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. 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. 23870001 c.1327C>T p.R443C missense 0.00010708●●●●●●
77. 23869992 c.1336G>A p.A446T 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. 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. 23862194 c.3178G>A p.D1060N 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. 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. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
105. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
106. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
107. 23863266 c.2685+11G>A splice site 0.00007413●●●●●●
108. 23867960 c.1868C>T p.S623F 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. 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. 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. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
133. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
134. 23872551 c.898+6C>T splice site 0.00005766●●●●●●
135. 23853868 c.5348G>A p.R1783H 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. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
143. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
144. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
145. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
146. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
147. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
148. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
149. 23868200 c.1628A>G p.K543R 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. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
161. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
162. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
163. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
164. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
165. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
166. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
167. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
168. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
169. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
170. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
171. 23858708 c.3872G>A p.R1291Q 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. 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. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
181. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
182. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
183. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
184. 23868253 c.1582-7C>T splice site 0.00003297●●●●●●
185. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
186. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
187. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
188. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
189. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
190. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
191. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
192. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
193. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
194. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
195. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
196. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
197. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
198. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
199. 23861761 c.3342+10T>C splice site 0.00003295●●●●●●
200. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
201. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
202. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
203. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
204. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
205. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
206. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
207. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
208. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
209. 23856964 c.4525+3G>A splice site 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. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
219. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
220. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
221. 23873916 c.642+4C>T splice site 0.00002476●●●●●●
222. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
223. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
224. 0 c.-13-1G>A essential 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. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
229. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
230. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
231. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
232. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
233. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
234. 23852434 c.5661G>A splice site 0.00002473●●●●●●
235. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
236. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
237. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
238. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
239. 23874303 c.530+6C>T splice site 0.00002472●●●●●●
240. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
241. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
242. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
243. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
244. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
245. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
246. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
247. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
248. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
249. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
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251. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
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253. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
254. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
255. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
256. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
257. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
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259. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
260. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
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262. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
263. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
264. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
265. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
266. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
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321. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
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344. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
345. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
346. 23861870 c.3252-9_3252-5delCTCCT splice site 0.00001648●●●●●●
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499. 23866793 c.1921A>C p.K641Q missense 0.00000825●●●●●●
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747. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
748. 23868178 c.1650G>C p.K550N missense 0.00000824●●●●●●
749. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
750. 23868212 c.1616G>A p.C539Y missense 0.00000824●●●●●●
751. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
752. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
753. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
754. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
755. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
756. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
757. 23869539 c.1507A>G p.K503E missense 0.00000824●●●●●●
758. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
759. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
760. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
761. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
762. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
763. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
764. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
765. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
766. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
767. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
768. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
769. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
770. 23872568 c.887C>T p.P296L missense 0.00000824●●●●●●
771. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
772. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
773. 23872617 c.838G>T p.A280S missense 0.00000824●●●●●●
774. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
775. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
776. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
777. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
778. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
779. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
780. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
781. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
782. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
783. 23874488 c.446A>T p.E149V missense 0.00000824●●●●●●
784. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
785. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
786. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
787. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
788. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
789. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
790. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
791. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
792. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
793. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
794. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
795. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
796. 23876258 c.175G>A p.V59I missense 0.00000824●●●●●●
797. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
798. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
799. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
800. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
801. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
802. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
803. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
804. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
805. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
806. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
807. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
808. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
809. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
810. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
811. 23858600 c.3978+2T>C essential splice site 0.00000824●●●●●●
812. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
813. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
814. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
815. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
816. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
817. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
818. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
819. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
820. 23851629 c.5796+8C>G splice site 0.00000824●●●●●●
821. 23851633 c.5796+4G>A splice site 0.00000824●●●●●●
822. 23852429 c.5661+5G>C splice site 0.00000824●●●●●●
823. 23852431 c.5661+3G>A splice site 0.00000824●●●●●●
824. 23854254 c.5164-4C>G splice site 0.00000824●●●●●●
825. 23854257 c.5164-7T>C splice site 0.00000824●●●●●●
826. 23856732 c.4650+6G>A splice site 0.00000824●●●●●●
827. 23856866 c.4526-4C>T splice site 0.00000824●●●●●●
828. 23858597 c.3978+5G>C splice site 0.00000824●●●●●●
829. 23862272 c.3106-6C>T splice site 0.00000824●●●●●●
830. 23863271 c.2685+6G>A splice site 0.00000824●●●●●●
831. 23863271 c.2685+6G>T splice site 0.00000824●●●●●●
832. 23865486 c.2429+7C>T splice site 0.00000824●●●●●●
833. 23865900 c.2292+3G>C splice site 0.00000824●●●●●●
834. 23865900 c.2292+3G>A splice site 0.00000824●●●●●●
835. 23866032 c.2169-6C>T splice site 0.00000824●●●●●●
836. 23867932 c.1891+5G>A splice site 0.00000824●●●●●●
837. 23871669 c.1141+4G>T splice site 0.00000824●●●●●●
838. 23872663 c.800-8C>A splice site 0.00000824●●●●●●
839. 23874424 c.502+8T>A splice site 0.00000824●●●●●●
840. 23874427 c.502+5G>A splice site 0.00000824●●●●●●
841. 23874984 c.202-5T>A splice site 0.00000824●●●●●●
842. 23874985 c.202-6C>T 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.