ABCC9 missense variants in ExAC

ABCC9 gene summary
ABCC9 variants in DCM

The table below lists the ABCC9 missense 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. 22017410 c.2200G>A p.V734I missense 0.00701484●●●●●●
2. 21995312 c.3409G>A p.V1137I missense 0.00222515●●●●●●
3. 22028630 c.2050G>A p.G684S missense 0.00097438●●●●●●
4. 22035731 c.1988G>A p.R663H missense 0.00020609●●●●●●
5. 21967587 c.4093A>G p.I1365V missense 0.00019038●●●●●●
6. 22028599 c.2081G>A p.R694Q missense 0.00017446●●●●●●
7. 22040784 c.1887G>T p.E629D missense 0.00014898●●●●●●
8. 21998706 c.2927A>T p.K976I missense 0.00011559●●●●●●
9. 21997457 c.3275T>G p.I1092S missense 0.00010725●●●●●●
10. 21981967 c.3594G>A p.M1198I missense 0.00010708●●●●●●
11. 21958242 c.4516C>T p.R1506C missense 0.00010040●●●●●●
12. 22078977 c.305T>C p.L102P missense 0.00009061●●●●●●
13. 21981972 c.3589C>T p.R1197C missense 0.00009061●●●●●●
14. 21958155 c.4603G>A p.A1535T missense 0.00007421●●●●●●
15. 22035732 c.1987C>T p.R663C missense 0.00007419●●●●●●
16. 22040762 c.1909G>A p.V637I missense 0.00006625●●●●●●
17. 22063795 c.1129A>G p.I377V missense 0.00006599●●●●●●
18. 22035726 c.1993G>A p.A665T missense 0.00006595●●●●●●
19. 22028594 c.2086C>T p.P696S missense 0.00005814●●●●●●
20. 22017388 c.2222T>C p.F741S missense 0.00005801●●●●●●
21. 21958167 c.4591C>T p.P1531S missense 0.00005775●●●●●●
22. 22035740 c.1979G>A p.R660Q missense 0.00005770●●●●●●
23. 21958221 c.4537G>A p.A1513T missense 0.00004974●●●●●●
24. 21958154 c.4604C>A p.A1535D missense 0.00004947●●●●●●
25. 22078945 c.337G>A p.V113I missense 0.00004942●●●●●●
26. 22035792 c.1927A>C p.N643H missense 0.00004123●●●●●●
27. 22035738 c.1981C>T p.R661C missense 0.00004121●●●●●●
28. 22086785 c.215G>A p.R72K missense 0.00004121●●●●●●
29. 22005315 c.2630C>T p.T877M missense 0.00004121●●●●●●
30. 22025566 c.2191T>G p.W731G missense 0.00004119●●●●●●
31. 22061137 c.1329G>A p.M443I missense 0.00003342●●●●●●
32. 21998563 c.3070A>G p.I1024V missense 0.00003318●●●●●●
33. 22040812 c.1859G>A p.R620Q missense 0.00003311●●●●●●
34. 22001093 c.2857G>A p.E953K missense 0.00003306●●●●●●
35. 22063861 c.1063G>T p.A355S missense 0.00003305●●●●●●
36. 22001166 c.2784C>G p.D928E missense 0.00003305●●●●●●
37. 22059075 c.1603T>C p.Y535H missense 0.00003303●●●●●●
38. 22063842 c.1082C>G p.A361G missense 0.00003303●●●●●●
39. 21968807 c.3913C>T p.H1305Y missense 0.00003298●●●●●●
40. 21958127 c.4631T>C p.L1544S missense 0.00003297●●●●●●
41. 22069947 c.497G>A p.R166H missense 0.00003296●●●●●●
42. 22078995 c.287G>A p.R96Q missense 0.00003295●●●●●●
43. 22015935 c.2291C>T p.A764V missense 0.00002492●●●●●●
44. 22089560 c.49G>A p.D17N missense 0.00002484●●●●●●
