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. 22086785 c.215G>A p.R72K missense 0.00004121●●●●●●
53. 22005315 c.2630C>T p.T877M missense 0.00004121●●●●●●
54. 22035738 c.1981C>T p.R661C missense 0.00004121●●●●●●
55. 22025566 c.2191T>G p.W731G missense 0.00004119●●●●●●
56. 22025552 c.2198+7A>G splice site 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. 22063861 c.1063G>T p.A355S missense 0.00003305●●●●●●
65. 22001166 c.2784C>G p.D928E missense 0.00003305●●●●●●
66. 22063842 c.1082C>G p.A361G missense 0.00003303●●●●●●
67. 22059075 c.1603T>C p.Y535H 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. 22089560 c.49G>A p.D17N missense 0.00002484●●●●●●
79. 22063105 c.1306G>A p.A436T 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. 21960410 c.4319C>T p.A1440V missense 0.00002476●●●●●●
84. 21998682 c.2951G>A p.R984H 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. 22035719 c.2000C>T p.T667I missense 0.00002473●●●●●●
91. 22012525 c.2500T>C p.F834L missense 0.00002473●●●●●●
92. 21971076 c.3771+8T>C splice site 0.00002473●●●●●●
93. 22069987 c.457G>A p.V153I missense 0.00002472●●●●●●
94. 22070007 c.437T>A p.I146N missense 0.00002472●●●●●●
95. 22025599 c.2158G>A p.G720S missense 0.00002471●●●●●●
96. 22025567 c.2190C>A p.H730Q missense 0.00002471●●●●●●
97. 21981888 c.3669+4C>G splice site 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. 21962892 c.4212-3C>T splice site 0.00001671●●●●●●
103. 22061066 c.1400C>T p.A467V missense 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. 22065948 c.869A>T p.Y290F missense 0.00001651●●●●●●
118. 22001134 c.2816G>A p.R939Q missense 0.00001651●●●●●●
119. 22063159 c.1252G>A p.A418T missense 0.00001651●●●●●●
120. 21958932 c.4512T>A splice site 0.00001651●●●●●●
121. 21965047 c.4147C>T p.H1383Y missense 0.00001650●●●●●●
122. 21997433 c.3299C>G p.T1100S missense 0.00001650●●●●●●
123. 21998650 c.2983A>G p.I995V missense 0.00001650●●●●●●
124. 22086866 c.143-9_143-8delCT splice site 0.00001650●●●●●●
125. 21997411 c.3315+6T>C splice site 0.00001650●●●●●●
126. 21965044 c.4150A>G p.T1384A missense 0.00001650●●●●●●
127. 21997449 c.3283C>T p.R1095C missense 0.00001650●●●●●●
128. 21968764 c.3956T>G p.V1319G missense 0.00001649●●●●●●
129. 22068675 c.743T>C p.I248T missense 0.00001649●●●●●●
130. 22035776 c.1943G>A p.G648E missense 0.00001649●●●●●●
131. 22035798 c.1921A>G p.T641A missense 0.00001649●●●●●●
132. 22035777 c.1942G>C p.G648R missense 0.00001649●●●●●●
133. 22035737 c.1982G>A p.R661H missense 0.00001649●●●●●●
134. 22086744 c.256G>C p.E86Q missense 0.00001649●●●●●●
135. 21997693 c.3245+8delA splice site 0.00001649●●●●●●
136. 21968830 c.3893-3C>T splice site 0.00001649●●●●●●
137. 22035741 c.1978C>T p.R660W missense 0.00001649●●●●●●
138. 22012582 c.2443G>T p.G815X nonsense 0.00001648●●●●●●
139. 21971080 c.3771+4G>C splice site 0.00001648●●●●●●
