ABCC9 variants in ExAC

ABCC9 gene summary
ABCC9 variants in DCM

The table below lists the ABCC9 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. 22089608 c.1delA p.Met1? frameshift 0.00000830●●●●●●
2. 22089583 c.26A>G p.N9S missense 0.00000828●●●●●●
3. 22089572 c.37T>C p.Y13H missense 0.00000828●●●●●●
4. 22089562 c.47A>G p.N16S missense 0.00000828●●●●●●
5. 22089560 c.49G>A p.D17N missense 0.00002484●●●●●●
6. 22089533 c.76G>A p.V26M missense 0.00000830●●●●●●
7. 22089532 c.77T>C p.V26A missense 0.00000830●●●●●●
8. 22089521 c.88A>G p.N30D missense 0.00000832●●●●●●
9. 22089507 c.102T>A p.H34Q missense 0.00000837●●●●●●
10. 22089465 c.142+2T>C essential splice site 0.00000902●●●●●●
11. 22089457 c.142+10C>A splice site 0.00003714●●●●●●
12. 22086866 c.143-9_143-8delCT splice site 0.00001650●●●●●●
13. 22086863 c.143-6T>C splice site 0.00000825●●●●●●
14. 22086862 c.143-5T>C splice site 0.00000825●●●●●●
15. 22086831 c.169C>T p.Q57X nonsense 0.00000824●●●●●●
16. 22086828 c.172dupA p.Ile58AsnfsTer13 frameshift 0.00000824●●●●●●
17. 22086800 c.200C>T p.P67L missense 0.00000824●●●●●●
18. 22086797 c.203G>A p.G68E missense 0.00000824●●●●●●
19. 22086785 c.215G>A p.R72K missense 0.00004121●●●●●●
20. 22086744 c.256G>C p.E86Q missense 0.00001649●●●●●●
21. 22086716 c.284C>T p.S95L missense 0.00000825●●●●●●
22. 22086715 c.284+1G>A essential splice site 0.00002475●●●●●●
23. 22078996 c.286C>T p.R96W missense 0.00000824●●●●●●
24. 22078995 c.287G>A p.R96Q missense 0.00003295●●●●●●
25. 22078993 c.289C>T p.R97W missense 0.00001647●●●●●●
26. 22078977 c.305T>C p.L102P missense 0.00009061●●●●●●
27. 22078957 c.325G>A p.V109M missense 0.00001647●●●●●●
28. 22078953 c.329T>A p.M110K missense 0.00000824●●●●●●
29. 22078945 c.337G>A p.V113I missense 0.00004942●●●●●●
30. 22078939 c.343A>G p.T115A missense 0.00000824●●●●●●
31. 22078927 c.355A>G p.I119V missense 0.00000824●●●●●●
32. 22078911 c.371A>G p.N124S missense 0.00000824●●●●●●
33. 22078891 c.391C>T p.P131S missense 0.00000824●●●●●●
34. 22070040 c.407-3C>T splice site 0.00000826●●●●●●
35. 22070015 c.429G>A p.M143I missense 0.00000824●●●●●●
36. 22070007 c.437T>A p.I146N missense 0.00002472●●●●●●
37. 22069987 c.457G>A p.V153I missense 0.00002472●●●●●●
38. 22069947 c.497G>A p.R166H missense 0.00003296●●●●●●
39. 22069925 c.519G>T p.M173I missense 0.00000824●●●●●●
40. 22069879 c.565C>T p.R189X nonsense 0.00013234●●●●●●
41. 22069869 c.573+2T>G essential splice site 0.00000832●●●●●●
42. 22068849 c.574-5C>A splice site 0.61380125●●●●●●
43. 22068843 c.575G>A p.R192K missense 0.00000837●●●●●●
44. 22068842 c.576A>T p.R192S missense 0.00000836●●●●●●
45. 22068838 c.580G>A p.V194I missense 0.00000835●●●●●●
46. 22068798 c.620A>G p.D207G missense 0.00000828●●●●●●
47. 22068735 c.683A>C p.Y228S missense 0.00000825●●●●●●
48. 22068690 c.728T>C p.I243T missense 0.00000824●●●●●●
49. 22068684 c.734T>C p.L245P missense 0.00000824●●●●●●
