ABCC9 protein-altering variants in ExAC


The table below lists the ABCC9 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 22040797 c.1874C>T p.S625L missense 0.00001655
2. 21998683 c.2950C>T p.R984C missense 0.00000825
3. 21962870 c.4231T>C p.C1411R missense 0.00000831
4. 21958221 c.4537G>A p.A1513T missense 0.00004974
5. 22040762 c.1909G>A p.V637I missense 0.00006625
6. 21958148 c.4610A>G p.K1537R missense 0.00000825
7. 21958167 c.4591C>T p.P1531S missense 0.00005775
8. 21960407 c.4322T>C p.V1441A missense 0.00000825
9. 21981893 c.3668C>T p.T1223M missense 0.00001647
10. 21998682 c.2951G>A p.R984H missense 0.00002476
11. 22001093 c.2857G>A p.E953K missense 0.00003306
12. 22001166 c.2784C>G p.D928E missense 0.00003305
13. 22005134 c.2666G>A p.S889N missense 0.00000829
14. 22005315 c.2630C>T p.T877M missense 0.00004121
15. 22017388 c.2222T>C p.F741S missense 0.00005801
16. 22025602 c.2155C>T p.L719F missense 0.00001647
17. 22035740 c.1979G>A p.R660Q missense 0.00005770
18. 22035792 c.1927A>C p.N643H missense 0.00004123
19. 22040812 c.1859G>A p.R620Q missense 0.00003311
20. 22040854 c.1817A>C p.N606T missense 0.00001658
21. 22061137 c.1329G>A p.M443I missense 0.00003342
22. 22063158 c.1253C>T p.A418V missense 0.00000825
23. 22063861 c.1063G>T p.A355S missense 0.00003305
24. 22068609 c.809A>C p.E270A missense 0.00000824
25. 22068654 c.764T>C p.M255T missense 0.00000824
26. 22070007 c.437T>A p.I146N missense 0.00002472
27. 21997457 c.3275T>A p.I1092N missense 0.00002475
28. 21997708 c.3238C>T p.P1080S missense 0.00000824
29. 22015914 c.2312C>T p.T771I missense 0.00001666
30. 22028594 c.2086C>T p.P696S missense 0.00005814
31. 22068798 c.620A>G p.D207G missense 0.00000828
32. 21968765 c.3955G>A p.V1319I missense 0.00000824
33. 21971181 c.3674A>G p.Y1225C missense 0.00000825
34. 21998571 c.3062A>T p.E1021V missense 0.00000828
35. 22001137 c.2813G>A p.R938Q missense 0.00000825
36. 22017398 c.2212G>A p.E738K missense 0.00001657
37. 22035726 c.1993G>A p.A665T missense 0.00006595
38. 22035732 c.1987C>T p.R663C missense 0.00007419
39. 22035738 c.1981C>T p.R661C missense 0.00004121
40. 22065991 c.826G>A p.A276T missense 0.00000828
41. 22068735 c.683A>C p.Y228S missense 0.00000825
42. 22078945 c.337G>A p.V113I missense 0.00004942
43. 22078995 c.287G>A p.R96Q missense 0.00003295
44. 21958145 c.4613A>G p.N1538S missense 0.00000824
45. 21962846 c.4255T>C p.W1419R missense 0.00001659
46. 21998557 c.3076A>G p.N1026D missense 0.00000831
47. 21998563 c.3070A>G p.I1024V missense 0.00003318
48. 21998650 c.2983A>G p.I995V missense 0.00001650
49. 21998701 c.2932C>A p.P978T missense 0.00002477
50. 22001135 c.2815C>T p.R939W missense 0.00000825
51. 22005099 c.2701A>C p.T901P missense 0.00000829
52. 22005346 c.2599G>A p.V867I missense 0.00000824
53. 22012525 c.2500T>C p.F834L missense 0.00002473
54. 22025560 c.2197A>G p.N733D missense 0.00001647
55. 22035777 c.1942G>A p.G648R missense 0.00000824
56. 22040792 c.1879C>G p.P627A missense 0.00000828
57. 22063773 c.1151G>A p.R384H missense 0.00002474
58. 22063794 c.1130T>C p.I377T missense 0.00000825
59. 22063797 c.1127C>T p.T376I missense 0.00000825
