ABCC9 variants in ExAC

ABCC9 gene summary
ABCC9 variants in DCM

The table below lists the ABCC9 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. 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. 22017410 c.2200G>A p.V734I missense 0.00701484●●●●●●
6. 22040762 c.1909G>A p.V637I missense 0.00006625●●●●●●
7. 21958148 c.4610A>G p.K1537R missense 0.00000825●●●●●●
8. 21958167 c.4591C>T p.P1531S missense 0.00005775●●●●●●
9. 21960407 c.4322T>C p.V1441A missense 0.00000825●●●●●●
10. 21981893 c.3668C>T p.T1223M missense 0.00001647●●●●●●
11. 21995312 c.3409G>A p.V1137I missense 0.00222515●●●●●●
12. 21998682 c.2951G>A p.R984H missense 0.00002476●●●●●●
13. 21998706 c.2927A>T p.K976I missense 0.00011559●●●●●●
14. 22001093 c.2857G>A p.E953K missense 0.00003306●●●●●●
15. 22001166 c.2784C>G p.D928E missense 0.00003305●●●●●●
16. 22005134 c.2666G>A p.S889N missense 0.00000829●●●●●●
17. 22005315 c.2630C>T p.T877M missense 0.00004121●●●●●●
18. 22017388 c.2222T>C p.F741S missense 0.00005801●●●●●●
19. 22025602 c.2155C>T p.L719F missense 0.00001647●●●●●●
20. 22028630 c.2050G>A p.G684S missense 0.00097438●●●●●●
21. 22035731 c.1988G>A p.R663H missense 0.00020609●●●●●●
22. 22035740 c.1979G>A p.R660Q missense 0.00005770●●●●●●
23. 22035792 c.1927A>C p.N643H missense 0.00004123●●●●●●
24. 22040784 c.1887G>T p.E629D missense 0.00014898●●●●●●
25. 22040812 c.1859G>A p.R620Q missense 0.00003311●●●●●●
26. 22040854 c.1817A>C p.N606T missense 0.00001658●●●●●●
27. 22061137 c.1329G>A p.M443I missense 0.00003342●●●●●●
28. 22063158 c.1253C>T p.A418V missense 0.00000825●●●●●●
29. 22063861 c.1063G>T p.A355S missense 0.00003305●●●●●●
30. 22068609 c.809A>C p.E270A missense 0.00000824●●●●●●
31. 22068654 c.764T>C p.M255T missense 0.00000824●●●●●●
32. 22070007 c.437T>A p.I146N missense 0.00002472●●●●●●
33. 21997457 c.3275T>A p.I1092N missense 0.00002475●●●●●●
34. 21997708 c.3238C>T p.P1080S missense 0.00000824●●●●●●
35. 22015914 c.2312C>T p.T771I missense 0.00001666●●●●●●
36. 22028594 c.2086C>T p.P696S missense 0.00005814●●●●●●
37. 22068798 c.620A>G p.D207G missense 0.00000828●●●●●●
38. 21968765 c.3955G>A p.V1319I missense 0.00000824●●●●●●
39. 21971181 c.3674A>G p.Y1225C missense 0.00000825●●●●●●
40. 21981967 c.3594G>A p.M1198I missense 0.00010708●●●●●●
41. 21998571 c.3062A>T p.E1021V missense 0.00000828●●●●●●
42. 22001137 c.2813G>A p.R938Q missense 0.00000825●●●●●●
43. 22017398 c.2212G>A p.E738K missense 0.00001657●●●●●●
44. 22035726 c.1993G>A p.A665T missense 0.00006595●●●●●●
45. 22035732 c.1987C>T p.R663C missense 0.00007419●●●●●●
46. 22035738 c.1981C>T p.R661C missense 0.00004121●●●●●●
47. 22065991 c.826G>A p.A276T missense 0.00000828●●●●●●
48. 22068735 c.683A>C p.Y228S missense 0.00000825●●●●●●
49. 22078945 c.337G>A p.V113I missense 0.00004942●●●●●●
50. 22078995 c.287G>A p.R96Q missense 0.00003295●●●●●●
51. 21958145 c.4613A>G p.N1538S missense 0.00000824●●●●●●
