DSP variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP 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. 7576527 c.2631G>A p.R877R splice site 0.77179183●●●●●●
2. 7581636 c.5213G>A p.R1738Q missense 0.17240810●●●●●●
3. 7580958 c.4535A>G p.Y1512C missense 0.11560290●●●●●●
4. 7565727 c.913A>T p.I305F missense 0.02992749●●●●●●
5. 7556063 c.273+10C>T splice site 0.02513941●●●●●●
6. 7581001 c.4578C>A p.N1526K missense 0.01351531●●●●●●
7. 7569480 c.1481A>T p.Y494F missense 0.01176238●●●●●●
8. 7582993 c.5498A>T p.E1833V missense 0.00946015●●●●●●
9. 7581032 c.4609C>T p.R1537C missense 0.00913512●●●●●●
10. 7571824 c.1903+7T>C splice site 0.00703713●●●●●●
11. 7542160 c.12C>G p.N4K missense 0.00497197●●●●●●
12. 7583703 c.6208G>A p.D2070N missense 0.00391873●●●●●●
13. 7577213 c.2815G>A p.G939S missense 0.00368648●●●●●●
14. 7542236 c.88G>A p.V30M missense 0.00310766●●●●●●
15. 7585686 c.8191T>C p.Y2731H missense 0.00280477●●●●●●
16. 7586100 c.8605A>G p.I2869V missense 0.00216078●●●●●●
17. 7585795 c.8300C>A p.T2767N missense 0.00212116●●●●●●
18. 7580878 c.4455G>T p.R1485S missense 0.00175366●●●●●●
19. 7580795 c.4372C>G p.R1458G missense 0.00173703●●●●●●
20. 7585950 c.8455A>C p.M2819L missense 0.00171989●●●●●●
21. 7581011 c.4588G>T p.V1530F missense 0.00133205●●●●●●
22. 7581641 c.5218G>A p.E1740K missense 0.00123848●●●●●●
23. 7580346 c.3923G>A p.R1308Q missense 0.00121158●●●●●●
24. 7576619 c.2723G>A p.R908H missense 0.00112050●●●●●●
25. 7542305 c.157T>G p.S53A missense 0.00102204●●●●●●
26. 7585411 c.7916G>A p.R2639Q missense 0.00097805●●●●●●
27. 7580564 c.4141A>T p.T1381S missense 0.00088503●●●●●●
28. 7581601 c.5178C>A p.N1726K missense 0.00086014●●●●●●
29. 7584376 c.6881C>G p.A2294G missense 0.00084835●●●●●●
30. 7556049 c.269A>G p.Q90R missense 0.00067680●●●●●●
31. 7575687 c.2596C>T p.R866C missense 0.00060960●●●●●●
32. 7568145 c.1266+6G>T splice site 0.00059123●●●●●●
33. 7584150 c.6655G>A p.V2219I missense 0.00057663●●●●●●
34. 7585605 c.8110_8112delAAG p.Lys2706del inframe 0.00051142●●●●●●
35. 7571692 c.1778A>G p.N593S missense 0.00051122●●●●●●
36. 7583088 c.5593A>T p.N1865Y missense 0.00051073●●●●●●
37. 7580073 c.3650C>T p.T1217M missense 0.00047279●●●●●●
38. 7576669 c.2773C>T p.R925W missense 0.00046996●●●●●●
39. 7586022 c.8527_8538delAGTGGGTCCCGG p.Ser2843_Arg2846del inframe 0.00041825●●●●●●
40. 7562975 c.688G>A p.D230N missense 0.00039537●●●●●●
41. 7575014 c.2422C>T p.R808C missense 0.00037071●●●●●●
42. 7578691 c.2986-6T>A splice site 0.00035525●●●●●●
43. 7556058 c.273+5G>A splice site 0.00035156●●●●●●
44. 7580912 c.4489C>T p.R1497W missense 0.00034944●●●●●●
45. 7584294 c.6799A>T p.T2267S missense 0.00033780●●●●●●
46. 7580285 c.3862A>C p.K1288Q missense 0.00033219●●●●●●
47. 7585962 c.8467C>G p.P2823A missense 0.00033131●●●●●●
48. 7581173 c.4750G>A p.A1584T missense 0.00030170●●●●●●
49. 7583049 c.5554C>T p.R1852C missense 0.00028829●●●●●●
50. 7583791 c.6296C>T p.P2099L missense 0.00026453●●●●●●
51. 7583790 c.6295C>A p.P2099T missense 0.00026452●●●●●●
52. 7585989 c.8494_8505delGGATCTCGCTCC p.Gly2832_Ser2835del inframe 0.00024222●●●●●●
53. 7583050 c.5555G>A p.R1852H missense 0.00023887●●●●●●
54. 7576670 c.2774G>A p.R925Q missense 0.00023086●●●●●●
55. 7581164 c.4741A>G p.K1581E missense 0.00022597●●●●●●
56. 7581590 c.5167G>C p.E1723Q missense 0.00021517●●●●●●
57. 7576661 c.2765C>T p.T922I missense 0.00021431●●●●●●