60. 22063873 c.1051G>T p.A351S missense 0.00001654
61. 22065964 c.853A>G p.I285V missense 0.00000826
62. 22078957 c.325G>A p.V109M missense 0.00001647
63. 22078977 c.305T>C p.L102P missense 0.00009061
64. 22078996 c.286C>T p.R96W missense 0.00000824
65. 22086716 c.284C>T p.S95L missense 0.00000825
66. 22086785 c.215G>A p.R72K missense 0.00004121
67. 21981972 c.3589C>T p.R1197C missense 0.00009061
68. 21971085 c.3770C>T p.T1257M missense 0.00001648
69. 22025599 c.2158G>A p.G720S missense 0.00002471
70. 22035793 c.1926A>G p.I642M missense 0.00000824
71. 22061070 c.1396C>T p.L466F missense 0.00000835
72. 22065819 c.998A>T p.N333I missense 0.00000826
73. 22069925 c.519G>T p.M173I missense 0.00000824
74. 21958124 c.4634T>C p.V1545A missense 0.00000824
75. 21958127 c.4631T>C p.L1544S missense 0.00003297
76. 21958131 c.4627A>C p.T1543P missense 0.00000824
77. 21958154 c.4604C>A p.A1535D missense 0.00004947
78. 21958155 c.4603G>A p.A1535T missense 0.00007421
79. 21958155 c.4603G>T p.A1535S missense 0.00000825
80. 21958158 c.4600C>T p.L1534F missense 0.00000825
81. 21958178 c.4580G>A p.C1527Y missense 0.00000825
82. 21958187 c.4571T>C p.L1524S missense 0.00000827
83. 21958203 c.4555T>A p.F1519I missense 0.00000827
84. 21958211 c.4547T>C p.V1516A missense 0.00000828
85. 21958214 c.4544T>G p.L1515R missense 0.00001656
86. 21958223 c.4535A>G p.D1512G missense 0.00000829
87. 21958241 c.4517G>A p.R1506H missense 0.00001672
88. 21958955 c.4489G>C p.D1497H missense 0.00000826
89. 21958973 c.4471G>A p.V1491I missense 0.00000827
90. 21960375 c.4354G>C p.G1452R missense 0.00000824
91. 21960377 c.4352T>C p.V1451A missense 0.00000824
92. 21960404 c.4325T>C p.V1442A missense 0.00000825
93. 21960410 c.4319C>T p.A1440V missense 0.00002476
94. 21965026 c.4168T>C p.S1390P missense 0.00000825
95. 21965038 c.4156C>T p.R1386C missense 0.00000825
96. 21965044 c.4150A>G p.T1384A missense 0.00001650
97. 21965047 c.4147C>T p.H1383Y missense 0.00001650
98. 21965068 c.4126G>A p.D1376N missense 0.00000825
99. 21965083 c.4111G>A p.V1371I missense 0.00000826
100. 21967582 c.4098T>G p.F1366L missense 0.00000829
101. 21967585 c.4095A>G p.I1365M missense 0.00000828
102. 21967594 c.4086G>A p.M1362I missense 0.00000827
103. 21968711 c.4009A>G p.K1337E missense 0.00000825
104. 21968726 c.3994G>A p.V1332I missense 0.00000824
105. 21968759 c.3961T>C p.Y1321H missense 0.00000824
106. 21968764 c.3956T>G p.V1319G missense 0.00001649
107. 21968771 c.3949C>G p.L1317V missense 0.00000825
108. 21968774 c.3946G>C p.D1316H missense 0.00000825
109. 21968777 c.3943C>T p.H1315Y missense 0.00000825
110. 21968806 c.3914A>G p.H1305R missense 0.00000824
111. 21968807 c.3913C>T p.H1305Y missense 0.00003298
112. 21968816 c.3904G>T p.V1302F missense 0.00000824
113. 21968827 c.3893A>T p.D1298V missense 0.00000824
114. 21970126 c.3887C>T p.T1296I missense 0.00000826
115. 21970150 c.3863T>C p.M1288T missense 0.00000825
116. 21970216 c.3797T>C p.V1266A missense 0.00000827
117. 21971127 c.3728C>T p.S1243L missense 0.00000824
118. 21971148 c.3707T>C p.I1236T missense 0.00000824
119. 21971149 c.3706A>G p.I1236V missense 0.00000824