52. 21962846 c.4255T>C p.W1419R missense 0.00001659●●●●●●
53. 21998557 c.3076A>G p.N1026D missense 0.00000831●●●●●●
54. 21998563 c.3070A>G p.I1024V missense 0.00003318●●●●●●
55. 21998650 c.2983A>G p.I995V missense 0.00001650●●●●●●
56. 21998701 c.2932C>A p.P978T missense 0.00002477●●●●●●
57. 22001135 c.2815C>T p.R939W missense 0.00000825●●●●●●
58. 22005099 c.2701A>C p.T901P missense 0.00000829●●●●●●
59. 22005346 c.2599G>A p.V867I missense 0.00000824●●●●●●
60. 22012525 c.2500T>C p.F834L missense 0.00002473●●●●●●
61. 22025560 c.2197A>G p.N733D missense 0.00001647●●●●●●
62. 22035777 c.1942G>A p.G648R missense 0.00000824●●●●●●
63. 22040792 c.1879C>G p.P627A missense 0.00000828●●●●●●
64. 22063773 c.1151G>A p.R384H missense 0.00002474●●●●●●
65. 22063794 c.1130T>C p.I377T missense 0.00000825●●●●●●
66. 22063797 c.1127C>T p.T376I missense 0.00000825●●●●●●
67. 22063873 c.1051G>T p.A351S missense 0.00001654●●●●●●
68. 22065964 c.853A>G p.I285V missense 0.00000826●●●●●●
69. 22078957 c.325G>A p.V109M missense 0.00001647●●●●●●
70. 22078977 c.305T>C p.L102P missense 0.00009061●●●●●●
71. 22078996 c.286C>T p.R96W missense 0.00000824●●●●●●
72. 22086716 c.284C>T p.S95L missense 0.00000825●●●●●●
73. 22086785 c.215G>A p.R72K missense 0.00004121●●●●●●
74. 22028599 c.2081G>A p.R694Q missense 0.00017446●●●●●●
75. 21981972 c.3589C>T p.R1197C missense 0.00009061●●●●●●
76. 21958242 c.4516C>T p.R1506C missense 0.00010040●●●●●●
77. 21971085 c.3770C>T p.T1257M missense 0.00001648●●●●●●
78. 22025599 c.2158G>A p.G720S missense 0.00002471●●●●●●
79. 22035793 c.1926A>G p.I642M missense 0.00000824●●●●●●
80. 22061070 c.1396C>T p.L466F missense 0.00000835●●●●●●
81. 22065819 c.998A>T p.N333I missense 0.00000826●●●●●●
82. 22069925 c.519G>T p.M173I missense 0.00000824●●●●●●
83. 21958124 c.4634T>C p.V1545A missense 0.00000824●●●●●●
84. 21958127 c.4631T>C p.L1544S missense 0.00003297●●●●●●
85. 21958131 c.4627A>C p.T1543P missense 0.00000824●●●●●●
86. 21958154 c.4604C>A p.A1535D missense 0.00004947●●●●●●
87. 21958155 c.4603G>A p.A1535T missense 0.00007421●●●●●●
88. 21958155 c.4603G>T p.A1535S missense 0.00000825●●●●●●
89. 21958158 c.4600C>T p.L1534F missense 0.00000825●●●●●●
90. 21958178 c.4580G>A p.C1527Y missense 0.00000825●●●●●●
91. 21958187 c.4571T>C p.L1524S missense 0.00000827●●●●●●
92. 21958203 c.4555T>A p.F1519I missense 0.00000827●●●●●●
93. 21958211 c.4547T>C p.V1516A missense 0.00000828●●●●●●
94. 21958214 c.4544T>G p.L1515R missense 0.00001656●●●●●●
95. 21958223 c.4535A>G p.D1512G missense 0.00000829●●●●●●
96. 21958241 c.4517G>A p.R1506H missense 0.00001672●●●●●●
97. 21958955 c.4489G>C p.D1497H missense 0.00000826●●●●●●
98. 21958973 c.4471G>A p.V1491I missense 0.00000827●●●●●●
99. 21960375 c.4354G>C p.G1452R missense 0.00000824●●●●●●
100. 21960377 c.4352T>C p.V1451A missense 0.00000824●●●●●●
101. 21960404 c.4325T>C p.V1442A missense 0.00000825●●●●●●
