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. 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. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
84. 23876318 c.115G>A p.V39M 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. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
96. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
97. 23872551 c.898+6C>A splice site 0.00008237●●●●●●
98. 23862194 c.3178G>A p.D1060N 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. 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. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
130. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
131. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
132. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
133. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
134. 23872551 c.898+6C>T splice site 0.00005766●●●●●●
135. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
136. 23865989 c.2206C>A p.Q736K 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. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
148. 23865896 c.2292+7C>A splice site 0.00004942●●●●●●
149. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
150. 23869981 c.1347G>T p.E449D missense 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. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
161. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
162. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
163. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
164. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
165. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
166. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
167. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
168. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
169. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
170. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
171. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
172. 23855655 c.4828C>T p.R1610C 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. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
181. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
182. 23871675 c.1139A>C p.E380A 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. 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. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
190. 23861761 c.3342+10T>C splice site 0.00003295●●●●●●
191. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
192. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
193. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
194. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
195. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
196. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
197. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
198. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
199. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
200. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
201. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
202. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
203. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
204. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
205. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
206. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
207. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
208. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
209. 23857416 c.4307G>A p.R1436H 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. 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. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
229. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
230. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
231. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
232. 23852434 c.5661G>A splice site 0.00002473●●●●●●
233. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
234. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
235. 23874303 c.530+6C>T splice site 0.00002472●●●●●●
236. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
237. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
238. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
239. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
240. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
241. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
242. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
243. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
244. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
245. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
246. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
247. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
248. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
249. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
250. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
251. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
252. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
253. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
254. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
255. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
256. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
257. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
258. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
259. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
260. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
261. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
262. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
263. 23858728 c.3860-8A>G splice site 0.00002471●●●●●●
264. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
265. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
266. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
267. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
268. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
269. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
270. 23858795 c.3859+7G>A splice site 0.00002471●●●●●●
271. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
272. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
273. 23858267 c.3979-3C>G splice site 0.00002364●●●●●●
274. 23872977 c.746T>C p.I249T missense 0.00002200●●●●●●
275. 23859655 c.3343G>A p.A1115T missense 0.00001810●●●●●●
276. 23855836 c.4651-4C>A splice site 0.00001696●●●●●●
277. 23872016 c.899-7G>T splice site 0.00001696●●●●●●
278. 23858227 c.4016G>A p.R1339Q missense 0.00001669●●●●●●
279. 23857138 c.4360-6G>A splice site 0.00001667●●●●●●
280. 23857131 c.4361T>A p.I1454N missense 0.00001665●●●●●●
281. 23857123 c.4369G>A p.E1457K missense 0.00001663●●●●●●
282. 23857105 c.4387G>A p.E1463K missense 0.00001660●●●●●●
283. 23857101 c.4391A>C p.E1464A missense 0.00001659●●●●●●
284. 23857102 c.4390G>T p.E1464X nonsense 0.00001659●●●●●●
285. 23865593 c.2329G>A p.E777K missense 0.00001656●●●●●●
286. 23865590 c.2332A>T p.M778L missense 0.00001655●●●●●●
287. 23857541 c.4182G>C p.K1394N missense 0.00001655●●●●●●
288. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
289. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
290. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
291. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
292. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
293. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
294. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
295. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
296. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
297. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
298. 23853930 c.5290-4A>G splice site 0.00001649●●●●●●
299. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
300. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
301. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
302. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
303. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
304. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
305. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
306. 23866754 c.1960C>A p.R654R splice site 0.00001649●●●●●●
307. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
308. 23871815 c.1003-4C>G splice site 0.00001649●●●●●●
309. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
310. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
311. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
312. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
313. 23873600 c.643-3T>C splice site 0.00001648●●●●●●
314. 23866197 c.2143A>G p.I715V missense 0.00001648●●●●●●
315. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
316. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
317. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
318. 23861870 c.3252-9_3252-5delCTCCT splice site 0.00001648●●●●●●
319. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
320. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
321. 23858928 c.3733G>A p.A1245T missense 0.00001648●●●●●●
322. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
323. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
324. 23857377 c.4346G>A p.R1449K missense 0.00001648●●●●●●
325. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
326. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
327. 23866254 c.2086C>T p.R696C missense 0.00001648●●●●●●
328. 23855277 c.5023A>G p.I1675V missense 0.00001648●●●●●●
329. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
330. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
331. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
332. 23856794 c.4594C>G p.R1532G missense 0.00001648●●●●●●
333. 23855264 c.5036G>A p.R1679H missense 0.00001648●●●●●●
334. 23858103 c.4140C>A p.D1380E missense 0.00001648●●●●●●
335. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
336. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
337. 23858906 c.3755G>A p.R1252Q missense 0.00001648●●●●●●
338. 23866185 c.2155G>A p.D719N missense 0.00001648●●●●●●
339. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
340. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
341. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
342. 23857405 c.4318G>T p.A1440S missense 0.00001648●●●●●●
343. 23866221 c.2119T>C p.C707R missense 0.00001648●●●●●●
344. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
345. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
346. 23858107 c.4136C>A p.T1379K missense 0.00001648●●●●●●
347. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
348. 23873506 c.734T>C p.F245S missense 0.00001647●●●●●●
349. 23857456 c.4267C>A p.L1423I missense 0.00001647●●●●●●
350. 23861839 c.3274C>G p.Q1092E missense 0.00001647●●●●●●
351. 23855629 c.4854G>C p.K1618N missense 0.00001647●●●●●●
352. 23866031 c.2169-5C>T splice site 0.00001647●●●●●●
353. 23870070 c.1258C>T p.Q420X nonsense 0.00001647●●●●●●
354. 23867953 c.1875C>A p.Y625X nonsense 0.00001647●●●●●●
355. 23858825 c.3836G>A p.R1279Q missense 0.00001647●●●●●●
356. 23851653 c.5780G>A p.R1927H missense 0.00001647●●●●●●
357. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
358. 23874969 c.212T>C p.V71A missense 0.00001647●●●●●●
359. 23862727 c.2929G>A p.V977M missense 0.00001647●●●●●●
360. 23867974 c.1854G>A p.M618I missense 0.00001647●●●●●●
361. 23855702 c.4781G>A p.R1594Q missense 0.00001647●●●●●●
362. 23868189 c.1639A>G p.M547V missense 0.00001647●●●●●●
363. 23851264 c.5805G>T p.M1935I missense 0.00001647●●●●●●
364. 23862961 c.2842G>A p.E948K missense 0.00001647●●●●●●
365. 23853866 c.5350A>G p.M1784V missense 0.00001647●●●●●●
366. 23862631 c.3025C>G p.L1009V missense 0.00001647●●●●●●
367. 23858657 c.3923T>G p.L1308R missense 0.00001647●●●●●●
368. 23874906 c.275T>C p.M92T missense 0.00001647●●●●●●
369. 23856871 c.4526-9G>C splice site 0.00001647●●●●●●
370. 23874513 c.421G>A p.A141T missense 0.00001647●●●●●●
371. 23873527 c.713G>A p.R238Q missense 0.00001647●●●●●●
372. 23866421 c.2008C>T p.H670Y missense 0.00001647●●●●●●
373. 23863086 c.2717G>T p.R906L missense 0.00001647●●●●●●
374. 23872591 c.864C>G p.Y288X nonsense 0.00001647●●●●●●
375. 23874948 c.233A>G p.Q78R missense 0.00001647●●●●●●
376. 23874507 c.427C>G p.R143G missense 0.00001647●●●●●●
377. 23869511 c.1535T>C p.I512T missense 0.00001647●●●●●●
378. 23858723 c.3860-3C>T splice site 0.00001647●●●●●●
379. 23863408 c.2554G>A p.A852T missense 0.00001647●●●●●●
380. 23863371 c.2591C>T p.T864M missense 0.00001647●●●●●●
381. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647●●●●●●
382. 23861824 c.3289G>A p.E1097K missense 0.00001647●●●●●●
383. 23851637 c.5796G>A splice site 0.00001647●●●●●●
384. 23851698 c.5735C>T p.A1912V missense 0.00001647●●●●●●
385. 23862635 c.3021G>T p.Q1007H missense 0.00001647●●●●●●
386. 23874977 c.204G>A splice site 0.00001647●●●●●●
387. 23874449 c.485A>G p.Y162C missense 0.00001647●●●●●●
388. 23873994 c.568C>T p.R190C missense 0.00001647●●●●●●
389. 23862181 c.3191C>T p.T1064I missense 0.00001647●●●●●●
390. 23862705 c.2951T>C p.M984T missense 0.00001647●●●●●●
391. 23865922 c.2273A>G p.Y758C missense 0.00001647●●●●●●
392. 23863087 c.2716C>A p.R906S missense 0.00001647●●●●●●
393. 23857437 c.4286A>T p.D1429V missense 0.00001647●●●●●●
394. 23863065 c.2738A>G p.N913S missense 0.00001647●●●●●●
395. 23873564 c.676C>T p.P226S missense 0.00001647●●●●●●
396. 23866021 c.2174G>T p.R725L missense 0.00001647●●●●●●
397. 23870079 c.1249A>G p.S417G missense 0.00001647●●●●●●
398. 23862875 c.2928G>A splice site 0.00001647●●●●●●
399. 23862218 c.3154C>T p.R1052X nonsense 0.00001647●●●●●●
400. 23874515 c.419C>A p.A140D missense 0.00001647●●●●●●
401. 23851639 c.5794A>T p.K1932X nonsense 0.00001647●●●●●●
402. 23873549 c.691T>C p.F231L missense 0.00001647●●●●●●
403. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647●●●●●●
404. 23863032 c.2771T>C p.M924T missense 0.00001647●●●●●●
405. 23870003 c.1325C>T p.T442M missense 0.00001647●●●●●●
406. 23859466 c.3532C>T p.R1178W missense 0.00001324●●●●●●
407. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324●●●●●●
408. 23872994 c.736-7T>A splice site 0.00001182●●●●●●
409. 23858266 c.3979-2A>C essential splice site 0.00001129●●●●●●
410. 23858271 c.3979-7_3979-3delTCCCC splice site 0.00001129●●●●●●
411. 23858271 c.3979-7_3979-6delTC splice site 0.00001126●●●●●●
412. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106●●●●●●
413. 23872978 c.745A>G p.I249V missense 0.00001103●●●●●●
414. 23872933 c.790A>T p.I264L missense 0.00001041●●●●●●
415. 23872938 c.785C>T p.A262V missense 0.00001038●●●●●●
416. 23859610 c.3388G>T p.A1130S missense 0.00000945●●●●●●
417. 23858254 c.3989C>T p.A1330V missense 0.00000873●●●●●●
418. 23858246 c.3997C>A p.H1333N missense 0.00000848●●●●●●