140. 21997725 c.3221A>G p.N1074S missense 0.00001648●●●●●●
141. 21981971 c.3590G>A p.R1197H missense 0.00001648●●●●●●
142. 21971085 c.3770C>T p.T1257M missense 0.00001648●●●●●●
143. 22078957 c.325G>A p.V109M missense 0.00001647●●●●●●
144. 22025560 c.2197A>G p.N733D missense 0.00001647●●●●●●
145. 22025602 c.2155C>T p.L719F missense 0.00001647●●●●●●
146. 21981893 c.3668C>T p.T1223M missense 0.00001647●●●●●●
147. 22078993 c.289C>T p.R97W missense 0.00001647●●●●●●
148. 22025586 c.2171C>T p.T724I 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. 21998532 c.3096+5A>G splice site 0.00000857●●●●●●
158. 21998533 c.3096+4delC 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. 21958249 c.4513-4C>T splice site 0.00000840●●●●●●
164. 22028664 c.2020-4G>A splice site 0.00000840●●●●●●
165. 21958248 c.4513-3C>T splice site 0.00000840●●●●●●
166. 22089507 c.102T>A p.H34Q missense 0.00000837●●●●●●
167. 22061151 c.1321-6C>T splice site 0.00000837●●●●●●
168. 21962897 c.4212-8C>T splice site 0.00000837●●●●●●
169. 22068843 c.575G>A p.R192K missense 0.00000837●●●●●●
170. 22059149 c.1529G>A p.W510X nonsense 0.00000836●●●●●●
171. 22068842 c.576A>T p.R192S missense 0.00000836●●●●●●
172. 22028650 c.2030G>T p.G677V missense 0.00000836●●●●●●
173. 22061143 c.1323C>G p.I441M missense 0.00000836●●●●●●
174. 22015984 c.2242A>G p.N748D missense 0.00000836●●●●●●
175. 22061144 c.1322T>A p.I441N missense 0.00000836●●●●●●
176. 21962783 c.4315+3A>G splice site 0.00000836●●●●●●
177. 21998743 c.2890G>A p.D964N missense 0.00000835●●●●●●
178. 22015981 c.2245A>T p.R749W missense 0.00000835●●●●●●
179. 21962890 c.4212-1G>T essential splice site 0.00000835●●●●●●
180. 22061070 c.1396C>T p.L466F missense 0.00000835●●●●●●
181. 22068838 c.580G>A p.V194I missense 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. 22048201 c.1659+8A>C splice site 0.00000832●●●●●●
186. 22089521 c.88A>G p.N30D missense 0.00000832●●●●●●
187. 22048210 c.1658dupC p.Thr554TyrfsTer54 frameshift 0.00000832●●●●●●
188. 22069869 c.573+2T>G essential splice site 0.00000832●●●●●●
189. 22015926 c.2300A>G p.E767G missense 0.00000831●●●●●●
190. 21998557 c.3076A>G p.N1026D missense 0.00000831●●●●●●
191. 22028590 c.2090C>G p.T697R missense 0.00000831●●●●●●
192. 22015933 c.2293A>G p.T765A missense 0.00000831●●●●●●
193. 22065997 c.820A>G p.K274E missense 0.00000831●●●●●●
194. 22028608 c.2072T>C p.I691T missense 0.00000831●●●●●●
195. 21962870 c.4231T>C p.C1411R missense 0.00000831●●●●●●
196. 22015936 c.2290G>A p.A764T missense 0.00000831●●●●●●
197. 21998739 c.2894A>G p.D965G missense 0.00000831●●●●●●
198. 22063919 c.1012-7G>A splice site 0.00000831●●●●●●
199. 22063091 c.1320G>C p.Q440H missense 0.00000830●●●●●●
200. 21970242 c.3772-1G>A essential splice site 0.00000830●●●●●●
201. 22089608 c.1delA p.Met1? frameshift 0.00000830●●●●●●
202. 22017371 c.2237+2T>C essential splice site 0.00000830●●●●●●