50. 22068675 c.743T>C p.I248T missense 0.00001649●●●●●●
51. 22068654 c.764T>C p.M255T missense 0.00000824●●●●●●
52. 22068624 c.794A>G p.K265R missense 0.00000824●●●●●●
53. 22068609 c.809A>C p.E270A missense 0.00000824●●●●●●
54. 22068594 c.816+8A>G splice site 0.00004122●●●●●●
55. 22068591 c.816+11G>A splice site 0.00013191●●●●●●
56. 22066009 c.817-9_817-8insT splice site 0.01477273●●●●●●
57. 22066008 c.817-8T>G splice site 0.00000881●●●●●●
58. 22066008 c.817-8_817-6delTTCinsTC splice site 0.01615801●●●●●●
59. 22066006 c.817-6C>T splice site 0.00032468●●●●●●
60. 22065997 c.820A>G p.K274E missense 0.00000831●●●●●●
61. 22065991 c.826G>A p.A276T missense 0.00000828●●●●●●
62. 22065976 c.841C>T p.R281W missense 0.00000826●●●●●●
63. 22065975 c.842G>A p.R281Q missense 0.00002479●●●●●●
64. 22065964 c.853A>G p.I285V missense 0.00000826●●●●●●
65. 22065964 c.853A>T p.I285L missense 0.00000826●●●●●●
66. 22065950 c.867G>A p.M289I missense 0.00000826●●●●●●
67. 22065948 c.869A>T p.Y290F missense 0.00001651●●●●●●
68. 22065933 c.884G>A p.R295Q missense 0.00000825●●●●●●
69. 22065910 c.907T>C p.F303L missense 0.00000825●●●●●●
70. 22065906 c.911G>A p.R304H missense 0.00000825●●●●●●
71. 22065880 c.937G>A p.A313T missense 0.00000825●●●●●●
72. 22065869 c.948_949delTT p.Cys317TyrfsTer10 frameshift 0.00000825●●●●●●
73. 22065847 c.970C>T p.R324C missense 0.00000826●●●●●●
74. 22065819 c.998A>T p.N333I missense 0.00000826●●●●●●
75. 22065800 c.1011+6T>C splice site 0.00000827●●●●●●
76. 22065798 c.1011+8C>T splice site 0.00000827●●●●●●
77. 22063919 c.1012-7G>A splice site 0.00000831●●●●●●
78. 22063917 c.1012-5A>G splice site 0.00000830●●●●●●
79. 22063911 c.1013T>C p.I338T missense 0.00000829●●●●●●
80. 22063873 c.1051G>T p.A351S missense 0.00001654●●●●●●
81. 22063861 c.1063G>T p.A355S missense 0.00003305●●●●●●
82. 22063842 c.1082C>G p.A361G missense 0.00003303●●●●●●
83. 22063812 c.1112C>G p.A371G missense 0.00000825●●●●●●
84. 22063805 c.1119C>G p.Y373X nonsense 0.00000825●●●●●●
85. 22063797 c.1127C>T p.T376I missense 0.00000825●●●●●●
86. 22063795 c.1129A>G p.I377V missense 0.00006599●●●●●●
87. 22063794 c.1130T>C p.I377T missense 0.00000825●●●●●●
88. 22063782 c.1142T>A p.I381N missense 0.00000825●●●●●●
89. 22063777 c.1147C>T p.L383F missense 0.00000825●●●●●●
90. 22063774 c.1150C>T p.R384C missense 0.00000825●●●●●●
91. 22063773 c.1151G>A p.R384H missense 0.00002474●●●●●●
92. 22063749 c.1164+11A>G splice site 0.99692533●●●●●●
93. 22063159 c.1252G>A p.A418T missense 0.00001651●●●●●●
94. 22063158 c.1253C>T p.A418V missense 0.00000825●●●●●●
95. 22063138 c.1273_1274delAT p.Met425ValfsTer8 frameshift 0.00000825●●●●●●
96. 22063137 c.1274T>C p.M425T missense 0.00000825●●●●●●
97. 22063133 c.1278G>T p.W426C missense 0.00000825●●●●●●
98. 22063116 c.1295C>A p.P432H missense 0.00000825●●●●●●
99. 22063105 c.1306G>A p.A436T missense 0.00002484●●●●●●
100. 22063099 c.1312C>A p.P438T missense 0.00000829●●●●●●
