MYH6 protein-altering variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 23856794 c.4594C>T p.R1532C missense 0.00009886●●●●●●
2. 23867943 c.1885G>A p.D629N missense 0.00009885●●●●●●
3. 23874503 c.431G>T p.G144V missense 0.00009884●●●●●●
4. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
5. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
6. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
7. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
8. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
9. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
10. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
11. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
12. 23866227 c.2113C>T p.R705C missense 0.00008241●●●●●●
13. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
14. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
15. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
16. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
17. 23862194 c.3178G>A p.D1060N missense 0.00008237●●●●●●
18. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
19. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
20. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
21. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
22. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
23. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
24. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
25. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
26. 23853676 c.5540G>A p.R1847Q missense 0.00006599●●●●●●
27. 23866253 c.2087G>A p.R696H missense 0.00006591●●●●●●
28. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
29. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
30. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
31. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
32. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
33. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
34. 23859652 c.3346C>A p.R1116S missense 0.00006301●●●●●●
35. 23865569 c.2353C>T p.R785C missense 0.00005780●●●●●●
36. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
37. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
38. 23855205 c.5095C>T p.R1699W missense 0.00005771●●●●●●
39. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
40. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
41. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
42. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
43. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
44. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
45. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
46. 23862975 c.2828G>A p.R943H missense 0.00005765●●●●●●
47. 23865616 c.2306C>T p.A769V missense 0.00004998●●●●●●
48. 23855199 c.5101C>T p.R1701W missense 0.00004948●●●●●●
49. 23855301 c.4999G>A p.D1667N missense 0.00004946●●●●●●
50. 23853731 c.5485G>C p.E1829Q missense 0.00004945●●●●●●
51. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
52. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
53. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
54. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
55. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
56. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
57. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
58. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
59. 23859652 c.3346C>T p.R1116C missense 0.00004501●●●●●●
60. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
61. 23855331 c.4969A>G p.I1657V missense 0.00004125●●●●●●
62. 23855760 c.4723G>A p.E1575K missense 0.00004124●●●●●●
63. 23858161 c.4082G>A p.R1361H missense 0.00004123●●●●●●
64. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
65. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
66. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
67. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
68. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
69. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
70. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
71. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
72. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
73. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
74. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
75. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
76. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
77. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
78. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
79. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
80. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
81. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
82. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
83. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
84. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
85. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
86. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
87. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
88. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
89. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
90. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
91. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
92. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
93. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
94. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
95. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
96. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
97. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
98. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
99. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
100. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
101. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
102. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
103. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
104. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
105. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
106. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
107. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
108. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
109. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
110. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
111. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
112. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
113. 23859615 c.3383G>A p.R1128H missense 0.00002794●●●●●●
114. 23859484 c.3514G>A p.E1172K missense 0.00002561●●●●●●
115. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
116. 23855159 c.5141G>A p.R1714Q missense 0.00002480●●●●●●
117. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
118. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
119. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
120. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
121. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
122. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
123. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
124. 23855198 c.5102G>A p.R1701Q missense 0.00002474●●●●●●
125. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
126. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
127. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
128. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
129. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
130. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
131. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
132. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
133. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
134. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
135. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
136. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
137. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
138. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
139. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
140. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
141. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
142. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
143. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
144. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
145. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
146. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
147. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
148. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
149. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
150. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
151. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
152. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
153. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
154. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
155. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
156. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
157. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
158. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
159. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
160. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
161. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
162. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
163. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
164. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
165. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
166. 23872977 c.746T>C p.I249T missense 0.00002200●●●●●●
167. 23859655 c.3343G>A p.A1115T missense 0.00001810●●●●●●
168. 23858227 c.4016G>A p.R1339Q missense 0.00001669●●●●●●
169. 23857131 c.4361T>A p.I1454N missense 0.00001665●●●●●●
170. 23857123 c.4369G>A p.E1457K missense 0.00001663●●●●●●
171. 23857105 c.4387G>A p.E1463K missense 0.00001660●●●●●●
172. 23857101 c.4391A>C p.E1464A missense 0.00001659●●●●●●
173. 23857102 c.4390G>T p.E1464X nonsense 0.00001659●●●●●●
174. 23865593 c.2329G>A p.E777K missense 0.00001656●●●●●●
175. 23865590 c.2332A>T p.M778L missense 0.00001655●●●●●●
176. 23857541 c.4182G>C p.K1394N missense 0.00001655●●●●●●
177. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
178. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
179. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
180. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
181. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
182. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
183. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
184. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
185. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
186. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
187. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
188. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
189. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
190. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
191. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
192. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
193. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
194. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
195. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
196. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
197. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
198. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
199. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
200. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
201. 23858103 c.4140C>A p.D1380E missense 0.00001648●●●●●●
202. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
203. 23858928 c.3733G>A p.A1245T missense 0.00001648●●●●●●
204. 23866185 c.2155G>A p.D719N missense 0.00001648●●●●●●
205. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
206. 23866221 c.2119T>C p.C707R missense 0.00001648●●●●●●
207. 23857405 c.4318G>T p.A1440S missense 0.00001648●●●●●●
208. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
209. 23858107 c.4136C>A p.T1379K missense 0.00001648●●●●●●
210. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
211. 23858906 c.3755G>A p.R1252Q missense 0.00001648●●●●●●
212. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
213. 23866197 c.2143A>G p.I715V missense 0.00001648●●●●●●
214. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
215. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
216. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
217. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
218. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
219. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
220. 23857377 c.4346G>A p.R1449K missense 0.00001648●●●●●●
221. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
222. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
223. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
224. 23866254 c.2086C>T p.R696C missense 0.00001648●●●●●●
225. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
226. 23855277 c.5023A>G p.I1675V missense 0.00001648●●●●●●
227. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
228. 23856794 c.4594C>G p.R1532G missense 0.00001648●●●●●●
229. 23855264 c.5036G>A p.R1679H missense 0.00001648●●●●●●
230. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
231. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
232. 23863065 c.2738A>G p.N913S missense 0.00001647●●●●●●
233. 23858657 c.3923T>G p.L1308R missense 0.00001647●●●●●●
234. 23858825 c.3836G>A p.R1279Q missense 0.00001647●●●●●●
235. 23862181 c.3191C>T p.T1064I missense 0.00001647●●●●●●
236. 23851264 c.5805G>T p.M1935I missense 0.00001647●●●●●●
237. 23862635 c.3021G>T p.Q1007H missense 0.00001647●●●●●●
238. 23862218 c.3154C>T p.R1052X nonsense 0.00001647●●●●●●
239. 23863032 c.2771T>C p.M924T missense 0.00001647●●●●●●
240. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
241. 23863087 c.2716C>A p.R906S missense 0.00001647●●●●●●
242. 23855629 c.4854G>C p.K1618N missense 0.00001647●●●●●●
243. 23851639 c.5794A>T p.K1932X nonsense 0.00001647●●●●●●
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492. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
493. 23868101 c.1727C>T p.A576V missense 0.00000824●●●●●●
494. 23858852 c.3809G>A p.R1270H missense 0.00000824●●●●●●
495. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
496. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
497. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824●●●●●●
498. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
499. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
500. 23862588 c.3068C>T p.S1023F missense 0.00000824●●●●●●
501. 23856974 c.4518C>G p.N1506K missense 0.00000824●●●●●●
502. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
503. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
504. 23862235 c.3137T>C p.V1046A missense 0.00000824●●●●●●
505. 23862221 c.3151G>A p.E1051K missense 0.00000824●●●●●●
506. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
507. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
508. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
509. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
510. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
511. 23855740 c.4743G>T p.K1581N missense 0.00000824●●●●●●
512. 23854147 c.5267A>G p.K1756R missense 0.00000824●●●●●●
513. 23862676 c.2980C>A p.L994M missense 0.00000824●●●●●●
514. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
515. 23866417 c.2012T>G p.F671C missense 0.00000824●●●●●●
516. 23863377 c.2585A>G p.K862R missense 0.00000824●●●●●●
517. 23862152 c.3220G>T p.D1074Y missense 0.00000824●●●●●●
518. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
519. 23855647 c.4836G>C p.E1612D missense 0.00000824●●●●●●
520. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
521. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
522. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
523. 23863093 c.2710G>T p.E904X nonsense 0.00000824●●●●●●
524. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
525. 23858874 c.3787G>T p.V1263L missense 0.00000824●●●●●●
526. 23857410 c.4313A>T p.N1438I missense 0.00000824●●●●●●
527. 23855660 c.4823G>A p.R1608H missense 0.00000824●●●●●●
528. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
529. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
530. 23862956 c.2847C>A p.C949X nonsense 0.00000824●●●●●●
531. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
532. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
533. 23858720 c.3860G>A p.G1287E missense 0.00000824●●●●●●
534. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
535. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
536. 23872568 c.887C>T p.P296L missense 0.00000824●●●●●●
537. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
538. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
539. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
540. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
541. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
542. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
543. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
544. 23867996 c.1832A>T p.Q611L missense 0.00000824●●●●●●
545. 23862176 c.3196G>A p.E1066K missense 0.00000824●●●●●●
546. 23862565 c.3091C>A p.Q1031K missense 0.00000824●●●●●●
547. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
548. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
549. 23863434 c.2528A>G p.K843R missense 0.00000824●●●●●●
550. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
551. 23855633 c.4850A>C p.K1617T missense 0.00000824●●●●●●
552. 23866762 c.1952C>T p.A651V missense 0.00000824●●●●●●
553. 23863395 c.2567A>G p.E856G missense 0.00000824●●●●●●
554. 23862209 c.3163C>T p.R1055W missense 0.00000824●●●●●●
555. 23858140 c.4103C>T p.S1368L missense 0.00000824●●●●●●
556. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
557. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
558. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
559. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
560. 23854154 c.5260G>T p.E1754X nonsense 0.00000824●●●●●●
561. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
562. 23863333 c.2629G>A p.E877K missense 0.00000824●●●●●●
563. 23857468 c.4255A>C p.T1419P missense 0.00000824●●●●●●
564. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
565. 23857428 c.4295T>A p.V1432E missense 0.00000824●●●●●●
566. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
567. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
568. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
569. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
570. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
571. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
572. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
573. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
574. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
575. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
576. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
577. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
578. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
579. 23868166 c.1662C>A p.Y554X nonsense 0.00000824●●●●●●
580. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
581. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
582. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
583. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
584. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
585. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
586. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
587. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
588. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
589. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
590. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
591. 23865521 c.2401A>T p.I801F missense 0.00000824●●●●●●
592. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
593. 23856967 c.4525G>T p.E1509X nonsense 0.00000824●●●●●●
594. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
595. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
596. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
597. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
598. 23861826 c.3287T>C p.I1096T missense 0.00000824●●●●●●
599. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
600. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
601. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
602. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
603. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
604. 23862169 c.3203T>C p.I1068T missense 0.00000824●●●●●●
605. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
606. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
607. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
608. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
609. 23863105 c.2698C>A p.L900I missense 0.00000824●●●●●●
610. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
611. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
612. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
613. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
614. 23855661 c.4822C>G p.R1608G missense 0.00000824●●●●●●
615. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
616. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
617. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
618. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
619. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
620. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
621. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
622. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
623. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
624. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
625. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
626. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
627. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
628. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
629. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
630. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
631. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
632. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
633. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
634. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
635. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
636. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
637. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
638. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
639. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
640. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
641. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
642. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
643. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
644. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
645. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
646. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
647. 23863341 c.2621A>T p.E874V missense 0.00000824●●●●●●
648. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
649. 23855720 c.4763C>A p.A1588D missense 0.00000824●●●●●●
650. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
651. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
652. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
653. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
654. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
655. 23855629 c.4854G>T p.K1618N missense 0.00000824●●●●●●
656. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
657. 23858800 c.3859+2T>G essential splice site 0.00000824●●●●●●
658. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
659. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
660. 23866224 c.2116A>T p.I706F 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.