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. 23876267 c.166G>A p.G56R missense 0.06979618●●●●●●
2. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
3. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
4. 23872631 c.824T>A p.I275N missense 0.00017299●●●●●●
5. 23871683 c.1131C>G p.D377E missense 0.00071705●●●●●●
6. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
7. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
8. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
9. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
10. 23863383 c.2579G>A p.R860H missense 0.00166387●●●●●●
11. 23862646 c.3010G>T p.A1004S missense 0.00098013●●●●●●
12. 23862177 c.3195G>C p.Q1065H missense 0.00023062●●●●●●
13. 23861811 c.3302T>C p.V1101A missense 0.34609809●●●●●●
14. 23859652 c.3346C>A p.R1116S missense 0.00006301●●●●●●
15. 23859610 c.3388G>A p.A1130T missense 0.10033088●●●●●●
16. 23858697 c.3883G>C p.E1295Q missense 0.00324531●●●●●●
17. 23857405 c.4318G>C p.A1440P missense 0.00000824●●●●●●
18. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
19. 23857123 c.4369G>A p.E1457K missense 0.00001663●●●●●●
20. 23856987 c.4505G>A p.R1502Q missense 0.00018124●●●●●●
21. 23856793 c.4595G>T p.R1532L missense 0.00021420●●●●●●
22. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
23. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
24. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
25. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
26. 23853806 c.5410C>A p.Q1804K missense 0.00037891●●●●●●
27. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
28. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
29. 23854213 c.5201C>T p.S1734L missense 0.00014826●●●●●●
30. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
31. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
32. 23855577 c.4906C>T p.R1636C missense 0.00042010●●●●●●
33. 23855633 c.4850A>C p.K1617T missense 0.00000824●●●●●●
34. 23855702 c.4781G>A p.R1594Q missense 0.00001647●●●●●●
35. 23855779 c.4704C>A p.N1568K missense 0.00018189●●●●●●
36. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
37. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
38. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
39. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
40. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
41. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
42. 23857530 c.4193G>A p.R1398Q missense 0.00038785●●●●●●
43. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
44. 23858107 c.4136C>T p.T1379M missense 0.00061789●●●●●●
45. 23858263 c.3980C>T p.A1327V missense 0.00016994●●●●●●
46. 23858713 c.3867G>T p.L1289F missense 0.00011531●●●●●●
47. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
48. 23861824 c.3289G>A p.E1097K missense 0.00001647●●●●●●
49. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
50. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
51. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
52. 23862913 c.2890G>T p.A964S missense 0.00047771●●●●●●
53. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
54. 23862997 c.2806G>T p.A936S missense 0.00238856●●●●●●
55. 23863065 c.2738A>G p.N913S missense 0.00001647●●●●●●
56. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
57. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
58. 23863498 c.2464G>A p.A822T missense 0.00014849●●●●●●
59. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
60. 23865616 c.2306C>T p.A769V missense 0.00004998●●●●●●
61. 23866269 c.2071G>A p.V691I missense 0.00079097●●●●●●
62. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
63. 23868065 c.1763A>C p.D588A missense 0.00213337●●●●●●
64. 23868075 c.1753G>A p.G585S missense 0.00015650●●●●●●
65. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
66. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
67. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
68. 23870076 c.1252G>A p.V418M missense 0.00023062●●●●●●
69. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
70. 23871682 c.1132G>A p.G378S missense 0.00088192●●●●●●
71. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
72. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
73. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
74. 23872624 c.831G>T p.Q277H missense 0.00042011●●●●●●
75. 23873940 c.622G>A p.D208N missense 0.00550374●●●●●●
76. 23874842 c.339G>T p.M113I missense 0.00000825●●●●●●
77. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
78. 23874889 c.292G>A p.E98K missense 0.00023063●●●●●●
79. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
80. 23876347 c.86G>A p.R29Q missense 0.00149923●●●●●●
81. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
82. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
83. 23865587 c.2335C>T p.R779W missense 0.00000827●●●●●●
84. 23867943 c.1885G>A p.D629N missense 0.00009885●●●●●●
85. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
86. 23870001 c.1327C>T p.R443C missense 0.00010708●●●●●●
87. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
