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. 23901923 c.427C>T p.R143W missense 0.00004942●●●●●●
59. 23886771 c.4294G>A p.V1432I missense 0.00004942●●●●●●
60. 23884630 c.5243G>A p.C1748Y missense 0.00004942●●●●●●
61. 23885349 c.4817G>A p.R1606H 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. 23897001 c.1681G>A p.A561T missense 0.00004118●●●●●●
68. 23884434 c.5329G>A p.A1777T missense 0.00004118●●●●●●
69. 23883107 c.5656-5C>T splice site 0.00004118●●●●●●
70. 23888715 c.3830G>A p.R1277Q missense 0.00004118●●●●●●
71. 23884476 c.5287G>A p.A1763T missense 0.00004118●●●●●●
72. 23885272 c.4894G>A p.A1632T missense 0.00004118●●●●●●
73. 23885379 c.4787C>T p.S1596L 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. 23884199 c.5559+5G>A splice site 0.00003312●●●●●●
82. 23884197 c.5559+7C>T 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. 23886704 c.4353+8C>A splice site 0.00003298●●●●●●
88. 23886707 c.4353+5G>A splice site 0.00003298●●●●●●
89. 23893971 c.2679+7C>T splice site 0.00003298●●●●●●
90. 23882979 c.5779A>T p.I1927F missense 0.00003297●●●●●●
91. 23898164 c.1407T>C p.D469D splice site 0.00003297●●●●●●
92. 23884268 c.5495G>A p.R1832H missense 0.00003297●●●●●●
93. 23894525 c.2389G>A p.A797T missense 0.00003296●●●●●●
94. 23894051 c.2606G>A p.R869H missense 0.00003295●●●●●●
95. 23891500 c.3134G>A p.R1045H missense 0.00003295●●●●●●
96. 23884437 c.5326A>G p.S1776G missense 0.00003295●●●●●●
97. 23884670 c.5203T>A p.S1735T missense 0.00003295●●●●●●
98. 23893116 c.2922G>A p.K974K splice site 0.00003295●●●●●●
99. 23894072 c.2585C>T p.A862V missense 0.00003295●●●●●●
100. 23888744 c.3801G>C p.Q1267H missense 0.00003295●●●●●●
101. 23884341 c.5422G>A p.G1808S missense 0.00003295●●●●●●
102. 23884981 c.5014G>A p.A1672T missense 0.00003295●●●●●●
103. 23883033 c.5725C>T p.R1909W missense 0.00003295●●●●●●
104. 23885217 c.4949T>C p.L1650S missense 0.00003295●●●●●●
105. 23885247 c.4919A>T p.Q1640L missense 0.00003295●●●●●●
106. 23886782 c.4283T>C p.L1428S missense 0.00003295●●●●●●
107. 23888766 c.3779G>A p.R1260Q 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. 23886533 c.4354-6G>A splice site 0.00002482●●●●●●
113. 23902925 c.17T>C p.M6T missense 0.00002482●●●●●●
114. 23886534 c.4354-7C>T 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. 23902292 c.345+1G>A essential splice site 0.00002473●●●●●●
121. 23887491 c.4097C>T p.S1366L missense 0.00002473●●●●●●
122. 23902875 c.67C>T p.R23W missense 0.00002473●●●●●●
123. 23884278 c.5485G>A p.E1829K missense 0.00002472●●●●●●
124. 23884305 c.5458C>G p.R1820G missense 0.00002472●●●●●●
125. 23884305 c.5458C>T p.R1820W missense 0.00002472●●●●●●
126. 23885003 c.4992C>A p.N1664K missense 0.00002472●●●●●●
127. 23885445 c.4721G>A p.R1574Q missense 0.00002472●●●●●●
128. 23902310 c.328G>A p.G110S missense 0.00002472●●●●●●
129. 23900977 c.632C>T p.P211L missense 0.00002471●●●●●●
130. 23898993 c.1129G>A p.G377S missense 0.00002471●●●●●●
131. 23895023 c.2167C>T p.R723C missense 0.00002471●●●●●●
132. 23886394 c.4487A>C p.E1496A missense 0.00002471●●●●●●