101. 22063091 c.1320G>C p.Q440H missense 0.00000830●●●●●●
102. 22063090 c.1320+1G>A essential splice site 0.00005814●●●●●●
103. 22063086 c.1320+5G>T splice site 0.00003326●●●●●●
104. 22061151 c.1321-6C>T splice site 0.00000837●●●●●●
105. 22061144 c.1322T>A p.I441N missense 0.00000836●●●●●●
106. 22061143 c.1323C>G p.I441M missense 0.00000836●●●●●●
107. 22061137 c.1329G>A p.M443I missense 0.00003342●●●●●●
108. 22061102 c.1364G>C p.S455T missense 0.00000833●●●●●●
109. 22061070 c.1396C>T p.L466F missense 0.00000835●●●●●●
110. 22061066 c.1400C>T p.A467V missense 0.00001671●●●●●●
111. 22061015 c.1451C>T p.T484I missense 0.00000850●●●●●●
112. 22061007 c.1455+4A>C splice site 0.00006877●●●●●●
113. 22059225 c.1456-3T>C splice site 0.00001214●●●●●●
114. 22059149 c.1529G>A p.W510X nonsense 0.00000836●●●●●●
115. 22059075 c.1603T>C p.Y535H missense 0.00003303●●●●●●
116. 22059069 c.1609T>A p.S537T missense 0.00000826●●●●●●
117. 22059054 c.1618+6T>C splice site 0.00002478●●●●●●
118. 22048256 c.1619-7T>C splice site 0.00001662●●●●●●
119. 22048252 c.1619-3_1619-2delCA essential splice site 0.00002494●●●●●●
120. 22048210 c.1658dupC p.Thr554TyrfsTer54 frameshift 0.00000832●●●●●●
121. 22048201 c.1659+8A>C splice site 0.00000832●●●●●●
122. 22048199 c.1659+10T>C splice site 0.00004994●●●●●●
123. 22047092 c.1676C>T p.A559V missense 0.00000825●●●●●●
124. 22040873 c.1803-5dupT splice site 0.00008302●●●●●●
125. 22040868 c.1803T>C splice site 0.00001660●●●●●●
126. 22040854 c.1817A>C p.N606T missense 0.00001658●●●●●●
127. 22040854 c.1817A>G p.N606S missense 0.00000829●●●●●●
128. 22040843 c.1828_1829delTT p.Leu610GlufsTer2 frameshift 0.00000829●●●●●●
129. 22040822 c.1849G>A p.D617N missense 0.00001656●●●●●●
130. 22040812 c.1859G>A p.R620Q missense 0.00003311●●●●●●
131. 22040797 c.1874C>T p.S625L missense 0.00001655●●●●●●
132. 22040792 c.1879C>G p.P627A missense 0.00000828●●●●●●
133. 22040784 c.1887G>T p.E629D missense 0.00014898●●●●●●
134. 22040762 c.1909G>A p.V637I missense 0.00006625●●●●●●
135. 22035798 c.1921A>G p.T641A missense 0.00001649●●●●●●
136. 22035793 c.1926A>G p.I642M missense 0.00000824●●●●●●
137. 22035792 c.1927A>C p.N643H missense 0.00004123●●●●●●
138. 22035780 c.1939C>G p.P647A missense 0.00000824●●●●●●
139. 22035780 c.1939C>T p.P647S missense 0.00000824●●●●●●
140. 22035777 c.1942G>A p.G648R missense 0.00000824●●●●●●
141. 22035777 c.1942G>C p.G648R missense 0.00001649●●●●●●
142. 22035776 c.1943G>A p.G648E missense 0.00001649●●●●●●
143. 22035771 c.1948T>C p.Y650H missense 0.00000824●●●●●●
144. 22035764 c.1955T>G p.L652R missense 0.00000824●●●●●●
145. 22035747 c.1972T>C p.S658P missense 0.00000824●●●●●●
146. 22035741 c.1978C>T p.R660W missense 0.00001649●●●●●●
147. 22035740 c.1979G>A p.R660Q missense 0.00005770●●●●●●
148. 22035738 c.1981C>T p.R661C missense 0.00004121●●●●●●
149. 22035737 c.1982G>A p.R661H missense 0.00001649●●●●●●
