ABCC9 protein-altering variants in ExAC

ABCC9 gene summary
ABCC9 variants in DCM

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 frequency▼Populations*
1. 21981972 c.3589C>T p.R1197C missense 0.00009061●●●●●●
2. 22078977 c.305T>C p.L102P 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. 22063090 c.1320+1G>A essential splice site 0.00005814●●●●●●
9. 22028594 c.2086C>T p.P696S missense 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. 22005315 c.2630C>T p.T877M missense 0.00004121●●●●●●
18. 22035738 c.1981C>T p.R661C 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. 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. 22063105 c.1306G>A p.A436T missense 0.00002484●●●●●●
36. 22089560 c.49G>A p.D17N missense 0.00002484●●●●●●
37. 21998572 c.3061G>A p.E1021K 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. 22086715 c.284+1G>A essential splice site 0.00002475●●●●●●
43. 21997457 c.3275T>A p.I1092N missense 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. 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. 22063159 c.1252G>A p.A418T missense 0.00001651●●●●●●
65. 22065948 c.869A>T p.Y290F missense 0.00001651●●●●●●
66. 22001134 c.2816G>A p.R939Q missense 0.00001651●●●●●●
67. 21965047 c.4147C>T p.H1383Y missense 0.00001650●●●●●●
68. 21998650 c.2983A>G p.I995V missense 0.00001650●●●●●●
69. 21997433 c.3299C>G p.T1100S missense 0.00001650●●●●●●
70. 21997449 c.3283C>T p.R1095C missense 0.00001650●●●●●●
71. 21965044 c.4150A>G p.T1384A missense 0.00001650●●●●●●
72. 22086744 c.256G>C p.E86Q missense 0.00001649●●●●●●
73. 22035777 c.1942G>C p.G648R missense 0.00001649●●●●●●
74. 21968764 c.3956T>G p.V1319G missense 0.00001649●●●●●●
75. 22035737 c.1982G>A p.R661H missense 0.00001649●●●●●●
76. 22035741 c.1978C>T p.R660W missense 0.00001649●●●●●●
77. 22068675 c.743T>C p.I248T missense 0.00001649●●●●●●
78. 22035776 c.1943G>A p.G648E missense 0.00001649●●●●●●
79. 22035798 c.1921A>G p.T641A missense 0.00001649●●●●●●
80. 21971085 c.3770C>T p.T1257M missense 0.00001648●●●●●●
81. 21981971 c.3590G>A p.R1197H missense 0.00001648●●●●●●
82. 22012582 c.2443G>T p.G815X nonsense 0.00001648●●●●●●
83. 21997725 c.3221A>G p.N1074S missense 0.00001648●●●●●●
84. 21981893 c.3668C>T p.T1223M missense 0.00001647●●●●●●
85. 22025602 c.2155C>T p.L719F missense 0.00001647●●●●●●
86. 22025560 c.2197A>G p.N733D missense 0.00001647●●●●●●
87. 22025586 c.2171C>T p.T724I missense 0.00001647●●●●●●
88. 22078957 c.325G>A p.V109M missense 0.00001647●●●●●●
89. 22078993 c.289C>T p.R97W 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. 22015984 c.2242A>G p.N748D missense 0.00000836●●●●●●
98. 22061144 c.1322T>A p.I441N missense 0.00000836●●●●●●
99. 22059149 c.1529G>A p.W510X nonsense 0.00000836●●●●●●
100. 22068842 c.576A>T p.R192S missense 0.00000836●●●●●●