419. 23855836 c.4651-4C>T splice site 0.00000848●●●●●●
420. 23865634 c.2293-5T>A splice site 0.00000846●●●●●●
421. 23858245 c.3998A>G p.H1333R missense 0.00000845●●●●●●
422. 23865634 c.2293-5_2293-4insAG splice site 0.00000845●●●●●●
423. 23855833 c.4651-1G>A essential splice site 0.00000845●●●●●●
424. 23865632 c.2293-3_2293-2delCA essential splice site 0.00000842●●●●●●
425. 23855818 c.4665C>A p.H1555Q missense 0.00000840●●●●●●
426. 23857558 c.4176-11C>T splice site 0.00000838●●●●●●
427. 23855814 c.4669G>A p.E1557K missense 0.00000838●●●●●●
428. 23858233 c.4010C>T p.S1337L missense 0.00000838●●●●●●
429. 23855811 c.4672G>A p.G1558S missense 0.00000837●●●●●●
430. 23871997 c.911T>C p.V304A missense 0.00000835●●●●●●
431. 23857557 c.4176-10A>C splice site 0.00000835●●●●●●
432. 23855807 c.4676A>G p.K1559R missense 0.00000834●●●●●●
433. 23858222 c.4021G>T p.D1341Y missense 0.00000833●●●●●●
434. 23857553 c.4176-6G>T splice site 0.00000833●●●●●●
435. 23855802 c.4681C>T p.L1561F missense 0.00000833●●●●●●
436. 23855798 c.4685G>A p.R1562Q missense 0.00000832●●●●●●
437. 23855798 c.4685G>T p.R1562L missense 0.00000832●●●●●●
438. 23855799 c.4684C>T p.R1562W missense 0.00000832●●●●●●
439. 23855796 c.4687G>A p.A1563T missense 0.00000831●●●●●●
440. 23871980 c.928G>A p.D310N missense 0.00000830●●●●●●
441. 23855133 c.5163+4A>C splice site 0.00000830●●●●●●
442. 23857098 c.4394C>T p.S1465L missense 0.00000829●●●●●●
443. 23857095 c.4397A>G p.Q1466R missense 0.00000829●●●●●●
444. 23859357 c.3641G>A p.R1214Q missense 0.00000829●●●●●●
445. 23855785 c.4698G>C p.E1566D missense 0.00000829●●●●●●
446. 23857096 c.4396C>G p.Q1466E missense 0.00000829●●●●●●
447. 23871974 c.934G>A p.A312T missense 0.00000829●●●●●●
448. 23871971 c.937T>G p.F313V missense 0.00000828●●●●●●
449. 23855144 c.5156A>G p.H1719R missense 0.00000828●●●●●●
450. 23855783 c.4700T>G p.F1567C missense 0.00000828●●●●●●
451. 23869635 c.1411T>C p.F471L missense 0.00000828●●●●●●
452. 23852509 c.5586C>G p.N1862K missense 0.00000828●●●●●●
453. 23857068 c.4424A>G p.E1475G missense 0.00000827●●●●●●
454. 23865587 c.2335C>T p.R779W missense 0.00000827●●●●●●
455. 23858198 c.4045T>A p.Y1349N missense 0.00000827●●●●●●
456. 23870178 c.1150A>G p.K384E missense 0.00000827●●●●●●
457. 23858198 c.4045T>G p.Y1349D missense 0.00000827●●●●●●
458. 23855153 c.5147A>G p.Q1716R missense 0.00000827●●●●●●
459. 23853646 c.5565+5G>T splice site 0.00000826●●●●●●
460. 23853641 c.5565+10A>G splice site 0.00000826●●●●●●
461. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826●●●●●●
462. 23871900 c.1002+6T>C splice site 0.00000826●●●●●●
463. 23871943 c.965C>G p.A322G missense 0.00000826●●●●●●
464. 0 c.-13-7G>T splice site 0.00000826●●●●●●
465. 23853647 c.5565+4C>T splice site 0.00000826●●●●●●
466. 23871914 c.994G>A p.A332T missense 0.00000826●●●●●●
467. 23853646 c.5565+5G>C splice site 0.00000826●●●●●●
468. 23853649 c.5565+2T>A essential splice site 0.00000826●●●●●●
469. 23874836 c.345T>C splice site 0.00000826●●●●●●
470. 23865568 c.2354G>A p.R785H missense 0.00000826●●●●●●
471. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826●●●●●●
472. 23855160 c.5140C>T p.R1714W missense 0.00000826●●●●●●
473. 23871905 c.1002+1G>A essential splice site 0.00000826●●●●●●
474. 23853644 c.5565+7C>T splice site 0.00000826●●●●●●
475. 23865584 c.2338G>A p.D780N missense 0.00000826●●●●●●
476. 23853656 c.5560T>C p.Y1854H missense 0.00000826●●●●●●
477. 23863514 c.2448C>G p.I816M missense 0.00000826●●●●●●
478. 23855346 c.4960-6G>C splice site 0.00000826●●●●●●
479. 23871900 c.1002+6T>G splice site 0.00000826●●●●●●
480. 23855340 c.4960G>A p.D1654N missense 0.00000826●●●●●●
481. 23857065 c.4427C>T p.A1476V missense 0.00000826●●●●●●
482. 23855762 c.4721T>A p.I1574N missense 0.00000825●●●●●●
483. 23876445 c.-13G>A splice site 0.00000825●●●●●●
484. 23871667 c.1141+6A>T splice site 0.00000825●●●●●●
485. 23865565 c.2357T>G p.I786S missense 0.00000825●●●●●●
486. 23857045 c.4447C>T p.L1483F missense 0.00000825●●●●●●
487. 23865551 c.2371C>G p.Q791E missense 0.00000825●●●●●●
488. 23855174 c.5126T>C p.I1709T missense 0.00000825●●●●●●
489. 23866806 c.1908C>A p.S636R missense 0.00000825●●●●●●
490. 23874036 c.531-5C>T splice site 0.00000825●●●●●●
491. 23873920 c.642G>T p.K214N missense 0.00000825●●●●●●
492. 23857046 c.4446G>C p.E1482D missense 0.00000825●●●●●●
493. 23855319 c.4981G>A p.D1661N missense 0.00000825●●●●●●
494. 23855201 c.5099C>A p.S1700Y missense 0.00000825●●●●●●
495. 23853682 c.5534G>T p.S1845I missense 0.00000825●●●●●●
496. 23865565 c.2357T>A p.I786N missense 0.00000825●●●●●●
497. 23874838 c.343T>C p.Y115H missense 0.00000825●●●●●●
498. 23858173 c.4070C>T p.A1357V missense 0.00000825●●●●●●
499. 23855189 c.5111C>T p.A1704V missense 0.00000825●●●●●●
500. 23857051 c.4441A>T p.T1481S missense 0.00000825●●●●●●
501. 23876232 c.201G>A splice site 0.00000825●●●●●●
502. 0 c.-13-1G>C essential splice site 0.00000825●●●●●●
503. 23874842 c.339G>A p.M113I missense 0.00000825●●●●●●