45. 22063105 c.1306G>A p.A436T missense 0.00002484●●●●●●
46. 21998572 c.3061G>A p.E1021K missense 0.00002484●●●●●●
47. 22065975 c.842G>A p.R281Q missense 0.00002479●●●●●●
48. 21998701 c.2932C>A p.P978T missense 0.00002477●●●●●●
49. 21960410 c.4319C>T p.A1440V missense 0.00002476●●●●●●
50. 21998682 c.2951G>A p.R984H missense 0.00002476●●●●●●
51. 21997457 c.3275T>A p.I1092N missense 0.00002475●●●●●●
52. 22063773 c.1151G>A p.R384H missense 0.00002474●●●●●●
53. 22012525 c.2500T>C p.F834L missense 0.00002473●●●●●●
54. 22035719 c.2000C>T p.T667I missense 0.00002473●●●●●●
55. 22069987 c.457G>A p.V153I missense 0.00002472●●●●●●
56. 22070007 c.437T>A p.I146N missense 0.00002472●●●●●●
57. 22025599 c.2158G>A p.G720S missense 0.00002471●●●●●●
58. 22025567 c.2190C>A p.H730Q missense 0.00002471●●●●●●
59. 21958241 c.4517G>A p.R1506H missense 0.00001672●●●●●●
60. 22061066 c.1400C>T p.A467V missense 0.00001671●●●●●●
61. 22015914 c.2312C>T p.T771I missense 0.00001666●●●●●●
62. 21998553 c.3080C>T p.T1027I missense 0.00001665●●●●●●
63. 21962846 c.4255T>C p.W1419R missense 0.00001659●●●●●●
64. 22040854 c.1817A>C p.N606T missense 0.00001658●●●●●●
65. 22005078 c.2722G>A p.E908K missense 0.00001658●●●●●●
66. 22017398 c.2212G>A p.E738K missense 0.00001657●●●●●●
67. 21958214 c.4544T>G p.L1515R missense 0.00001656●●●●●●
68. 22040822 c.1849G>A p.D617N missense 0.00001656●●●●●●
69. 22040797 c.1874C>T p.S625L missense 0.00001655●●●●●●
70. 22063873 c.1051G>T p.A351S missense 0.00001654●●●●●●
71. 22065948 c.869A>T p.Y290F missense 0.00001651●●●●●●
72. 22001134 c.2816G>A p.R939Q missense 0.00001651●●●●●●
73. 22063159 c.1252G>A p.A418T missense 0.00001651●●●●●●
74. 21997449 c.3283C>T p.R1095C missense 0.00001650●●●●●●
75. 21965044 c.4150A>G p.T1384A missense 0.00001650●●●●●●
76. 21998650 c.2983A>G p.I995V missense 0.00001650●●●●●●
77. 21965047 c.4147C>T p.H1383Y missense 0.00001650●●●●●●
78. 21997433 c.3299C>G p.T1100S missense 0.00001650●●●●●●
79. 22086744 c.256G>C p.E86Q missense 0.00001649●●●●●●
80. 22035741 c.1978C>T p.R660W missense 0.00001649●●●●●●
81. 22035776 c.1943G>A p.G648E missense 0.00001649●●●●●●
82. 22035798 c.1921A>G p.T641A missense 0.00001649●●●●●●
83. 22068675 c.743T>C p.I248T missense 0.00001649●●●●●●
84. 22035777 c.1942G>C p.G648R missense 0.00001649●●●●●●
85. 21968764 c.3956T>G p.V1319G missense 0.00001649●●●●●●
86. 22035737 c.1982G>A p.R661H missense 0.00001649●●●●●●
87. 21981971 c.3590G>A p.R1197H missense 0.00001648●●●●●●
88. 21971085 c.3770C>T p.T1257M missense 0.00001648●●●●●●
89. 21997725 c.3221A>G p.N1074S missense 0.00001648●●●●●●
90. 22025602 c.2155C>T p.L719F missense 0.00001647●●●●●●