102. 21960410 c.4319C>T p.A1440V missense 0.00002476●●●●●●
103. 21965026 c.4168T>C p.S1390P missense 0.00000825●●●●●●
104. 21965038 c.4156C>T p.R1386C missense 0.00000825●●●●●●
105. 21965044 c.4150A>G p.T1384A missense 0.00001650●●●●●●
106. 21965047 c.4147C>T p.H1383Y missense 0.00001650●●●●●●
107. 21965068 c.4126G>A p.D1376N missense 0.00000825●●●●●●
108. 21965083 c.4111G>A p.V1371I missense 0.00000826●●●●●●
109. 21967582 c.4098T>G p.F1366L missense 0.00000829●●●●●●
110. 21967585 c.4095A>G p.I1365M missense 0.00000828●●●●●●
111. 21967587 c.4093A>G p.I1365V missense 0.00019038●●●●●●
112. 21967594 c.4086G>A p.M1362I missense 0.00000827●●●●●●
113. 21968711 c.4009A>G p.K1337E missense 0.00000825●●●●●●
114. 21968726 c.3994G>A p.V1332I missense 0.00000824●●●●●●
115. 21968759 c.3961T>C p.Y1321H missense 0.00000824●●●●●●
116. 21968764 c.3956T>G p.V1319G missense 0.00001649●●●●●●
117. 21968771 c.3949C>G p.L1317V missense 0.00000825●●●●●●
118. 21968774 c.3946G>C p.D1316H missense 0.00000825●●●●●●
119. 21968777 c.3943C>T p.H1315Y missense 0.00000825●●●●●●
120. 21968806 c.3914A>G p.H1305R missense 0.00000824●●●●●●
121. 21968807 c.3913C>T p.H1305Y missense 0.00003298●●●●●●
122. 21968816 c.3904G>T p.V1302F missense 0.00000824●●●●●●
123. 21968827 c.3893A>T p.D1298V missense 0.00000824●●●●●●
124. 21970126 c.3887C>T p.T1296I missense 0.00000826●●●●●●
125. 21970150 c.3863T>C p.M1288T missense 0.00000825●●●●●●
126. 21970216 c.3797T>C p.V1266A missense 0.00000827●●●●●●
127. 21971127 c.3728C>T p.S1243L missense 0.00000824●●●●●●
128. 21971148 c.3707T>C p.I1236T missense 0.00000824●●●●●●
129. 21971149 c.3706A>G p.I1236V missense 0.00000824●●●●●●
130. 21981899 c.3662T>C p.V1221A missense 0.00000824●●●●●●
131. 21981911 c.3650G>C p.R1217T missense 0.00000824●●●●●●
132. 21981945 c.3616A>T p.N1206Y missense 0.00000824●●●●●●
133. 21981959 c.3602T>G p.L1201R missense 0.00000824●●●●●●
134. 21981971 c.3590G>A p.R1197H missense 0.00001648●●●●●●
135. 21981978 c.3583A>G p.K1195E missense 0.00000824●●●●●●
136. 21981989 c.3572A>G p.E1191G missense 0.00000824●●●●●●
137. 21991021 c.3557G>A p.R1186Q missense 0.00000825●●●●●●
138. 21991099 c.3479T>G p.L1160R missense 0.00000825●●●●●●
139. 21995255 c.3466G>A p.A1156T missense 0.00000871●●●●●●
140. 21995260 c.3461G>C p.R1154P missense 0.00000858●●●●●●
141. 21997417 c.3315G>C p.Q1105H missense 0.00000825●●●●●●
142. 21997428 c.3304A>G p.I1102V missense 0.00000825●●●●●●
143. 21997433 c.3299C>G p.T1100S missense 0.00001650●●●●●●
144. 21997449 c.3283C>T p.R1095C missense 0.00001650●●●●●●
145. 21997457 c.3275T>G p.I1092S missense 0.00010725●●●●●●
146. 21997725 c.3221A>G p.N1074S missense 0.00001648●●●●●●
147. 21997726 c.3220A>G p.N1074D missense 0.00000824●●●●●●
148. 21997758 c.3188C>T p.T1063I missense 0.00000824●●●●●●
149. 21997769 c.3177G>C p.W1059C missense 0.00000824●●●●●●