504. 23865559 c.2363C>G p.T788R missense 0.00000825●●●●●●
505. 23866793 c.1921A>C p.K641Q missense 0.00000825●●●●●●
506. 23873917 c.642+3G>C splice site 0.00000825●●●●●●
507. 23871932 c.976G>T p.D326Y missense 0.00000825●●●●●●
508. 23874842 c.339G>T p.M113I missense 0.00000825●●●●●●
509. 23876444 c.-12G>A splice site 0.00000825●●●●●●
510. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
511. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
512. 23869539 c.1507A>G p.K503E missense 0.00000824●●●●●●
513. 23855691 c.4792T>C p.S1598P missense 0.00000824●●●●●●
514. 23853895 c.5321A>G p.E1774G missense 0.00000824●●●●●●
515. 23851680 c.5753A>T p.Q1918L missense 0.00000824●●●●●●
516. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
517. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
518. 23866275 c.2065C>A p.P689T missense 0.00000824●●●●●●
519. 23863304 c.2658G>C p.K886N missense 0.00000824●●●●●●
520. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
521. 23863093 c.2710G>T p.E904X nonsense 0.00000824●●●●●●
522. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
523. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
524. 23868101 c.1727C>T p.A576V missense 0.00000824●●●●●●
525. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
526. 23862956 c.2847C>A p.C949X nonsense 0.00000824●●●●●●
527. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
528. 23857371 c.4352T>C p.F1451S missense 0.00000824●●●●●●
529. 23851777 c.5662-6C>A splice site 0.00000824●●●●●●
530. 23851629 c.5796+8C>G splice site 0.00000824●●●●●●
531. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
532. 23855576 c.4907G>A p.R1636H missense 0.00000824●●●●●●
533. 23853824 c.5392C>T p.R1798W missense 0.00000824●●●●●●
534. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
535. 23862588 c.3068C>T p.S1023F missense 0.00000824●●●●●●
536. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
537. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
538. 23856974 c.4518C>G p.N1506K missense 0.00000824●●●●●●
539. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
540. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
541. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
542. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
543. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
544. 23856869 c.4526-7T>G splice site 0.00000824●●●●●●
545. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
546. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
547. 23863434 c.2528A>G p.K843R missense 0.00000824●●●●●●
548. 23862221 c.3151G>A p.E1051K missense 0.00000824●●●●●●
549. 23856767 c.4621G>C p.E1541Q missense 0.00000824●●●●●●
550. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
551. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
552. 23866417 c.2012T>G p.F671C missense 0.00000824●●●●●●
553. 23863377 c.2585A>G p.K862R missense 0.00000824●●●●●●
554. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
555. 23874984 c.202-5T>A splice site 0.00000824●●●●●●
556. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
557. 23874427 c.502+5G>A splice site 0.00000824●●●●●●
558. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
559. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
560. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
561. 23854154 c.5260G>T p.E1754X nonsense 0.00000824●●●●●●
562. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
563. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
564. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
565. 23857410 c.4313A>T p.N1438I missense 0.00000824●●●●●●
566. 23855660 c.4823G>A p.R1608H missense 0.00000824●●●●●●
567. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
568. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
569. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
570. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
571. 23858678 c.3902C>T p.S1301L missense 0.00000824●●●●●●
572. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
573. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
574. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
575. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
576. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
577. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
578. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
579. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
580. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
581. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
582. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
583. 23863121 c.2686-4C>T splice site 0.00000824●●●●●●
584. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
585. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
586. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
587. 23867996 c.1832A>T p.Q611L missense 0.00000824●●●●●●
588. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