88. 23852450 c.5645G>A p.R1882H missense 0.00012360●●●●●●
89. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
90. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
91. 23855160 c.5140C>T p.R1714W missense 0.00000826●●●●●●
92. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
93. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
94. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
95. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
96. 23855762 c.4721T>A p.I1574N missense 0.00000825●●●●●●
97. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
98. 23856786 c.4602G>C p.Q1534H missense 0.00000824●●●●●●
99. 23856794 c.4594C>T p.R1532C missense 0.00009886●●●●●●
100. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
101. 23857430 c.4293G>A p.M1431I missense 0.00174621●●●●●●
102. 23857459 c.4264C>T p.R1422W missense 0.00012355●●●●●●
103. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
104. 23858825 c.3836G>A p.R1279Q missense 0.00001647●●●●●●
105. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
106. 23862705 c.2951T>C p.M984T missense 0.00001647●●●●●●
107. 23862996 c.2807C>T p.A936V missense 0.00044477●●●●●●
108. 23863348 c.2614C>T p.R872C missense 0.00032125●●●●●●
109. 23863371 c.2591C>T p.T864M missense 0.00001647●●●●●●
110. 23863514 c.2448C>G p.I816M missense 0.00000826●●●●●●
111. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
112. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
113. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
114. 23865565 c.2357T>A p.I786N missense 0.00000825●●●●●●
115. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
116. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
117. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
118. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
119. 23870079 c.1249A>G p.S417G missense 0.00001647●●●●●●
120. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
121. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
122. 23871727 c.1087A>T p.M363L missense 0.00018947●●●●●●
123. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
124. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
125. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
126. 23873549 c.691T>C p.F231L missense 0.00001647●●●●●●
127. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
128. 23873951 c.611G>A p.R204H missense 0.00013180●●●●●●
129. 23874503 c.431G>T p.G144V missense 0.00009884●●●●●●
130. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
131. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
132. 23851264 c.5805G>T p.M1935I missense 0.00001647●●●●●●
133. 23851698 c.5735C>T p.A1912V missense 0.00001647●●●●●●
134. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
135. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
136. 23853725 c.5491G>A p.E1831K missense 0.00018132●●●●●●
137. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
138. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
139. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
140. 23855223 c.5077G>A p.V1693M missense 0.00012365●●●●●●
141. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
142. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
143. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
144. 23855760 c.4723G>A p.E1575K missense 0.00004124●●●●●●
145. 23855798 c.4685G>T p.R1562L missense 0.00000832●●●●●●
146. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
147. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
148. 23857101 c.4391A>C p.E1464A missense 0.00001659●●●●●●
149. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
150. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
151. 23858254 c.3989C>T p.A1330V missense 0.00000873●●●●●●
152. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
153. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
154. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
155. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
156. 23859615 c.3383G>A p.R1128H missense 0.00002794●●●●●●
157. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
158. 23859652 c.3346C>T p.R1116C missense 0.00004501●●●●●●
159. 23859655 c.3343G>A p.A1115T missense 0.00001810●●●●●●
160. 23862142 c.3230A>T p.Q1077L missense 0.00010707●●●●●●
161. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
162. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
163. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
164. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
165. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
166. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
167. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
168. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
169. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
170. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
171. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
172. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
173. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
174. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
175. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
176. 23871980 c.928G>A p.D310N missense 0.00000830●●●●●●
177. 23873506 c.734T>C p.F245S missense 0.00001647●●●●●●
178. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
179. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
180. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
181. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
182. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
183. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
184. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
185. 23876363 c.70C>A p.L24I missense 0.00070022●●●●●●
186. 23869511 c.1535T>C p.I512T missense 0.00001647●●●●●●
187. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
188. 23863032 c.2771T>C p.M924T missense 0.00001647●●●●●●
189. 23862676 c.2980C>A p.L994M missense 0.00000824●●●●●●
190. 23852509 c.5586C>G p.N1862K missense 0.00000828●●●●●●
191. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
192. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
193. 23855280 c.5020G>A p.A1674T missense 0.00014834●●●●●●
194. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
195. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
196. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
197. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
198. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
199. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
200. 23857458 c.4265G>A p.R1422Q missense 0.00018945●●●●●●
201. 23858161 c.4082G>A p.R1361H missense 0.00004123●●●●●●
202. 23858648 c.3932C>T p.T1311I missense 0.00018120●●●●●●
203. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
204. 23861839 c.3274C>G p.Q1092E missense 0.00001647●●●●●●
205. 23862176 c.3196G>A p.E1066K missense 0.00000824●●●●●●
206. 23862208 c.3164G>A p.R1055Q missense 0.00014002●●●●●●
207. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
208. 23862928 c.2875C>G p.L959V missense 0.00000824●●●●●●
209. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
210. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
211. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
212. 23865569 c.2353C>T p.R785C missense 0.00005780●●●●●●
213. 23865922 c.2273A>G p.Y758C missense 0.00001647●●●●●●
214. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
215. 23866004 c.2191G>T p.A731S missense 0.00000824●●●●●●
216. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
217. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
218. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
219. 23869635 c.1411T>C p.F471L missense 0.00000828●●●●●●
220. 23869992 c.1336G>A p.A446T missense 0.00010708●●●●●●
221. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
222. 23870085 c.1243G>A p.G415R missense 0.00027181●●●●●●
223. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
224. 23871971 c.937T>G p.F313V missense 0.00000828●●●●●●
225. 23873527 c.713G>A p.R238Q missense 0.00001647●●●●●●
226. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
227. 23873937 c.625A>G p.N209D missense 0.00000824●●●●●●
228. 23874936 c.245C>T p.P82L missense 0.00011531●●●●●●
229. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
230. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
231. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
232. 23851653 c.5780G>T p.R1927L missense 0.00000824●●●●●●
233. 23851653 c.5780G>A p.R1927H missense 0.00001647●●●●●●
234. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
235. 23851680 c.5753A>T p.Q1918L missense 0.00000824●●●●●●
236. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
237. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
238. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
239. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
240. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
241. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
242. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
243. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
244. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
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295. 23855189 c.5111C>T p.A1704V missense 0.00000825●●●●●●
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744. 23853643 c.5565+8_5565+9insTT splice site 0.00002478●●●●●●
745. 23853643 c.5565+8G>A splice site 0.00002478●●●●●●
746. 23853644 c.5565+7C>T splice site 0.00000826●●●●●●
747. 23853646 c.5565+5G>T splice site 0.00000826●●●●●●
748. 23853647 c.5565+4C>T splice site 0.00000826●●●●●●
749. 23853924 c.5292C>T splice site 0.00007421●●●●●●
750. 23853930 c.5290-4A>G splice site 0.00001649●●●●●●
751. 23854254 c.5164-4C>G splice site 0.00000824●●●●●●
752. 23854257 c.5164-7T>C splice site 0.00000824●●●●●●
753. 23855346 c.4960-6G>C splice site 0.00000826●●●●●●
754. 23855835 c.4651-3C>A splice site 0.00017802●●●●●●
755. 23855836 c.4651-4C>A splice site 0.00001696●●●●●●
756. 23855836 c.4651-4C>T splice site 0.00000848●●●●●●