150. 21998538 c.3095A>C p.Q1032P missense 0.00000846●●●●●●
151. 21998553 c.3080C>T p.T1027I missense 0.00001665●●●●●●
152. 21998572 c.3061G>A p.E1021K missense 0.00002484●●●●●●
153. 21998691 c.2942C>A p.T981N missense 0.00000825●●●●●●
154. 21998692 c.2941A>G p.T981A missense 0.00000825●●●●●●
155. 21998695 c.2938A>G p.K980E missense 0.00000825●●●●●●
156. 21998698 c.2935T>C p.W979R missense 0.00000825●●●●●●
157. 21998718 c.2915G>A p.R972K missense 0.00000826●●●●●●
158. 21998739 c.2894A>G p.D965G missense 0.00000831●●●●●●
159. 21998743 c.2890G>A p.D964N missense 0.00000835●●●●●●
160. 22001088 c.2862C>G p.D954E missense 0.00000827●●●●●●
161. 22001120 c.2830A>G p.R944G missense 0.00000826●●●●●●
162. 22001134 c.2816G>A p.R939Q missense 0.00001651●●●●●●
163. 22001168 c.2782G>A p.D928N missense 0.00000826●●●●●●
164. 22001171 c.2779G>T p.A927S missense 0.00000826●●●●●●
165. 22001180 c.2770G>A p.D924N missense 0.00000827●●●●●●
166. 22005043 c.2757A>C p.Q919H missense 0.00000828●●●●●●
167. 22005078 c.2722G>A p.E908K missense 0.00001658●●●●●●
168. 22005141 c.2659G>C p.D887H missense 0.00000829●●●●●●
169. 22005152 c.2648T>C p.I883T missense 0.00000828●●●●●●
170. 22005304 c.2641T>C p.W881R missense 0.00000824●●●●●●
171. 22005307 c.2638G>T p.D880Y missense 0.00000824●●●●●●
172. 22005313 c.2632C>T p.H878Y missense 0.00000824●●●●●●
173. 22005359 c.2586C>G p.D862E missense 0.00000824●●●●●●
174. 22005439 c.2506G>A p.D836N missense 0.00000828●●●●●●
175. 22012554 c.2471G>A p.R824Q missense 0.00000824●●●●●●
176. 22012560 c.2465T>C p.V822A missense 0.00000824●●●●●●
177. 22012564 c.2461T>A p.C821S missense 0.00000824●●●●●●
178. 22012570 c.2455A>G p.R819G missense 0.00000824●●●●●●
179. 22013937 c.2392C>A p.P798T missense 0.00000825●●●●●●
180. 22013954 c.2375C>T p.P792L missense 0.00000825●●●●●●
181. 22013961 c.2368C>T p.L790F missense 0.00000825●●●●●●
182. 22013972 c.2357A>G p.D786G missense 0.00000825●●●●●●
183. 22015911 c.2315T>C p.F772S missense 0.00000834●●●●●●
184. 22015926 c.2300A>G p.E767G missense 0.00000831●●●●●●
185. 22015933 c.2293A>G p.T765A missense 0.00000831●●●●●●
186. 22015935 c.2291C>T p.A764V missense 0.00002492●●●●●●
187. 22015936 c.2290G>A p.A764T missense 0.00000831●●●●●●
188. 22015981 c.2245A>T p.R749W missense 0.00000835●●●●●●
189. 22015984 c.2242A>G p.N748D missense 0.00000836●●●●●●
190. 22017373 c.2237G>A p.S746N missense 0.00000830●●●●●●
191. 22025566 c.2191T>G p.W731G missense 0.00004119●●●●●●
192. 22025567 c.2190C>A p.H730Q missense 0.00002471●●●●●●
193. 22025586 c.2171C>T p.T724I missense 0.00001647●●●●●●
194. 22025655 c.2102C>A p.T701N missense 0.00000824●●●●●●
195. 22028590 c.2090C>G p.T697R missense 0.00000831●●●●●●
196. 22028608 c.2072T>C p.I691T missense 0.00000831●●●●●●
197. 22028635 c.2045G>A p.G682D missense 0.00000833●●●●●●
198. 22028650 c.2030G>T p.G677V missense 0.00000836●●●●●●
199. 22035714 c.2005G>A p.D669N missense 0.00000825●●●●●●