589. 23857360 c.4359+4G>T splice site 0.00000824●●●●●●
590. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
591. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824●●●●●●
592. 23862565 c.3091C>A p.Q1031K missense 0.00000824●●●●●●
593. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
594. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
595. 23866762 c.1952C>T p.A651V missense 0.00000824●●●●●●
596. 23863395 c.2567A>G p.E856G missense 0.00000824●●●●●●
597. 23862209 c.3163C>T p.R1055W missense 0.00000824●●●●●●
598. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
599. 23862169 c.3203T>C p.I1068T missense 0.00000824●●●●●●
600. 23858140 c.4103C>T p.S1368L missense 0.00000824●●●●●●
601. 23856866 c.4526-4C>T splice site 0.00000824●●●●●●
602. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
603. 23874488 c.446A>T p.E149V missense 0.00000824●●●●●●
604. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
605. 23856967 c.4525G>T p.E1509X nonsense 0.00000824●●●●●●
606. 23854254 c.5164-4C>G splice site 0.00000824●●●●●●
607. 23857468 c.4255A>C p.T1419P missense 0.00000824●●●●●●
608. 23855740 c.4743G>T p.K1581N missense 0.00000824●●●●●●
609. 23854147 c.5267A>G p.K1756R missense 0.00000824●●●●●●
610. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
611. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
612. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
613. 23863333 c.2629G>A p.E877K missense 0.00000824●●●●●●
614. 23866032 c.2169-6C>T splice site 0.00000824●●●●●●
615. 23851633 c.5796+4G>A splice site 0.00000824●●●●●●
616. 23876258 c.175G>A p.V59I missense 0.00000824●●●●●●
617. 23872617 c.838G>T p.A280S missense 0.00000824●●●●●●
618. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
619. 23862928 c.2875C>G p.L959V missense 0.00000824●●●●●●
620. 23872568 c.887C>T p.P296L missense 0.00000824●●●●●●
621. 23868166 c.1662C>A p.Y554X nonsense 0.00000824●●●●●●
622. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
623. 23862176 c.3196G>A p.E1066K missense 0.00000824●●●●●●
624. 23871669 c.1141+4G>T splice site 0.00000824●●●●●●
625. 23852431 c.5661+3G>A splice site 0.00000824●●●●●●
626. 23858847 c.3814C>T p.L1272F missense 0.00000824●●●●●●
627. 23855647 c.4836G>C p.E1612D missense 0.00000824●●●●●●
628. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
629. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
630. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
631. 23865486 c.2429+7C>T splice site 0.00000824●●●●●●
632. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
633. 23863271 c.2685+6G>A splice site 0.00000824●●●●●●
634. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
635. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
636. 23863127 c.2686-10C>T splice site 0.00000824●●●●●●
637. 23858597 c.3978+5G>C splice site 0.00000824●●●●●●
638. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
639. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
640. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
641. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
642. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
643. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
644. 23862676 c.2980C>A p.L994M missense 0.00000824●●●●●●
645. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
646. 23865521 c.2401A>T p.I801F missense 0.00000824●●●●●●
647. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
648. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
649. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
650. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
651. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
652. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
653. 23874985 c.202-6C>T splice site 0.00000824●●●●●●
654. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
655. 23861826 c.3287T>C p.I1096T missense 0.00000824●●●●●●
656. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
657. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
658. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
659. 23863105 c.2698C>A p.L900I missense 0.00000824●●●●●●
660. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
661. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
662. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
663. 23872663 c.800-8C>A splice site 0.00000824●●●●●●
664. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
665. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
666. 23857428 c.4295T>A p.V1432E missense 0.00000824●●●●●●
667. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
668. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
669. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
670. 23855661 c.4822C>G p.R1608G missense 0.00000824●●●●●●
671. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
672. 23866004 c.2191G>T p.A731S missense 0.00000824●●●●●●
673. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
674. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
675. 23858803 c.3858T>A p.N1286K missense 0.00000824●●●●●●
676. 23865900 c.2292+3G>C splice site 0.00000824●●●●●●
677. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
678. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
679. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
680. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
681. 23874426 c.502+6C>A splice site 0.00000824●●●●●●
682. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
683. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
684. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
685. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
686. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
687. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
688. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
689. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
690. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
691. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
692. 23862272 c.3106-6C>T splice site 0.00000824●●●●●●
693. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
694. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
695. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
696. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
697. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
698. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
699. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
700. 23863341 c.2621A>T p.E874V missense 0.00000824●●●●●●
701. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
702. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
703. 23854257 c.5164-7T>C splice site 0.00000824●●●●●●
704. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
705. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
706. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
707. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
708. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
709. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
710. 23858852 c.3809G>A p.R1270H missense 0.00000824●●●●●●
711. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
712. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
713. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
714. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
715. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
716. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
717. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
718. 23858859 c.3802G>A p.A1268T missense 0.00000824●●●●●●
719. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
720. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
721. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
722. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
723. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
724. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
725. 23865904 c.2291A>C p.K764T missense 0.00000824●●●●●●
726. 23862682 c.2974G>A p.A992T missense 0.00000824●●●●●●
727. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
728. 23862730 c.2929-3C>T splice site 0.00000824●●●●●●
729. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
730. 23863271 c.2685+6G>T splice site 0.00000824●●●●●●
731. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
732. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
733. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
734. 23862551 c.3105T>G p.D1035E missense 0.00000824●●●●●●
735. 23862233 c.3139C>T p.R1047C missense 0.00000824●●●●●●
736. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
737. 23857353 c.4359+11G>A splice site 0.00000824●●●●●●
738. 23861826 c.3287T>A p.I1096N missense 0.00000824●●●●●●
739. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
740. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
741. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
742. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
743. 23866753 c.1961G>A p.R654Q missense 0.00000824●●●●●●
744. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
745. 23863373 c.2589G>C p.E863D missense 0.00000824●●●●●●
746. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
747. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
748. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
749. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
750. 23866271 c.2069T>A p.L690Q missense 0.00000824●●●●●●
751. 23863299 c.2663A>G p.D888G missense 0.00000824●●●●●●
752. 23856786 c.4602G>C p.Q1534H missense 0.00000824●●●●●●
753. 23855720 c.4763C>A p.A1588D missense 0.00000824●●●●●●
754. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
755. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
756. 23867932 c.1891+5G>A splice site 0.00000824●●●●●●
757. 23862940 c.2863G>C p.D955H missense 0.00000824●●●●●●
758. 23858804 c.3857A>T p.N1286I missense 0.00000824●●●●●●
