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. 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. 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. 23863266 c.2685+11G>A splice site 0.00007413●●●●●●
107. 23855711 c.4772A>G p.N1591S missense 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. 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. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
133. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
134. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
135. 23872551 c.898+6C>T splice site 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. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
143. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
144. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
145. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
146. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
147. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
148. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
149. 23863087 c.2716C>T p.R906C 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. 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. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
166. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
167. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
168. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
169. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
170. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
171. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
172. 23851743 c.5690A>G p.K1897R 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. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
181. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
182. 23855756 c.4727G>A p.R1576Q missense 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. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
190. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
191. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
192. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
193. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
194. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
195. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
196. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
197. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
198. 23861761 c.3342+10T>C splice site 0.00003295●●●●●●
199. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
200. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
201. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
202. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
203. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
204. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
205. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
206. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
207. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
208. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
209. 23863086 c.2717G>A p.R906H 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. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
222. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
223. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
224. 23873916 c.642+4C>T splice site 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. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
229. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
230. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
231. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
232. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
233. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
234. 23852434 c.5661G>A splice site 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. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
243. 23858728 c.3860-8A>G splice site 0.00002471●●●●●●
244. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
245. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
246. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
247. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
248. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
249. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
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752. 23863127 c.2686-10C>T splice site 0.00000824●●●●●●
753. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
754. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
755. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
756. 23865486 c.2429+7C>T splice site 0.00000824●●●●●●
757. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
758. 23863271 c.2685+6G>A splice site 0.00000824●●●●●●
759. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
760. 23865521 c.2401A>T p.I801F missense 0.00000824●●●●●●
761. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
762. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
763. 23858597 c.3978+5G>C splice site 0.00000824●●●●●●
764. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
765. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
766. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
767. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
768. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
769. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
770. 23862676 c.2980C>A p.L994M missense 0.00000824●●●●●●
771. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
772. 23861826 c.3287T>C p.I1096T missense 0.00000824●●●●●●
773. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
774. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
775. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
776. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
777. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
778. 23874985 c.202-6C>T splice site 0.00000824●●●●●●
779. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
780. 23855661 c.4822C>G p.R1608G missense 0.00000824●●●●●●
781. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
782. 23866004 c.2191G>T p.A731S missense 0.00000824●●●●●●
783. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
784. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
785. 23863105 c.2698C>A p.L900I missense 0.00000824●●●●●●
786. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
787. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
788. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
789. 23872663 c.800-8C>A splice site 0.00000824●●●●●●
790. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
791. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
792. 23857428 c.4295T>A p.V1432E missense 0.00000824●●●●●●
793. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
794. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
795. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
796. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
797. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
798. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
799. 23858803 c.3858T>A p.N1286K missense 0.00000824●●●●●●
800. 23865900 c.2292+3G>C splice site 0.00000824●●●●●●
801. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
802. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
803. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
804. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
805. 23874426 c.502+6C>A splice site 0.00000824●●●●●●
806. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
807. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
808. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
809. 23862272 c.3106-6C>T splice site 0.00000824●●●●●●
810. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
811. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
812. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
813. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
814. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
815. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
816. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
817. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
818. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
819. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
820. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
821. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
822. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
823. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
824. 23863341 c.2621A>T p.E874V missense 0.00000824●●●●●●
825. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
826. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
827. 23854257 c.5164-7T>C splice site 0.00000824●●●●●●
828. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
829. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
830. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
831. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
832. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
833. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
834. 23858852 c.3809G>A p.R1270H missense 0.00000824●●●●●●
835. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
836. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
837. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
838. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
839. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
840. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
841. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
842. 23858859 c.3802G>A p.A1268T 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.