MYH7 variants in ExAC

MYH7 gene summary
MYH7 variants in HCM, DCM

The table below lists the MYH7 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. 23900794 c.732C>T p.F244F splice site 0.18364523●●●●●●
2. 23886409 c.4472C>G p.S1491C missense 0.00746219●●●●●●
3. 23899120 c.1002C>T p.N334N splice site 0.00426209●●●●●●
4. 23889446 c.3337-3dupC splice site 0.00230069●●●●●●
5. 23888685 c.3853+7C>T splice site 0.00228991●●●●●●
6. 23892910 c.2945T>C p.M982T missense 0.00090601●●●●●●
7. 23895169 c.2162+4G>A splice site 0.00080736●●●●●●
8. 23886702 c.4353+10G>A splice site 0.00079975●●●●●●
9. 23902865 c.77C>T p.A26V missense 0.00056870●●●●●●
10. 23893148 c.2890G>C p.V964L missense 0.00042006●●●●●●
11. 23886504 c.4377G>T p.K1459N missense 0.00030546●●●●●●
12. 23888775 c.3770A>G p.N1257S missense 0.00030477●●●●●●
13. 23894554 c.2360G>A p.R787H missense 0.00022244●●●●●●
14. 23886482 c.4399C>G p.L1467V missense 0.00015668●●●●●●
15. 23890217 c.3286G>T p.D1096Y missense 0.00015659●●●●●●
16. 23887578 c.4010G>A p.R1337Q missense 0.00015064●●●●●●
17. 23886709 c.4353+3G>T splice site 0.00014838●●●●●●
18. 23898160 c.1407+4A>C splice site 0.00013189●●●●●●
19. 23898249 c.1322C>T p.T441M missense 0.00013179●●●●●●
20. 23886722 c.4343A>T p.N1448I missense 0.00011537●●●●●●
21. 23891518 c.3116A>G p.E1039G missense 0.00011534●●●●●●
22. 23898310 c.1261A>G p.I421V missense 0.00010707●●●●●●
23. 23887607 c.3981C>A p.N1327K missense 0.00010347●●●●●●
24. 23889048 c.3726+6C>T splice site 0.00009885●●●●●●
25. 23900620 c.796+7G>A splice site 0.00009884●●●●●●
26. 23886204 c.4520-3C>T splice site 0.00009061●●●●●●
27. 23885449 c.4717G>A p.E1573K missense 0.00008241●●●●●●
28. 23886458 c.4423C>T p.R1475C missense 0.00008239●●●●●●
29. 23884924 c.5071G>A p.V1691M missense 0.00008238●●●●●●
30. 23888742 c.3803G>A p.R1268H missense 0.00008237●●●●●●
31. 23899800 c.968T>C p.I323T missense 0.00007549●●●●●●
32. 23902914 c.28G>C p.G10R missense 0.00007434●●●●●●
33. 23899129 c.1000-7C>T splice site 0.00007425●●●●●●
34. 23891476 c.3158G>A p.R1053Q missense 0.00007414●●●●●●
35. 23883054 c.5704G>C p.E1902Q missense 0.00007413●●●●●●
36. 23900693 c.733-3C>T splice site 0.00007413●●●●●●
37. 23899792 c.976G>C p.A326P missense 0.00006783●●●●●●
38. 23883309 c.5562G>A p.T1854T splice site 0.00006604●●●●●●
39. 23890202 c.3301G>A p.G1101S missense 0.00006593●●●●●●
40. 23896795 c.1887G>A p.A629A splice site 0.00005909●●●●●●
41. 23884196 c.5559+8G>A splice site 0.00005798●●●●●●
42. 23887510 c.4078G>A p.V1360I missense 0.00005773●●●●●●
43. 23885010 c.4985G>A p.R1662H missense 0.00005769●●●●●●
44. 23902293 c.345C>T p.Y115Y splice site 0.00005769●●●●●●
45. 23902827 c.115G>A p.V39M missense 0.00005768●●●●●●
46. 23894555 c.2359C>T p.R787C missense 0.00005767●●●●●●
47. 23885257 c.4909G>A p.A1637T missense 0.00005766●●●●●●
48. 23888693 c.3852T>C p.N1284N splice site 0.00005766●●●●●●
49. 23888682 c.3853+10G>C splice site 0.00005766●●●●●●
50. 23901679 c.530+9A>T splice site 0.00005765●●●●●●
51. 23901842 c.502+6A>G splice site 0.00005765●●●●●●
