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. 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. 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. 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. 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. 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. 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. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
119. 23870084 c.1244G>C p.G415A 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. 23872551 c.898+6C>T splice site 0.00005766●●●●●●
133. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
134. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
135. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
136. 23857423 c.4300G>A p.V1434I 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. 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. 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. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
167. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
168. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
169. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
170. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
171. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
172. 23862976 c.2827C>T p.R943C 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. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
180. 23874590 c.346-2A>G essential splice site 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. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
185. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
186. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
187. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
188. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
189. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
190. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
191. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
192. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
193. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
194. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
195. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
196. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
197. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
198. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
199. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
200. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
201. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
202. 23861761 c.3342+10T>C splice site 0.00003295●●●●●●
203. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
204. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
205. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
206. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
207. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
208. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
209. 23863081 c.2722G>A p.D908N 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. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
219. 23870172 c.1156G>A p.A386T 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. 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. 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. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
230. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
231. 23852434 c.5661G>A splice site 0.00002473●●●●●●
232. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
233. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
234. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
235. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
236. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
237. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
238. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
239. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
240. 23874303 c.530+6C>T splice site 0.00002472●●●●●●
241. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
242. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
243. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
244. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
245. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
246. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
247. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
248. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
249. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
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750. 23862152 c.3220G>T p.D1074Y missense 0.00000824●●●●●●
751. 23869464 c.1581+1G>A essential splice site 0.00000824●●●●●●
752. 23856732 c.4650+6G>A splice site 0.00000824●●●●●●
753. 23854231 c.5183A>G p.Q1728R missense 0.00000824●●●●●●
754. 23852450 c.5645G>T p.R1882L missense 0.00000824●●●●●●
755. 23873937 c.625A>G p.N209D missense 0.00000824●●●●●●
756. 23866754 c.1960C>T p.R654W missense 0.00000824●●●●●●
757. 23863392 c.2570A>G p.E857G missense 0.00000824●●●●●●
758. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
759. 23869539 c.1507A>G p.K503E missense 0.00000824●●●●●●
760. 23855691 c.4792T>C p.S1598P missense 0.00000824●●●●●●
761. 23853895 c.5321A>G p.E1774G missense 0.00000824●●●●●●
762. 23851680 c.5753A>T p.Q1918L missense 0.00000824●●●●●●
763. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
764. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
765. 23866275 c.2065C>A p.P689T missense 0.00000824●●●●●●
766. 23863304 c.2658G>C p.K886N missense 0.00000824●●●●●●
767. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
768. 23863093 c.2710G>T p.E904X nonsense 0.00000824●●●●●●
769. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
770. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
771. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
772. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
773. 23862956 c.2847C>A p.C949X nonsense 0.00000824●●●●●●
774. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
775. 23857371 c.4352T>C p.F1451S missense 0.00000824●●●●●●
776. 23851777 c.5662-6C>A splice site 0.00000824●●●●●●
777. 23851629 c.5796+8C>G splice site 0.00000824●●●●●●
778. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
779. 23855576 c.4907G>A p.R1636H missense 0.00000824●●●●●●
780. 23853824 c.5392C>T p.R1798W missense 0.00000824●●●●●●
781. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
782. 23868101 c.1727C>T p.A576V missense 0.00000824●●●●●●
783. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
784. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
785. 23856974 c.4518C>G p.N1506K missense 0.00000824●●●●●●
786. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
787. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
788. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
789. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
790. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
791. 23862588 c.3068C>T p.S1023F missense 0.00000824●●●●●●
792. 23856869 c.4526-7T>G splice site 0.00000824●●●●●●
793. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
794. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
795. 23863434 c.2528A>G p.K843R missense 0.00000824●●●●●●
796. 23862221 c.3151G>A p.E1051K missense 0.00000824●●●●●●
797. 23856767 c.4621G>C p.E1541Q missense 0.00000824●●●●●●
798. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
799. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
800. 23874984 c.202-5T>A splice site 0.00000824●●●●●●
801. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
802. 23874427 c.502+5G>A splice site 0.00000824●●●●●●
803. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
804. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
805. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
806. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
807. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
808. 23866417 c.2012T>G p.F671C missense 0.00000824●●●●●●
809. 23863377 c.2585A>G p.K862R missense 0.00000824●●●●●●
810. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
811. 23857410 c.4313A>T p.N1438I missense 0.00000824●●●●●●
812. 23855660 c.4823G>A p.R1608H missense 0.00000824●●●●●●
813. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
814. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
815. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
816. 23854154 c.5260G>T p.E1754X nonsense 0.00000824●●●●●●
817. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
818. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
819. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
820. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
821. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
822. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
823. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
824. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
825. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
826. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
827. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
828. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
829. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
830. 23863121 c.2686-4C>T splice site 0.00000824●●●●●●
831. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
832. 23858678 c.3902C>T p.S1301L missense 0.00000824●●●●●●
833. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
834. 23857360 c.4359+4G>T splice site 0.00000824●●●●●●
835. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
836. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824●●●●●●
837. 23862565 c.3091C>A p.Q1031K missense 0.00000824●●●●●●
838. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
839. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
840. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
841. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
842. 23867996 c.1832A>T p.Q611L 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.