DPP6 variants in ExAC

DPP6 gene summary
DPP6 variants in

The table below lists the DPP6 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. 154679447 c.2112+3G>A splice site 0.97036522●●●●●●
2. 154684153 c.2369T>C p.L790P missense 0.32084879●●●●●●
3. 154672662 c.1941+10C>T splice site 0.13354625●●●●●●
4. 154677332 c.1942-11G>A splice site 0.01425909●●●●●●
5. 154237613 c.266-4A>G splice site 0.01334524●●●●●●
6. 154519606 c.691+9T>C splice site 0.00891982●●●●●●
7. 154667692 c.1768G>A p.G590S missense 0.00219146●●●●●●
8. 154681250 c.2259+10G>A splice site 0.00156272●●●●●●
9. 154681009 c.2140G>A p.A714T missense 0.00154267●●●●●●
10. 154645534 c.1519A>C p.K507Q missense 0.00104355●●●●●●
11. 154561258 c.823G>T p.V275L missense 0.00088915●●●●●●
12. 154672587 c.1887-11C>T splice site 0.00087783●●●●●●
13. 154237608 c.266-9C>G splice site 0.00048073●●●●●●
14. 154519471 c.571-6A>C splice site 0.00045245●●●●●●
15. 154672661 c.1941+9G>C splice site 0.00033156●●●●●●
16. 154681220 c.2239A>G p.K747E missense 0.00028826●●●●●●
17. 154681010 c.2141C>T p.A714V missense 0.00027173●●●●●●
18. 154585901 c.1057G>A p.V353I missense 0.00021443●●●●●●
19. 154561240 c.805G>A p.G269S missense 0.00017331●●●●●●
20. 154598777 c.1429G>A p.A477T missense 0.00016635●●●●●●
21. 154667672 c.1748C>T p.T583M missense 0.00016581●●●●●●
22. 154664336 c.1624C>G p.L542V missense 0.00015848●●●●●●
23. 154561166 c.731C>T p.P244L missense 0.00015736●●●●●●
24. 154587548 c.1069-7A>G splice site 0.00014695●●●●●●
25. 154684111 c.2327T>A p.I776N missense 0.00014076●●●●●●
26. 154585781 c.945-8G>A splice site 0.00012736●●●●●●
27. 154593135 c.1178G>A p.R393Q missense 0.00011551●●●●●●
28. 154264001 c.435C>T splice site 0.00011265●●●●●●
29. 154561208 c.773G>A p.R258H missense 0.00010827●●●●●●
30. 154659792 c.1610T>C p.I537T missense 0.00010195●●●●●●
31. 154143288 c.52-11G>T splice site 0.00010153●●●●●●
32. 154664401 c.1689G>A p.V563V splice site 0.00009996●●●●●●
33. 154681249 c.2259+9C>A splice site 0.00009761●●●●●●
34. 154561218 c.783C>G p.I261M missense 0.00009218●●●●●●
35. 154561217 c.782T>C p.I261T missense 0.00009213●●●●●●
36. 154561207 c.772C>T p.R258C missense 0.00009159●●●●●●
37. 154598777 c.1429G>T p.A477S missense 0.00008318●●●●●●
38. 154519519 c.613G>A p.G205R missense 0.00008308●●●●●●
39. 154561150 c.715G>A p.A239T missense 0.00008282●●●●●●
40. 154659756 c.1574G>A p.R525Q missense 0.00008169●●●●●●
41. 154677334 c.1942-9T>C splice site 0.00007999●●●●●●
42. 154667696 c.1772C>T p.A591V missense 0.00007810●●●●●●
43. 154677343 c.1942G>A p.D648N missense 0.00007591●●●●●●
44. 153584781 c.13G>C p.A5P missense 0.00007528●●●●●●
45. 154263990 c.424A>G p.N142D missense 0.00006841●●●●●●