150. 22035732 c.1987C>T p.R663C missense 0.00007419●●●●●●
151. 22035731 c.1988G>A p.R663H missense 0.00020609●●●●●●
152. 22035726 c.1993G>A p.A665T missense 0.00006595●●●●●●
153. 22035719 c.2000C>T p.T667I missense 0.00002473●●●●●●
154. 22035717 c.2002G>A p.E668K missense 0.00000825●●●●●●
155. 22035714 c.2005G>A p.D669N missense 0.00000825●●●●●●
156. 22035714 c.2005G>C p.D669H missense 0.00000825●●●●●●
157. 22035697 c.2019+3T>A splice site 0.00000826●●●●●●
158. 22035697 c.2019+3T>C splice site 0.00000826●●●●●●
159. 22035695 c.2019+5T>C splice site 0.00000826●●●●●●
160. 22028664 c.2020-4G>A splice site 0.00000840●●●●●●
161. 22028650 c.2030G>T p.G677V missense 0.00000836●●●●●●
162. 22028635 c.2045G>A p.G682D missense 0.00000833●●●●●●
163. 22028630 c.2050G>A p.G684S missense 0.00097438●●●●●●
164. 22028608 c.2072T>C p.I691T missense 0.00000831●●●●●●
165. 22028599 c.2081G>A p.R694Q missense 0.00017446●●●●●●
166. 22028594 c.2086C>T p.P696S missense 0.00005814●●●●●●
167. 22028590 c.2090C>G p.T697R missense 0.00000831●●●●●●
168. 22028583 c.2092+5G>T splice site 0.00002493●●●●●●
169. 22025671 c.2093-7T>C splice site 0.00246309●●●●●●
170. 22025668 c.2093-4C>T splice site 0.00000824●●●●●●
171. 22025655 c.2102C>A p.T701N missense 0.00000824●●●●●●
172. 22025653 c.2104delA p.Met702Ter frameshift 0.00000824●●●●●●
173. 22025602 c.2155C>T p.L719F missense 0.00001647●●●●●●
174. 22025599 c.2158G>A p.G720S missense 0.00002471●●●●●●
175. 22025586 c.2171C>T p.T724I missense 0.00001647●●●●●●
176. 22025567 c.2190C>A p.H730Q missense 0.00002471●●●●●●
177. 22025566 c.2191T>G p.W731G missense 0.00004119●●●●●●
178. 22025560 c.2197A>G p.N733D missense 0.00001647●●●●●●
179. 22025552 c.2198+7A>G splice site 0.00004119●●●●●●
180. 22017422 c.2199-11T>C splice site 0.99952088●●●●●●
181. 22017418 c.2199-7C>T splice site 0.00000828●●●●●●
182. 22017417 c.2199-6T>C splice site 0.00004968●●●●●●
183. 22017410 c.2200G>A p.V734I missense 0.00701484●●●●●●
184. 22017398 c.2212G>A p.E738K missense 0.00001657●●●●●●
185. 22017388 c.2222T>C p.F741S missense 0.00005801●●●●●●
186. 22017373 c.2237G>A p.S746N missense 0.00000830●●●●●●
187. 22017371 c.2237+2T>C essential splice site 0.00000830●●●●●●
188. 22015992 c.2238-4T>C splice site 0.00001737●●●●●●
189. 22015989 c.2238-1G>A essential splice site 0.00162086●●●●●●
190. 22015984 c.2242A>G p.N748D missense 0.00000836●●●●●●
191. 22015981 c.2245A>T p.R749W missense 0.00000835●●●●●●
192. 22015936 c.2290G>A p.A764T missense 0.00000831●●●●●●
193. 22015935 c.2291C>T p.A764V missense 0.00002492●●●●●●
194. 22015933 c.2293A>G p.T765A missense 0.00000831●●●●●●
195. 22015926 c.2300A>G p.E767G missense 0.00000831●●●●●●
196. 22015914 c.2312C>T p.T771I missense 0.00001666●●●●●●
197. 22015911 c.2315T>C p.F772S missense 0.00000834●●●●●●
198. 22013998 c.2340-9C>T splice site 0.00000826●●●●●●
199. 22013972 c.2357A>G p.D786G missense 0.00000825●●●●●●