120. 21981899 c.3662T>C p.V1221A missense 0.00000824
121. 21981911 c.3650G>C p.R1217T missense 0.00000824
122. 21981945 c.3616A>T p.N1206Y missense 0.00000824
123. 21981959 c.3602T>G p.L1201R missense 0.00000824
124. 21981971 c.3590G>A p.R1197H missense 0.00001648
125. 21981978 c.3583A>G p.K1195E missense 0.00000824
126. 21981989 c.3572A>G p.E1191G missense 0.00000824
127. 21991021 c.3557G>A p.R1186Q missense 0.00000825
128. 21991099 c.3479T>G p.L1160R missense 0.00000825
129. 21995255 c.3466G>A p.A1156T missense 0.00000871
130. 21995260 c.3461G>C p.R1154P missense 0.00000858
131. 21997417 c.3315G>C p.Q1105H missense 0.00000825
132. 21997428 c.3304A>G p.I1102V missense 0.00000825
133. 21997433 c.3299C>G p.T1100S missense 0.00001650
134. 21997449 c.3283C>T p.R1095C missense 0.00001650
135. 21997725 c.3221A>G p.N1074S missense 0.00001648
136. 21997726 c.3220A>G p.N1074D missense 0.00000824
137. 21997758 c.3188C>T p.T1063I missense 0.00000824
138. 21997769 c.3177G>C p.W1059C missense 0.00000824
139. 21998538 c.3095A>C p.Q1032P missense 0.00000846
140. 21998553 c.3080C>T p.T1027I missense 0.00001665
141. 21998572 c.3061G>A p.E1021K missense 0.00002484
142. 21998691 c.2942C>A p.T981N missense 0.00000825
143. 21998692 c.2941A>G p.T981A missense 0.00000825
144. 21998695 c.2938A>G p.K980E missense 0.00000825
145. 21998698 c.2935T>C p.W979R missense 0.00000825
146. 21998718 c.2915G>A p.R972K missense 0.00000826
147. 21998739 c.2894A>G p.D965G missense 0.00000831
148. 21998743 c.2890G>A p.D964N missense 0.00000835
149. 22001088 c.2862C>G p.D954E missense 0.00000827
150. 22001120 c.2830A>G p.R944G missense 0.00000826
151. 22001134 c.2816G>A p.R939Q missense 0.00001651
152. 22001168 c.2782G>A p.D928N missense 0.00000826
153. 22001171 c.2779G>T p.A927S missense 0.00000826
154. 22001180 c.2770G>A p.D924N missense 0.00000827
155. 22005043 c.2757A>C p.Q919H missense 0.00000828
156. 22005078 c.2722G>A p.E908K missense 0.00001658
157. 22005141 c.2659G>C p.D887H missense 0.00000829
158. 22005152 c.2648T>C p.I883T missense 0.00000828
159. 22005304 c.2641T>C p.W881R missense 0.00000824
160. 22005307 c.2638G>T p.D880Y missense 0.00000824
161. 22005313 c.2632C>T p.H878Y missense 0.00000824
162. 22005359 c.2586C>G p.D862E missense 0.00000824
163. 22005439 c.2506G>A p.D836N missense 0.00000828
164. 22012554 c.2471G>A p.R824Q missense 0.00000824
165. 22012560 c.2465T>C p.V822A missense 0.00000824
166. 22012564 c.2461T>A p.C821S missense 0.00000824
167. 22012570 c.2455A>G p.R819G missense 0.00000824
168. 22013937 c.2392C>A p.P798T missense 0.00000825
169. 22013954 c.2375C>T p.P792L missense 0.00000825
170. 22013961 c.2368C>T p.L790F missense 0.00000825
171. 22013972 c.2357A>G p.D786G missense 0.00000825
172. 22015911 c.2315T>C p.F772S missense 0.00000834
173. 22015926 c.2300A>G p.E767G missense 0.00000831
174. 22015933 c.2293A>G p.T765A missense 0.00000831
175. 22015935 c.2291C>T p.A764V missense 0.00002492
176. 22015936 c.2290G>A p.A764T missense 0.00000831
177. 22015981 c.2245A>T p.R749W missense 0.00000835
178. 22015984 c.2242A>G p.N748D missense 0.00000836
179. 22017373 c.2237G>A p.S746N missense 0.00000830
