●●●●
730. 15815485 c.4372G>A p.A1458T missense 0.00000824●●●●●●
731. 15813539 c.4985A>C p.E1662A missense 0.00000824●●●●●●
732. 15832513 c.3030C>G p.D1010E missense 0.00000824●●●●●●
733. 15815314 c.4543G>A p.D1515N missense 0.00000824●●●●●●
734. 15865427 c.1032A>T splice site 0.00000824●●●●●●
735. 15917199 c.415G>A p.V139I missense 0.00000824●●●●●●
736. 15854438 c.1207G>A p.V403I missense 0.00000824●●●●●●
737. 15813480 c.5044G>C p.A1682P missense 0.00000824●●●●●●
738. 15811024 c.5477T>G p.L1826R missense 0.00000824●●●●●●
739. 15797885 c.5882G>A p.R1961Q missense 0.00000824●●●●●●
740. 15917180 c.434A>G p.K145R missense 0.00000824●●●●●●
741. 15835406 c.2773C>A p.H925N missense 0.00000824●●●●●●
742. 15829304 c.3425G>A p.R1142Q missense 0.00000824●●●●●●
743. 15797987 c.5787-7C>T splice site 0.00000824●●●●●●
744. 15876273 c.695A>G p.K232R missense 0.00000824●●●●●●
745. 15814857 c.4630A>T p.M1544L missense 0.00000824●●●●●●
746. 15872674 c.753C>A p.D251E missense 0.00000824●●●●●●
747. 15851746 c.1513G>C p.E505Q missense 0.00000824●●●●●●
748. 15833953 c.2952G>C p.E984D missense 0.00000824●●●●●●
749. 15833944 c.2961C>G p.I987M missense 0.00000824●●●●●●
750. 15826502 c.3570T>G p.H1190Q missense 0.00000824●●●●●●
751. 15818566 c.4054C>G p.L1352V missense 0.00000824●●●●●●
752. 15865512 c.947C>G p.P316R missense 0.00000824●●●●●●
753. 15841536 c.2302A>G p.I768V missense 0.00000824●●●●●●
754. 15832447 c.3096T>G p.H1032Q missense 0.00000824●●●●●●
755. 15820853 c.3710C>T p.A1237V missense 0.00000824●●●●●●
756. 15814811 c.4676A>C p.E1559A missense 0.00000824●●●●●●
757. 15814695 c.4791+1G>A essential splice site 0.00000824●●●●●●
758. 15869947 c.877G>A p.E293K missense 0.00000824●●●●●●
759. 15814758 c.4729G>A p.E1577K missense 0.00000824●●●●●●
760. 15839036 c.2470G>A p.A824T missense 0.00000824●●●●●●
761. 15820775 c.3788A>G p.E1263G missense 0.00000824●●●●●●
762. 15932016 c.94G>C p.A32P missense 0.00000824●●●●●●
763. 15857734 c.1048G>A p.V350I missense 0.00000824●●●●●●
764. 15841430 c.2408G>A p.R803K missense 0.00000824●●●●●●
765. 15797968 c.5799G>C p.E1933D missense 0.00000824●●●●●●
766. 15931869 c.241C>T p.P81S missense 0.00000824●●●●●●
767. 15818043 c.4340A>C p.E1447A missense 0.00000824●●●●●●
768. 15797928 c.5839G>C p.V1947L missense 0.00000824●●●●●●
769. 15917256 c.358C>G p.L120V missense 0.00000824●●●●●●
770. 15854446 c.1199G>A p.R400H missense 0.00000824●●●●●●
771. 15835617 c.2652G>T p.Q884H missense 0.00000824●●●●●●
772. 15811048 c.5453C>T p.A1818V missense 0.00000824●●●●●●
773. 15932009 c.101G>C p.R34T missense 0.00000824●●●●●●
774. 15797910 c.5857G>A p.G1953S missense 0.00000824●●●●●●
775. 15835469 c.2710G>A p.A904T missense 0.00000824●●●●●●
776. 15829338 c.3391C>G p.R1131G missense 0.00000824●●●●●●
777. 15917162 c.452C>T p.P151L missense 0.00000824●●●●●●
778. 15834044 c.2861A>T p.D954V missense 0.00000824●●●●●●
779. 15829241 c.3488C>T p.A1163V missense 0.00000824●●●●●●
780. 15818620 c.4000G>A p.V1334M missense 0.00000824●●●●●●
781. 15815394 c.4463T>G p.L1488R missense 0.00000824●●●●●●
782. 15813472 c.5052C>G p.S1684R 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.