101. 22028650 c.2030G>T p.G677V missense 0.00000836●●●●●●
102. 22061143 c.1323C>G p.I441M missense 0.00000836●●●●●●
103. 21962890 c.4212-1G>T essential splice site 0.00000835●●●●●●
104. 22068838 c.580G>A p.V194I missense 0.00000835●●●●●●
105. 22061070 c.1396C>T p.L466F missense 0.00000835●●●●●●
106. 21998743 c.2890G>A p.D964N missense 0.00000835●●●●●●
107. 22015981 c.2245A>T p.R749W 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. 22028608 c.2072T>C p.I691T missense 0.00000831●●●●●●
115. 21962870 c.4231T>C p.C1411R missense 0.00000831●●●●●●
116. 21998739 c.2894A>G p.D965G missense 0.00000831●●●●●●
117. 22015936 c.2290G>A p.A764T missense 0.00000831●●●●●●
118. 22015926 c.2300A>G p.E767G missense 0.00000831●●●●●●
119. 22028590 c.2090C>G p.T697R missense 0.00000831●●●●●●
120. 21998557 c.3076A>G p.N1026D missense 0.00000831●●●●●●
121. 22015933 c.2293A>G p.T765A missense 0.00000831●●●●●●
122. 22065997 c.820A>G p.K274E missense 0.00000831●●●●●●
123. 22089533 c.76G>A p.V26M missense 0.00000830●●●●●●
124. 22089608 c.1delA p.Met1? frameshift 0.00000830●●●●●●
125. 22017371 c.2237+2T>C essential splice site 0.00000830●●●●●●
126. 22017373 c.2237G>A p.S746N missense 0.00000830●●●●●●
127. 22063091 c.1320G>C p.Q440H missense 0.00000830●●●●●●
128. 21970242 c.3772-1G>A essential splice site 0.00000830●●●●●●
129. 22089532 c.77T>C p.V26A missense 0.00000830●●●●●●
130. 21967582 c.4098T>G p.F1366L missense 0.00000829●●●●●●
131. 22005099 c.2701A>C p.T901P missense 0.00000829●●●●●●
132. 22005134 c.2666G>A p.S889N missense 0.00000829●●●●●●
133. 22005094 c.2706delA p.Asp903MetfsTer12 frameshift 0.00000829●●●●●●
134. 22005141 c.2659G>C p.D887H missense 0.00000829●●●●●●
135. 22040854 c.1817A>G p.N606S missense 0.00000829●●●●●●
136. 22005157 c.2644-1G>C essential splice site 0.00000829●●●●●●
137. 22063911 c.1013T>C p.I338T missense 0.00000829●●●●●●
138. 22040843 c.1828_1829delTT p.Leu610GlufsTer2 frameshift 0.00000829●●●●●●
139. 22063099 c.1312C>A p.P438T missense 0.00000829●●●●●●
140. 21958223 c.4535A>G p.D1512G missense 0.00000829●●●●●●
141. 22089572 c.37T>C p.Y13H missense 0.00000828●●●●●●
142. 22068798 c.620A>G p.D207G missense 0.00000828●●●●●●
143. 22005032 c.2768delA p.Lys923ArgfsTer10 frameshift 0.00000828●●●●●●
144. 22005439 c.2506G>A p.D836N missense 0.00000828●●●●●●
145. 21958211 c.4547T>C p.V1516A missense 0.00000828●●●●●●
146. 22089583 c.26A>G p.N9S missense 0.00000828●●●●●●
147. 21967585 c.4095A>G p.I1365M missense 0.00000828●●●●●●
148. 22089562 c.47A>G p.N16S missense 0.00000828●●●●●●
149. 22005152 c.2648T>C p.I883T missense 0.00000828●●●●●●
150. 22040792 c.1879C>G p.P627A missense 0.00000828●●●●●●
151. 21998571 c.3062A>T p.E1021V missense 0.00000828●●●●●●
152. 22005043 c.2757A>C p.Q919H missense 0.00000828●●●●●●
153. 22065991 c.826G>A p.A276T missense 0.00000828●●●●●●