203. 22089532 c.77T>C p.V26A missense 0.00000830●●●●●●
204. 22063917 c.1012-5A>G splice site 0.00000830●●●●●●
205. 22017373 c.2237G>A p.S746N missense 0.00000830●●●●●●
206. 22089533 c.76G>A p.V26M missense 0.00000830●●●●●●
207. 22005157 c.2644-1G>C essential splice site 0.00000829●●●●●●
208. 22005134 c.2666G>A p.S889N missense 0.00000829●●●●●●
209. 22040843 c.1828_1829delTT p.Leu610GlufsTer2 frameshift 0.00000829●●●●●●
210. 21967582 c.4098T>G p.F1366L missense 0.00000829●●●●●●
211. 22063911 c.1013T>C p.I338T missense 0.00000829●●●●●●
212. 21967579 c.4101T>C p.D1367D splice site 0.00000829●●●●●●
213. 22063099 c.1312C>A p.P438T missense 0.00000829●●●●●●
214. 22005094 c.2706delA p.Asp903MetfsTer12 frameshift 0.00000829●●●●●●
215. 21958223 c.4535A>G p.D1512G missense 0.00000829●●●●●●
216. 22005099 c.2701A>C p.T901P missense 0.00000829●●●●●●
217. 22040854 c.1817A>G p.N606S missense 0.00000829●●●●●●
218. 22005141 c.2659G>C p.D887H missense 0.00000829●●●●●●
219. 22065991 c.826G>A p.A276T missense 0.00000828●●●●●●
220. 22089583 c.26A>G p.N9S missense 0.00000828●●●●●●
221. 22005152 c.2648T>C p.I883T missense 0.00000828●●●●●●
222. 21958211 c.4547T>C p.V1516A missense 0.00000828●●●●●●
223. 22005043 c.2757A>C p.Q919H missense 0.00000828●●●●●●
224. 21967585 c.4095A>G p.I1365M missense 0.00000828●●●●●●
225. 22005032 c.2768delA p.Lys923ArgfsTer10 frameshift 0.00000828●●●●●●
226. 22089562 c.47A>G p.N16S missense 0.00000828●●●●●●
227. 22017418 c.2199-7C>T splice site 0.00000828●●●●●●
228. 22089572 c.37T>C p.Y13H missense 0.00000828●●●●●●
229. 22001186 c.2770-6C>A splice site 0.00000828●●●●●●
230. 22005439 c.2506G>A p.D836N missense 0.00000828●●●●●●
231. 22068798 c.620A>G p.D207G missense 0.00000828●●●●●●
232. 22040792 c.1879C>G p.P627A missense 0.00000828●●●●●●
233. 21998571 c.3062A>T p.E1021V missense 0.00000828●●●●●●
234. 21958203 c.4555T>A p.F1519I missense 0.00000827●●●●●●
235. 21970216 c.3797T>C p.V1266A missense 0.00000827●●●●●●
236. 22001180 c.2770G>A p.D924N missense 0.00000827●●●●●●
237. 22065798 c.1011+8C>T splice site 0.00000827●●●●●●
238. 22001088 c.2862C>G p.D954E missense 0.00000827●●●●●●
239. 22065800 c.1011+6T>C splice site 0.00000827●●●●●●
240. 21958973 c.4471G>A p.V1491I missense 0.00000827●●●●●●
241. 21958187 c.4571T>C p.L1524S missense 0.00000827●●●●●●
242. 21970119 c.3892+2T>C essential splice site 0.00000827●●●●●●
243. 21967594 c.4086G>A p.M1362I missense 0.00000827●●●●●●
244. 22035697 c.2019+3T>C splice site 0.00000826●●●●●●
245. 22070040 c.407-3C>T splice site 0.00000826●●●●●●
246. 22065976 c.841C>T p.R281W missense 0.00000826●●●●●●
247. 21967662 c.4024-6T>C splice site 0.00000826●●●●●●
248. 22065819 c.998A>T p.N333I missense 0.00000826●●●●●●
249. 22065950 c.867G>A p.M289I missense 0.00000826●●●●●●
250. 22065847 c.970C>T p.R324C missense 0.00000826●●●●●●