133. 23884644 c.5229G>T p.E1743D missense 0.00002471●●●●●●
134. 23885262 c.4904T>C p.M1635T missense 0.00002471●●●●●●
135. 23891496 c.3138G>A p.M1046I missense 0.00002471●●●●●●
136. 23884907 c.5088G>C p.E1696D missense 0.00002471●●●●●●
137. 23901869 c.481G>A p.A161T missense 0.00002471●●●●●●
138. 23884905 c.5090G>A p.R1697Q missense 0.00002471●●●●●●
139. 23884930 c.5065C>T p.R1689C missense 0.00002471●●●●●●
140. 23884975 c.5020G>A p.V1674M missense 0.00002471●●●●●●
141. 23885343 c.4823G>A p.R1608H missense 0.00002471●●●●●●
142. 23886382 c.4499G>A p.R1500Q missense 0.00002471●●●●●●
143. 23886446 c.4435A>G p.T1479A missense 0.00002471●●●●●●
144. 23888731 c.3814G>A p.D1272N missense 0.00002471●●●●●●
145. 23888768 c.3777C>A p.H1259Q missense 0.00002471●●●●●●
146. 23899077 c.1045A>G p.M349V missense 0.00002471●●●●●●
147. 23900999 c.610C>T p.R204C missense 0.00002471●●●●●●
148. 23901682 c.530+6T>C splice site 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. 23895255 c.2080C>T p.R694C missense 0.00001659●●●●●●
157. 23887558 c.4030C>T p.R1344W missense 0.00001659●●●●●●
158. 23902931 c.11C>T p.S4L missense 0.00001656●●●●●●
159. 23885479 c.4687C>G p.L1563V missense 0.00001654●●●●●●
160. 23896513 c.1892T>C p.I631T missense 0.00001654●●●●●●
161. 23882085 c.5791-5A>T splice site 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. 23890235 c.3268C>G p.L1090V missense 0.00001649●●●●●●
169. 23884263 c.5500G>T p.A1834S missense 0.00001649●●●●●●
170. 23885457 c.4709C>A p.A1570E missense 0.00001649●●●●●●
171. 23890229 c.3274G>A p.A1092T missense 0.00001649●●●●●●
172. 23902781 c.161G>A p.R54Q missense 0.00001649●●●●●●
173. 23891386 c.3245+3A>T splice site 0.00001649●●●●●●
174. 23896042 c.1988G>A p.R663H missense 0.00001648●●●●●●
175. 23894566 c.2348G>A p.R783H missense 0.00001648●●●●●●
176. 23891501 c.3133C>T p.R1045C missense 0.00001648●●●●●●
177. 23894021 c.2636C>A p.S879Y missense 0.00001648●●●●●●
178. 23900111 c.894G>A p.L298L splice site 0.00001648●●●●●●
179. 23901078 c.531C>T p.T177T splice site 0.00001648●●●●●●
180. 23884966 c.5029C>T p.R1677C missense 0.00001648●●●●●●
181. 23886855 c.4210G>A p.V1404M missense 0.00001648●●●●●●
182. 23891434 c.3200T>C p.M1067T missense 0.00001648●●●●●●
183. 23894058 c.2599G>A p.E867K missense 0.00001648●●●●●●
184. 23884311 c.5452C>T p.R1818W missense 0.00001648●●●●●●
185. 23884929 c.5066G>A p.R1689H missense 0.00001648●●●●●●
186. 23884930 c.5065C>G p.R1689G missense 0.00001648●●●●●●
187. 23884982 c.5013C>G p.I1671M missense 0.00001648●●●●●●
188. 23886150 c.4571A>C p.H1524P missense 0.00001648●●●●●●
189. 23886764 c.4301G>A p.R1434H missense 0.00001648●●●●●●
190. 23886827 c.4238C>T p.S1413L missense 0.00001648●●●●●●
191. 23886846 c.4219G>A p.V1407I missense 0.00001648●●●●●●
192. 23891500 c.3134G>T p.R1045L missense 0.00001648●●●●●●
193. 23894557 c.2357C>T p.T786M missense 0.00001648●●●●●●
194. 23901688 c.530C>T p.T177I missense 0.00001647●●●●●●
195. 23898246 c.1325G>A p.R442H missense 0.00001647●●●●●●
196. 23884594 c.5279C>T p.T1760M missense 0.00001647●●●●●●