180. 22025566 c.2191T>G p.W731G missense 0.00004119
181. 22025567 c.2190C>A p.H730Q missense 0.00002471
182. 22025586 c.2171C>T p.T724I missense 0.00001647
183. 22025655 c.2102C>A p.T701N missense 0.00000824
184. 22028590 c.2090C>G p.T697R missense 0.00000831
185. 22028608 c.2072T>C p.I691T missense 0.00000831
186. 22028635 c.2045G>A p.G682D missense 0.00000833
187. 22028650 c.2030G>T p.G677V missense 0.00000836
188. 22035714 c.2005G>A p.D669N missense 0.00000825
189. 22035714 c.2005G>C p.D669H missense 0.00000825
190. 22035717 c.2002G>A p.E668K missense 0.00000825
191. 22035719 c.2000C>T p.T667I missense 0.00002473
192. 22035737 c.1982G>A p.R661H missense 0.00001649
193. 22035741 c.1978C>T p.R660W missense 0.00001649
194. 22035747 c.1972T>C p.S658P missense 0.00000824
195. 22035764 c.1955T>G p.L652R missense 0.00000824
196. 22035771 c.1948T>C p.Y650H missense 0.00000824
197. 22035776 c.1943G>A p.G648E missense 0.00001649
198. 22035777 c.1942G>C p.G648R missense 0.00001649
199. 22035780 c.1939C>G p.P647A missense 0.00000824
200. 22035780 c.1939C>T p.P647S missense 0.00000824
201. 22035798 c.1921A>G p.T641A missense 0.00001649
202. 22040822 c.1849G>A p.D617N missense 0.00001656
203. 22040854 c.1817A>G p.N606S missense 0.00000829
204. 22047092 c.1676C>T p.A559V missense 0.00000825
205. 22059069 c.1609T>A p.S537T missense 0.00000826
206. 22059075 c.1603T>C p.Y535H missense 0.00003303
207. 22061015 c.1451C>T p.T484I missense 0.00000850
208. 22061066 c.1400C>T p.A467V missense 0.00001671
209. 22061102 c.1364G>C p.S455T missense 0.00000833
210. 22061143 c.1323C>G p.I441M missense 0.00000836
211. 22061144 c.1322T>A p.I441N missense 0.00000836
212. 22063091 c.1320G>C p.Q440H missense 0.00000830
213. 22063099 c.1312C>A p.P438T missense 0.00000829
214. 22063105 c.1306G>A p.A436T missense 0.00002484
215. 22063116 c.1295C>A p.P432H missense 0.00000825
216. 22063133 c.1278G>T p.W426C missense 0.00000825
217. 22063137 c.1274T>C p.M425T missense 0.00000825
218. 22063159 c.1252G>A p.A418T missense 0.00001651
219. 22063774 c.1150C>T p.R384C missense 0.00000825
220. 22063777 c.1147C>T p.L383F missense 0.00000825
221. 22063782 c.1142T>A p.I381N missense 0.00000825
222. 22063795 c.1129A>G p.I377V missense 0.00006599
223. 22063812 c.1112C>G p.A371G missense 0.00000825
224. 22063842 c.1082C>G p.A361G missense 0.00003303
225. 22063911 c.1013T>C p.I338T missense 0.00000829
226. 22065847 c.970C>T p.R324C missense 0.00000826
227. 22065880 c.937G>A p.A313T missense 0.00000825
228. 22065906 c.911G>A p.R304H missense 0.00000825
229. 22065910 c.907T>C p.F303L missense 0.00000825
230. 22065933 c.884G>A p.R295Q missense 0.00000825
231. 22065948 c.869A>T p.Y290F missense 0.00001651
232. 22065950 c.867G>A p.M289I missense 0.00000826
233. 22065964 c.853A>T p.I285L missense 0.00000826
234. 22065975 c.842G>A p.R281Q missense 0.00002479
235. 22065976 c.841C>T p.R281W missense 0.00000826
236. 22065997 c.820A>G p.K274E missense 0.00000831
237. 22068624 c.794A>G p.K265R missense 0.00000824
238. 22068675 c.743T>C p.I248T missense 0.00001649
239. 22068684 c.734T>C p.L245P missense 0.00000824