58. 7581596 c.5173C>T p.R1725W missense 0.00019855●●●●●●
59. 7576580 c.2684A>G p.Y895C missense 0.00019774●●●●●●
60. 7576618 c.2722C>T p.R908C missense 0.00018950●●●●●●
61. 7581198 c.4775A>G p.K1592R missense 0.00018482●●●●●●
62. 7570791 c.1696G>A p.A566T missense 0.00018126●●●●●●
63. 7581366 c.4943A>G p.Q1648R missense 0.00016691●●●●●●
64. 7580949 c.4526G>A p.R1509K missense 0.00016648●●●●●●
65. 7580069 c.3646A>G p.I1216V missense 0.00016590●●●●●●
66. 7583239 c.5744G>A p.R1915H missense 0.00016535●●●●●●
67. 7565596 c.782C>T p.A261V missense 0.00014848●●●●●●
68. 7568027 c.1154C>T p.A385V missense 0.00014843●●●●●●
69. 7585481 c.7986C>A p.H2662Q missense 0.00014088●●●●●●
70. 7565753 c.939C>T splice site 0.00014011●●●●●●
71. 7563971 c.729C>T p.R243R splice site 0.00014005●●●●●●
72. 7585378 c.7883T>C p.L2628P missense 0.00013270●●●●●●
73. 7569482 c.1483G>A p.V495M missense 0.00013178●●●●●●
74. 7542195 c.47G>A p.R16H missense 0.00012784●●●●●●
75. 7556022 c.242G>A p.C81Y missense 0.00012463●●●●●●
76. 7579720 c.3297G>C p.K1099N missense 0.00011626●●●●●●
77. 7580345 c.3922C>T p.R1308W missense 0.00011618●●●●●●
78. 7583802 c.6307A>G p.K2103E missense 0.00011569●●●●●●
79. 7577264 c.2866A>T p.N956Y missense 0.00011232●●●●●●
80. 7563020 c.726+7G>C splice site 0.00010710●●●●●●
81. 7575637 c.2546A>G p.Y849C missense 0.00010708●●●●●●
82. 7577187 c.2794-5_2794-4insA splice site 0.00010119●●●●●●
83. 7580913 c.4490G>A p.R1497Q missense 0.00009986●●●●●●
84. 7583814 c.6319G>C p.V2107L missense 0.00009914●●●●●●
85. 7576579 c.2683T>C p.Y895H missense 0.00009887●●●●●●
86. 7580039 c.3616T>A p.L1206I missense 0.00009158●●●●●●
87. 7580259 c.3836C>T p.A1279V missense 0.00009142●●●●●●
88. 7580124 c.3701A>G p.N1234S missense 0.00009136●●●●●●
89. 7580540 c.4117A>G p.T1373A missense 0.00009109●●●●●●
90. 7567688 c.1140+6T>C splice site 0.00009071●●●●●●
91. 7581324 c.4901G>A p.R1634Q missense 0.00008416●●●●●●
92. 7581747 c.5324G>T p.R1775I missense 0.00008338●●●●●●
93. 7579698 c.3275C>T p.S1092L missense 0.00008302●●●●●●
94. 7580441 c.4018C>T p.R1340C missense 0.00008295●●●●●●
95. 7574476 c.2288A>G p.Y763C missense 0.00008269●●●●●●
96. 7580598 c.4175G>A p.R1392Q missense 0.00008266●●●●●●
97. 7583946 c.6451C>T p.R2151W missense 0.00008262●●●●●●
98. 7581645 c.5222C>T p.A1741V missense 0.00008256●●●●●●
99. 7565703 c.889G>A p.D297N missense 0.00008240●●●●●●
100. 7583112 c.5617C>T p.R1873C missense 0.00008239●●●●●●
101. 7574952 c.2360A>G p.Y787C missense 0.00008236●●●●●●
102. 7577197 c.2799G>C p.L933F missense 0.00007513●●●●●●
103. 7580937 c.4514C>T p.A1505V missense 0.00007491●●●●●●
104. 7580129 c.3706A>G p.R1236G missense 0.00007478●●●●●●
105. 7580445 c.4022G>A p.R1341H missense 0.00007466●●●●●●
106. 7566613 c.943C>T p.R315C missense 0.00007456●●●●●●
107. 7582881 c.5386A>G p.N1796D missense 0.00007438●●●●●●
108. 7583840 c.6345G>T p.L2115F missense 0.00007437●●●●●●
109. 7581644 c.5221G>A p.A1741T missense 0.00007431●●●●●●
110. 7578716 c.3005G>A p.R1002Q missense 0.00007418●●●●●●
111. 7567645 c.1103T>C p.I368T missense 0.00007413●●●●●●
112. 7581309 c.4886G>T p.S1629I missense 0.00006747●●●●●●
113. 7579985 c.3562T>C p.Y1188H missense 0.00006715●●●●●●
114. 7581338 c.4915G>A p.V1639M missense 0.00006704●●●●●●
115. 7568145 c.1266+6G>A splice site 0.00006662●●●●●●
116. 7581419 c.4996C>T p.R1666W missense 0.00006658●●●●●●
117. 7580808 c.4385G>T p.S1462I missense 0.00006626●●●●●●