46. 154561192 c.757G>A p.A253T missense 0.00006633●●●●●●
47. 154143386 c.139G>A p.V47I missense 0.00006628●●●●●●
48. 154593062 c.1108-3C>T splice site 0.00006296●●●●●●
49. 154667656 c.1732G>A p.E578K missense 0.00006129●●●●●●
50. 154681227 c.2246A>G p.N749S missense 0.00006052●●●●●●
51. 154172041 c.184T>A p.S62T missense 0.00005838●●●●●●
52. 154598732 c.1384C>A p.Q462K missense 0.00005827●●●●●●
53. 154672600 c.1889C>T p.T630M missense 0.00005797●●●●●●
54. 154596679 c.1355+5C>T splice site 0.00005555●●●●●●
55. 153584825 c.51+6T>G splice site 0.00005035●●●●●●
56. 154672588 c.1887-10G>A splice site 0.00004969●●●●●●
57. 154684087 c.2303A>T p.K768I missense 0.00004968●●●●●●
58. 154519474 c.571-3T>C splice site 0.00004878●●●●●●
59. 154593134 c.1177C>T p.R393X nonsense 0.00004600●●●●●●
60. 154680972 c.2113-10G>A splice site 0.00004559●●●●●●
61. 154461162 c.570+11C>A splice site 0.00004267●●●●●●
62. 154645528 c.1513G>A p.D505N missense 0.00004141●●●●●●
63. 154664340 c.1628C>T p.P543L missense 0.00003833●●●●●●
64. 154561264 c.829C>G p.P277A missense 0.00003819●●●●●●
65. 154585866 c.1022T>A p.V341E missense 0.00003724●●●●●●
66. 154561258 c.823G>A p.V275M missense 0.00003705●●●●●●
67. 154680971 c.2113-11C>T splice site 0.00003659●●●●●●
68. 154664379 c.1667C>T p.T556I missense 0.00003657●●●●●●
69. 154677350 c.1949G>A p.G650D missense 0.00003589●●●●●●
70. 154263936 c.370A>G p.R124G missense 0.00003563●●●●●●
71. 154596656 c.1337G>A p.R446Q missense 0.00003497●●●●●●
72. 154264004 c.435+3G>A splice site 0.00003480●●●●●●
73. 154596641 c.1322C>T p.T441M missense 0.00003423●●●●●●
74. 154585806 c.962T>C p.M321T missense 0.00003396●●●●●●
75. 154172024 c.167C>T p.A56V missense 0.00003367●●●●●●
76. 154598804 c.1456T>C p.F486L missense 0.00003335●●●●●●
77. 154519513 c.607C>T p.H203Y missense 0.00003331●●●●●●
78. 154172086 c.229T>G p.F77V missense 0.00003316●●●●●●
79. 154561183 c.748G>A p.A250T missense 0.00003314●●●●●●
80. 154672635 c.1924G>A p.V642M missense 0.00003312●●●●●●
81. 154585920 c.1068+8G>C splice site 0.00003310●●●●●●
82. 154681162 c.2186-5C>T splice site 0.00003119●●●●●●
83. 154677368 c.1967A>C p.Y656S missense 0.00003010●●●●●●
84. 154667806 c.1882G>A p.V628M missense 0.00002957●●●●●●
85. 154593074 c.1117C>G p.P373A missense 0.00002867●●●●●●
86. 154677373 c.1972C>T p.L658F missense 0.00002866●●●●●●
87. 154593165 c.1208C>T p.S403L missense 0.00002785●●●●●●
88. 154659755 c.1573C>T p.R525X nonsense 0.00002741●●●●●●
89. 154667767 c.1843C>T p.R615W missense 0.00002708●●●●●●
90. 154667764 c.1840C>T p.R614W missense 0.00002697●●●●●●
91. 154681001 c.2132G>A p.R711Q missense 0.00002641●●●●●●
92. 154667716 c.1792G>A p.G598S missense 0.00002615●●●●●●