52. 23894232 c.2425G>T p.D809Y missense 0.00004950●●●●●●
53. 23884256 c.5507C>T p.S1836L missense 0.00004949●●●●●●
54. 23884263 c.5500G>A p.A1834T missense 0.00004947●●●●●●
55. 23884269 c.5494C>T p.R1832C missense 0.00004946●●●●●●
56. 23891399 c.3235C>T p.R1079W missense 0.00004944●●●●●●
57. 23884965 c.5030G>A p.R1677H missense 0.00004943●●●●●●
58. 23885349 c.4817G>A p.R1606H missense 0.00004942●●●●●●
59. 23884630 c.5243G>A p.C1748Y missense 0.00004942●●●●●●
60. 23901923 c.427C>T p.R143W missense 0.00004942●●●●●●
61. 23886771 c.4294G>A p.V1432I missense 0.00004942●●●●●●
62. 23887606 c.3982G>A p.A1328T missense 0.00004312●●●●●●
63. 23886903 c.4170-8C>A splice site 0.00004203●●●●●●
64. 23902000 c.350A>T p.Y117F missense 0.00004127●●●●●●
65. 23887498 c.4090G>A p.A1364T missense 0.00004122●●●●●●
66. 23902427 c.211G>A p.V71M missense 0.00004119●●●●●●
67. 23885379 c.4787C>T p.S1596L missense 0.00004118●●●●●●
68. 23883107 c.5656-5C>T splice site 0.00004118●●●●●●
69. 23888715 c.3830G>A p.R1277Q missense 0.00004118●●●●●●
70. 23884434 c.5329G>A p.A1777T missense 0.00004118●●●●●●
71. 23885272 c.4894G>A p.A1632T missense 0.00004118●●●●●●
72. 23897001 c.1681G>A p.A561T missense 0.00004118●●●●●●
73. 23884476 c.5287G>A p.A1763T missense 0.00004118●●●●●●
74. 23892820 c.3035C>A p.A1012D missense 0.00004118●●●●●●
75. 23883106 c.5656-4G>A splice site 0.00004118●●●●●●
76. 23887624 c.3973-9_3973-8dupCC splice site 0.00003535●●●●●●
77. 23896786 c.1888+8G>T splice site 0.00003435●●●●●●
78. 23887584 c.4004C>T p.S1335L missense 0.00003364●●●●●●
79. 23895275 c.2060C>A p.P687H missense 0.00003343●●●●●●
80. 23884193 c.5559+11C>T splice site 0.00003314●●●●●●
81. 23884197 c.5559+7C>T splice site 0.00003312●●●●●●
82. 23884199 c.5559+5G>A splice site 0.00003312●●●●●●
83. 23887536 c.4052C>T p.T1351M missense 0.00003304●●●●●●
84. 23883310 c.5561C>T p.T1854M missense 0.00003302●●●●●●
85. 23896826 c.1856C>T p.T619I missense 0.00003302●●●●●●
86. 23887512 c.4076G>A p.R1359H missense 0.00003299●●●●●●
87. 23893971 c.2679+7C>T splice site 0.00003298●●●●●●
88. 23886704 c.4353+8C>A splice site 0.00003298●●●●●●
89. 23886707 c.4353+5G>A splice site 0.00003298●●●●●●
90. 23884268 c.5495G>A p.R1832H missense 0.00003297●●●●●●
91. 23898164 c.1407T>C p.D469D splice site 0.00003297●●●●●●
92. 23882979 c.5779A>T p.I1927F missense 0.00003297●●●●●●
93. 23894525 c.2389G>A p.A797T missense 0.00003296●●●●●●
94. 23891500 c.3134G>A p.R1045H missense 0.00003295●●●●●●
95. 23885217 c.4949T>C p.L1650S missense 0.00003295●●●●●●
96. 23884341 c.5422G>A p.G1808S missense 0.00003295●●●●●●
97. 23894051 c.2606G>A p.R869H missense 0.00003295●●●●●●
98. 23893116 c.2922G>A p.K974K splice site 0.00003295●●●●●●
99. 23884981 c.5014G>A p.A1672T missense 0.00003295●●●●●●
100. 23888744 c.3801G>C p.Q1267H missense 0.00003295●●●●●●
101. 23886782 c.4283T>C p.L1428S missense 0.00003295●●●●●●
102. 23885247 c.4919A>T p.Q1640L missense 0.00003295●●●●●●
103. 23888766 c.3779G>A p.R1260Q missense 0.00003295●●●●●●
104. 23894072 c.2585C>T p.A862V missense 0.00003295●●●●●●