200. 22035714 c.2005G>C p.D669H missense 0.00000825●●●●●●
201. 22035717 c.2002G>A p.E668K missense 0.00000825●●●●●●
202. 22035719 c.2000C>T p.T667I missense 0.00002473●●●●●●
203. 22035737 c.1982G>A p.R661H missense 0.00001649●●●●●●
204. 22035741 c.1978C>T p.R660W missense 0.00001649●●●●●●
205. 22035747 c.1972T>C p.S658P missense 0.00000824●●●●●●
206. 22035764 c.1955T>G p.L652R missense 0.00000824●●●●●●
207. 22035771 c.1948T>C p.Y650H missense 0.00000824●●●●●●
208. 22035776 c.1943G>A p.G648E missense 0.00001649●●●●●●
209. 22035777 c.1942G>C p.G648R missense 0.00001649●●●●●●
210. 22035780 c.1939C>G p.P647A missense 0.00000824●●●●●●
211. 22035780 c.1939C>T p.P647S missense 0.00000824●●●●●●
212. 22035798 c.1921A>G p.T641A missense 0.00001649●●●●●●
213. 22040822 c.1849G>A p.D617N missense 0.00001656●●●●●●
214. 22040854 c.1817A>G p.N606S missense 0.00000829●●●●●●
215. 22047092 c.1676C>T p.A559V missense 0.00000825●●●●●●
216. 22059069 c.1609T>A p.S537T missense 0.00000826●●●●●●
217. 22059075 c.1603T>C p.Y535H missense 0.00003303●●●●●●
218. 22061015 c.1451C>T p.T484I missense 0.00000850●●●●●●
219. 22061066 c.1400C>T p.A467V missense 0.00001671●●●●●●
220. 22061102 c.1364G>C p.S455T missense 0.00000833●●●●●●
221. 22061143 c.1323C>G p.I441M missense 0.00000836●●●●●●
222. 22061144 c.1322T>A p.I441N missense 0.00000836●●●●●●
223. 22063091 c.1320G>C p.Q440H missense 0.00000830●●●●●●
224. 22063099 c.1312C>A p.P438T missense 0.00000829●●●●●●
225. 22063105 c.1306G>A p.A436T missense 0.00002484●●●●●●
226. 22063116 c.1295C>A p.P432H missense 0.00000825●●●●●●
227. 22063133 c.1278G>T p.W426C missense 0.00000825●●●●●●
228. 22063137 c.1274T>C p.M425T missense 0.00000825●●●●●●
229. 22063159 c.1252G>A p.A418T missense 0.00001651●●●●●●
230. 22063774 c.1150C>T p.R384C missense 0.00000825●●●●●●
231. 22063777 c.1147C>T p.L383F missense 0.00000825●●●●●●
232. 22063782 c.1142T>A p.I381N missense 0.00000825●●●●●●
233. 22063795 c.1129A>G p.I377V missense 0.00006599●●●●●●
234. 22063812 c.1112C>G p.A371G missense 0.00000825●●●●●●
235. 22063842 c.1082C>G p.A361G missense 0.00003303●●●●●●
236. 22063911 c.1013T>C p.I338T missense 0.00000829●●●●●●
237. 22065847 c.970C>T p.R324C missense 0.00000826●●●●●●
238. 22065880 c.937G>A p.A313T missense 0.00000825●●●●●●
239. 22065906 c.911G>A p.R304H missense 0.00000825●●●●●●
240. 22065910 c.907T>C p.F303L missense 0.00000825●●●●●●
241. 22065933 c.884G>A p.R295Q missense 0.00000825●●●●●●
242. 22065948 c.869A>T p.Y290F missense 0.00001651●●●●●●
243. 22065950 c.867G>A p.M289I missense 0.00000826●●●●●●
244. 22065964 c.853A>T p.I285L missense 0.00000826●●●●●●
245. 22065975 c.842G>A p.R281Q missense 0.00002479●●●●●●
246. 22065976 c.841C>T p.R281W missense 0.00000826●●●●●●
247. 22065997 c.820A>G p.K274E missense 0.00000831●●●●●●
248. 22068624 c.794A>G p.K265R missense 0.00000824●●●●●●
249. 22068675 c.743T>C p.I248T missense 0.00001649●●●●●●