93. 154593158 c.1201G>A p.V401M missense 0.00002588●●●●●●
94. 154263951 c.385G>A p.E129K missense 0.00002580●●●●●●
95. 154595625 c.1267G>A p.V423M missense 0.00002578●●●●●●
96. 154677462 c.2053+8G>A splice site 0.00002550●●●●●●
97. 154429534 c.439T>C p.Y147H missense 0.00002544●●●●●●
98. 153584819 c.51G>T p.M17I missense 0.00002514●●●●●●
99. 153584817 c.49A>C p.M17L missense 0.00002513●●●●●●
100. 154598803 c.1455C>A p.F485L missense 0.00002501●●●●●●
101. 154598721 c.1373A>G p.N458S missense 0.00002500●●●●●●
102. 154143321 c.74C>T p.P25L missense 0.00002491●●●●●●
103. 154677459 c.2053+5A>G splice site 0.00002487●●●●●●
104. 154172104 c.247G>A p.E83K missense 0.00002486●●●●●●
105. 154679379 c.2054-7C>T splice site 0.00002484●●●●●●
106. 154672633 c.1922G>A p.R641H missense 0.00002484●●●●●●
107. 154593099 c.1142A>T p.K381M missense 0.00002305●●●●●●
108. 154593134 c.1177C>G p.R393G missense 0.00002300●●●●●●
109. 154593128 c.1171G>A p.G391R missense 0.00002287●●●●●●
110. 154593107 c.1150T>A p.F384I missense 0.00002256●●●●●●
111. 154677433 c.2032A>G p.I678V missense 0.00002140●●●●●●
112. 154237671 c.320A>G p.E107G missense 0.00002121●●●●●●
113. 154677415 c.2014G>A p.G672S missense 0.00002087●●●●●●
114. 154664331 c.1622-3C>T splice site 0.00002055●●●●●●
115. 154667810 c.1886G>A p.R629Q missense 0.00001995●●●●●●
116. 154664400 c.1688T>C p.V563A missense 0.00001982●●●●●●
117. 154664344 c.1632G>A p.M544I missense 0.00001886●●●●●●
118. 154585865 c.1021G>A p.V341M missense 0.00001859●●●●●●
119. 154664381 c.1669C>A p.H557N missense 0.00001846●●●●●●
120. 154596674 c.1355G>C p.S452T missense 0.00001835●●●●●●
121. 154585856 c.1012G>T p.A338S missense 0.00001827●●●●●●
122. 154680975 c.2113-7T>C splice site 0.00001806●●●●●●
123. 154667765 c.1841G>A p.R614Q missense 0.00001802●●●●●●
124. 154561252 c.817C>A p.P273T missense 0.00001799●●●●●●
125. 154681051 c.2182G>A p.D728N missense 0.00001764●●●●●●
126. 154667715 c.1791C>A p.D597E missense 0.00001742●●●●●●
127. 154564637 c.929A>C p.D310A missense 0.00001736●●●●●●
128. 154667695 c.1771G>A p.A591T missense 0.00001736●●●●●●
129. 154263946 c.380G>A p.R127K missense 0.00001735●●●●●●
130. 154264002 c.435+1G>A essential splice site 0.00001735●●●●●●
131. 154564631 c.923C>T p.P308L missense 0.00001730●●●●●●
132. 154263965 c.399T>G p.D133E missense 0.00001703●●●●●●
133. 154561216 c.781A>G p.I261V missense 0.00001673●●●●●●
134. 154598712 c.1364C>T p.T455M missense 0.00001671●●●●●●
135. 154519514 c.608A>T p.H203L missense 0.00001664●●●●●●
136. 154561122 c.692-5C>G splice site 0.00001657●●●●●●
137. 154143393 c.146C>T p.S49L missense 0.00001657●●●●●●
138. 154561146 c.711C>A p.H237Q missense 0.00001656●●●●●●
139. 154645511 c.1496C>T p.T499M missense 0.00001656●●●●●●