154. 21970216 c.3797T>C p.V1266A missense 0.00000827●●●●●●
155. 22001088 c.2862C>G p.D954E missense 0.00000827●●●●●●
156. 21958203 c.4555T>A p.F1519I missense 0.00000827●●●●●●
157. 21970119 c.3892+2T>C essential splice site 0.00000827●●●●●●
158. 22001180 c.2770G>A p.D924N missense 0.00000827●●●●●●
159. 21967594 c.4086G>A p.M1362I missense 0.00000827●●●●●●
160. 21958187 c.4571T>C p.L1524S missense 0.00000827●●●●●●
161. 21958973 c.4471G>A p.V1491I missense 0.00000827●●●●●●
162. 22001168 c.2782G>A p.D928N missense 0.00000826●●●●●●
163. 22065964 c.853A>T p.I285L missense 0.00000826●●●●●●
164. 22059069 c.1609T>A p.S537T missense 0.00000826●●●●●●
165. 22065964 c.853A>G p.I285V missense 0.00000826●●●●●●
166. 21998718 c.2915G>A p.R972K missense 0.00000826●●●●●●
167. 21970126 c.3887C>T p.T1296I missense 0.00000826●●●●●●
168. 22001171 c.2779G>T p.A927S missense 0.00000826●●●●●●
169. 22001120 c.2830A>G p.R944G missense 0.00000826●●●●●●
170. 22065976 c.841C>T p.R281W missense 0.00000826●●●●●●
171. 21958955 c.4489G>C p.D1497H missense 0.00000826●●●●●●
172. 21958187 c.4571_4572dupTA p.Val1525Ter frameshift 0.00000826●●●●●●
173. 22065950 c.867G>A p.M289I missense 0.00000826●●●●●●
174. 22065819 c.998A>T p.N333I missense 0.00000826●●●●●●
175. 21965083 c.4111G>A p.V1371I missense 0.00000826●●●●●●
176. 22065847 c.970C>T p.R324C missense 0.00000826●●●●●●
177. 22063777 c.1147C>T p.L383F missense 0.00000825●●●●●●
178. 22063137 c.1274T>C p.M425T missense 0.00000825●●●●●●
179. 22013972 c.2357A>G p.D786G missense 0.00000825●●●●●●
180. 21958155 c.4603G>T p.A1535S missense 0.00000825●●●●●●
181. 21968711 c.4009A>G p.K1337E missense 0.00000825●●●●●●
182. 22035714 c.2005G>A p.D669N missense 0.00000825●●●●●●
183. 21998691 c.2942C>A p.T981N missense 0.00000825●●●●●●
184. 21998683 c.2950C>T p.R984C missense 0.00000825●●●●●●
185. 22065869 c.948_949delTT p.Cys317TyrfsTer10 frameshift 0.00000825●●●●●●
186. 21997428 c.3304A>G p.I1102V missense 0.00000825●●●●●●
187. 22001137 c.2813G>A p.R938Q missense 0.00000825●●●●●●
188. 22063812 c.1112C>G p.A371G missense 0.00000825●●●●●●
189. 22013937 c.2392C>A p.P798T missense 0.00000825●●●●●●
190. 21958148 c.4610A>G p.K1537R missense 0.00000825●●●●●●
191. 22068735 c.683A>C p.Y228S missense 0.00000825●●●●●●
192. 22065933 c.884G>A p.R295Q missense 0.00000825●●●●●●
193. 22065880 c.937G>A p.A313T missense 0.00000825●●●●●●
194. 22063782 c.1142T>A p.I381N missense 0.00000825●●●●●●
195. 21958158 c.4600C>T p.L1534F missense 0.00000825●●●●●●
196. 22063158 c.1253C>T p.A418V missense 0.00000825●●●●●●
197. 22063794 c.1130T>C p.I377T missense 0.00000825●●●●●●
198. 21968771 c.3949C>G p.L1317V missense 0.00000825●●●●●●
199. 22035714 c.2005G>C p.D669H missense 0.00000825●●●●●●
200. 21998692 c.2941A>G p.T981A missense 0.00000825●●●●●●
