ABCC9 non-truncating variants in ExAC

ABCC9 gene summary
ABCC9 variants in DCM

The table below lists the ABCC9 non-truncating 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 frequency▼Populations*
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. 22017388 c.2222T>C p.F741S missense 0.00005801●●●●●●
10. 21958167 c.4591C>T p.P1531S missense 0.00005775●●●●●●
11. 22035740 c.1979G>A p.R660Q missense 0.00005770●●●●●●
12. 21958221 c.4537G>A p.A1513T missense 0.00004974●●●●●●
13. 21958154 c.4604C>A p.A1535D missense 0.00004947●●●●●●
14. 22078945 c.337G>A p.V113I missense 0.00004942●●●●●●
15. 22035792 c.1927A>C p.N643H missense 0.00004123●●●●●●
16. 22035738 c.1981C>T p.R661C missense 0.00004121●●●●●●
17. 22005315 c.2630C>T p.T877M missense 0.00004121●●●●●●
18. 22086785 c.215G>A p.R72K missense 0.00004121●●●●●●
19. 22025566 c.2191T>G p.W731G missense 0.00004119●●●●●●
20. 22061137 c.1329G>A p.M443I missense 0.00003342●●●●●●
21. 21998563 c.3070A>G p.I1024V missense 0.00003318●●●●●●
22. 22040812 c.1859G>A p.R620Q missense 0.00003311●●●●●●
23. 22001093 c.2857G>A p.E953K missense 0.00003306●●●●●●
24. 22001166 c.2784C>G p.D928E missense 0.00003305●●●●●●
25. 22063861 c.1063G>T p.A355S missense 0.00003305●●●●●●
26. 22063842 c.1082C>G p.A361G missense 0.00003303●●●●●●
27. 22059075 c.1603T>C p.Y535H missense 0.00003303●●●●●●
28. 21968807 c.3913C>T p.H1305Y missense 0.00003298●●●●●●
29. 21958127 c.4631T>C p.L1544S missense 0.00003297●●●●●●
30. 22069947 c.497G>A p.R166H missense 0.00003296●●●●●●
31. 22078995 c.287G>A p.R96Q missense 0.00003295●●●●●●
32. 22015935 c.2291C>T p.A764V missense 0.00002492●●●●●●
33. 22063105 c.1306G>A p.A436T missense 0.00002484●●●●●●
34. 21998572 c.3061G>A p.E1021K missense 0.00002484●●●●●●
35. 22089560 c.49G>A p.D17N missense 0.00002484●●●●●●
36. 22065975 c.842G>A p.R281Q missense 0.00002479●●●●●●
37. 21998701 c.2932C>A p.P978T missense 0.00002477●●●●●●
38. 21998682 c.2951G>A p.R984H missense 0.00002476●●●●●●
39. 21960410 c.4319C>T p.A1440V missense 0.00002476●●●●●●
40. 21997457 c.3275T>A p.I1092N missense 0.00002475●●●●●●
41. 22063773 c.1151G>A p.R384H missense 0.00002474●●●●●●
42. 22012525 c.2500T>C p.F834L missense 0.00002473●●●●●●
43. 22035719 c.2000C>T p.T667I missense 0.00002473●●●●●●
44. 22069987 c.457G>A p.V153I missense 0.00002472●●●●●●
45. 22070007 c.437T>A p.I146N missense 0.00002472●●●●●●
46. 22025567 c.2190C>A p.H730Q missense 0.00002471●●●●●●
47. 22025599 c.2158G>A p.G720S missense 0.00002471●●●●●●
48. 21958241 c.4517G>A p.R1506H missense 0.00001672●●●●●●
49. 22061066 c.1400C>T p.A467V missense 0.00001671●●●●●●
50. 22015914 c.2312C>T p.T771I missense 0.00001666●●●●●●
51. 21998553 c.3080C>T p.T1027I missense 0.00001665●●●●●●
52. 21962846 c.4255T>C p.W1419R missense 0.00001659●●●●●●
53. 22005078 c.2722G>A p.E908K missense 0.00001658●●●●●●
54. 22040854 c.1817A>C p.N606T missense 0.00001658●●●●●●
55. 22017398 c.2212G>A p.E738K missense 0.00001657●●●●●●
56. 22040822 c.1849G>A p.D617N missense 0.00001656●●●●●●