200. 22013961 c.2368C>T p.L790F missense 0.00000825●●●●●●
201. 22013954 c.2375C>T p.P792L missense 0.00000825●●●●●●
202. 22013937 c.2392C>A p.P798T missense 0.00000825●●●●●●
203. 22013896 c.2424+9T>C splice site 0.00741575●●●●●●
204. 22012601 c.2425-1G>T essential splice site 0.00000824●●●●●●
205. 22012582 c.2443G>T p.G815X nonsense 0.00001648●●●●●●
206. 22012570 c.2455A>G p.R819G missense 0.00000824●●●●●●
207. 22012564 c.2461T>A p.C821S missense 0.00000824●●●●●●
208. 22012560 c.2465T>C p.V822A missense 0.00000824●●●●●●
209. 22012554 c.2471G>A p.R824Q missense 0.00000824●●●●●●
210. 22012525 c.2500T>C p.F834L missense 0.00002473●●●●●●
211. 22012512 c.2505+8T>C splice site 0.00000824●●●●●●
212. 22005439 c.2506G>A p.D836N missense 0.00000828●●●●●●
213. 22005391 c.2554C>T p.Q852X nonsense 0.00002474●●●●●●
214. 22005359 c.2586C>G p.D862E missense 0.00000824●●●●●●
215. 22005346 c.2599G>A p.V867I missense 0.00000824●●●●●●
216. 22005315 c.2630C>T p.T877M missense 0.00004121●●●●●●
217. 22005313 c.2632C>T p.H878Y missense 0.00000824●●●●●●
218. 22005307 c.2638G>T p.D880Y missense 0.00000824●●●●●●
219. 22005304 c.2641T>C p.W881R missense 0.00000824●●●●●●
220. 22005297 c.2643+5G>A splice site 0.00000825●●●●●●
221. 22005167 c.2644-11G>A splice site 0.00647467●●●●●●
222. 22005159 c.2644-3T>G splice site 0.00003314●●●●●●
223. 22005157 c.2644-1G>C essential splice site 0.00000829●●●●●●
224. 22005152 c.2648T>C p.I883T missense 0.00000828●●●●●●
225. 22005141 c.2659G>C p.D887H missense 0.00000829●●●●●●
226. 22005134 c.2666G>A p.S889N missense 0.00000829●●●●●●
227. 22005099 c.2701A>C p.T901P missense 0.00000829●●●●●●
228. 22005094 c.2706delA p.Asp903MetfsTer12 frameshift 0.00000829●●●●●●
229. 22005078 c.2722G>A p.E908K missense 0.00001658●●●●●●
230. 22005043 c.2757A>C p.Q919H missense 0.00000828●●●●●●
231. 22005032 c.2768delA p.Lys923ArgfsTer10 frameshift 0.00000828●●●●●●
232. 22001186 c.2770-6C>A splice site 0.00000828●●●●●●
233. 22001180 c.2770G>A p.D924N missense 0.00000827●●●●●●
234. 22001171 c.2779G>T p.A927S missense 0.00000826●●●●●●
235. 22001168 c.2782G>A p.D928N missense 0.00000826●●●●●●
236. 22001166 c.2784C>G p.D928E missense 0.00003305●●●●●●
237. 22001137 c.2813G>A p.R938Q missense 0.00000825●●●●●●
238. 22001135 c.2815C>T p.R939W missense 0.00000825●●●●●●
239. 22001134 c.2816G>A p.R939Q missense 0.00001651●●●●●●
240. 22001120 c.2830A>G p.R944G missense 0.00000826●●●●●●
241. 22001093 c.2857G>A p.E953K missense 0.00003306●●●●●●
242. 22001088 c.2862C>G p.D954E missense 0.00000827●●●●●●
243. 22001081 c.2866+3A>G splice site 0.00007462●●●●●●
244. 21998772 c.2867-6A>G splice site 0.00000897●●●●●●
245. 21998771 c.2867-5T>C splice site 0.00006240●●●●●●
246. 21998743 c.2890G>A p.D964N missense 0.00000835●●●●●●
247. 21998739 c.2894A>G p.D965G missense 0.00000831●●●●●●
248. 21998718 c.2915G>A p.R972K missense 0.00000826●●●●●●