201. 21965026 c.4168T>C p.S1390P missense 0.00000825●●●●●●
202. 21971182 c.3673_3674insT p.Tyr1225LeufsTer16 frameshift 0.00000825●●●●●●
203. 22063116 c.1295C>A p.P432H missense 0.00000825●●●●●●
204. 22013954 c.2375C>T p.P792L missense 0.00000825●●●●●●
205. 22086716 c.284C>T p.S95L missense 0.00000825●●●●●●
206. 21971181 c.3674A>G p.Y1225C missense 0.00000825●●●●●●
207. 22063774 c.1150C>T p.R384C missense 0.00000825●●●●●●
208. 21991021 c.3557G>A p.R1186Q missense 0.00000825●●●●●●
209. 21958178 c.4580G>A p.C1527Y missense 0.00000825●●●●●●
210. 21968774 c.3946G>C p.D1316H missense 0.00000825●●●●●●
211. 22063797 c.1127C>T p.T376I missense 0.00000825●●●●●●
212. 21965038 c.4156C>T p.R1386C missense 0.00000825●●●●●●
213. 22035717 c.2002G>A p.E668K missense 0.00000825●●●●●●
214. 21998695 c.2938A>G p.K980E missense 0.00000825●●●●●●
215. 21965068 c.4126G>A p.D1376N missense 0.00000825●●●●●●
216. 22065906 c.911G>A p.R304H missense 0.00000825●●●●●●
217. 21998616 c.3017delC p.Ser1006TrpfsTer4 frameshift 0.00000825●●●●●●
218. 21997417 c.3315G>C p.Q1105H missense 0.00000825●●●●●●
219. 22063133 c.1278G>T p.W426C missense 0.00000825●●●●●●
220. 22013961 c.2368C>T p.L790F missense 0.00000825●●●●●●
221. 21970150 c.3863T>C p.M1288T missense 0.00000825●●●●●●
222. 21960407 c.4322T>C p.V1441A missense 0.00000825●●●●●●
223. 21960404 c.4325T>C p.V1442A missense 0.00000825●●●●●●
224. 22063138 c.1273_1274delAT p.Met425ValfsTer8 frameshift 0.00000825●●●●●●
225. 21991099 c.3479T>G p.L1160R missense 0.00000825●●●●●●
226. 22063805 c.1119C>G p.Y373X nonsense 0.00000825●●●●●●
227. 22047092 c.1676C>T p.A559V missense 0.00000825●●●●●●
228. 21968777 c.3943C>T p.H1315Y missense 0.00000825●●●●●●
229. 21998698 c.2935T>C p.W979R missense 0.00000825●●●●●●
230. 22001135 c.2815C>T p.R939W missense 0.00000825●●●●●●
231. 22065910 c.907T>C p.F303L missense 0.00000825●●●●●●
232. 21981978 c.3583A>G p.K1195E missense 0.00000824●●●●●●
233. 21981945 c.3616A>T p.N1206Y missense 0.00000824●●●●●●
234. 21958131 c.4627A>C p.T1543P missense 0.00000824●●●●●●
235. 21960374 c.4355_4356delGA p.Gly1452AlafsTer22 frameshift 0.00000824●●●●●●
236. 22005359 c.2586C>G p.D862E missense 0.00000824●●●●●●
237. 21968827 c.3893A>T p.D1298V missense 0.00000824●●●●●●
238. 22086831 c.169C>T p.Q57X nonsense 0.00000824●●●●●●
239. 22070015 c.429G>A p.M143I missense 0.00000824●●●●●●
240. 21971082 c.3771+2T>G essential splice site 0.00000824●●●●●●
241. 21997708 c.3238C>T p.P1080S missense 0.00000824●●●●●●
242. 22068654 c.764T>C p.M255T missense 0.00000824●●●●●●
243. 22012564 c.2461T>A p.C821S missense 0.00000824●●●●●●
244. 21981899 c.3662T>C p.V1221A missense 0.00000824●●●●●●
245. 22069925 c.519G>T p.M173I missense 0.00000824●●●●●●
246. 22078939 c.343A>G p.T115A missense 0.00000824●●●●●●
247. 22005304 c.2641T>C p.W881R missense 0.00000824●●●●●●