91. 21981893 c.3668C>T p.T1223M missense 0.00001647●●●●●●
92. 22025560 c.2197A>G p.N733D missense 0.00001647●●●●●●
93. 22078957 c.325G>A p.V109M missense 0.00001647●●●●●●
94. 22078993 c.289C>T p.R97W missense 0.00001647●●●●●●
95. 22025586 c.2171C>T p.T724I missense 0.00001647●●●●●●
96. 21995255 c.3466G>A p.A1156T missense 0.00000871●●●●●●
97. 21995260 c.3461G>C p.R1154P missense 0.00000858●●●●●●
98. 22061015 c.1451C>T p.T484I missense 0.00000850●●●●●●
99. 21998538 c.3095A>C p.Q1032P missense 0.00000846●●●●●●
100. 22089507 c.102T>A p.H34Q missense 0.00000837●●●●●●
101. 22068843 c.575G>A p.R192K missense 0.00000837●●●●●●
102. 22061143 c.1323C>G p.I441M missense 0.00000836●●●●●●
103. 22028650 c.2030G>T p.G677V missense 0.00000836●●●●●●
104. 22061144 c.1322T>A p.I441N missense 0.00000836●●●●●●
105. 22015984 c.2242A>G p.N748D missense 0.00000836●●●●●●
106. 22068842 c.576A>T p.R192S missense 0.00000836●●●●●●
107. 22061070 c.1396C>T p.L466F missense 0.00000835●●●●●●
108. 22015981 c.2245A>T p.R749W missense 0.00000835●●●●●●
109. 22068838 c.580G>A p.V194I missense 0.00000835●●●●●●
110. 21998743 c.2890G>A p.D964N missense 0.00000835●●●●●●
111. 22015911 c.2315T>C p.F772S missense 0.00000834●●●●●●
112. 22061102 c.1364G>C p.S455T missense 0.00000833●●●●●●
113. 22028635 c.2045G>A p.G682D missense 0.00000833●●●●●●
114. 22089521 c.88A>G p.N30D missense 0.00000832●●●●●●
115. 22065997 c.820A>G p.K274E missense 0.00000831●●●●●●
116. 21998557 c.3076A>G p.N1026D missense 0.00000831●●●●●●
117. 22015936 c.2290G>A p.A764T missense 0.00000831●●●●●●
118. 21962870 c.4231T>C p.C1411R missense 0.00000831●●●●●●
119. 22015926 c.2300A>G p.E767G missense 0.00000831●●●●●●
120. 21998739 c.2894A>G p.D965G missense 0.00000831●●●●●●
121. 22028590 c.2090C>G p.T697R missense 0.00000831●●●●●●
122. 22015933 c.2293A>G p.T765A missense 0.00000831●●●●●●
123. 22028608 c.2072T>C p.I691T missense 0.00000831●●●●●●
124. 22017373 c.2237G>A p.S746N missense 0.00000830●●●●●●
125. 22089532 c.77T>C p.V26A missense 0.00000830●●●●●●
126. 22089533 c.76G>A p.V26M missense 0.00000830●●●●●●
127. 22063091 c.1320G>C p.Q440H missense 0.00000830●●●●●●
128. 22005134 c.2666G>A p.S889N missense 0.00000829●●●●●●
129. 22063099 c.1312C>A p.P438T missense 0.00000829●●●●●●
130. 22040854 c.1817A>G p.N606S missense 0.00000829●●●●●●
131. 22005141 c.2659G>C p.D887H missense 0.00000829●●●●●●
132. 22005099 c.2701A>C p.T901P missense 0.00000829●●●●●●
133. 21958223 c.4535A>G p.D1512G missense 0.00000829●●●●●●
134. 22063911 c.1013T>C p.I338T missense 0.00000829●●●●●●
135. 21967582 c.4098T>G p.F1366L missense 0.00000829●●●●●●
136. 22040792 c.1879C>G p.P627A missense 0.00000828●●●●●●
137. 21958211 c.4547T>C p.V1516A missense 0.00000828●●●●●●