140. 154672630 c.1919C>T p.T640M missense 0.00001656●●●●●●
141. 154659740 c.1558A>G p.K520E missense 0.00001481●●●●●●
142. 154659786 c.1604T>C p.I535T missense 0.00001434●●●●●●
143. 154659746 c.1564A>G p.I522V missense 0.00001419●●●●●●
144. 154659750 c.1568A>T p.N523I missense 0.00001394●●●●●●
145. 154681247 c.2259+7T>C splice site 0.00001389●●●●●●
146. 154681156 c.2186-11T>A splice site 0.00001385●●●●●●
147. 154659768 c.1586A>C p.K529T missense 0.00001368●●●●●●
148. 154681175 c.2194C>A p.H732N missense 0.00001323●●●●●●
149. 154237711 c.360T>G p.I120M missense 0.00001306●●●●●●
150. 154237708 c.357A>T p.K119N missense 0.00001291●●●●●●
151. 154667624 c.1700C>G p.T567S missense 0.00001265●●●●●●
152. 154237614 c.266-3C>T splice site 0.00001244●●●●●●
153. 154667626 c.1702C>A p.P568T missense 0.00001233●●●●●●
154. 154237688 c.337G>A p.V113I missense 0.00001141●●●●●●
155. 154237625 c.274T>C p.F92L missense 0.00001136●●●●●●
156. 154585919 c.1068+7G>T splice site 0.00001104●●●●●●
157. 154564549 c.847-6C>T splice site 0.00001076●●●●●●
158. 154237665 c.314A>C p.N105T missense 0.00001044●●●●●●
159. 154237650 c.299C>G p.T100R missense 0.00001043●●●●●●
160. 154237652 c.301G>A p.V101M missense 0.00001042●●●●●●
161. 154587561 c.1075G>A p.E359K missense 0.00001011●●●●●●
162. 154564555 c.847G>T p.A283S missense 0.00001003●●●●●●
163. 154587601 c.1107+8C>T splice site 0.00000998●●●●●●
164. 154587568 c.1082A>G p.E361G missense 0.00000994●●●●●●
165. 154587591 c.1105C>T p.Q369X nonsense 0.00000991●●●●●●
166. 154561267 c.832T>C p.Y278H missense 0.00000970●●●●●●
167. 154585873 c.1029C>G p.I343M missense 0.00000947●●●●●●
168. 154595672 c.1307+7G>A splice site 0.00000945●●●●●●
169. 154585864 c.1020C>G p.N340K missense 0.00000929●●●●●●
170. 154667782 c.1858G>A p.E620K missense 0.00000923●●●●●●
171. 154667781 c.1857_1859delGGA p.Glu621del inframe 0.00000919●●●●●●
172. 154595665 c.1307T>C p.I436T missense 0.00000918●●●●●●
173. 154595664 c.1306A>T p.I436F missense 0.00000915●●●●●●
174. 154595659 c.1301A>G p.N434S missense 0.00000905●●●●●●
175. 154667768 c.1844G>A p.R615Q missense 0.00000905●●●●●●
176. 154561253 c.818C>G p.P273R missense 0.00000905●●●●●●
177. 154667633 c.1709G>A p.S570N missense 0.00000901●●●●●●
178. 154564575 c.867C>G p.S289R missense 0.00000899●●●●●●
179. 154595654 c.1296G>C p.K432N missense 0.00000893●●●●●●
180. 154667755 c.1831G>A p.E611K missense 0.00000888●●●●●●
181. 154681053 c.2184T>C p.D728D splice site 0.00000884●●●●●●
182. 154667752 c.1828C>T p.H610Y missense 0.00000883●●●●●●
183. 154519496 c.590A>G p.N197S missense 0.00000883●●●●●●
184. 154595646 c.1288G>A p.D430N missense 0.00000881●●●●●●
185. 154681000 c.2131C>G p.R711G missense 0.00000881●●●●●●
