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