250. 22068684 c.734T>C p.L245P missense 0.00000824●●●●●●
251. 22068690 c.728T>C p.I243T missense 0.00000824●●●●●●
252. 22068838 c.580G>A p.V194I missense 0.00000835●●●●●●
253. 22068842 c.576A>T p.R192S missense 0.00000836●●●●●●
254. 22068843 c.575G>A p.R192K missense 0.00000837●●●●●●
255. 22069947 c.497G>A p.R166H missense 0.00003296●●●●●●
256. 22069987 c.457G>A p.V153I missense 0.00002472●●●●●●
257. 22070015 c.429G>A p.M143I missense 0.00000824●●●●●●
258. 22078891 c.391C>T p.P131S missense 0.00000824●●●●●●
259. 22078911 c.371A>G p.N124S missense 0.00000824●●●●●●
260. 22078927 c.355A>G p.I119V missense 0.00000824●●●●●●
261. 22078939 c.343A>G p.T115A missense 0.00000824●●●●●●
262. 22078953 c.329T>A p.M110K missense 0.00000824●●●●●●
263. 22078993 c.289C>T p.R97W missense 0.00001647●●●●●●
264. 22086744 c.256G>C p.E86Q missense 0.00001649●●●●●●
265. 22086797 c.203G>A p.G68E missense 0.00000824●●●●●●
266. 22086800 c.200C>T p.P67L missense 0.00000824●●●●●●
267. 22089507 c.102T>A p.H34Q missense 0.00000837●●●●●●
268. 22089521 c.88A>G p.N30D missense 0.00000832●●●●●●
269. 22089532 c.77T>C p.V26A missense 0.00000830●●●●●●
270. 22089533 c.76G>A p.V26M missense 0.00000830●●●●●●
271. 22089560 c.49G>A p.D17N missense 0.00002484●●●●●●
272. 22089562 c.47A>G p.N16S missense 0.00000828●●●●●●
273. 22089572 c.37T>C p.Y13H missense 0.00000828●●●●●●
274. 22089583 c.26A>G p.N9S missense 0.00000828●●●●●●
275. 22005391 c.2554C>T p.Q852X nonsense 0.00002474●●●●●●
276. 21981908 c.3653G>A p.W1218X nonsense 0.00000824●●●●●●
277. 22012582 c.2443G>T p.G815X nonsense 0.00001648●●●●●●
278. 22059149 c.1529G>A p.W510X nonsense 0.00000836●●●●●●
279. 22063805 c.1119C>G p.Y373X nonsense 0.00000825●●●●●●
280. 22069879 c.565C>T p.R189X nonsense 0.00013234●●●●●●
281. 22086831 c.169C>T p.Q57X nonsense 0.00000824●●●●●●
282. 22068849 c.574-5C>A splice site 0.61380125●●●●●●
283. 21981892 c.3669G>A p.T1223T splice site 0.00006589●●●●●●
284. 21981888 c.3669+4C>G splice site 0.00002471●●●●●●
285. 22001081 c.2866+3A>G splice site 0.00007462●●●●●●
286. 22025671 c.2093-7T>C splice site 0.00246309●●●●●●
287. 21981888 c.3669+4C>T splice site 0.00000824●●●●●●
288. 21995409 c.3316-4A>C splice site 0.00006591●●●●●●
289. 21997411 c.3315+6T>C splice site 0.00001650●●●●●●
290. 21958925 c.4512+7A>G splice site 0.00003302●●●●●●
291. 21967579 c.4101T>C p.D1367D splice site 0.00000829●●●●●●
292. 21971076 c.3771+8T>C splice site 0.00002473●●●●●●
293. 21995412 c.3316-7C>A splice site 0.00000824●●●●●●
294. 21998771 c.2867-5T>C splice site 0.00006240●●●●●●
295. 22025552 c.2198+7A>G splice site 0.00004119●●●●●●
296. 22028664 c.2020-4G>A splice site 0.00000840●●●●●●
297. 22061007 c.1455+4A>C splice site 0.00006877●●●●●●
298. 21958932 c.4512T>A splice site 0.00001651●●●●●●
299. 21981882 c.3669+10T>C splice site 0.00004942●●●●●●
300. 21997408 c.3315+9C>A splice site 0.00003301●●●●●●