57. 21958214 c.4544T>G p.L1515R missense 0.00001656●●●●●●
58. 22040797 c.1874C>T p.S625L missense 0.00001655●●●●●●
59. 22063873 c.1051G>T p.A351S missense 0.00001654●●●●●●
60. 22065948 c.869A>T p.Y290F missense 0.00001651●●●●●●
61. 22001134 c.2816G>A p.R939Q missense 0.00001651●●●●●●
62. 22063159 c.1252G>A p.A418T missense 0.00001651●●●●●●
63. 21965044 c.4150A>G p.T1384A missense 0.00001650●●●●●●
64. 21997433 c.3299C>G p.T1100S missense 0.00001650●●●●●●
65. 21965047 c.4147C>T p.H1383Y missense 0.00001650●●●●●●
66. 21997449 c.3283C>T p.R1095C missense 0.00001650●●●●●●
67. 21998650 c.2983A>G p.I995V missense 0.00001650●●●●●●
68. 21968764 c.3956T>G p.V1319G missense 0.00001649●●●●●●
69. 22086744 c.256G>C p.E86Q missense 0.00001649●●●●●●
70. 22035741 c.1978C>T p.R660W missense 0.00001649●●●●●●
71. 22035776 c.1943G>A p.G648E missense 0.00001649●●●●●●
72. 22035798 c.1921A>G p.T641A missense 0.00001649●●●●●●
73. 22035777 c.1942G>C p.G648R missense 0.00001649●●●●●●
74. 22068675 c.743T>C p.I248T missense 0.00001649●●●●●●
75. 22035737 c.1982G>A p.R661H missense 0.00001649●●●●●●
76. 21981971 c.3590G>A p.R1197H missense 0.00001648●●●●●●
77. 21997725 c.3221A>G p.N1074S missense 0.00001648●●●●●●
78. 21971085 c.3770C>T p.T1257M missense 0.00001648●●●●●●
79. 21981893 c.3668C>T p.T1223M missense 0.00001647●●●●●●
80. 22025560 c.2197A>G p.N733D missense 0.00001647●●●●●●
81. 22078993 c.289C>T p.R97W missense 0.00001647●●●●●●
82. 22025602 c.2155C>T p.L719F missense 0.00001647●●●●●●
83. 22025586 c.2171C>T p.T724I missense 0.00001647●●●●●●
84. 22078957 c.325G>A p.V109M missense 0.00001647●●●●●●
85. 21995255 c.3466G>A p.A1156T missense 0.00000871●●●●●●
86. 21995260 c.3461G>C p.R1154P missense 0.00000858●●●●●●
87. 22061015 c.1451C>T p.T484I missense 0.00000850●●●●●●
88. 21998538 c.3095A>C p.Q1032P missense 0.00000846●●●●●●
89. 22089507 c.102T>A p.H34Q missense 0.00000837●●●●●●
90. 22068843 c.575G>A p.R192K missense 0.00000837●●●●●●
91. 22061143 c.1323C>G p.I441M missense 0.00000836●●●●●●
92. 22028650 c.2030G>T p.G677V missense 0.00000836●●●●●●
93. 22061144 c.1322T>A p.I441N missense 0.00000836●●●●●●
94. 22015984 c.2242A>G p.N748D missense 0.00000836●●●●●●
95. 22068842 c.576A>T p.R192S missense 0.00000836●●●●●●
96. 22015981 c.2245A>T p.R749W missense 0.00000835●●●●●●
97. 22068838 c.580G>A p.V194I missense 0.00000835●●●●●●
98. 22061070 c.1396C>T p.L466F missense 0.00000835●●●●●●
99. 21998743 c.2890G>A p.D964N missense 0.00000835●●●●●●
100. 22015911 c.2315T>C p.F772S missense 0.00000834●●●●●●
101. 22061102 c.1364G>C p.S455T missense 0.00000833●●●●●●
102. 22028635 c.2045G>A p.G682D missense 0.00000833●●●●●●
103. 22089521 c.88A>G p.N30D missense 0.00000832●●●●●●
104. 22015926 c.2300A>G p.E767G missense 0.00000831●●●●●●
105. 21998557 c.3076A>G p.N1026D missense 0.00000831●●●●●●
106. 21998739 c.2894A>G p.D965G missense 0.00000831●●●●●●
107. 22028590 c.2090C>G p.T697R missense 0.00000831●●●●●●
108. 21962870 c.4231T>C p.C1411R missense 0.00000831●●●●●●
109. 22015933 c.2293A>G p.T765A missense 0.00000831●●●●●●