240. 22068690 c.728T>C p.I243T missense 0.00000824
241. 22068838 c.580G>A p.V194I missense 0.00000835
242. 22068842 c.576A>T p.R192S missense 0.00000836
243. 22068843 c.575G>A p.R192K missense 0.00000837
244. 22069947 c.497G>A p.R166H missense 0.00003296
245. 22069987 c.457G>A p.V153I missense 0.00002472
246. 22070015 c.429G>A p.M143I missense 0.00000824
247. 22078891 c.391C>T p.P131S missense 0.00000824
248. 22078911 c.371A>G p.N124S missense 0.00000824
249. 22078927 c.355A>G p.I119V missense 0.00000824
250. 22078939 c.343A>G p.T115A missense 0.00000824
251. 22078953 c.329T>A p.M110K missense 0.00000824
252. 22078993 c.289C>T p.R97W missense 0.00001647
253. 22086744 c.256G>C p.E86Q missense 0.00001649
254. 22086797 c.203G>A p.G68E missense 0.00000824
255. 22086800 c.200C>T p.P67L missense 0.00000824
256. 22089507 c.102T>A p.H34Q missense 0.00000837
257. 22089521 c.88A>G p.N30D missense 0.00000832
258. 22089532 c.77T>C p.V26A missense 0.00000830
259. 22089533 c.76G>A p.V26M missense 0.00000830
260. 22089560 c.49G>A p.D17N missense 0.00002484
261. 22089562 c.47A>G p.N16S missense 0.00000828
262. 22089572 c.37T>C p.Y13H missense 0.00000828
263. 22089583 c.26A>G p.N9S missense 0.00000828
264. 22005391 c.2554C>T p.Q852X nonsense 0.00002474
265. 21981908 c.3653G>A p.W1218X nonsense 0.00000824
266. 22012582 c.2443G>T p.G815X nonsense 0.00001648
267. 22059149 c.1529G>A p.W510X nonsense 0.00000836
268. 22063805 c.1119C>G p.Y373X nonsense 0.00000825
269. 22086831 c.169C>T p.Q57X nonsense 0.00000824
270. 22063090 c.1320+1G>A essential splice site 0.00005814
271. 22089465 c.142+2T>C essential splice site 0.00000902
272. 21962890 c.4212-1G>T essential splice site 0.00000835
273. 21970119 c.3892+2T>C essential splice site 0.00000827
274. 21970242 c.3772-1G>A essential splice site 0.00000830
275. 21971082 c.3771+2T>G essential splice site 0.00000824
276. 22005157 c.2644-1G>C essential splice site 0.00000829
277. 22012601 c.2425-1G>T essential splice site 0.00000824
278. 22017371 c.2237+2T>C essential splice site 0.00000830
279. 22048252 c.1619-3_1619-2delCA essential splice site 0.00002494
280. 22069869 c.573+2T>G essential splice site 0.00000832
281. 22086715 c.284+1G>A essential splice site 0.00002475
282. 21958187 c.4571_4572dupTA p.Val1525Ter frameshift 0.00000826
283. 21960374 c.4355_4356delGA p.Gly1452AlafsTer22 frameshift 0.00000824
284. 21971182 c.3673_3674insT p.Tyr1225LeufsTer16 frameshift 0.00000825
285. 21998616 c.3017delC p.Ser1006TrpfsTer4 frameshift 0.00000825
286. 22005032 c.2768delA p.Lys923ArgfsTer10 frameshift 0.00000828
287. 22005094 c.2706delA p.Asp903MetfsTer12 frameshift 0.00000829
288. 22025653 c.2104delA p.Met702Ter frameshift 0.00000824
289. 22040843 c.1828_1829delTT p.Leu610GlufsTer2 frameshift 0.00000829
290. 22048210 c.1658dupC p.Thr554TyrfsTer54 frameshift 0.00000832
291. 22063138 c.1273_1274delAT p.Met425ValfsTer8 frameshift 0.00000825
292. 22065869 c.948_949delTT p.Cys317TyrfsTer10 frameshift 0.00000825
293. 22086828 c.172dupA p.Ile58AsnfsTer13 frameshift 0.00000824
294. 22089608 c.1delA p.Met1? frameshift 0.00000830

* 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.