118. 7582993 c.5498A>G p.E1833G missense 0.00006610●●●●●●
119. 7574314 c.2131-5G>C splice site 0.00006602●●●●●●
120. 7576562 c.2666G>A p.R889K missense 0.00006591●●●●●●
121. 7562930 c.643G>A p.E215K missense 0.00006589●●●●●●
122. 7542186 c.38C>T p.T13I missense 0.00006508●●●●●●
123. 7542203 c.55C>T p.R19C missense 0.00006007●●●●●●
124. 7581786 c.5363A>G p.Q1788R missense 0.00005925●●●●●●
125. 7579974 c.3551G>A p.R1184Q missense 0.00005887●●●●●●
126. 7577194 c.2796C>T p.N932N splice site 0.00005854●●●●●●
127. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849●●●●●●
128. 7579569 c.3146C>T p.S1049L missense 0.00005836●●●●●●
129. 7580981 c.4558A>G p.S1520G missense 0.00005826●●●●●●
130. 7581485 c.5062G>A p.A1688T missense 0.00005822●●●●●●
131. 7580379 c.3956C>G p.T1319S missense 0.00005810●●●●●●
132. 7580796 c.4373G>A p.R1458Q missense 0.00005793●●●●●●
133. 7584213 c.6718C>G p.Q2240E missense 0.00005772●●●●●●
134. 7574382 c.2194A>G p.N732D missense 0.00005769●●●●●●
135. 7583008 c.5513G>A p.R1838H missense 0.00005767●●●●●●
136. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
137. 7575559 c.2468C>T p.S823L missense 0.00005766●●●●●●
138. 7584060 c.6565C>T p.R2189W missense 0.00005766●●●●●●
139. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
140. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
141. 7574937 c.2345A>G p.D782G missense 0.00005765●●●●●●
142. 7542194 c.46C>A p.R16S missense 0.00005609●●●●●●
143. 7586002 c.8507G>A p.G2836E missense 0.00005016●●●●●●
144. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011●●●●●●
145. 7580981 c.4558A>T p.S1520C missense 0.00004994●●●●●●
146. 7579761 c.3338G>A p.R1113Q missense 0.00004991●●●●●●
147. 7580494 c.4071G>C p.E1357D missense 0.00004975●●●●●●
148. 7571821 c.1903+4G>A splice site 0.00004958●●●●●●
149. 7585312 c.7817G>A p.S2606N missense 0.00004957●●●●●●
150. 7585668 c.8173C>T p.R2725C missense 0.00004948●●●●●●
151. 7572189 c.2018A>C p.Q673P missense 0.00004945●●●●●●
152. 7576540 c.2644G>A p.E882K missense 0.00004944●●●●●●
153. 7565730 c.916G>A p.A306T missense 0.00004944●●●●●●
154. 7562954 c.667G>A p.G223S missense 0.00004942●●●●●●
155. 7542305 c.157T>C p.S53P missense 0.00004444●●●●●●
156. 7577261 c.2863G>A p.A955T missense 0.00004280●●●●●●
157. 7579557 c.3134G>A p.R1045Q missense 0.00004176●●●●●●
158. 7579748 c.3325G>A p.E1109K missense 0.00004157●●●●●●
159. 7579727 c.3304G>A p.G1102S missense 0.00004154●●●●●●
160. 7585410 c.7915C>T p.R2639W missense 0.00004146●●●●●●
161. 7583742 c.6247C>T p.R2083C missense 0.00004146●●●●●●
162. 7585459 c.7964C>G p.A2655G missense 0.00004145●●●●●●
163. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141●●●●●●
164. 7583289 c.5794C>T p.R1932C missense 0.00004139●●●●●●
165. 7583911 c.6416A>G p.N2139S missense 0.00004132●●●●●●
166. 7584859 c.7364C>T p.T2455I missense 0.00004132●●●●●●
167. 7583974 c.6479G>A p.R2160Q missense 0.00004126●●●●●●
168. 7568821 c.1418A>G p.Q473R missense 0.00004124●●●●●●
169. 7585612 c.8117A>T p.K2706M missense 0.00004123●●●●●●
170. 7575713 c.2622C>G p.I874M missense 0.00004121●●●●●●
171. 7578715 c.3004C>T p.R1002W missense 0.00004121●●●●●●
172. 7572208 c.2037A>G p.I679M missense 0.00004120●●●●●●
173. 7583113 c.5618G>A p.R1873H missense 0.00004120●●●●●●
174. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
175. 7583017 c.5522C>T p.S1841L missense 0.00004119●●●●●●
176. 7578093 c.2959T>A p.S987T missense 0.00004119●●●●●●