251. 21958955 c.4489G>C p.D1497H missense 0.00000826●●●●●●
252. 22035695 c.2019+5T>C splice site 0.00000826●●●●●●
253. 21970126 c.3887C>T p.T1296I missense 0.00000826●●●●●●
254. 22001168 c.2782G>A p.D928N missense 0.00000826●●●●●●
255. 22065964 c.853A>T p.I285L missense 0.00000826●●●●●●
256. 21964975 c.4211+8A>T splice site 0.00000826●●●●●●
257. 22059069 c.1609T>A p.S537T missense 0.00000826●●●●●●
258. 21965083 c.4111G>A p.V1371I missense 0.00000826●●●●●●
259. 21998718 c.2915G>A p.R972K missense 0.00000826●●●●●●
260. 22035697 c.2019+3T>A splice site 0.00000826●●●●●●
261. 22065964 c.853A>G p.I285V missense 0.00000826●●●●●●
262. 21958187 c.4571_4572dupTA p.Val1525Ter frameshift 0.00000826●●●●●●
263. 22001171 c.2779G>T p.A927S missense 0.00000826●●●●●●
264. 22001120 c.2830A>G p.R944G missense 0.00000826●●●●●●
265. 21964977 c.4211+6T>C splice site 0.00000826●●●●●●
266. 22013998 c.2340-9C>T splice site 0.00000826●●●●●●
267. 22065906 c.911G>A p.R304H missense 0.00000825●●●●●●
268. 22086716 c.284C>T p.S95L missense 0.00000825●●●●●●
269. 22063774 c.1150C>T p.R384C missense 0.00000825●●●●●●
270. 21991099 c.3479T>G p.L1160R missense 0.00000825●●●●●●
271. 21958158 c.4600C>T p.L1534F missense 0.00000825●●●●●●
272. 21958148 c.4610A>G p.K1537R missense 0.00000825●●●●●●
273. 21968777 c.3943C>T p.H1315Y missense 0.00000825●●●●●●
274. 22063138 c.1273_1274delAT p.Met425ValfsTer8 frameshift 0.00000825●●●●●●
275. 22035717 c.2002G>A p.E668K missense 0.00000825●●●●●●
276. 21998695 c.2938A>G p.K980E missense 0.00000825●●●●●●
277. 21997428 c.3304A>G p.I1102V missense 0.00000825●●●●●●
278. 22063797 c.1127C>T p.T376I missense 0.00000825●●●●●●
279. 21998616 c.3017delC p.Ser1006TrpfsTer4 frameshift 0.00000825●●●●●●
280. 22063133 c.1278G>T p.W426C missense 0.00000825●●●●●●
281. 22013961 c.2368C>T p.L790F missense 0.00000825●●●●●●
282. 21968711 c.4009A>G p.K1337E missense 0.00000825●●●●●●
283. 22001137 c.2813G>A p.R938Q missense 0.00000825●●●●●●
284. 21965026 c.4168T>C p.S1390P missense 0.00000825●●●●●●
285. 21958178 c.4580G>A p.C1527Y missense 0.00000825●●●●●●
286. 22063158 c.1253C>T p.A418V missense 0.00000825●●●●●●
287. 22005297 c.2643+5G>A splice site 0.00000825●●●●●●
288. 22063805 c.1119C>G p.Y373X nonsense 0.00000825●●●●●●
289. 22063777 c.1147C>T p.L383F missense 0.00000825●●●●●●
290. 21968771 c.3949C>G p.L1317V missense 0.00000825●●●●●●
291. 22068735 c.683A>C p.Y228S missense 0.00000825●●●●●●
292. 22086863 c.143-6T>C splice site 0.00000825●●●●●●
293. 22047092 c.1676C>T p.A559V missense 0.00000825●●●●●●
294. 21998683 c.2950C>T p.R984C missense 0.00000825●●●●●●
295. 22065869 c.948_949delTT p.Cys317TyrfsTer10 frameshift 0.00000825●●●●●●
296. 21998698 c.2935T>C p.W979R missense 0.00000825●●●●●●
297. 21965068 c.4126G>A p.D1376N missense 0.00000825●●●●●●
298. 22065910 c.907T>C p.F303L missense 0.00000825●●●●●●