105. 23884670 c.5203T>A p.S1735T missense 0.00003295●●●●●●
106. 23883033 c.5725C>T p.R1909W missense 0.00003295●●●●●●
107. 23884437 c.5326A>G p.S1776G missense 0.00003295●●●●●●
108. 23887614 c.3974C>T p.A1325V missense 0.00002618●●●●●●
109. 23899843 c.925G>A p.D309N missense 0.00002486●●●●●●
110. 23884200 c.5559+4C>T splice site 0.00002484●●●●●●
111. 23886537 c.4354-10C>T splice site 0.00002483●●●●●●
112. 23886534 c.4354-7C>T splice site 0.00002482●●●●●●
113. 23902925 c.17T>C p.M6T missense 0.00002482●●●●●●
114. 23886533 c.4354-6G>A splice site 0.00002482●●●●●●
115. 23882071 c.5800G>A p.E1934K missense 0.00002480●●●●●●
116. 23883317 c.5560-6C>T splice site 0.00002479●●●●●●
117. 23882961 c.5790+7C>A splice site 0.00002477●●●●●●
118. 23885041 c.4954G>T p.D1652Y missense 0.00002475●●●●●●
119. 23882972 c.5786C>T p.T1929M missense 0.00002474●●●●●●
120. 23902875 c.67C>T p.R23W missense 0.00002473●●●●●●
121. 23902292 c.345+1G>A essential splice site 0.00002473●●●●●●
122. 23887491 c.4097C>T p.S1366L missense 0.00002473●●●●●●
123. 23884278 c.5485G>A p.E1829K missense 0.00002472●●●●●●
124. 23902310 c.328G>A p.G110S missense 0.00002472●●●●●●
125. 23885003 c.4992C>A p.N1664K missense 0.00002472●●●●●●
126. 23885445 c.4721G>A p.R1574Q missense 0.00002472●●●●●●
127. 23884305 c.5458C>G p.R1820G missense 0.00002472●●●●●●
128. 23884305 c.5458C>T p.R1820W missense 0.00002472●●●●●●
129. 23891496 c.3138G>A p.M1046I missense 0.00002471●●●●●●
130. 23885262 c.4904T>C p.M1635T missense 0.00002471●●●●●●
131. 23885343 c.4823G>A p.R1608H missense 0.00002471●●●●●●
132. 23886446 c.4435A>G p.T1479A missense 0.00002471●●●●●●
133. 23886394 c.4487A>C p.E1496A missense 0.00002471●●●●●●
134. 23884907 c.5088G>C p.E1696D missense 0.00002471●●●●●●
135. 23888731 c.3814G>A p.D1272N missense 0.00002471●●●●●●
136. 23898993 c.1129G>A p.G377S missense 0.00002471●●●●●●
137. 23888768 c.3777C>A p.H1259Q missense 0.00002471●●●●●●
138. 23884644 c.5229G>T p.E1743D missense 0.00002471●●●●●●
139. 23884975 c.5020G>A p.V1674M missense 0.00002471●●●●●●
140. 23900999 c.610C>T p.R204C missense 0.00002471●●●●●●
141. 23895023 c.2167C>T p.R723C missense 0.00002471●●●●●●
142. 23901682 c.530+6T>C splice site 0.00002471●●●●●●
143. 23886382 c.4499G>A p.R1500Q missense 0.00002471●●●●●●
144. 23901869 c.481G>A p.A161T missense 0.00002471●●●●●●
145. 23900977 c.632C>T p.P211L missense 0.00002471●●●●●●
146. 23899077 c.1045A>G p.M349V missense 0.00002471●●●●●●
147. 23884905 c.5090G>A p.R1697Q missense 0.00002471●●●●●●
148. 23884930 c.5065C>T p.R1689C missense 0.00002471●●●●●●
149. 23887611 c.3977A>G p.K1326R missense 0.00001734●●●●●●
150. 23887594 c.3994G>A p.A1332T missense 0.00001699●●●●●●
151. 23896794 c.1888C>T p.P630S missense 0.00001691●●●●●●
152. 23885506 c.4660G>C p.E1554Q missense 0.00001669●●●●●●
153. 23899880 c.896-8delT splice site 0.00001669●●●●●●
154. 23899877 c.896-5C>T splice site 0.00001666●●●●●●
155. 23899875 c.896-3T>C splice site 0.00001665●●●●●●
156. 23887558 c.4030C>T p.R1344W missense 0.00001659●●●●●●