110. 22028608 c.2072T>C p.I691T missense 0.00000831●●●●●●
111. 22065997 c.820A>G p.K274E missense 0.00000831●●●●●●
112. 22015936 c.2290G>A p.A764T missense 0.00000831●●●●●●
113. 22089532 c.77T>C p.V26A missense 0.00000830●●●●●●
114. 22089533 c.76G>A p.V26M missense 0.00000830●●●●●●
115. 22063091 c.1320G>C p.Q440H missense 0.00000830●●●●●●
116. 22017373 c.2237G>A p.S746N missense 0.00000830●●●●●●
117. 22040854 c.1817A>G p.N606S missense 0.00000829●●●●●●
118. 21958223 c.4535A>G p.D1512G missense 0.00000829●●●●●●
119. 22005141 c.2659G>C p.D887H missense 0.00000829●●●●●●
120. 21967582 c.4098T>G p.F1366L missense 0.00000829●●●●●●
121. 22063911 c.1013T>C p.I338T missense 0.00000829●●●●●●
122. 22005099 c.2701A>C p.T901P missense 0.00000829●●●●●●
123. 22005134 c.2666G>A p.S889N missense 0.00000829●●●●●●
124. 22063099 c.1312C>A p.P438T missense 0.00000829●●●●●●
125. 22005439 c.2506G>A p.D836N missense 0.00000828●●●●●●
126. 22040792 c.1879C>G p.P627A missense 0.00000828●●●●●●
127. 22089562 c.47A>G p.N16S missense 0.00000828●●●●●●
128. 22065991 c.826G>A p.A276T missense 0.00000828●●●●●●
129. 21998571 c.3062A>T p.E1021V missense 0.00000828●●●●●●
130. 21958211 c.4547T>C p.V1516A missense 0.00000828●●●●●●
131. 22005152 c.2648T>C p.I883T missense 0.00000828●●●●●●
132. 21967585 c.4095A>G p.I1365M missense 0.00000828●●●●●●
133. 22068798 c.620A>G p.D207G missense 0.00000828●●●●●●
134. 22089572 c.37T>C p.Y13H missense 0.00000828●●●●●●
135. 22005043 c.2757A>C p.Q919H missense 0.00000828●●●●●●
136. 22089583 c.26A>G p.N9S missense 0.00000828●●●●●●
137. 21958203 c.4555T>A p.F1519I missense 0.00000827●●●●●●
138. 22001180 c.2770G>A p.D924N missense 0.00000827●●●●●●
139. 22001088 c.2862C>G p.D954E missense 0.00000827●●●●●●
140. 21967594 c.4086G>A p.M1362I missense 0.00000827●●●●●●
141. 21958973 c.4471G>A p.V1491I missense 0.00000827●●●●●●
142. 21958187 c.4571T>C p.L1524S missense 0.00000827●●●●●●
143. 21970216 c.3797T>C p.V1266A missense 0.00000827●●●●●●
144. 22001171 c.2779G>T p.A927S missense 0.00000826●●●●●●
145. 21998718 c.2915G>A p.R972K missense 0.00000826●●●●●●
146. 22001120 c.2830A>G p.R944G missense 0.00000826●●●●●●
147. 21970126 c.3887C>T p.T1296I missense 0.00000826●●●●●●
148. 22059069 c.1609T>A p.S537T missense 0.00000826●●●●●●
149. 22065964 c.853A>G p.I285V missense 0.00000826●●●●●●
150. 22065976 c.841C>T p.R281W missense 0.00000826●●●●●●
151. 22065950 c.867G>A p.M289I missense 0.00000826●●●●●●
152. 21958955 c.4489G>C p.D1497H missense 0.00000826●●●●●●
153. 22001168 c.2782G>A p.D928N missense 0.00000826●●●●●●
154. 22065819 c.998A>T p.N333I missense 0.00000826●●●●●●
155. 21965083 c.4111G>A p.V1371I missense 0.00000826●●●●●●
156. 22065964 c.853A>T p.I285L missense 0.00000826●●●●●●
157. 22065847 c.970C>T p.R324C missense 0.00000826●●●●●●
158. 22063797 c.1127C>T p.T376I missense 0.00000825●●●●●●
159. 21968777 c.3943C>T p.H1315Y missense 0.00000825●●●●●●
160. 21998692 c.2941A>G p.T981A missense 0.00000825●●●●●●