248. 21968806 c.3914A>G p.H1305R missense 0.00000824●●●●●●
249. 22078996 c.286C>T p.R96W missense 0.00000824●●●●●●
250. 22068690 c.728T>C p.I243T missense 0.00000824●●●●●●
251. 22035764 c.1955T>G p.L652R missense 0.00000824●●●●●●
252. 21958145 c.4613A>G p.N1538S missense 0.00000824●●●●●●
253. 21997726 c.3220A>G p.N1074D missense 0.00000824●●●●●●
254. 21960375 c.4354G>C p.G1452R missense 0.00000824●●●●●●
255. 21981989 c.3572A>G p.E1191G missense 0.00000824●●●●●●
256. 21968765 c.3955G>A p.V1319I missense 0.00000824●●●●●●
257. 22086797 c.203G>A p.G68E missense 0.00000824●●●●●●
258. 21971127 c.3728C>T p.S1243L missense 0.00000824●●●●●●
259. 22035793 c.1926A>G p.I642M missense 0.00000824●●●●●●
260. 21968726 c.3994G>A p.V1332I missense 0.00000824●●●●●●
261. 22078891 c.391C>T p.P131S missense 0.00000824●●●●●●
262. 22035780 c.1939C>G p.P647A missense 0.00000824●●●●●●
263. 22068624 c.794A>G p.K265R missense 0.00000824●●●●●●
264. 22012570 c.2455A>G p.R819G missense 0.00000824●●●●●●
265. 21981908 c.3653G>A p.W1218X nonsense 0.00000824●●●●●●
266. 21958124 c.4634T>C p.V1545A missense 0.00000824●●●●●●
267. 21981959 c.3602T>G p.L1201R missense 0.00000824●●●●●●
268. 22078953 c.329T>A p.M110K missense 0.00000824●●●●●●
269. 22005307 c.2638G>T p.D880Y missense 0.00000824●●●●●●
270. 22035771 c.1948T>C p.Y650H missense 0.00000824●●●●●●
271. 22035777 c.1942G>A p.G648R missense 0.00000824●●●●●●
272. 22005346 c.2599G>A p.V867I missense 0.00000824●●●●●●
273. 22025655 c.2102C>A p.T701N missense 0.00000824●●●●●●
274. 21997758 c.3188C>T p.T1063I missense 0.00000824●●●●●●
275. 21960377 c.4352T>C p.V1451A missense 0.00000824●●●●●●
276. 22025653 c.2104delA p.Met702Ter frameshift 0.00000824●●●●●●
277. 22012554 c.2471G>A p.R824Q missense 0.00000824●●●●●●
278. 21971148 c.3707T>C p.I1236T missense 0.00000824●●●●●●
279. 22035780 c.1939C>T p.P647S missense 0.00000824●●●●●●
280. 21968759 c.3961T>C p.Y1321H missense 0.00000824●●●●●●
281. 22078911 c.371A>G p.N124S missense 0.00000824●●●●●●
282. 21981911 c.3650G>C p.R1217T missense 0.00000824●●●●●●
283. 21968816 c.3904G>T p.V1302F missense 0.00000824●●●●●●
284. 22086800 c.200C>T p.P67L missense 0.00000824●●●●●●
285. 22005313 c.2632C>T p.H878Y missense 0.00000824●●●●●●
286. 21997769 c.3177G>C p.W1059C missense 0.00000824●●●●●●
287. 22068609 c.809A>C p.E270A missense 0.00000824●●●●●●
288. 22012560 c.2465T>C p.V822A missense 0.00000824●●●●●●
289. 21971149 c.3706A>G p.I1236V missense 0.00000824●●●●●●
290. 22078927 c.355A>G p.I119V missense 0.00000824●●●●●●
291. 22086828 c.172dupA p.Ile58AsnfsTer13 frameshift 0.00000824●●●●●●
292. 22068684 c.734T>C p.L245P missense 0.00000824●●●●●●
293. 22035747 c.1972T>C p.S658P missense 0.00000824●●●●●●
294. 22012601 c.2425-1G>T essential splice site 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.