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