757. 23856732 c.4650+6G>A splice site 0.00000824●●●●●●
758. 23856866 c.4526-4C>T splice site 0.00000824●●●●●●
759. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
760. 23857135 c.4360-3C>T splice site 0.00002500●●●●●●
761. 23857138 c.4360-6G>A splice site 0.00001667●●●●●●
762. 23857553 c.4176-6G>T splice site 0.00000833●●●●●●
763. 23858271 c.3979-7_3979-4delTCCC splice site 0.00007092●●●●●●
764. 23858267 c.3979-3C>G splice site 0.00002364●●●●●●
765. 23858271 c.3979-7_3979-6delTC splice site 0.00001126●●●●●●
766. 23858272 c.3979-8C>A splice site 0.00036541●●●●●●
767. 23858272 c.3979-8_3979-7insA splice site 0.00006090●●●●●●
768. 23858597 c.3978+5G>C splice site 0.00000824●●●●●●
769. 23858728 c.3860-8A>G splice site 0.00002471●●●●●●
770. 23858795 c.3859+7G>A splice site 0.00002471●●●●●●
771. 23861870 c.3252-9_3252-5delCTCCT splice site 0.00001648●●●●●●
772. 23862272 c.3106-6C>T splice site 0.00000824●●●●●●
773. 23862875 c.2928G>A splice site 0.00001647●●●●●●
774. 23863122 c.2686-5C>T splice site 0.00007418●●●●●●
775. 23863271 c.2685+6G>A splice site 0.00000824●●●●●●
776. 23863271 c.2685+6G>T splice site 0.00000824●●●●●●
777. 23863277 c.2685G>A splice site 0.00014003●●●●●●
778. 23865486 c.2429+7C>T splice site 0.00000824●●●●●●
779. 23865634 c.2293-5_2293-4insAG splice site 0.00000845●●●●●●
780. 23865634 c.2293-5T>A splice site 0.00000846●●●●●●
781. 23865896 c.2292+7C>A splice site 0.00004942●●●●●●
782. 23865900 c.2292+3G>C splice site 0.00000824●●●●●●
783. 23865900 c.2292+3G>A splice site 0.00000824●●●●●●
784. 23866031 c.2169-5C>T splice site 0.00001647●●●●●●
785. 23866032 c.2169-6C>T splice site 0.00000824●●●●●●
786. 23867932 c.1891+5G>A splice site 0.00000824●●●●●●
787. 23871667 c.1141+6A>T splice site 0.00000825●●●●●●
788. 23871669 c.1141+4G>T splice site 0.00000824●●●●●●
789. 23871815 c.1003-4C>G splice site 0.00001649●●●●●●
790. 23871900 c.1002+6T>G splice site 0.00000826●●●●●●
791. 23871900 c.1002+6T>C splice site 0.00000826●●●●●●
792. 23872016 c.899-7G>T splice site 0.00001696●●●●●●
793. 23872551 c.898+6C>A splice site 0.00008237●●●●●●
794. 23872660 c.800-5C>T splice site 0.00008240●●●●●●
795. 23872663 c.800-8C>A splice site 0.00000824●●●●●●
796. 23872995 c.736-8G>A splice site 0.00003557●●●●●●
797. 23873600 c.643-3T>C splice site 0.00001648●●●●●●
798. 23874036 c.531-5C>T splice site 0.00000825●●●●●●
799. 23874037 c.531-6C>T splice site 0.00002474●●●●●●
800. 23874424 c.502+8T>A splice site 0.00000824●●●●●●
801. 23874427 c.502+5G>A splice site 0.00000824●●●●●●
802. 23874836 c.345T>C splice site 0.00000826●●●●●●
803. 23874977 c.204G>A splice site 0.00001647●●●●●●
804. 23874984 c.202-5T>A splice site 0.00000824●●●●●●
805. 23874985 c.202-6C>T splice site 0.00000824●●●●●●
806. 23876232 c.201G>A splice site 0.00000825●●●●●●
807. 23876444 c.-12G>A splice site 0.00000825●●●●●●
808. 0 c.-13-7G>T splice site 0.00000826●●●●●●
809. 23869464 c.1581+1G>A essential splice site 0.00000824●●●●●●
810. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
811. 23858800 c.3859+2T>G essential splice site 0.00000824●●●●●●
812. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
813. 23853649 c.5565+2T>A essential splice site 0.00000826●●●●●●
814. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
815. 23855833 c.4651-1G>A essential splice site 0.00000845●●●●●●
816. 23858266 c.3979-2A>C essential splice site 0.00001129●●●●●●
817. 23858600 c.3978+2T>C essential splice site 0.00000824●●●●●●
818. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
819. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
820. 23865632 c.2293-3_2293-2delCA essential splice site 0.00000842●●●●●●
821. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
822. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
823. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
824. 23871905 c.1002+1G>A essential splice site 0.00000826●●●●●●
825. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
826. 0 c.-13-1G>C essential splice site 0.00000825●●●●●●
827. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
828. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
829. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
830. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
831. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647●●●●●●
832. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
833. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
834. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
835. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106●●●●●●
836. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324●●●●●●
837. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
838. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
839. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
840. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
841. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
842. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●

* 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.