157. 23895255 c.2080C>T p.R694C missense 0.00001659●●●●●●
158. 23902931 c.11C>T p.S4L missense 0.00001656●●●●●●
159. 23882085 c.5791-5A>T splice site 0.00001654●●●●●●
160. 23885479 c.4687C>G p.L1563V missense 0.00001654●●●●●●
161. 23896513 c.1892T>C p.I631T missense 0.00001654●●●●●●
162. 23884227 c.5536C>T p.R1846C missense 0.00001653●●●●●●
163. 23883318 c.5560-7C>T splice site 0.00001653●●●●●●
164. 23882958 c.5790+10T>C splice site 0.00001652●●●●●●
165. 23894241 c.2424-8C>A splice site 0.00001651●●●●●●
166. 23884256 c.5507C>G p.S1836W missense 0.00001650●●●●●●
167. 23895982 c.2044+4A>G splice site 0.00001650●●●●●●
168. 23891386 c.3245+3A>T splice site 0.00001649●●●●●●
169. 23902781 c.161G>A p.R54Q missense 0.00001649●●●●●●
170. 23890229 c.3274G>A p.A1092T missense 0.00001649●●●●●●
171. 23885457 c.4709C>A p.A1570E missense 0.00001649●●●●●●
172. 23890235 c.3268C>G p.L1090V missense 0.00001649●●●●●●
173. 23884263 c.5500G>T p.A1834S missense 0.00001649●●●●●●
174. 23891500 c.3134G>T p.R1045L missense 0.00001648●●●●●●
175. 23884311 c.5452C>T p.R1818W missense 0.00001648●●●●●●
176. 23896042 c.1988G>A p.R663H missense 0.00001648●●●●●●
177. 23884930 c.5065C>G p.R1689G missense 0.00001648●●●●●●
178. 23886855 c.4210G>A p.V1404M missense 0.00001648●●●●●●
179. 23894557 c.2357C>T p.T786M missense 0.00001648●●●●●●
180. 23884982 c.5013C>G p.I1671M missense 0.00001648●●●●●●
181. 23894058 c.2599G>A p.E867K missense 0.00001648●●●●●●
182. 23901078 c.531C>T p.T177T splice site 0.00001648●●●●●●
183. 23894566 c.2348G>A p.R783H missense 0.00001648●●●●●●
184. 23886764 c.4301G>A p.R1434H missense 0.00001648●●●●●●
185. 23894021 c.2636C>A p.S879Y missense 0.00001648●●●●●●
186. 23886827 c.4238C>T p.S1413L missense 0.00001648●●●●●●
187. 23900111 c.894G>A p.L298L splice site 0.00001648●●●●●●
188. 23884929 c.5066G>A p.R1689H missense 0.00001648●●●●●●
189. 23891501 c.3133C>T p.R1045C missense 0.00001648●●●●●●
190. 23891434 c.3200T>C p.M1067T missense 0.00001648●●●●●●
191. 23884966 c.5029C>T p.R1677C missense 0.00001648●●●●●●
192. 23886846 c.4219G>A p.V1407I missense 0.00001648●●●●●●
193. 23886150 c.4571A>C p.H1524P missense 0.00001648●●●●●●
194. 23893251 c.2787G>C p.E929D missense 0.00001647●●●●●●
195. 23897052 c.1630A>G p.T544A missense 0.00001647●●●●●●
196. 23888691 c.3853+1G>A essential splice site 0.00001647●●●●●●
197. 23885263 c.4903A>G p.M1635V missense 0.00001647●●●●●●
198. 23901908 c.442A>G p.S148G missense 0.00001647●●●●●●
199. 23886400 c.4481A>T p.H1494L missense 0.00001647●●●●●●
200. 23894897 c.2286+7A>G splice site 0.00001647●●●●●●
201. 23900868 c.658A>G p.I220V missense 0.00001647●●●●●●
202. 23893262 c.2776C>G p.L926V missense 0.00001647●●●●●●
203. 23888716 c.3829C>T p.R1277W missense 0.00001647●●●●●●
204. 23892797 c.3058C>A p.L1020M missense 0.00001647●●●●●●
205. 23898256 c.1315A>T p.M439L missense 0.00001647●●●●●●
206. 23902385 c.253G>C p.D85H missense 0.00001647●●●●●●
207. 23901020 c.589G>A p.V197I missense 0.00001647●●●●●●
208. 23884594 c.5279C>T p.T1760M missense 0.00001647●●●●●●