186. 154561244 c.809C>T p.S270F missense 0.00000878●●●●●●
187. 154264008 c.435+7A>G splice site 0.00000878●●●●●●
188. 154667743 c.1819A>C p.K607Q missense 0.00000878●●●●●●
189. 154667744 c.1820A>C p.K607T missense 0.00000878●●●●●●
190. 154667650 c.1726A>G p.K576E missense 0.00000877●●●●●●
191. 154681010 c.2141C>A p.A714E missense 0.00000877●●●●●●
192. 154667740 c.1816A>G p.T606A missense 0.00000876●●●●●●
193. 154681046 c.2177C>T p.T726I missense 0.00000876●●●●●●
194. 154564645 c.937C>T p.R313W missense 0.00000875●●●●●●
195. 154595576 c.1218C>G splice site 0.00000874●●●●●●
196. 154564588 c.880G>A p.V294I missense 0.00000874●●●●●●
197. 154667675 c.1751T>C p.V584A missense 0.00000871●●●●●●
198. 154667683 c.1759A>G p.S587G missense 0.00000871●●●●●●
199. 154585830 c.986A>G p.K329R missense 0.00000867●●●●●●
200. 154263993 c.427G>A p.V143M missense 0.00000860●●●●●●
201. 154564601 c.893A>G p.N298S missense 0.00000860●●●●●●
202. 154564606 c.898C>T p.P300S missense 0.00000858●●●●●●
203. 154564607 c.899C>G p.P300R missense 0.00000857●●●●●●
204. 154564610 c.902C>T p.T301I missense 0.00000857●●●●●●
205. 154595613 c.1255G>A p.G419R missense 0.00000856●●●●●●
206. 154263991 c.425A>G p.N142S missense 0.00000856●●●●●●
207. 154595610 c.1252T>A p.S418T missense 0.00000855●●●●●●
208. 154561232 c.797C>A p.T266N missense 0.00000855●●●●●●
209. 154595604 c.1246A>C p.I416L missense 0.00000855●●●●●●
210. 154561232 c.797C>G p.T266S missense 0.00000855●●●●●●
211. 154263981 c.415T>C p.F139L missense 0.00000851●●●●●●
212. 154263969 c.403G>C p.E135Q missense 0.00000850●●●●●●
213. 154143292 c.52-7T>C splice site 0.00000842●●●●●●
214. 154172025 c.168G>A splice site 0.00000841●●●●●●
215. 154598696 c.1356-8T>C splice site 0.00000840●●●●●●
216. 154598823 c.1474+1G>T essential splice site 0.00000840●●●●●●
217. 154172029 c.172G>A p.D58N missense 0.00000839●●●●●●
218. 153584826 c.51+7G>T splice site 0.00000839●●●●●●
219. 153584773 c.5A>G p.K2R missense 0.00000838●●●●●●
220. 153584775 c.7G>A p.E3K missense 0.00000838●●●●●●
221. 153584802 c.34A>G p.M12V missense 0.00000837●●●●●●
222. 153584779 c.11A>G p.K4R missense 0.00000837●●●●●●
223. 153584809 c.41G>A p.G14E missense 0.00000837●●●●●●
224. 153584784 c.16A>T p.M6L missense 0.00000836●●●●●●
225. 154598814 c.1466A>T p.K489M missense 0.00000836●●●●●●
226. 154172047 c.190_192delAAG p.Lys66del inframe 0.00000833●●●●●●
227. 154172045 c.188A>G p.Q63R missense 0.00000833●●●●●●
228. 154598734 c.1386G>C p.Q462H missense 0.00000832●●●●●●
229. 154172053 c.196A>C p.K66Q missense 0.00000831●●●●●●
230. 154598760 c.1412A>C p.N471T missense 0.00000831●●●●●●
231. 154143416 c.166+3A>G splice site 0.00000830●●●●●●