161. 22065933 c.884G>A p.R295Q missense 0.00000825●●●●●●
162. 22063777 c.1147C>T p.L383F missense 0.00000825●●●●●●
163. 22013961 c.2368C>T p.L790F missense 0.00000825●●●●●●
164. 21998683 c.2950C>T p.R984C missense 0.00000825●●●●●●
165. 21968711 c.4009A>G p.K1337E missense 0.00000825●●●●●●
166. 22035717 c.2002G>A p.E668K missense 0.00000825●●●●●●
167. 22065880 c.937G>A p.A313T missense 0.00000825●●●●●●
168. 21958148 c.4610A>G p.K1537R missense 0.00000825●●●●●●
169. 21958158 c.4600C>T p.L1534F missense 0.00000825●●●●●●
170. 21971181 c.3674A>G p.Y1225C missense 0.00000825●●●●●●
171. 22063137 c.1274T>C p.M425T missense 0.00000825●●●●●●
172. 21968771 c.3949C>G p.L1317V missense 0.00000825●●●●●●
173. 22047092 c.1676C>T p.A559V missense 0.00000825●●●●●●
174. 21998695 c.2938A>G p.K980E missense 0.00000825●●●●●●
175. 22001135 c.2815C>T p.R939W missense 0.00000825●●●●●●
176. 22013972 c.2357A>G p.D786G missense 0.00000825●●●●●●
177. 22063782 c.1142T>A p.I381N missense 0.00000825●●●●●●
178. 21991021 c.3557G>A p.R1186Q missense 0.00000825●●●●●●
179. 22035714 c.2005G>A p.D669N missense 0.00000825●●●●●●
180. 21965026 c.4168T>C p.S1390P missense 0.00000825●●●●●●
181. 21958178 c.4580G>A p.C1527Y missense 0.00000825●●●●●●
182. 22065906 c.911G>A p.R304H missense 0.00000825●●●●●●
183. 21997417 c.3315G>C p.Q1105H missense 0.00000825●●●●●●
184. 22063158 c.1253C>T p.A418V missense 0.00000825●●●●●●
185. 22063116 c.1295C>A p.P432H missense 0.00000825●●●●●●
186. 22013937 c.2392C>A p.P798T missense 0.00000825●●●●●●
187. 21968774 c.3946G>C p.D1316H missense 0.00000825●●●●●●
188. 21965068 c.4126G>A p.D1376N missense 0.00000825●●●●●●
189. 22068735 c.683A>C p.Y228S missense 0.00000825●●●●●●
190. 21991099 c.3479T>G p.L1160R missense 0.00000825●●●●●●
191. 21970150 c.3863T>C p.M1288T missense 0.00000825●●●●●●
192. 22063794 c.1130T>C p.I377T missense 0.00000825●●●●●●
193. 21998698 c.2935T>C p.W979R missense 0.00000825●●●●●●
194. 22035714 c.2005G>C p.D669H missense 0.00000825●●●●●●
195. 21998691 c.2942C>A p.T981N missense 0.00000825●●●●●●
196. 21965038 c.4156C>T p.R1386C missense 0.00000825●●●●●●
197. 21997428 c.3304A>G p.I1102V missense 0.00000825●●●●●●
198. 21960407 c.4322T>C p.V1441A missense 0.00000825●●●●●●
199. 22001137 c.2813G>A p.R938Q missense 0.00000825●●●●●●
200. 22065910 c.907T>C p.F303L missense 0.00000825●●●●●●
201. 22063774 c.1150C>T p.R384C missense 0.00000825●●●●●●
202. 22063133 c.1278G>T p.W426C missense 0.00000825●●●●●●
203. 22013954 c.2375C>T p.P792L missense 0.00000825●●●●●●
204. 22086716 c.284C>T p.S95L missense 0.00000825●●●●●●
205. 21960404 c.4325T>C p.V1442A missense 0.00000825●●●●●●
206. 22063812 c.1112C>G p.A371G missense 0.00000825●●●●●●
207. 21958155 c.4603G>T p.A1535S missense 0.00000825●●●●●●
208. 22078939 c.343A>G p.T115A missense 0.00000824●●●●●●
209. 22068690 c.728T>C p.I243T missense 0.00000824●●●●●●
210. 21997726 c.3220A>G p.N1074D missense 0.00000824●●●●●●
211. 22025655 c.2102C>A p.T701N missense 0.00000824●●●●●●
212. 21958131 c.4627A>C p.T1543P missense 0.00000824●●●●●●
