MYH6 variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 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. 23872666 c.800-11A>G splice site 0.75650833●●●●●●
2. 23861811 c.3302T>C p.V1101A missense 0.34609809●●●●●●
3. 23859610 c.3388G>A p.A1130T missense 0.10033088●●●●●●
4. 23876267 c.166G>A p.G56R missense 0.06979618●●●●●●
5. 23858272 c.3979-8C>T splice site 0.02308161●●●●●●
6. 23858273 c.3979-9C>G splice site 0.01540124●●●●●●
7. 23858275 c.3979-11C>G splice site 0.01217861●●●●●●
8. 23856861 c.4527G>A p.E1509E splice site 0.01137524●●●●●●
9. 23858272 c.3979-8C>G splice site 0.00834348●●●●●●
10. 23873940 c.622G>A p.D208N missense 0.00550374●●●●●●
11. 23858271 c.3979-7delT splice site 0.00359728●●●●●●
12. 23857139 c.4360-7C>T splice site 0.00345276●●●●●●
13. 23858697 c.3883G>C p.E1295Q missense 0.00324531●●●●●●
14. 23862997 c.2806G>T p.A936S missense 0.00238856●●●●●●
15. 23868065 c.1763A>C p.D588A missense 0.00213337●●●●●●
16. 23858273 c.3979-9C>A splice site 0.00193641●●●●●●
17. 23862870 c.2928+5G>A splice site 0.00176259●●●●●●
18. 23857430 c.4293G>A p.M1431I missense 0.00174621●●●●●●
19. 23858271 c.3979-7dupT splice site 0.00169151●●●●●●
20. 23863383 c.2579G>A p.R860H missense 0.00166387●●●●●●
21. 23855349 c.4960-9G>A splice site 0.00164520●●●●●●
22. 23876347 c.86G>A p.R29Q missense 0.00149923●●●●●●
23. 23862646 c.3010G>T p.A1004S missense 0.00098013●●●●●●
24. 23871682 c.1132G>A p.G378S missense 0.00088192●●●●●●
25. 23866269 c.2071G>A p.V691I missense 0.00079097●●●●●●
26. 23871683 c.1131C>G p.D377E missense 0.00071705●●●●●●
27. 23876363 c.70C>A p.L24I missense 0.00070022●●●●●●
28. 23858107 c.4136C>T p.T1379M missense 0.00061789●●●●●●
29. 23862913 c.2890G>T p.A964S missense 0.00047771●●●●●●
30. 23862996 c.2807C>T p.A936V missense 0.00044477●●●●●●
31. 23872624 c.831G>T p.Q277H missense 0.00042011●●●●●●
32. 23855577 c.4906C>T p.R1636C missense 0.00042010●●●●●●
33. 23857530 c.4193G>A p.R1398Q missense 0.00038785●●●●●●
34. 23873602 c.643-5C>T splice site 0.00038727●●●●●●
35. 23853806 c.5410C>A p.Q1804K missense 0.00037891●●●●●●
36. 23858272 c.3979-8C>A splice site 0.00036541●●●●●●
37. 23858594 c.3978+8C>T splice site 0.00033781●●●●●●
38. 23863348 c.2614C>T p.R872C missense 0.00032125●●●●●●
39. 23858271 c.3979-7_3979-6insC splice site 0.00031614●●●●●●
40. 23870085 c.1243G>A p.G415R missense 0.00027181●●●●●●
41. 23858274 c.3979-10C>G splice site 0.00026021●●●●●●
42. 23859490 c.3508G>A p.E1170K missense 0.00024932●●●●●●
43. 23874889 c.292G>A p.E98K missense 0.00023063●●●●●●
44. 23870076 c.1252G>A p.V418M missense 0.00023062●●●●●●
45. 23862177 c.3195G>C p.Q1065H missense 0.00023062●●●●●●
46. 23856793 c.4595G>T p.R1532L missense 0.00021420●●●●●●
47. 23869918 c.1410C>T p.D470D splice site 0.00018958●●●●●●
48. 23871727 c.1087A>T p.M363L missense 0.00018947●●●●●●
49. 23857458 c.4265G>A p.R1422Q missense 0.00018945●●●●●●
50. 23855779 c.4704C>A p.N1568K missense 0.00018189●●●●●●
51. 23871665 c.1141+8G>T splice site 0.00018137●●●●●●
52. 23853725 c.5491G>A p.E1831K missense 0.00018132●●●●●●
53. 23869455 c.1581+10delT splice site 0.00018128●●●●●●
54. 23856987 c.4505G>A p.R1502Q missense 0.00018124●●●●●●
55. 23858648 c.3932C>T p.T1311I missense 0.00018120●●●●●●
56. 23855835 c.4651-3C>A splice site 0.00017802●●●●●●
57. 23858216 c.4027G>A p.D1343N missense 0.00017438●●●●●●
58. 23872631 c.824T>A p.I275N missense 0.00017299●●●●●●
59. 23858263 c.3980C>T p.A1327V missense 0.00016994●●●●●●
60. 23870174 c.1154C>T p.S385L missense 0.00016519●●●●●●
61. 23868075 c.1753G>A p.G585S missense 0.00015650●●●●●●
62. 23863498 c.2464G>A p.A822T missense 0.00014849●●●●●●
63. 23855280 c.5020G>A p.A1674T missense 0.00014834●●●●●●
64. 23854213 c.5201C>T p.S1734L missense 0.00014826●●●●●●
65. 23863277 c.2685G>A splice site 0.00014003●●●●●●
66. 23862208 c.3164G>A p.R1055Q missense 0.00014002●●●●●●
67. 23858255 c.3988G>A p.A1330T missense 0.00013190●●●●●●
68. 23873951 c.611G>A p.R204H missense 0.00013180●●●●●●
69. 23855223 c.5077G>A p.V1693M missense 0.00012365●●●●●●
70. 23852450 c.5645G>A p.R1882H missense 0.00012360●●●●●●
71. 23872662 c.800-7A>C splice site 0.00012360●●●●●●
72. 23857459 c.4264C>T p.R1422W missense 0.00012355●●●●●●
73. 23858713 c.3867G>T p.L1289F missense 0.00011531●●●●●●
74. 23874936 c.245C>T p.P82L missense 0.00011531●●●●●●
75. 23876366 c.67C>T p.R23C missense 0.00010709●●●●●●
76. 23869992 c.1336G>A p.A446T missense 0.00010708●●●●●●
77. 23870001 c.1327C>T p.R443C missense 0.00010708●●●●●●
78. 23862142 c.3230A>T p.Q1077L missense 0.00010707●●●●●●
79. 23857139 c.4360-7C>G splice site 0.00010008●●●●●●
80. 23856794 c.4594C>T p.R1532C missense 0.00009886●●●●●●
81. 23867943 c.1885G>A p.D629N missense 0.00009885●●●●●●
82. 23874503 c.431G>T p.G144V missense 0.00009884●●●●●●
83. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
84. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
85. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
86. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
87. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
88. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
89. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
90. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
91. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
92. 23866227 c.2113C>T p.R705C missense 0.00008241●●●●●●
93. 23872660 c.800-5C>T splice site 0.00008240●●●●●●
94. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
95. 23862194 c.3178G>A p.D1060N missense 0.00008237●●●●●●
96. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
97. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
98. 23872551 c.898+6C>A splice site 0.00008237●●●●●●
99. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
100. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
101. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
102. 23853924 c.5292C>T splice site 0.00007421●●●●●●
103. 23863122 c.2686-5C>T splice site 0.00007418●●●●●●
104. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
105. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
106. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
107. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
108. 23863266 c.2685+11G>A splice site 0.00007413●●●●●●
109. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
110. 23858271 c.3979-7_3979-4delTCCC splice site 0.00007092●●●●●●
111. 23863540 c.2430-8C>G splice site 0.00006640●●●●●●
112. 23853676 c.5540G>A p.R1847Q missense 0.00006599●●●●●●
113. 23866253 c.2087G>A p.R696H missense 0.00006591●●●●●●
114. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
115. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
116. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
117. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
118. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
119. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
120. 23859652 c.3346C>A p.R1116S missense 0.00006301●●●●●●
121. 23858272 c.3979-8_3979-7insA splice site 0.00006090●●●●●●
122. 23863536 c.2430-4C>A splice site 0.00005802●●●●●●
123. 23865569 c.2353C>T p.R785C missense 0.00005780●●●●●●
124. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
125. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
126. 23855205 c.5095C>T p.R1699W missense 0.00005771●●●●●●
127. 23852425 c.5661+9A>G splice site 0.00005770●●●●●●
128. 23857355 c.4359+9T>C splice site 0.00005768●●●●●●
129. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
130. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
131. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
132. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
133. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
134. 23872551 c.898+6C>T splice site 0.00005766●●●●●●
135. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
136. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
137. 23862975 c.2828G>A p.R943H missense 0.00005765●●●●●●
138. 23865616 c.2306C>T p.A769V missense 0.00004998●●●●●●
139. 23855199 c.5101C>T p.R1701W missense 0.00004948●●●●●●
140. 23855301 c.4999G>A p.D1667N missense 0.00004946●●●●●●
141. 23853731 c.5485G>C p.E1829Q missense 0.00004945●●●●●●
142. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
143. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
144. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
145. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
146. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
147. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
148. 23865896 c.2292+7C>A splice site 0.00004942●●●●●●
149. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
150. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
151. 23859652 c.3346C>T p.R1116C missense 0.00004501●●●●●●
152. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
153. 23855331 c.4969A>G p.I1657V missense 0.00004125●●●●●●
154. 23855760 c.4723G>A p.E1575K missense 0.00004124●●●●●●
155. 23858161 c.4082G>A p.R1361H missense 0.00004123●●●●●●
156. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
157. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
158. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
159. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
160. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
161. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
162. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
163. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
164. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
165. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
166. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
167. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
168. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
169. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
170. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
171. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
172. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
173. 23872995 c.736-8G>A splice site 0.00003557●●●●●●
174. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
175. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
176. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
177. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
178. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
179. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
180. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
181. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
182. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
183. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
184. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
185. 23868253 c.1582-7C>T splice site 0.00003297●●●●●●
186. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
187. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
188. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
189. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
190. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
191. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
192. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
193. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
194. 23861761 c.3342+10T>C splice site 0.00003295●●●●●●
195. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
196. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
197. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
198. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
199. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
200. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
201. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
202. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
203. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
204. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
205. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
206. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
207. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
208. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
209. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
210. 23859615 c.3383G>A p.R1128H missense 0.00002794●●●●●●
211. 23852535 c.5566-6C>T splice site 0.00002653●●●●●●
212. 23859484 c.3514G>A p.E1172K missense 0.00002561●●●●●●
213. 23857135 c.4360-3C>T splice site 0.00002500●●●●●●
214. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
215. 23855159 c.5141G>A p.R1714Q missense 0.00002480●●●●●●
216. 23853643 c.5565+8_5565+9insTT splice site 0.00002478●●●●●●
217. 23853643 c.5565+8G>A splice site 0.00002478●●●●●●
218. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
219. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
220. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
221. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
222. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
223. 23873916 c.642+4C>T splice site 0.00002476●●●●●●
224. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
225. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
226. 23855198 c.5102G>A p.R1701Q missense 0.00002474●●●●●●
227. 23874037 c.531-6C>T splice site 0.00002474●●●●●●
228. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
229. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
230. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
231. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
232. 23852434 c.5661G>A splice site 0.00002473●●●●●●
233. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
234. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
235. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
236. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
237. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
238. 23874303 c.530+6C>T splice site 0.00002472●●●●●●
239. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
240. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
241. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
242. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
243. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
244. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
245. 23858795 c.3859+7G>A splice site 0.00002471●●●●●●
246. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
247. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
248. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
249. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
250. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
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254. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
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340. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
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751. 23866004 c.2191G>T p.A731S missense 0.00000824●●●●●●
752. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
753. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
754. 23863105 c.2698C>A p.L900I missense 0.00000824●●●●●●
755. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
756. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
757. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
758. 23872663 c.800-8C>A splice site 0.00000824●●●●●●
759. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
760. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
761. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
762. 23874426 c.502+6C>A splice site 0.00000824●●●●●●
763. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
764. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
765. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
766. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
767. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
768. 23858803 c.3858T>A p.N1286K missense 0.00000824●●●●●●
769. 23865900 c.2292+3G>C splice site 0.00000824●●●●●●
770. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
771. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
772. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
773. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
774. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
775. 23862272 c.3106-6C>T splice site 0.00000824●●●●●●
776. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
777. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
778. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
779. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
780. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
781. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
782. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
783. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
784. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
785. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
786. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
787. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
788. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
789. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
790. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
791. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
792. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
793. 23863341 c.2621A>T p.E874V missense 0.00000824●●●●●●
794. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
795. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
796. 23854257 c.5164-7T>C splice site 0.00000824●●●●●●
797. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
798. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
799. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
800. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
801. 23858859 c.3802G>A p.A1268T missense 0.00000824●●●●●●
802. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
803. 23858852 c.3809G>A p.R1270H missense 0.00000824●●●●●●
804. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
805. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
806. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
807. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
808. 23862730 c.2929-3C>T splice site 0.00000824●●●●●●
809. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
810. 23863271 c.2685+6G>T splice site 0.00000824●●●●●●
811. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
812. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
813. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
814. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
815. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
816. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
817. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
818. 23865904 c.2291A>C p.K764T missense 0.00000824●●●●●●
819. 23862682 c.2974G>A p.A992T missense 0.00000824●●●●●●
820. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
821. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
822. 23857353 c.4359+11G>A splice site 0.00000824●●●●●●
823. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
824. 23862551 c.3105T>G p.D1035E missense 0.00000824●●●●●●
825. 23862233 c.3139C>T p.R1047C missense 0.00000824●●●●●●
826. 23866753 c.1961G>A p.R654Q missense 0.00000824●●●●●●
827. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
828. 23863373 c.2589G>C p.E863D missense 0.00000824●●●●●●
829. 23861826 c.3287T>A p.I1096N missense 0.00000824●●●●●●
830. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
831. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
832. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
833. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
834. 23856786 c.4602G>C p.Q1534H missense 0.00000824●●●●●●
835. 23855720 c.4763C>A p.A1588D missense 0.00000824●●●●●●
836. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
837. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
838. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
839. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
840. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
841. 23866271 c.2069T>A p.L690Q missense 0.00000824●●●●●●
842. 23863299 c.2663A>G p.D888G 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.