209. 23898449 c.1246A>C p.N416H missense 0.00001647●●●●●●
210. 23884672 c.5201T>G p.L1734R missense 0.00001647●●●●●●
211. 23897071 c.1611G>C p.E537D missense 0.00001647●●●●●●
212. 23884477 c.5286C>T splice site 0.00001647●●●●●●
213. 23892761 c.3094G>A p.D1032N missense 0.00001647●●●●●●
214. 23901688 c.530C>T p.T177I missense 0.00001647●●●●●●
215. 23886196 c.4525A>C p.I1509L missense 0.00001647●●●●●●
216. 23883054 c.5704G>A p.E1902K missense 0.00001647●●●●●●
217. 23896982 c.1700G>A p.R567H missense 0.00001647●●●●●●
218. 23896973 c.1709A>G p.K570R missense 0.00001647●●●●●●
219. 23892818 c.3037G>A p.E1013K missense 0.00001647●●●●●●
220. 23891482 c.3152C>T p.A1051V missense 0.00001647●●●●●●
221. 23893273 c.2765T>C p.M922T missense 0.00001647●●●●●●
222. 23886422 c.4459G>A p.A1487T missense 0.00001647●●●●●●
223. 23902340 c.298G>A p.A100T missense 0.00001647●●●●●●
224. 23884642 c.5231C>T p.A1744V missense 0.00001647●●●●●●
225. 23888509 c.3854-5C>T splice site 0.00001647●●●●●●
226. 23898237 c.1334C>T p.A445V missense 0.00001647●●●●●●
227. 23893234 c.2804A>T p.E935V missense 0.00001647●●●●●●
228. 23902370 c.268A>G p.M90V missense 0.00001647●●●●●●
229. 23888502 c.3856G>A p.E1286K missense 0.00001647●●●●●●
230. 23898246 c.1325G>A p.R442H missense 0.00001647●●●●●●
231. 23886176 c.4545G>C p.Q1515H missense 0.00001647●●●●●●
232. 23893216 c.2822G>A p.R941H missense 0.00001647●●●●●●
233. 23883069 c.5689C>T p.R1897C missense 0.00001647●●●●●●
234. 23884583 c.5283+7C>T splice site 0.00001647●●●●●●
235. 23901008 c.601A>T p.I201F missense 0.00001647●●●●●●
236. 23892881 c.2974C>A p.L992M missense 0.00001647●●●●●●
237. 23889287 c.3493A>G p.K1165E missense 0.00001267●●●●●●
238. 23889404 c.3376C>T p.R1126C missense 0.00001022●●●●●●
239. 23889430 c.3350A>T p.E1117V missense 0.00000976●●●●●●
240. 23889431 c.3349G>T p.E1117X nonsense 0.00000974●●●●●●
241. 23887614 c.3974C>G p.A1325G missense 0.00000873●●●●●●
242. 23895295 c.2045-5C>T splice site 0.00000851●●●●●●
243. 23896793 c.1888+1G>A essential splice site 0.00000848●●●●●●
244. 23885529 c.4645-8delC splice site 0.00000845●●●●●●
245. 23896795 c.1887G>T splice site 0.00000844●●●●●●
246. 23887585 c.4003T>G p.S1335A missense 0.00000842●●●●●●
247. 23885519 c.4647C>T splice site 0.00000841●●●●●●
248. 23895283 c.2052G>A p.M684I missense 0.00000840●●●●●●
249. 23899800 c.968T>G p.I323S missense 0.00000839●●●●●●
250. 23887579 c.4009C>T p.R1337W missense 0.00000838●●●●●●
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503. 23885345 c.4821C>A p.S1607R missense 0.00000824●●●●●●
504. 23884344 c.5419G>A p.G1807S missense 0.00000824●●●●●●
505. 23883269 c.5602G>C p.V1868L missense 0.00000824●●●●●●
506. 23902866 c.76G>A p.A26T missense 0.00000824●●●●●●
507. 23898465 c.1230C>A p.Y410X nonsense 0.00000824●●●●●●
508. 23888815 c.3730A>C p.N1244H missense 0.00000824●●●●●●
509. 23900696 c.733-6C>T splice site 0.00000824●●●●●●
510. 23902430 c.208A>T p.T70S missense 0.00000824●●●●●●
511. 23897020 c.1662C>A p.D554E missense 0.00000824●●●●●●
512. 23896980 c.1702A>G p.N568D missense 0.00000824●●●●●●