249. 21998706 c.2927A>T p.K976I missense 0.00011559●●●●●●
250. 21998701 c.2932C>A p.P978T missense 0.00002477●●●●●●
251. 21998698 c.2935T>C p.W979R missense 0.00000825●●●●●●
252. 21998695 c.2938A>G p.K980E missense 0.00000825●●●●●●
253. 21998692 c.2941A>G p.T981A missense 0.00000825●●●●●●
254. 21998691 c.2942C>A p.T981N missense 0.00000825●●●●●●
255. 21998683 c.2950C>T p.R984C missense 0.00000825●●●●●●
256. 21998682 c.2951G>A p.R984H missense 0.00002476●●●●●●
257. 21998650 c.2983A>G p.I995V missense 0.00001650●●●●●●
258. 21998616 c.3017delC p.Ser1006TrpfsTer4 frameshift 0.00000825●●●●●●
259. 21998572 c.3061G>A p.E1021K missense 0.00002484●●●●●●
260. 21998571 c.3062A>T p.E1021V missense 0.00000828●●●●●●
261. 21998563 c.3070A>G p.I1024V missense 0.00003318●●●●●●
262. 21998557 c.3076A>G p.N1026D missense 0.00000831●●●●●●
263. 21998553 c.3080C>T p.T1027I missense 0.00001665●●●●●●
264. 21998538 c.3095A>C p.Q1032P missense 0.00000846●●●●●●
265. 21998534 c.3096+3A>G splice site 0.00000853●●●●●●
266. 21998533 c.3096+4delC splice site 0.00000857●●●●●●
267. 21998532 c.3096+5A>G splice site 0.00000857●●●●●●
268. 21998531 c.3096+6A>G splice site 0.00000859●●●●●●
269. 21998530 c.3096+7T>C splice site 0.00001722●●●●●●
270. 21997857 c.3097-8C>G splice site 0.00000842●●●●●●
271. 21997769 c.3177G>C p.W1059C missense 0.00000824●●●●●●
272. 21997758 c.3188C>T p.T1063I missense 0.00000824●●●●●●
273. 21997726 c.3220A>G p.N1074D missense 0.00000824●●●●●●
274. 21997725 c.3221A>G p.N1074S missense 0.00001648●●●●●●
275. 21997708 c.3238C>T p.P1080S missense 0.00000824●●●●●●
276. 21997693 c.3245+8delA splice site 0.00001649●●●●●●
277. 21997457 c.3275T>A p.I1092N missense 0.00002475●●●●●●
278. 21997457 c.3275T>G p.I1092S missense 0.00010725●●●●●●
279. 21997449 c.3283C>T p.R1095C missense 0.00001650●●●●●●
280. 21997433 c.3299C>G p.T1100S missense 0.00001650●●●●●●
281. 21997428 c.3304A>G p.I1102V missense 0.00000825●●●●●●
282. 21997417 c.3315G>C p.Q1105H missense 0.00000825●●●●●●
283. 21997411 c.3315+6T>C splice site 0.00001650●●●●●●
284. 21997410 c.3315+7A>T splice site 0.00002475●●●●●●
285. 21997408 c.3315+9C>A splice site 0.00003301●●●●●●
286. 21995412 c.3316-7C>A splice site 0.00000824●●●●●●
287. 21995411 c.3316-6T>A splice site 0.00000824●●●●●●
288. 21995409 c.3316-4A>C splice site 0.00006591●●●●●●
289. 21995312 c.3409G>A p.V1137I missense 0.00222515●●●●●●
290. 21995260 c.3461G>C p.R1154P missense 0.00000858●●●●●●
291. 21995255 c.3466G>A p.A1156T missense 0.00000871●●●●●●
292. 21991099 c.3479T>G p.L1160R missense 0.00000825●●●●●●
293. 21991021 c.3557G>A p.R1186Q missense 0.00000825●●●●●●
294. 21982000 c.3567-6C>G splice site 0.00001652●●●●●●
295. 21981989 c.3572A>G p.E1191G missense 0.00000824●●●●●●
296. 21981978 c.3583A>G p.K1195E missense 0.00000824●●●●●●
297. 21981972 c.3589C>T p.R1197C missense 0.00009061●●●●●●
298. 21981971 c.3590G>A p.R1197H missense 0.00001648●●●●●●