197. 23892881 c.2974C>A p.L992M missense 0.00001647●●●●●●
198. 23891482 c.3152C>T p.A1051V missense 0.00001647●●●●●●
199. 23888502 c.3856G>A p.E1286K missense 0.00001647●●●●●●
200. 23888691 c.3853+1G>A essential splice site 0.00001647●●●●●●
201. 23883054 c.5704G>A p.E1902K missense 0.00001647●●●●●●
202. 23902340 c.298G>A p.A100T missense 0.00001647●●●●●●
203. 23896982 c.1700G>A p.R567H missense 0.00001647●●●●●●
204. 23898256 c.1315A>T p.M439L missense 0.00001647●●●●●●
205. 23893262 c.2776C>G p.L926V missense 0.00001647●●●●●●
206. 23898449 c.1246A>C p.N416H missense 0.00001647●●●●●●
207. 23883069 c.5689C>T p.R1897C missense 0.00001647●●●●●●
208. 23884642 c.5231C>T p.A1744V missense 0.00001647●●●●●●
209. 23884672 c.5201T>G p.L1734R missense 0.00001647●●●●●●
210. 23885263 c.4903A>G p.M1635V missense 0.00001647●●●●●●
211. 23886176 c.4545G>C p.Q1515H missense 0.00001647●●●●●●
212. 23886196 c.4525A>C p.I1509L missense 0.00001647●●●●●●
213. 23886400 c.4481A>T p.H1494L missense 0.00001647●●●●●●
214. 23886422 c.4459G>A p.A1487T missense 0.00001647●●●●●●
215. 23888716 c.3829C>T p.R1277W missense 0.00001647●●●●●●
216. 23892761 c.3094G>A p.D1032N missense 0.00001647●●●●●●
217. 23892797 c.3058C>A p.L1020M missense 0.00001647●●●●●●
218. 23892818 c.3037G>A p.E1013K missense 0.00001647●●●●●●
219. 23893216 c.2822G>A p.R941H missense 0.00001647●●●●●●
220. 23893234 c.2804A>T p.E935V missense 0.00001647●●●●●●
221. 23893251 c.2787G>C p.E929D missense 0.00001647●●●●●●
222. 23893273 c.2765T>C p.M922T missense 0.00001647●●●●●●
223. 23896973 c.1709A>G p.K570R missense 0.00001647●●●●●●
224. 23897052 c.1630A>G p.T544A missense 0.00001647●●●●●●
225. 23897071 c.1611G>C p.E537D missense 0.00001647●●●●●●
226. 23898237 c.1334C>T p.A445V missense 0.00001647●●●●●●
227. 23900868 c.658A>G p.I220V missense 0.00001647●●●●●●
228. 23901008 c.601A>T p.I201F missense 0.00001647●●●●●●
229. 23901020 c.589G>A p.V197I missense 0.00001647●●●●●●
230. 23901908 c.442A>G p.S148G missense 0.00001647●●●●●●
231. 23902370 c.268A>G p.M90V missense 0.00001647●●●●●●
232. 23902385 c.253G>C p.D85H missense 0.00001647●●●●●●
233. 23884477 c.5286C>T splice site 0.00001647●●●●●●
234. 23884583 c.5283+7C>T splice site 0.00001647●●●●●●
235. 23888509 c.3854-5C>T splice site 0.00001647●●●●●●
236. 23894897 c.2286+7A>G splice site 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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501. 23900886 c.640G>A p.G214S missense 0.00000824●●●●●●
502. 23901044 c.565A>C p.K189Q missense 0.00000824●●●●●●
503. 23901068 c.541G>A p.G181R missense 0.00000824●●●●●●
504. 23901850 c.500C>G p.T167R missense 0.00000824●●●●●●
505. 23901885 c.465C>A p.F155L missense 0.00000824●●●●●●
506. 23901905 c.445G>A p.E149K missense 0.00000824●●●●●●
507. 23902297 c.341T>C p.I114T missense 0.00000824●●●●●●
508. 23902298 c.340A>T p.I114F missense 0.00000824●●●●●●
509. 23902303 c.335G>A p.W112X nonsense 0.00000824●●●●●●
510. 23902340 c.298G>T p.A100S missense 0.00000824●●●●●●
511. 23902430 c.208A>T p.T70S missense 0.00000824●●●●●●