513. 23901068 c.541G>A p.G181R missense 0.00000824●●●●●●
514. 23891497 c.3137T>G p.M1046R missense 0.00000824●●●●●●
515. 23886773 c.4292A>G p.D1431G missense 0.00000824●●●●●●
516. 23898464 c.1231G>A p.V411I missense 0.00000824●●●●●●
517. 23884956 c.5039T>C p.L1680P missense 0.00000824●●●●●●
518. 23882984 c.5774G>A p.R1925H missense 0.00000824●●●●●●
519. 23901905 c.445G>A p.E149K missense 0.00000824●●●●●●
520. 23884865 c.5130T>G p.S1710R missense 0.00000824●●●●●●
521. 23894488 c.2423+3G>A splice site 0.00000824●●●●●●
522. 23902888 c.54delG p.Lys18AsnfsTer7 frameshift 0.00000824●●●●●●
523. 23900672 c.751C>T p.H251Y missense 0.00000824●●●●●●
524. 23884304 c.5459G>A p.R1820Q missense 0.00000824●●●●●●
525. 23900691 c.733-1G>A essential splice site 0.00000824●●●●●●
526. 23884460 c.5303A>T p.E1768V missense 0.00000824●●●●●●
527. 23892883 c.2972A>G p.K991R missense 0.00000824●●●●●●
528. 23892756 c.3099T>C splice site 0.00000824●●●●●●
529. 23888411 c.3947_3948insA p.Arg1317GlufsTer8 frameshift 0.00000824●●●●●●
530. 23890185 c.3318G>T p.K1106N missense 0.00000824●●●●●●
531. 23900820 c.706G>A p.V236I missense 0.00000824●●●●●●
532. 23888757 c.3788C>A p.A1263E missense 0.00000824●●●●●●
533. 23893349 c.2689A>C p.N897H missense 0.00000824●●●●●●
534. 23888475 c.3883G>A p.E1295K missense 0.00000824●●●●●●
535. 23891398 c.3236G>A p.R1079Q missense 0.00000824●●●●●●
536. 23902781 c.161G>T p.R54L missense 0.00000824●●●●●●
537. 23897094 c.1588A>G p.I530V missense 0.00000824●●●●●●
538. 23894063 c.2594A>G p.K865R missense 0.00000824●●●●●●
539. 23892887 c.2968G>A p.A990T missense 0.00000824●●●●●●
540. 23885335 c.4831G>T p.A1611S missense 0.00000824●●●●●●
541. 23884296 c.5467G>C p.E1823Q missense 0.00000824●●●●●●
542. 23902804 c.138T>A p.F46L missense 0.00000824●●●●●●
543. 23892787 c.3068C>T p.A1023V missense 0.00000824●●●●●●
544. 23885002 c.4993G>A p.D1665N missense 0.00000824●●●●●●
545. 23900105 c.895+5G>A splice site 0.00000824●●●●●●
546. 23884838 c.5157G>A splice site 0.00000824●●●●●●
547. 23896910 c.1772T>C p.I591T missense 0.00000824●●●●●●
548. 23902303 c.335G>A p.W112X nonsense 0.00000824●●●●●●
549. 23896952 c.1730T>C p.F577S missense 0.00000824●●●●●●
550. 23892809 c.3046A>G p.K1016E missense 0.00000824●●●●●●
551. 23902287 c.345+6T>G splice site 0.00000824●●●●●●
552. 23895167 c.2162+6T>C splice site 0.00000824●●●●●●
553. 23891405 c.3229G>T p.D1077Y missense 0.00000824●●●●●●
554. 23884616 c.5257G>A p.E1753K missense 0.00000824●●●●●●
555. 23886440 c.4441C>T p.L1481F missense 0.00000824●●●●●●
556. 23893110 c.2922+6G>C splice site 0.00000824●●●●●●
557. 23895028 c.2163-1G>T essential splice site 0.00000824●●●●●●
558. 23894514 c.2400G>T p.E800D missense 0.00000824●●●●●●
559. 23886807 c.4258C>T p.R1420W missense 0.00000824●●●●●●
560. 23902767 c.175G>A p.V59I missense 0.00000824●●●●●●
561. 23894084 c.2573G>T p.R858L missense 0.00000824●●●●●●
562. 23884643 c.5230G>T p.A1744S missense 0.00000824●●●●●●
563. 23884639 c.5234T>C p.V1745A 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.