138. 22089583 c.26A>G p.N9S missense 0.00000828●●●●●●
139. 21967585 c.4095A>G p.I1365M missense 0.00000828●●●●●●
140. 22005439 c.2506G>A p.D836N missense 0.00000828●●●●●●
141. 22065991 c.826G>A p.A276T missense 0.00000828●●●●●●
142. 22068798 c.620A>G p.D207G missense 0.00000828●●●●●●
143. 21998571 c.3062A>T p.E1021V missense 0.00000828●●●●●●
144. 22089562 c.47A>G p.N16S missense 0.00000828●●●●●●
145. 22005152 c.2648T>C p.I883T missense 0.00000828●●●●●●
146. 22089572 c.37T>C p.Y13H missense 0.00000828●●●●●●
147. 22005043 c.2757A>C p.Q919H missense 0.00000828●●●●●●
148. 22001088 c.2862C>G p.D954E missense 0.00000827●●●●●●
149. 21958973 c.4471G>A p.V1491I missense 0.00000827●●●●●●
150. 21958187 c.4571T>C p.L1524S missense 0.00000827●●●●●●
151. 22001180 c.2770G>A p.D924N missense 0.00000827●●●●●●
152. 21967594 c.4086G>A p.M1362I missense 0.00000827●●●●●●
153. 21958203 c.4555T>A p.F1519I missense 0.00000827●●●●●●
154. 21970216 c.3797T>C p.V1266A missense 0.00000827●●●●●●
155. 22001168 c.2782G>A p.D928N missense 0.00000826●●●●●●
156. 22065847 c.970C>T p.R324C missense 0.00000826●●●●●●
157. 21998718 c.2915G>A p.R972K missense 0.00000826●●●●●●
158. 21958955 c.4489G>C p.D1497H missense 0.00000826●●●●●●
159. 22065964 c.853A>T p.I285L missense 0.00000826●●●●●●
160. 21970126 c.3887C>T p.T1296I missense 0.00000826●●●●●●
161. 22001171 c.2779G>T p.A927S missense 0.00000826●●●●●●
162. 22001120 c.2830A>G p.R944G missense 0.00000826●●●●●●
163. 22065819 c.998A>T p.N333I missense 0.00000826●●●●●●
164. 21965083 c.4111G>A p.V1371I missense 0.00000826●●●●●●
165. 22065964 c.853A>G p.I285V missense 0.00000826●●●●●●
166. 22059069 c.1609T>A p.S537T missense 0.00000826●●●●●●
167. 22065950 c.867G>A p.M289I missense 0.00000826●●●●●●
168. 22065976 c.841C>T p.R281W missense 0.00000826●●●●●●
169. 22063774 c.1150C>T p.R384C missense 0.00000825●●●●●●
170. 22013954 c.2375C>T p.P792L missense 0.00000825●●●●●●
171. 21971181 c.3674A>G p.Y1225C missense 0.00000825●●●●●●
172. 21968711 c.4009A>G p.K1337E missense 0.00000825●●●●●●
173. 22063797 c.1127C>T p.T376I missense 0.00000825●●●●●●
174. 22035714 c.2005G>C p.D669H missense 0.00000825●●●●●●
175. 21965026 c.4168T>C p.S1390P missense 0.00000825●●●●●●
176. 22063812 c.1112C>G p.A371G missense 0.00000825●●●●●●
177. 21958178 c.4580G>A p.C1527Y missense 0.00000825●●●●●●
178. 22063133 c.1278G>T p.W426C missense 0.00000825●●●●●●
179. 21968771 c.3949C>G p.L1317V missense 0.00000825●●●●●●
180. 21965068 c.4126G>A p.D1376N missense 0.00000825●●●●●●
181. 22065933 c.884G>A p.R295Q missense 0.00000825●●●●●●
182. 22063777 c.1147C>T p.L383F missense 0.00000825●●●●●●