177. 7584184 c.6689C>T p.P2230L missense 0.00004119●●●●●●
178. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
179. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
180. 7569580 c.1574+7C>T splice site 0.00004118●●●●●●
181. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
182. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
183. 7569467 c.1468C>T p.R490C missense 0.00004118●●●●●●
184. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
185. 7575660 c.2569G>A p.G857S missense 0.00004118●●●●●●
186. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
187. 7542294 c.146C>T p.T49I missense 0.00004074●●●●●●
188. 7542285 c.137G>A p.G46D missense 0.00003814●●●●●●
189. 7542284 c.136G>A p.G46S missense 0.00003796●●●●●●
190. 7542227 c.79C>T p.R27C missense 0.00003739●●●●●●
191. 7542279 c.131G>C p.R44P missense 0.00003694●●●●●●
192. 7579953 c.3530T>A p.L1177Q missense 0.00003359●●●●●●
193. 7581096 c.4673G>A p.R1558Q missense 0.00003336●●●●●●
194. 7581033 c.4610G>A p.R1537H missense 0.00003331●●●●●●
195. 7580988 c.4565C>T p.T1522M missense 0.00003330●●●●●●
196. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330●●●●●●
197. 7580187 c.3764G>A p.R1255K missense 0.00003329●●●●●●
198. 7580183 c.3760G>A p.V1254I missense 0.00003329●●●●●●
199. 7581420 c.4997G>A p.R1666Q missense 0.00003329●●●●●●
200. 7580300 c.3877A>G p.I1293V missense 0.00003321●●●●●●
201. 7583728 c.6233T>C p.I2078T missense 0.00003321●●●●●●
202. 7580442 c.4019G>A p.R1340H missense 0.00003318●●●●●●
203. 7580837 c.4414G>T p.A1472S missense 0.00003318●●●●●●
204. 7576522 c.2631-5C>T splice site 0.00003314●●●●●●
205. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
206. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
207. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311●●●●●●
208. 7583376 c.5881G>A p.V1961I missense 0.00003309●●●●●●
209. 7585537 c.8042A>C p.D2681A missense 0.00003308●●●●●●
210. 7581606 c.5183G>A p.R1728K missense 0.00003307●●●●●●
211. 7583805 c.6310delA frameshift 0.00003306●●●●●●
212. 7572120 c.1949A>G p.N650S missense 0.00003306●●●●●●
213. 7583892 c.6397G>A p.G2133S missense 0.00003306●●●●●●
214. 7580656 c.4233G>C p.R1411S missense 0.00003306●●●●●●
215. 7583959 c.6464A>G p.D2155G missense 0.00003302●●●●●●
216. 7585804 c.8309A>G p.Y2770C missense 0.00003301●●●●●●
217. 7584260 c.6765G>T p.Q2255H missense 0.00003301●●●●●●
218. 7585728 c.8233A>G p.I2745V missense 0.00003301●●●●●●
219. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300●●●●●●
220. 7585667 c.8172G>T p.Q2724H missense 0.00003299●●●●●●
221. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
222. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
223. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
224. 7576667 c.2771T>C p.M924T missense 0.00003298●●●●●●
225. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
226. 7582907 c.5412G>T p.Q1804H missense 0.00003297●●●●●●
227. 7582909 c.5414G>A p.C1805Y missense 0.00003297●●●●●●
228. 7576571 c.2675G>A p.R892H missense 0.00003296●●●●●●
229. 7576631 c.2735T>C p.L912S missense 0.00003296●●●●●●
230. 7584528 c.7033G>C p.G2345R missense 0.00003296●●●●●●
231. 7578008 c.2878-4G>A splice site 0.00003296●●●●●●
232. 7575643 c.2552T>A p.L851Q missense 0.00003295●●●●●●
233. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
234. 7575640 c.2549_2550insTCT p.D850delinsDL inframe 0.00003295●●●●●●
235. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
236. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
237. 7575631 c.2540C>G p.P847R missense 0.00003295●●●●●●
238. 7584061 c.6566G>A p.R2189Q missense 0.00003295●●●●●●
239. 7558345 c.274-4T>G splice site 0.00003295●●●●●●
240. 7562880 c.598-5C>T splice site 0.00003295●●●●●●
241. 7542209 c.61G>A p.E21K missense 0.00003129●●●●●●
242. 7542263 c.115A>G p.R39G missense 0.00003020●●●●●●
243. 7542255 c.107G>T p.G36V missense 0.00002863●●●●●●
244. 7542255 c.107G>C p.G36A missense 0.00002863●●●●●●
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317. 7577186 c.2794-6G>A splice site 0.00001690●●●●●●
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340. 7577238 c.2840T>C p.V947A missense 0.00001661●●●●●●
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356. 7580492 c.4069_4071delGAG p.Glu1357del inframe 0.00001658●●●●●●
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475. 7581174 c.4751C>T p.A1584V missense 0.00000838●●●●●●
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482. 7579554 c.3131C>T p.A1044V missense 0.00000836●●●●●●
483. 7579896 c.3473T>C p.L1158S missense 0.00000836●●●●●●
484. 7581158 c.4735C>T p.R1579W missense 0.00000836●●●●●●
485. 7581159 c.4736G>A p.R1579Q missense 0.00000836●●●●●●
486. 7581345 c.4922A>G p.D1641G missense 0.00000836●●●●●●
487. 7586026 c.8531G>C p.G2844A missense 0.00000836●●●●●●
488. 7586032 c.8537G>A p.R2846Q missense 0.00000836●●●●●●
489. 7586055 c.8560G>C p.G2854R missense 0.00000836●●●●●●
490. 7586059 c.8564A>T p.N2855I missense 0.00000836●●●●●●
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983. 7585125 c.7630T>G p.F2544V missense 0.00000824●●●●●●
984. 7585143 c.7648G>A p.G2550S missense 0.00000824●●●●●●
985. 7585159 c.7664C>T p.T2555I missense 0.00000824●●●●●●
986. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
987. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
988. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
989. 7585229 c.7734C>G p.S2578R missense 0.00000824●●●●●●
990. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
991. 7585255 c.7760A>G p.H2587R missense 0.00000824●●●●●●
992. 7585627 c.8132A>G p.E2711G missense 0.00000824●●●●●●
993. 7585858 c.8363C>T p.A2788V missense 0.00000824●●●●●●
994. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
995. 7585867 c.8372G>A p.R2791H missense 0.00000824●●●●●●
996. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824●●●●●●
997. 7562883 c.598-2A>G essential splice site 0.00000824●●●●●●
998. 7562884 c.598-1G>C essential splice site 0.00000824●●●●●●
999. 7563014 c.726+1G>A essential splice site 0.00000824●●●●●●
1000. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824●●●●●●
1001. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824●●●●●●
1002. 7575030 c.2436+2T>C essential splice site 0.00000824●●●●●●
1003. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824●●●●●●
1004. 7562887 c.600G>C splice site 0.00000824●●●●●●
1005. 7563017 c.726+4C>T splice site 0.00000824●●●●●●
1006. 7563017 c.726+4C>G splice site 0.00000824●●●●●●
1007. 7563962 c.727-7C>G splice site 0.00000824●●●●●●
1008. 7564024 c.777+5G>A splice site 0.00000824●●●●●●
1009. 7565758 c.939+5G>T splice site 0.00000824●●●●●●
1010. 7569571 c.1572C>T splice site 0.00000824●●●●●●
1011. 7569581 c.1574+8A>G splice site 0.00000824●●●●●●
1012. 7570666 c.1575-4T>G 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.