213. 22068609 c.809A>C p.E270A missense 0.00000824●●●●●●
214. 21981959 c.3602T>G p.L1201R missense 0.00000824●●●●●●
215. 22005307 c.2638G>T p.D880Y missense 0.00000824●●●●●●
216. 21968827 c.3893A>T p.D1298V missense 0.00000824●●●●●●
217. 22078891 c.391C>T p.P131S missense 0.00000824●●●●●●
218. 22035780 c.1939C>T p.P647S missense 0.00000824●●●●●●
219. 21960375 c.4354G>C p.G1452R missense 0.00000824●●●●●●
220. 22068624 c.794A>G p.K265R missense 0.00000824●●●●●●
221. 22012570 c.2455A>G p.R819G missense 0.00000824●●●●●●
222. 21981899 c.3662T>C p.V1221A missense 0.00000824●●●●●●
223. 22069925 c.519G>T p.M173I missense 0.00000824●●●●●●
224. 21971127 c.3728C>T p.S1243L missense 0.00000824●●●●●●
225. 22035793 c.1926A>G p.I642M missense 0.00000824●●●●●●
226. 22086797 c.203G>A p.G68E missense 0.00000824●●●●●●
227. 22078953 c.329T>A p.M110K missense 0.00000824●●●●●●
228. 21968806 c.3914A>G p.H1305R missense 0.00000824●●●●●●
229. 22035747 c.1972T>C p.S658P missense 0.00000824●●●●●●
230. 21997758 c.3188C>T p.T1063I missense 0.00000824●●●●●●
231. 22068654 c.764T>C p.M255T missense 0.00000824●●●●●●
232. 22012554 c.2471G>A p.R824Q missense 0.00000824●●●●●●
233. 22005313 c.2632C>T p.H878Y missense 0.00000824●●●●●●
234. 22078911 c.371A>G p.N124S missense 0.00000824●●●●●●
235. 21968726 c.3994G>A p.V1332I missense 0.00000824●●●●●●
236. 21958145 c.4613A>G p.N1538S missense 0.00000824●●●●●●
237. 21981911 c.3650G>C p.R1217T missense 0.00000824●●●●●●
238. 21958124 c.4634T>C p.V1545A missense 0.00000824●●●●●●
239. 22078996 c.286C>T p.R96W missense 0.00000824●●●●●●
240. 22086800 c.200C>T p.P67L missense 0.00000824●●●●●●
241. 22035764 c.1955T>G p.L652R missense 0.00000824●●●●●●
242. 21997769 c.3177G>C p.W1059C missense 0.00000824●●●●●●
243. 21960377 c.4352T>C p.V1451A missense 0.00000824●●●●●●
244. 21981978 c.3583A>G p.K1195E missense 0.00000824●●●●●●
245. 22005359 c.2586C>G p.D862E missense 0.00000824●●●●●●
246. 22012560 c.2465T>C p.V822A missense 0.00000824●●●●●●
247. 21971148 c.3707T>C p.I1236T missense 0.00000824●●●●●●
248. 22078927 c.355A>G p.I119V missense 0.00000824●●●●●●
249. 21968759 c.3961T>C p.Y1321H missense 0.00000824●●●●●●
250. 22068684 c.734T>C p.L245P missense 0.00000824●●●●●●
251. 21981945 c.3616A>T p.N1206Y missense 0.00000824●●●●●●
252. 21997708 c.3238C>T p.P1080S missense 0.00000824●●●●●●
253. 22005304 c.2641T>C p.W881R missense 0.00000824●●●●●●
254. 21968816 c.3904G>T p.V1302F missense 0.00000824●●●●●●
255. 22035771 c.1948T>C p.Y650H missense 0.00000824●●●●●●
256. 22035777 c.1942G>A p.G648R missense 0.00000824●●●●●●
257. 22005346 c.2599G>A p.V867I missense 0.00000824●●●●●●
258. 22070015 c.429G>A p.M143I missense 0.00000824●●●●●●
259. 22035780 c.1939C>G p.P647A missense 0.00000824●●●●●●
260. 21981989 c.3572A>G p.E1191G missense 0.00000824●●●●●●
261. 21968765 c.3955G>A p.V1319I missense 0.00000824●●●●●●
262. 22012564 c.2461T>A p.C821S missense 0.00000824●●●●●●
263. 21971149 c.3706A>G p.I1236V 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.