183. 21991021 c.3557G>A p.R1186Q missense 0.00000825●●●●●●
184. 21958148 c.4610A>G p.K1537R missense 0.00000825●●●●●●
185. 22035717 c.2002G>A p.E668K missense 0.00000825●●●●●●
186. 21998692 c.2941A>G p.T981A missense 0.00000825●●●●●●
187. 21965038 c.4156C>T p.R1386C missense 0.00000825●●●●●●
188. 22001135 c.2815C>T p.R939W missense 0.00000825●●●●●●
189. 21997417 c.3315G>C p.Q1105H missense 0.00000825●●●●●●
190. 22065880 c.937G>A p.A313T missense 0.00000825●●●●●●
191. 22063137 c.1274T>C p.M425T missense 0.00000825●●●●●●
192. 22013961 c.2368C>T p.L790F missense 0.00000825●●●●●●
193. 22047092 c.1676C>T p.A559V missense 0.00000825●●●●●●
194. 21960404 c.4325T>C p.V1442A missense 0.00000825●●●●●●
195. 22063782 c.1142T>A p.I381N missense 0.00000825●●●●●●
196. 21991099 c.3479T>G p.L1160R missense 0.00000825●●●●●●
197. 21958155 c.4603G>T p.A1535S missense 0.00000825●●●●●●
198. 21970150 c.3863T>C p.M1288T missense 0.00000825●●●●●●
199. 21968774 c.3946G>C p.D1316H missense 0.00000825●●●●●●
200. 21998695 c.2938A>G p.K980E missense 0.00000825●●●●●●
201. 22065906 c.911G>A p.R304H missense 0.00000825●●●●●●
202. 21997428 c.3304A>G p.I1102V missense 0.00000825●●●●●●
203. 22068735 c.683A>C p.Y228S missense 0.00000825●●●●●●
204. 22013937 c.2392C>A p.P798T missense 0.00000825●●●●●●
205. 22013972 c.2357A>G p.D786G missense 0.00000825●●●●●●
206. 22086716 c.284C>T p.S95L missense 0.00000825●●●●●●
207. 22063158 c.1253C>T p.A418V missense 0.00000825●●●●●●
208. 22063794 c.1130T>C p.I377T missense 0.00000825●●●●●●
209. 22035714 c.2005G>A p.D669N missense 0.00000825●●●●●●
210. 21958158 c.4600C>T p.L1534F missense 0.00000825●●●●●●
211. 22001137 c.2813G>A p.R938Q missense 0.00000825●●●●●●
212. 22063116 c.1295C>A p.P432H missense 0.00000825●●●●●●
213. 21968777 c.3943C>T p.H1315Y missense 0.00000825●●●●●●
214. 21998691 c.2942C>A p.T981N missense 0.00000825●●●●●●
215. 21960407 c.4322T>C p.V1441A missense 0.00000825●●●●●●
216. 21998698 c.2935T>C p.W979R missense 0.00000825●●●●●●
217. 22065910 c.907T>C p.F303L missense 0.00000825●●●●●●
218. 21998683 c.2950C>T p.R984C missense 0.00000825●●●●●●
219. 21981989 c.3572A>G p.E1191G missense 0.00000824●●●●●●
220. 21981959 c.3602T>G p.L1201R missense 0.00000824●●●●●●
221. 22005304 c.2641T>C p.W881R missense 0.00000824●●●●●●
222. 21968827 c.3893A>T p.D1298V missense 0.00000824●●●●●●
223. 22005359 c.2586C>G p.D862E missense 0.00000824●●●●●●
224. 22070015 c.429G>A p.M143I missense 0.00000824●●●●●●
225. 22035780 c.1939C>G p.P647A missense 0.00000824●●●●●●
226. 22035771 c.1948T>C p.Y650H missense 0.00000824●●●●●●
227. 22012564 c.2461T>A p.C821S missense 0.00000824●●●●●●
228. 21981899 c.3662T>C p.V1221A missense 0.00000824●●●●●●