299. 21981967 c.3594G>A p.M1198I missense 0.00010708●●●●●●
300. 21981959 c.3602T>G p.L1201R missense 0.00000824●●●●●●
301. 21981945 c.3616A>T p.N1206Y missense 0.00000824●●●●●●
302. 21981911 c.3650G>C p.R1217T missense 0.00000824●●●●●●
303. 21981908 c.3653G>A p.W1218X nonsense 0.00000824●●●●●●
304. 21981899 c.3662T>C p.V1221A missense 0.00000824●●●●●●
305. 21981893 c.3668C>T p.T1223M missense 0.00001647●●●●●●
306. 21981892 c.3669G>A p.T1223T splice site 0.00006589●●●●●●
307. 21981889 c.3669+3A>G splice site 0.00000824●●●●●●
308. 21981888 c.3669+4C>G splice site 0.00002471●●●●●●
309. 21981888 c.3669+4C>T splice site 0.00000824●●●●●●
310. 21981887 c.3669+5G>A splice site 0.00001647●●●●●●
311. 21981882 c.3669+10T>C splice site 0.00004942●●●●●●
312. 21971182 c.3673_3674insT p.Tyr1225LeufsTer16 frameshift 0.00000825●●●●●●
313. 21971181 c.3674A>G p.Y1225C missense 0.00000825●●●●●●
314. 21971149 c.3706A>G p.I1236V missense 0.00000824●●●●●●
315. 21971148 c.3707T>C p.I1236T missense 0.00000824●●●●●●
316. 21971127 c.3728C>T p.S1243L missense 0.00000824●●●●●●
317. 21971085 c.3770C>T p.T1257M missense 0.00001648●●●●●●
318. 21971084 c.3771G>A splice site 0.00000824●●●●●●
319. 21971082 c.3771+2T>G essential splice site 0.00000824●●●●●●
320. 21971080 c.3771+4G>C splice site 0.00001648●●●●●●
321. 21971076 c.3771+8T>C splice site 0.00002473●●●●●●
322. 21970242 c.3772-1G>A essential splice site 0.00000830●●●●●●
323. 21970216 c.3797T>C p.V1266A missense 0.00000827●●●●●●
324. 21970150 c.3863T>C p.M1288T missense 0.00000825●●●●●●
325. 21970126 c.3887C>T p.T1296I missense 0.00000826●●●●●●
326. 21970119 c.3892+2T>C essential splice site 0.00000827●●●●●●
327. 21968830 c.3893-3C>A splice site 0.00000824●●●●●●
328. 21968830 c.3893-3C>T splice site 0.00001649●●●●●●
329. 21968827 c.3893A>T p.D1298V missense 0.00000824●●●●●●
330. 21968816 c.3904G>T p.V1302F missense 0.00000824●●●●●●
331. 21968807 c.3913C>T p.H1305Y missense 0.00003298●●●●●●
332. 21968806 c.3914A>G p.H1305R missense 0.00000824●●●●●●
333. 21968777 c.3943C>T p.H1315Y missense 0.00000825●●●●●●
334. 21968774 c.3946G>C p.D1316H missense 0.00000825●●●●●●
335. 21968771 c.3949C>G p.L1317V missense 0.00000825●●●●●●
336. 21968765 c.3955G>A p.V1319I missense 0.00000824●●●●●●
337. 21968764 c.3956T>G p.V1319G missense 0.00001649●●●●●●
338. 21968759 c.3961T>C p.Y1321H missense 0.00000824●●●●●●
339. 21968726 c.3994G>A p.V1332I missense 0.00000824●●●●●●
340. 21968711 c.4009A>G p.K1337E missense 0.00000825●●●●●●
341. 21967662 c.4024-6T>C splice site 0.00000826●●●●●●
342. 21967594 c.4086G>A p.M1362I missense 0.00000827●●●●●●
343. 21967587 c.4093A>G p.I1365V missense 0.00019038●●●●●●
344. 21967585 c.4095A>G p.I1365M missense 0.00000828●●●●●●
345. 21967582 c.4098T>G p.F1366L missense 0.00000829●●●●●●
346. 21967579 c.4101T>C p.D1367D splice site 0.00000829●●●●●●
347. 21965083 c.4111G>A p.V1371I missense 0.00000826●●●●●●
