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. 23862177 c.3195G>C p.Q1065H missense 0.00023062●●●●●●
45. 23870076 c.1252G>A p.V418M 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. 23874936 c.245C>T p.P82L missense 0.00011531●●●●●●
74. 23858713 c.3867G>T p.L1289F 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. 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. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
90. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
91. 23866227 c.2113C>T p.R705C missense 0.00008241●●●●●●
92. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
93. 23872660 c.800-5C>T splice site 0.00008240●●●●●●
94. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
95. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
96. 23872551 c.898+6C>A splice site 0.00008237●●●●●●
97. 23862194 c.3178G>A p.D1060N missense 0.00008237●●●●●●
98. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
99. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
100. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
101. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
102. 23853924 c.5292C>T splice site 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. 23863266 c.2685+11G>A splice site 0.00007413●●●●●●
107. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
108. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
109. 23869560 c.1486G>A p.V496M 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. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
114. 23866253 c.2087G>A p.R696H missense 0.00006591●●●●●●
115. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
116. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
117. 23857395 c.4328C>A p.A1443D 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. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
132. 23872551 c.898+6C>T splice site 0.00005766●●●●●●
133. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
134. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
135. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
136. 23853868 c.5348G>A p.R1783H 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. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
143. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
144. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
145. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
146. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
147. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
148. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
149. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
150. 23865896 c.2292+7C>A splice site 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. 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. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
166. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
167. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
168. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
169. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
170. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
171. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
172. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
173. 23872995 c.736-8G>A splice site 0.00003557●●●●●●
174. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
175. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
176. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
177. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
178. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
179. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
180. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
181. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
182. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
183. 23868253 c.1582-7C>T splice site 0.00003297●●●●●●
184. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
185. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
186. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
187. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
188. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
189. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
190. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
191. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
192. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
193. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
194. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
195. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
196. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
197. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
198. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
199. 23861761 c.3342+10T>C splice site 0.00003295●●●●●●
200. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
201. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
202. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
203. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
204. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
205. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
206. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
207. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
208. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
209. 23857416 c.4307G>A p.R1436H 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+8G>A splice site 0.00002478●●●●●●
217. 23853643 c.5565+8_5565+9insTT splice site 0.00002478●●●●●●
218. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
219. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
220. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
221. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
222. 23873916 c.642+4C>T 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. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
230. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
231. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
232. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
233. 23852434 c.5661G>A splice site 0.00002473●●●●●●
234. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
235. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
236. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
237. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
238. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
239. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
240. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
241. 23874303 c.530+6C>T splice site 0.00002472●●●●●●
242. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
243. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
244. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
245. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
246. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
247. 23858728 c.3860-8A>G splice site 0.00002471●●●●●●
248. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
249. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
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752. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
753. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
754. 23863127 c.2686-10C>T splice site 0.00000824●●●●●●
755. 23851629 c.5796+8C>G splice site 0.00000824●●●●●●
756. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
757. 23857410 c.4313A>T p.N1438I missense 0.00000824●●●●●●
758. 23855660 c.4823G>A p.R1608H missense 0.00000824●●●●●●
759. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
760. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
761. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
762. 23858678 c.3902C>T p.S1301L missense 0.00000824●●●●●●
763. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
764. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
765. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
766. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
767. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
768. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
769. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
770. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
771. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
772. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
773. 23863434 c.2528A>G p.K843R missense 0.00000824●●●●●●
774. 23862565 c.3091C>A p.Q1031K missense 0.00000824●●●●●●
775. 23866417 c.2012T>G p.F671C missense 0.00000824●●●●●●
776. 23863377 c.2585A>G p.K862R missense 0.00000824●●●●●●
777. 23874984 c.202-5T>A splice site 0.00000824●●●●●●
778. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
779. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
780. 23862209 c.3163C>T p.R1055W missense 0.00000824●●●●●●
781. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
782. 23874427 c.502+5G>A splice site 0.00000824●●●●●●
783. 23863121 c.2686-4C>T splice site 0.00000824●●●●●●
784. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
785. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
786. 23862169 c.3203T>C p.I1068T missense 0.00000824●●●●●●
787. 23858140 c.4103C>T p.S1368L missense 0.00000824●●●●●●
788. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
789. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
790. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
791. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824●●●●●●
792. 23863333 c.2629G>A p.E877K missense 0.00000824●●●●●●
793. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
794. 23874426 c.502+6C>A splice site 0.00000824●●●●●●
795. 23857468 c.4255A>C p.T1419P missense 0.00000824●●●●●●
796. 23855740 c.4743G>T p.K1581N missense 0.00000824●●●●●●
797. 23854147 c.5267A>G p.K1756R missense 0.00000824●●●●●●
798. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
799. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
800. 23858847 c.3814C>T p.L1272F missense 0.00000824●●●●●●
801. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
802. 23855647 c.4836G>C p.E1612D missense 0.00000824●●●●●●
803. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
804. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
805. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
806. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
807. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
808. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
809. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
810. 23867996 c.1832A>T p.Q611L missense 0.00000824●●●●●●
811. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
812. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
813. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
814. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
815. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
816. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
817. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
818. 23863395 c.2567A>G p.E856G missense 0.00000824●●●●●●
819. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
820. 23862176 c.3196G>A p.E1066K missense 0.00000824●●●●●●
821. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
822. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
823. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
824. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
825. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
826. 23856866 c.4526-4C>T splice site 0.00000824●●●●●●
827. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
828. 23874488 c.446A>T p.E149V missense 0.00000824●●●●●●
829. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
830. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
831. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
832. 23862928 c.2875C>G p.L959V missense 0.00000824●●●●●●
833. 23866762 c.1952C>T p.A651V missense 0.00000824●●●●●●
834. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
835. 23861826 c.3287T>C p.I1096T missense 0.00000824●●●●●●
836. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
837. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
838. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
839. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
840. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
841. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
842. 23854254 c.5164-4C>G 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.