759. 23855629 c.4854G>T p.K1618N missense 0.00000824●●●●●●
760. 23865900 c.2292+3G>A splice site 0.00000824●●●●●●
761. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
762. 23853823 c.5393G>A p.R1798Q missense 0.00000824●●●●●●
763. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
764. 23868090 c.1738C>A p.L580M missense 0.00000824●●●●●●
765. 23862579 c.3077A>C p.K1026T missense 0.00000824●●●●●●
766. 23857027 c.4465G>A p.A1489T missense 0.00000824●●●●●●
767. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
768. 23856974 c.4518C>A p.N1506K missense 0.00000824●●●●●●
769. 23855286 c.5014A>T p.N1672Y missense 0.00000824●●●●●●
770. 23858800 c.3859+2T>G essential splice site 0.00000824●●●●●●
771. 23867997 c.1831C>T p.Q611X nonsense 0.00000824●●●●●●
772. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
773. 23862546 c.3105+5G>C splice site 0.00000824●●●●●●
774. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
775. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
776. 23867952 c.1876G>A p.A626T missense 0.00000824●●●●●●
777. 23863474 c.2488C>T p.P830S missense 0.00000824●●●●●●
778. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
779. 23856764 c.4624C>A p.L1542M missense 0.00000824●●●●●●
780. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
781. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
782. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
783. 23866287 c.2053G>A p.V685M missense 0.00000824●●●●●●
784. 23863342 c.2620G>T p.E874X nonsense 0.00000824●●●●●●
785. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
786. 23874424 c.502+8T>A splice site 0.00000824●●●●●●
787. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
788. 23857516 c.4207G>T p.E1403X nonsense 0.00000824●●●●●●
789. 23855757 c.4726C>T p.R1576W missense 0.00000824●●●●●●
790. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
791. 23857405 c.4318G>C p.A1440P missense 0.00000824●●●●●●
792. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
793. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
794. 23866402 c.2027T>A p.I676N missense 0.00000824●●●●●●
795. 23858874 c.3787G>T p.V1263L missense 0.00000824●●●●●●
796. 23857417 c.4306C>A p.R1436S missense 0.00000824●●●●●●
797. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
798. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
799. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
800. 23853872 c.5344G>C p.E1782Q missense 0.00000824●●●●●●
801. 23851653 c.5780G>T p.R1927L missense 0.00000824●●●●●●
802. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
803. 23852429 c.5661+5G>C splice site 0.00000824●●●●●●
804. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
805. 23868212 c.1616G>A p.C539Y missense 0.00000824●●●●●●
806. 23853865 c.5351T>A p.M1784K missense 0.00000824●●●●●●
807. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
808. 23868178 c.1650G>C p.K550N missense 0.00000824●●●●●●
809. 23863075 c.2728C>A p.L910M missense 0.00000824●●●●●●
810. 23853809 c.5407G>C p.E1803Q missense 0.00000824●●●●●●
811. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
812. 23868044 c.1784T>A p.L595Q missense 0.00000824●●●●●●
813. 23853762 c.5454A>T p.E1818D missense 0.00000824●●●●●●
814. 23865893 c.2292+10G>C splice site 0.00000824●●●●●●
815. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
816. 23865916 c.2279T>C p.F760S missense 0.00000824●●●●●●
817. 23862711 c.2945A>G p.E982G missense 0.00000824●●●●●●
818. 23858720 c.3860G>A p.G1287E missense 0.00000824●●●●●●
819. 23862867 c.2928+8C>A splice site 0.00000824●●●●●●
820. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
821. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
822. 23853694 c.5522G>A p.G1841D missense 0.00000824●●●●●●
823. 23865524 c.2398C>A p.R800S missense 0.00000824●●●●●●
824. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
825. 23855633 c.4850A>C p.K1617T missense 0.00000824●●●●●●
826. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
827. 23862235 c.3137T>C p.V1046A missense 0.00000824●●●●●●
828. 23856799 c.4589A>T p.K1530M missense 0.00000824●●●●●●
829. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
830. 23858600 c.3978+2T>C essential splice site 0.00000824●●●●●●
831. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
832. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
833. 23867988 c.1840T>G p.S614A missense 0.00000824●●●●●●
834. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
835. 23862152 c.3220G>T p.D1074Y missense 0.00000824●●●●●●
836. 23869464 c.1581+1G>A essential splice site 0.00000824●●●●●●
837. 23856732 c.4650+6G>A splice site 0.00000824●●●●●●
838. 23854231 c.5183A>G p.Q1728R missense 0.00000824●●●●●●
839. 23852450 c.5645G>T p.R1882L missense 0.00000824●●●●●●
840. 23873937 c.625A>G p.N209D missense 0.00000824●●●●●●
841. 23866754 c.1960C>T p.R654W missense 0.00000824●●●●●●
842. 23863392 c.2570A>G p.E857G 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.