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. 23872662 c.800-7A>C splice site 0.00012360●●●●●●
71. 23852450 c.5645G>A p.R1882H missense 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. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
84. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
85. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
86. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
87. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
88. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
89. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
90. 23853923 c.5293G>A p.A1765T 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. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
96. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
97. 23872551 c.898+6C>A splice site 0.00008237●●●●●●
98. 23862194 c.3178G>A p.D1060N missense 0.00008237●●●●●●
99. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
100. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
101. 23853924 c.5292C>T splice site 0.00007421●●●●●●
102. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
103. 23863122 c.2686-5C>T splice site 0.00007418●●●●●●
104. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
105. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
106. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
107. 23863266 c.2685+11G>A splice site 0.00007413●●●●●●
108. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
109. 23867960 c.1868C>T p.S623F 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. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
116. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
117. 23853758 c.5458C>T p.R1820W 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. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
130. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
131. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
132. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
133. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
134. 23872551 c.898+6C>T splice site 0.00005766●●●●●●
135. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
136. 23858853 c.3808C>T p.R1270C 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. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
143. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
144. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
145. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
146. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
147. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
148. 23865896 c.2292+7C>A splice site 0.00004942●●●●●●
149. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
150. 23868200 c.1628A>G p.K543R 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. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
157. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
158. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
159. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
160. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
161. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
162. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
163. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
164. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
165. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
166. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
167. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
168. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
169. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
170. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
171. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
172. 23855655 c.4828C>T p.R1610C 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. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
180. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
181. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
182. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
183. 23868253 c.1582-7C>T splice site 0.00003297●●●●●●
184. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
185. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
186. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
187. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
188. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
189. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
190. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
191. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
192. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
193. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
194. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
195. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
196. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
197. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
198. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
199. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
200. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
201. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
202. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
203. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
204. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
205. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
206. 23861761 c.3342+10T>C splice site 0.00003295●●●●●●
207. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
208. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
209. 23862667 c.2989G>C p.E997Q 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. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
220. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
221. 23873916 c.642+4C>T splice site 0.00002476●●●●●●
222. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
223. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
224. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
225. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
226. 23874037 c.531-6C>T splice site 0.00002474●●●●●●
227. 23855198 c.5102G>A p.R1701Q missense 0.00002474●●●●●●
228. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
229. 23855310 c.4990C>T p.R1664C 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. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
234. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
235. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
236. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
237. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
238. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
239. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
240. 23874303 c.530+6C>T splice site 0.00002472●●●●●●
241. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
242. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
243. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
244. 23858795 c.3859+7G>A splice site 0.00002471●●●●●●
245. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
246. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
247. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
248. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
249. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
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752. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
753. 23853824 c.5392C>T p.R1798W missense 0.00000824●●●●●●
754. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
755. 23857516 c.4207G>T p.E1403X nonsense 0.00000824●●●●●●
756. 23855757 c.4726C>T p.R1576W missense 0.00000824●●●●●●
757. 23863373 c.2589G>C p.E863D missense 0.00000824●●●●●●
758. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
759. 23858874 c.3787G>T p.V1263L missense 0.00000824●●●●●●
760. 23857417 c.4306C>A p.R1436S missense 0.00000824●●●●●●
761. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
762. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
763. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
764. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
765. 23866753 c.1961G>A p.R654Q missense 0.00000824●●●●●●
766. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
767. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
768. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
769. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
770. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
771. 23866271 c.2069T>A p.L690Q missense 0.00000824●●●●●●
772. 23863299 c.2663A>G p.D888G missense 0.00000824●●●●●●
773. 23862711 c.2945A>G p.E982G missense 0.00000824●●●●●●
774. 23858720 c.3860G>A p.G1287E missense 0.00000824●●●●●●
775. 23856869 c.4526-7T>G splice site 0.00000824●●●●●●
776. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
777. 23868090 c.1738C>A p.L580M missense 0.00000824●●●●●●
778. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
779. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
780. 23867932 c.1891+5G>A splice site 0.00000824●●●●●●
781. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
782. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
783. 23865900 c.2292+3G>A splice site 0.00000824●●●●●●
784. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
785. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
786. 23862235 c.3137T>C p.V1046A missense 0.00000824●●●●●●
787. 23856799 c.4589A>T p.K1530M missense 0.00000824●●●●●●
788. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
789. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
790. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
791. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
792. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
793. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
794. 23862152 c.3220G>T p.D1074Y missense 0.00000824●●●●●●
795. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
796. 23867997 c.1831C>T p.Q611X nonsense 0.00000824●●●●●●
797. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
798. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
799. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
800. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
801. 23867952 c.1876G>A p.A626T missense 0.00000824●●●●●●
802. 23863474 c.2488C>T p.P830S missense 0.00000824●●●●●●
803. 23855691 c.4792T>C p.S1598P missense 0.00000824●●●●●●
804. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
805. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
806. 23866402 c.2027T>A p.I676N missense 0.00000824●●●●●●
807. 23855576 c.4907G>A p.R1636H missense 0.00000824●●●●●●
808. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
809. 23866287 c.2053G>A p.V685M missense 0.00000824●●●●●●
810. 23863342 c.2620G>T p.E874X nonsense 0.00000824●●●●●●
811. 23874424 c.502+8T>A splice site 0.00000824●●●●●●
812. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
813. 23862956 c.2847C>A p.C949X nonsense 0.00000824●●●●●●
814. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
815. 23857371 c.4352T>C p.F1451S missense 0.00000824●●●●●●
816. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
817. 23857360 c.4359+4G>T splice site 0.00000824●●●●●●
818. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
819. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
820. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
821. 23863075 c.2728C>A p.L910M missense 0.00000824●●●●●●
822. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
823. 23862588 c.3068C>T p.S1023F missense 0.00000824●●●●●●
824. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
825. 23852429 c.5661+5G>C splice site 0.00000824●●●●●●
826. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
827. 23868212 c.1616G>A p.C539Y missense 0.00000824●●●●●●
828. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
829. 23856974 c.4518C>G p.N1506K missense 0.00000824●●●●●●
830. 23863121 c.2686-4C>T splice site 0.00000824●●●●●●
831. 23868178 c.1650G>C p.K550N missense 0.00000824●●●●●●
832. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
833. 23862221 c.3151G>A p.E1051K missense 0.00000824●●●●●●
834. 23856767 c.4621G>C p.E1541Q missense 0.00000824●●●●●●
835. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
836. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824●●●●●●
837. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
838. 23868044 c.1784T>A p.L595Q missense 0.00000824●●●●●●
839. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
840. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
841. 23865916 c.2279T>C p.F760S missense 0.00000824●●●●●●
842. 23854147 c.5267A>G p.K1756R 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.