299. 22063137 c.1274T>C p.M425T missense 0.00000825●●●●●●
300. 22013972 c.2357A>G p.D786G missense 0.00000825●●●●●●
301. 21965038 c.4156C>T p.R1386C missense 0.00000825●●●●●●
302. 21971181 c.3674A>G p.Y1225C missense 0.00000825●●●●●●
303. 22035714 c.2005G>A p.D669N missense 0.00000825●●●●●●
304. 21998691 c.2942C>A p.T981N missense 0.00000825●●●●●●
305. 22063812 c.1112C>G p.A371G missense 0.00000825●●●●●●
306. 22013937 c.2392C>A p.P798T missense 0.00000825●●●●●●
307. 22001135 c.2815C>T p.R939W missense 0.00000825●●●●●●
308. 22086862 c.143-5T>C splice site 0.00000825●●●●●●
309. 22065933 c.884G>A p.R295Q missense 0.00000825●●●●●●
310. 22065880 c.937G>A p.A313T missense 0.00000825●●●●●●
311. 21960404 c.4325T>C p.V1442A missense 0.00000825●●●●●●
312. 21991021 c.3557G>A p.R1186Q missense 0.00000825●●●●●●
313. 21958155 c.4603G>T p.A1535S missense 0.00000825●●●●●●
314. 22063782 c.1142T>A p.I381N missense 0.00000825●●●●●●
315. 21970150 c.3863T>C p.M1288T missense 0.00000825●●●●●●
316. 21968774 c.3946G>C p.D1316H missense 0.00000825●●●●●●
317. 21960407 c.4322T>C p.V1441A missense 0.00000825●●●●●●
318. 22035714 c.2005G>C p.D669H missense 0.00000825●●●●●●
319. 21998692 c.2941A>G p.T981A missense 0.00000825●●●●●●
320. 21997417 c.3315G>C p.Q1105H missense 0.00000825●●●●●●
321. 22063794 c.1130T>C p.I377T missense 0.00000825●●●●●●
322. 21971182 c.3673_3674insT p.Tyr1225LeufsTer16 frameshift 0.00000825●●●●●●
323. 22063116 c.1295C>A p.P432H missense 0.00000825●●●●●●
324. 22013954 c.2375C>T p.P792L missense 0.00000825●●●●●●
325. 21960375 c.4354G>C p.G1452R missense 0.00000824●●●●●●
326. 22025655 c.2102C>A p.T701N missense 0.00000824●●●●●●
327. 21997758 c.3188C>T p.T1063I missense 0.00000824●●●●●●
328. 22086797 c.203G>A p.G68E missense 0.00000824●●●●●●
329. 22012554 c.2471G>A p.R824Q missense 0.00000824●●●●●●
330. 21971149 c.3706A>G p.I1236V missense 0.00000824●●●●●●
331. 21981889 c.3669+3A>G splice site 0.00000824●●●●●●
332. 22078891 c.391C>T p.P131S missense 0.00000824●●●●●●
333. 22035780 c.1939C>T p.P647S missense 0.00000824●●●●●●
334. 21968765 c.3955G>A p.V1319I missense 0.00000824●●●●●●
335. 22068654 c.764T>C p.M255T missense 0.00000824●●●●●●
336. 21981945 c.3616A>T p.N1206Y missense 0.00000824●●●●●●
337. 22005346 c.2599G>A p.V867I missense 0.00000824●●●●●●
338. 21981978 c.3583A>G p.K1195E missense 0.00000824●●●●●●
339. 21958145 c.4613A>G p.N1538S missense 0.00000824●●●●●●
340. 22078953 c.329T>A p.M110K missense 0.00000824●●●●●●
341. 22005313 c.2632C>T p.H878Y missense 0.00000824●●●●●●
342. 21968827 c.3893A>T p.D1298V missense 0.00000824●●●●●●
343. 22035747 c.1972T>C p.S658P missense 0.00000824●●●●●●
344. 22086828 c.172dupA p.Ile58AsnfsTer13 frameshift 0.00000824●●●●●●
345. 21997769 c.3177G>C p.W1059C missense 0.00000824●●●●●●
346. 22012601 c.2425-1G>T essential splice site 0.00000824●●●●●●