301. 21997410 c.3315+7A>T splice site 0.00002475●●●●●●
302. 21998530 c.3096+7T>C splice site 0.00001722●●●●●●
303. 21998772 c.2867-6A>G splice site 0.00000897●●●●●●
304. 22005167 c.2644-11G>A splice site 0.00647467●●●●●●
305. 22013896 c.2424+9T>C splice site 0.00741575●●●●●●
306. 22013998 c.2340-9C>T splice site 0.00000826●●●●●●
307. 22017422 c.2199-11T>C splice site 0.99952088●●●●●●
308. 22048199 c.1659+10T>C splice site 0.00004994●●●●●●
309. 22063749 c.1164+11A>G splice site 0.99692533●●●●●●
310. 22066008 c.817-8T>G splice site 0.00000881●●●●●●
311. 22068591 c.816+11G>A splice site 0.00013191●●●●●●
312. 22086862 c.143-5T>C splice site 0.00000825●●●●●●
313. 22089457 c.142+10C>A splice site 0.00003714●●●●●●
314. 21958248 c.4513-3C>T splice site 0.00000840●●●●●●
315. 21958249 c.4513-4C>T splice site 0.00000840●●●●●●
316. 21962780 c.4315+6T>C splice site 0.00001674●●●●●●
317. 21962783 c.4315+3A>G splice site 0.00000836●●●●●●
318. 21962892 c.4212-3C>T splice site 0.00001671●●●●●●
319. 21962897 c.4212-8C>T splice site 0.00000837●●●●●●
320. 21964975 c.4211+8A>T splice site 0.00000826●●●●●●
321. 21964977 c.4211+6T>C splice site 0.00000826●●●●●●
322. 21967662 c.4024-6T>C splice site 0.00000826●●●●●●
323. 21968830 c.3893-3C>A splice site 0.00000824●●●●●●
324. 21968830 c.3893-3C>T splice site 0.00001649●●●●●●
325. 21971080 c.3771+4G>C splice site 0.00001648●●●●●●
326. 21971084 c.3771G>A splice site 0.00000824●●●●●●
327. 21981887 c.3669+5G>A splice site 0.00001647●●●●●●
328. 21981889 c.3669+3A>G splice site 0.00000824●●●●●●
329. 21982000 c.3567-6C>G splice site 0.00001652●●●●●●
330. 21995411 c.3316-6T>A splice site 0.00000824●●●●●●
331. 21997693 c.3245+8delA splice site 0.00001649●●●●●●
332. 21997857 c.3097-8C>G splice site 0.00000842●●●●●●
333. 21998531 c.3096+6A>G splice site 0.00000859●●●●●●
334. 21998533 c.3096+4delC splice site 0.00000857●●●●●●
335. 21998532 c.3096+5A>G splice site 0.00000857●●●●●●
336. 21998534 c.3096+3A>G splice site 0.00000853●●●●●●
337. 22001186 c.2770-6C>A splice site 0.00000828●●●●●●
338. 22005159 c.2644-3T>G splice site 0.00003314●●●●●●
339. 22005297 c.2643+5G>A splice site 0.00000825●●●●●●
340. 22012512 c.2505+8T>C splice site 0.00000824●●●●●●
341. 22015992 c.2238-4T>C splice site 0.00001737●●●●●●
342. 22017417 c.2199-6T>C splice site 0.00004968●●●●●●
343. 22017418 c.2199-7C>T splice site 0.00000828●●●●●●
344. 22025668 c.2093-4C>T splice site 0.00000824●●●●●●
345. 22028583 c.2092+5G>T splice site 0.00002493●●●●●●
346. 22035695 c.2019+5T>C splice site 0.00000826●●●●●●
347. 22035697 c.2019+3T>A splice site 0.00000826●●●●●●
348. 22035697 c.2019+3T>C splice site 0.00000826●●●●●●
349. 22040868 c.1803T>C splice site 0.00001660●●●●●●
350. 22040873 c.1803-5dupT splice site 0.00008302●●●●●●
351. 22048201 c.1659+8A>C splice site 0.00000832●●●●●●
352. 22048256 c.1619-7T>C splice site 0.00001662●●●●●●