512. 23902758 c.184G>A p.E62K missense 0.00000824●●●●●●
513. 23902767 c.175G>T p.V59F missense 0.00000824●●●●●●
514. 23902776 c.166G>A p.G56S missense 0.00000824●●●●●●
515. 23902781 c.161G>T p.R54L missense 0.00000824●●●●●●
516. 23902782 c.160C>G p.R54G missense 0.00000824●●●●●●
517. 23902804 c.138T>A p.F46L missense 0.00000824●●●●●●
518. 23902818 c.124G>A p.D42N missense 0.00000824●●●●●●
519. 23902851 c.91T>C p.F31L missense 0.00000824●●●●●●
520. 23902866 c.76G>A p.A26T missense 0.00000824●●●●●●
521. 23888411 c.3947_3948insA p.Arg1317GlufsTer8 frameshift 0.00000824●●●●●●
522. 23891536 c.3100-2A>C essential splice site 0.00000824●●●●●●
523. 23893115 c.2922+1G>A essential splice site 0.00000824●●●●●●
524. 23894187 c.2470delG p.Val824SerfsTer7 frameshift 0.00000824●●●●●●
525. 23895028 c.2163-1G>T essential splice site 0.00000824●●●●●●
526. 23895172 c.2162+1G>A essential splice site 0.00000824●●●●●●
527. 23900691 c.733-1G>A essential splice site 0.00000824●●●●●●
528. 23901717 c.503-2A>T essential splice site 0.00000824●●●●●●
529. 23902379 c.259delA p.Ile87SerfsTer7 frameshift 0.00000824●●●●●●
530. 23902888 c.54delG p.Lys18AsnfsTer7 frameshift 0.00000824●●●●●●
531. 23884477 c.5286C>A splice site 0.00000824●●●●●●
532. 23884482 c.5284-3C>T splice site 0.00000824●●●●●●
533. 23884713 c.5160C>T splice site 0.00000824●●●●●●
534. 23884721 c.5158-6A>G splice site 0.00000824●●●●●●
535. 23884838 c.5157G>A splice site 0.00000824●●●●●●
536. 23886706 c.4353+6C>T splice site 0.00000824●●●●●●
537. 23886707 c.4353+5G>T splice site 0.00000824●●●●●●
538. 23886709 c.4353+3G>A splice site 0.00000824●●●●●●
539. 23888379 c.3972+7G>C splice site 0.00000824●●●●●●
540. 23888386 c.3972G>A splice site 0.00000824●●●●●●
541. 23888689 c.3853+3G>A splice site 0.00000824●●●●●●
542. 23892750 c.3099+6T>G splice site 0.00000824●●●●●●
543. 23892752 c.3099+4A>C splice site 0.00000824●●●●●●
544. 23892756 c.3099T>C splice site 0.00000824●●●●●●
545. 23892937 c.2923-5G>A splice site 0.00000824●●●●●●
546. 23892939 c.2923-7T>A splice site 0.00000824●●●●●●
547. 23892940 c.2923-8G>A splice site 0.00000824●●●●●●
548. 23893110 c.2922+6G>C splice site 0.00000824●●●●●●
549. 23893978 c.2679G>A splice site 0.00000824●●●●●●
550. 23894483 c.2423+8A>G splice site 0.00000824●●●●●●
551. 23894488 c.2423+3G>A splice site 0.00000824●●●●●●
552. 23895033 c.2163-6C>T splice site 0.00000824●●●●●●
553. 23895165 c.2162+8T>A splice site 0.00000824●●●●●●
554. 23895167 c.2162+6T>C splice site 0.00000824●●●●●●
555. 23897110 c.1579-7T>C splice site 0.00000824●●●●●●
556. 23897705 c.1578+4C>A splice site 0.00000824●●●●●●
557. 23898431 c.1257+7C>A splice site 0.00000824●●●●●●
558. 23900105 c.895+5G>A splice site 0.00000824●●●●●●
559. 23900696 c.733-6C>T splice site 0.00000824●●●●●●
560. 23900965 c.639+5G>T splice site 0.00000824●●●●●●
561. 23901083 c.531-5C>T splice site 0.00000824●●●●●●
562. 23901683 c.530+5G>A splice site 0.00000824●●●●●●
563. 23901686 c.530+2dupT splice site 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.