347. 21960374 c.4355_4356delGA p.Gly1452AlafsTer22 frameshift 0.00000824●●●●●●
348. 22012560 c.2465T>C p.V822A missense 0.00000824●●●●●●
349. 21981899 c.3662T>C p.V1221A missense 0.00000824●●●●●●
350. 21958124 c.4634T>C p.V1545A missense 0.00000824●●●●●●
351. 21968806 c.3914A>G p.H1305R missense 0.00000824●●●●●●
352. 22078911 c.371A>G p.N124S missense 0.00000824●●●●●●
353. 22068684 c.734T>C p.L245P missense 0.00000824●●●●●●
354. 21971082 c.3771+2T>G essential splice site 0.00000824●●●●●●
355. 21960377 c.4352T>C p.V1451A missense 0.00000824●●●●●●
356. 21997708 c.3238C>T p.P1080S missense 0.00000824●●●●●●
357. 21981989 c.3572A>G p.E1191G missense 0.00000824●●●●●●
358. 21981959 c.3602T>G p.L1201R missense 0.00000824●●●●●●
359. 21971084 c.3771G>A splice site 0.00000824●●●●●●
360. 22086800 c.200C>T p.P67L missense 0.00000824●●●●●●
361. 21968830 c.3893-3C>A splice site 0.00000824●●●●●●
362. 22005359 c.2586C>G p.D862E missense 0.00000824●●●●●●
363. 21971127 c.3728C>T p.S1243L missense 0.00000824●●●●●●
364. 22005304 c.2641T>C p.W881R missense 0.00000824●●●●●●
365. 21968726 c.3994G>A p.V1332I missense 0.00000824●●●●●●
366. 22069925 c.519G>T p.M173I missense 0.00000824●●●●●●
367. 22078996 c.286C>T p.R96W missense 0.00000824●●●●●●
368. 22035777 c.1942G>A p.G648R missense 0.00000824●●●●●●
369. 22012512 c.2505+8T>C splice site 0.00000824●●●●●●
370. 21995411 c.3316-6T>A splice site 0.00000824●●●●●●
371. 22012564 c.2461T>A p.C821S missense 0.00000824●●●●●●
372. 21981908 c.3653G>A p.W1218X nonsense 0.00000824●●●●●●
373. 22078927 c.355A>G p.I119V missense 0.00000824●●●●●●
374. 22068690 c.728T>C p.I243T missense 0.00000824●●●●●●
375. 22035764 c.1955T>G p.L652R missense 0.00000824●●●●●●
376. 22068624 c.794A>G p.K265R missense 0.00000824●●●●●●
377. 22035793 c.1926A>G p.I642M missense 0.00000824●●●●●●
378. 21997726 c.3220A>G p.N1074D missense 0.00000824●●●●●●
379. 21995412 c.3316-7C>A splice site 0.00000824●●●●●●
380. 22086831 c.169C>T p.Q57X nonsense 0.00000824●●●●●●
381. 21971148 c.3707T>C p.I1236T missense 0.00000824●●●●●●
382. 22070015 c.429G>A p.M143I missense 0.00000824●●●●●●
383. 22035780 c.1939C>G p.P647A missense 0.00000824●●●●●●
384. 21968759 c.3961T>C p.Y1321H missense 0.00000824●●●●●●
385. 22025653 c.2104delA p.Met702Ter frameshift 0.00000824●●●●●●
386. 21981888 c.3669+4C>T splice site 0.00000824●●●●●●
387. 22025668 c.2093-4C>T splice site 0.00000824●●●●●●
388. 22068609 c.809A>C p.E270A missense 0.00000824●●●●●●
389. 22012570 c.2455A>G p.R819G missense 0.00000824●●●●●●
390. 21981911 c.3650G>C p.R1217T missense 0.00000824●●●●●●
391. 21958131 c.4627A>C p.T1543P missense 0.00000824●●●●●●
392. 22078939 c.343A>G p.T115A missense 0.00000824●●●●●●
393. 22005307 c.2638G>T p.D880Y missense 0.00000824●●●●●●
394. 21968816 c.3904G>T p.V1302F missense 0.00000824●●●●●●
395. 22035771 c.1948T>C p.Y650H 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.