353. 22059054 c.1618+6T>C splice site 0.00002478●●●●●●
354. 22059225 c.1456-3T>C splice site 0.00001214●●●●●●
355. 22061151 c.1321-6C>T splice site 0.00000837●●●●●●
356. 22063086 c.1320+5G>T splice site 0.00003326●●●●●●
357. 22063917 c.1012-5A>G splice site 0.00000830●●●●●●
358. 22063919 c.1012-7G>A splice site 0.00000831●●●●●●
359. 22065798 c.1011+8C>T splice site 0.00000827●●●●●●
360. 22065800 c.1011+6T>C splice site 0.00000827●●●●●●
361. 22066008 c.817-8_817-6delTTCinsTC splice site 0.01615801●●●●●●
362. 22066009 c.817-9_817-8insT splice site 0.01477273●●●●●●
363. 22066006 c.817-6C>T splice site 0.00032468●●●●●●
364. 22068594 c.816+8A>G splice site 0.00004122●●●●●●
365. 22070040 c.407-3C>T splice site 0.00000826●●●●●●
366. 22086863 c.143-6T>C splice site 0.00000825●●●●●●
367. 22086866 c.143-9_143-8delCT splice site 0.00001650●●●●●●
368. 22015989 c.2238-1G>A essential splice site 0.00162086●●●●●●
369. 22063090 c.1320+1G>A essential splice site 0.00005814●●●●●●
370. 22089465 c.142+2T>C essential splice site 0.00000902●●●●●●
371. 21962890 c.4212-1G>T essential splice site 0.00000835●●●●●●
372. 21970119 c.3892+2T>C essential splice site 0.00000827●●●●●●
373. 21970242 c.3772-1G>A essential splice site 0.00000830●●●●●●
374. 21971082 c.3771+2T>G essential splice site 0.00000824●●●●●●
375. 22005157 c.2644-1G>C essential splice site 0.00000829●●●●●●
376. 22012601 c.2425-1G>T essential splice site 0.00000824●●●●●●
377. 22017371 c.2237+2T>C essential splice site 0.00000830●●●●●●
378. 22048252 c.1619-3_1619-2delCA essential splice site 0.00002494●●●●●●
379. 22069869 c.573+2T>G essential splice site 0.00000832●●●●●●
380. 22086715 c.284+1G>A essential splice site 0.00002475●●●●●●
381. 21958187 c.4571_4572delTA p.Leu1524CysfsTer4 frameshift 0.00064416●●●●●●
382. 21958187 c.4571_4572dupTA p.Val1525Ter frameshift 0.00000826●●●●●●
383. 21960374 c.4355_4356delGA p.Gly1452AlafsTer22 frameshift 0.00000824●●●●●●
384. 21971182 c.3673_3674insT p.Tyr1225LeufsTer16 frameshift 0.00000825●●●●●●
385. 21998616 c.3017delC p.Ser1006TrpfsTer4 frameshift 0.00000825●●●●●●
386. 22005032 c.2768delA p.Lys923ArgfsTer10 frameshift 0.00000828●●●●●●
387. 22005094 c.2706delA p.Asp903MetfsTer12 frameshift 0.00000829●●●●●●
388. 22025653 c.2104delA p.Met702Ter frameshift 0.00000824●●●●●●
389. 22040843 c.1828_1829delTT p.Leu610GlufsTer2 frameshift 0.00000829●●●●●●
390. 22048210 c.1658dupC p.Thr554TyrfsTer54 frameshift 0.00000832●●●●●●
391. 22063138 c.1273_1274delAT p.Met425ValfsTer8 frameshift 0.00000825●●●●●●
392. 22065869 c.948_949delTT p.Cys317TyrfsTer10 frameshift 0.00000825●●●●●●
393. 22086828 c.172dupA p.Ile58AsnfsTer13 frameshift 0.00000824●●●●●●
394. 22089608 c.1delA p.Met1? frameshift 0.00000830●●●●●●
395. 21958189 c.4569_4570insAAA p.Ile1523_Leu1524insLys inframe 0.00064430●●●●●●

* 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.