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

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.