229. 21958124 c.4634T>C p.V1545A missense 0.00000824●●●●●●
230. 22078939 c.343A>G p.T115A missense 0.00000824●●●●●●
231. 21968806 c.3914A>G p.H1305R missense 0.00000824●●●●●●
232. 22068690 c.728T>C p.I243T missense 0.00000824●●●●●●
233. 22025655 c.2102C>A p.T701N missense 0.00000824●●●●●●
234. 21997726 c.3220A>G p.N1074D missense 0.00000824●●●●●●
235. 21960377 c.4352T>C p.V1451A missense 0.00000824●●●●●●
236. 21971127 c.3728C>T p.S1243L missense 0.00000824●●●●●●
237. 22005307 c.2638G>T p.D880Y missense 0.00000824●●●●●●
238. 22068609 c.809A>C p.E270A missense 0.00000824●●●●●●
239. 21968726 c.3994G>A p.V1332I missense 0.00000824●●●●●●
240. 22078891 c.391C>T p.P131S missense 0.00000824●●●●●●
241. 22035780 c.1939C>T p.P647S missense 0.00000824●●●●●●
242. 22068624 c.794A>G p.K265R missense 0.00000824●●●●●●
243. 21997708 c.3238C>T p.P1080S missense 0.00000824●●●●●●
244. 22012570 c.2455A>G p.R819G missense 0.00000824●●●●●●
245. 21981911 c.3650G>C p.R1217T missense 0.00000824●●●●●●
246. 22086797 c.203G>A p.G68E missense 0.00000824●●●●●●
247. 22078996 c.286C>T p.R96W missense 0.00000824●●●●●●
248. 22035747 c.1972T>C p.S658P missense 0.00000824●●●●●●
249. 21958145 c.4613A>G p.N1538S missense 0.00000824●●●●●●
250. 21997758 c.3188C>T p.T1063I missense 0.00000824●●●●●●
251. 21981978 c.3583A>G p.K1195E missense 0.00000824●●●●●●
252. 22012554 c.2471G>A p.R824Q missense 0.00000824●●●●●●
253. 21971148 c.3707T>C p.I1236T missense 0.00000824●●●●●●
254. 22068654 c.764T>C p.M255T missense 0.00000824●●●●●●
255. 21968759 c.3961T>C p.Y1321H missense 0.00000824●●●●●●
256. 22078953 c.329T>A p.M110K missense 0.00000824●●●●●●
257. 22078911 c.371A>G p.N124S missense 0.00000824●●●●●●
258. 21981945 c.3616A>T p.N1206Y missense 0.00000824●●●●●●
259. 21958131 c.4627A>C p.T1543P missense 0.00000824●●●●●●
260. 21968765 c.3955G>A p.V1319I missense 0.00000824●●●●●●
261. 22086800 c.200C>T p.P67L missense 0.00000824●●●●●●
262. 22005313 c.2632C>T p.H878Y missense 0.00000824●●●●●●
263. 21968816 c.3904G>T p.V1302F missense 0.00000824●●●●●●
264. 22035764 c.1955T>G p.L652R missense 0.00000824●●●●●●
265. 22035777 c.1942G>A p.G648R missense 0.00000824●●●●●●
266. 21997769 c.3177G>C p.W1059C missense 0.00000824●●●●●●
267. 21960375 c.4354G>C p.G1452R missense 0.00000824●●●●●●
268. 22012560 c.2465T>C p.V822A missense 0.00000824●●●●●●
269. 21971149 c.3706A>G p.I1236V missense 0.00000824●●●●●●
270. 22069925 c.519G>T p.M173I missense 0.00000824●●●●●●
271. 22035793 c.1926A>G p.I642M missense 0.00000824●●●●●●
272. 22078927 c.355A>G p.I119V missense 0.00000824●●●●●●
273. 22005346 c.2599G>A p.V867I missense 0.00000824●●●●●●
274. 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.