348. 21965068 c.4126G>A p.D1376N missense 0.00000825●●●●●●
349. 21965047 c.4147C>T p.H1383Y missense 0.00001650●●●●●●
350. 21965044 c.4150A>G p.T1384A missense 0.00001650●●●●●●
351. 21965038 c.4156C>T p.R1386C missense 0.00000825●●●●●●
352. 21965026 c.4168T>C p.S1390P missense 0.00000825●●●●●●
353. 21964977 c.4211+6T>C splice site 0.00000826●●●●●●
354. 21964975 c.4211+8A>T splice site 0.00000826●●●●●●
355. 21962897 c.4212-8C>T splice site 0.00000837●●●●●●
356. 21962892 c.4212-3C>T splice site 0.00001671●●●●●●
357. 21962890 c.4212-1G>T essential splice site 0.00000835●●●●●●
358. 21962870 c.4231T>C p.C1411R missense 0.00000831●●●●●●
359. 21962846 c.4255T>C p.W1419R missense 0.00001659●●●●●●
360. 21962783 c.4315+3A>G splice site 0.00000836●●●●●●
361. 21962780 c.4315+6T>C splice site 0.00001674●●●●●●
362. 21960410 c.4319C>T p.A1440V missense 0.00002476●●●●●●
363. 21960407 c.4322T>C p.V1441A missense 0.00000825●●●●●●
364. 21960404 c.4325T>C p.V1442A missense 0.00000825●●●●●●
365. 21960377 c.4352T>C p.V1451A missense 0.00000824●●●●●●
366. 21960375 c.4354G>C p.G1452R missense 0.00000824●●●●●●
367. 21960374 c.4355_4356delGA p.Gly1452AlafsTer22 frameshift 0.00000824●●●●●●
368. 21958973 c.4471G>A p.V1491I missense 0.00000827●●●●●●
369. 21958955 c.4489G>C p.D1497H missense 0.00000826●●●●●●
370. 21958932 c.4512T>A splice site 0.00001651●●●●●●
371. 21958925 c.4512+7A>G splice site 0.00003302●●●●●●
372. 21958249 c.4513-4C>T splice site 0.00000840●●●●●●
373. 21958248 c.4513-3C>T splice site 0.00000840●●●●●●
374. 21958242 c.4516C>T p.R1506C missense 0.00010040●●●●●●
375. 21958241 c.4517G>A p.R1506H missense 0.00001672●●●●●●
376. 21958223 c.4535A>G p.D1512G missense 0.00000829●●●●●●
377. 21958221 c.4537G>A p.A1513T missense 0.00004974●●●●●●
378. 21958214 c.4544T>G p.L1515R missense 0.00001656●●●●●●
379. 21958211 c.4547T>C p.V1516A missense 0.00000828●●●●●●
380. 21958203 c.4555T>A p.F1519I missense 0.00000827●●●●●●
381. 21958189 c.4569_4570insAAA p.Ile1523_Leu1524insLys inframe 0.00064430●●●●●●
382. 21958187 c.4571T>C p.L1524S missense 0.00000827●●●●●●
383. 21958187 c.4571_4572delTA p.Leu1524CysfsTer4 frameshift 0.00064416●●●●●●
384. 21958187 c.4571_4572dupTA p.Val1525Ter frameshift 0.00000826●●●●●●
385. 21958178 c.4580G>A p.C1527Y missense 0.00000825●●●●●●
386. 21958167 c.4591C>T p.P1531S missense 0.00005775●●●●●●
387. 21958158 c.4600C>T p.L1534F missense 0.00000825●●●●●●
388. 21958155 c.4603G>A p.A1535T missense 0.00007421●●●●●●
389. 21958155 c.4603G>T p.A1535S missense 0.00000825●●●●●●
390. 21958154 c.4604C>A p.A1535D missense 0.00004947●●●●●●
391. 21958148 c.4610A>G p.K1537R missense 0.00000825●●●●●●
392. 21958145 c.4613A>G p.N1538S missense 0.00000824●●●●●●
393. 21958131 c.4627A>C p.T1543P missense 0.00000824●●●●●●
394. 21958127 c.4631T>C p.L1544S missense 0.00003297●●●●●●
395. 21958124 c.4634T>C p.V1545A 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.