232. 154519605 c.691+8G>A splice site 0.00000830●●●●●●
233. 154143419 c.166+6G>A splice site 0.00000830●●●●●●
234. 154561199 c.764A>T p.N255I missense 0.00000830●●●●●●
235. 154519592 c.686A>G p.Y229C missense 0.00000830●●●●●●
236. 154672655 c.1941+3G>A splice site 0.00000829●●●●●●
237. 154519534 c.628C>T p.R210C missense 0.00000829●●●●●●
238. 154561121 c.692-6C>T splice site 0.00000829●●●●●●
239. 154519537 c.631G>A p.V211M missense 0.00000829●●●●●●
240. 154519546 c.640A>C p.T214P missense 0.00000829●●●●●●
241. 154143335 c.88A>G p.K30E missense 0.00000829●●●●●●
242. 154561122 c.692-5C>T splice site 0.00000829●●●●●●
243. 154519535 c.629G>A p.R210H missense 0.00000829●●●●●●
244. 154172092 c.235A>C p.I79L missense 0.00000829●●●●●●
245. 154519589 c.683T>C p.L228P missense 0.00000829●●●●●●
246. 154684041 c.2260-3C>T splice site 0.00000829●●●●●●
247. 154143342 c.95T>C p.I32T missense 0.00000829●●●●●●
248. 154561119 c.692-8T>C splice site 0.00000829●●●●●●
249. 154519528 c.622G>T p.A208S missense 0.00000829●●●●●●
250. 154561180 c.745_746delCT p.Leu249ArgfsTer7 frameshift 0.00000828●●●●●●
251. 154684165 c.2381C>T p.A794V missense 0.00000828●●●●●●
252. 154684068 c.2284T>C p.F762L missense 0.00000828●●●●●●
253. 154143371 c.124A>G p.I42V missense 0.00000828●●●●●●
254. 154561175 c.740C>T p.T247M missense 0.00000828●●●●●●
255. 154679442 c.2110G>A p.E704K missense 0.00000828●●●●●●
256. 154672623 c.1912G>C p.D638H missense 0.00000828●●●●●●
257. 154684125 c.2341G>A p.E781K missense 0.00000828●●●●●●
258. 154672652 c.1941G>A p.K647K splice site 0.00000828●●●●●●
259. 154684093 c.2309A>G p.H770R missense 0.00000828●●●●●●
260. 154684077 c.2293T>C p.S765P missense 0.00000828●●●●●●
261. 154672593 c.1887-5C>T splice site 0.00000828●●●●●●
262. 154672627 c.1916G>A p.R639K missense 0.00000828●●●●●●
263. 154672639 c.1928C>G p.A643G missense 0.00000828●●●●●●
264. 154684127 c.2343A>C p.E781D missense 0.00000828●●●●●●
265. 154679392 c.2060C>T p.A687V missense 0.00000828●●●●●●
266. 154561163 c.728C>T p.S243F missense 0.00000828●●●●●●
267. 154645486 c.1475-4A>G splice site 0.00000828●●●●●●
268. 154672614 c.1903delC p.Gln635SerfsTer19 frameshift 0.00000828●●●●●●
269. 154684101 c.2317C>T p.R773W missense 0.00000828●●●●●●
270. 154645516 c.1501C>T p.H501Y missense 0.00000828●●●●●●
271. 154679391 c.2059G>A p.A687T missense 0.00000828●●●●●●
272. 154672641 c.1930G>A p.V644M missense 0.00000828●●●●●●
273. 154684150 c.2366T>A p.L789Q missense 0.00000828●●●●●●
274. 154684082 c.2298C>A p.S766R missense 0.00000828●●●●●●
275. 154684055 c.2271C>G p.D757E missense 0.00000828●●●●●●
276. 154561165 c.730C>A p.P244T missense 0.00000828●●●●●●
277. 154672592 c.1887-6T>C splice site 0.00000828●●●●●●
278. 154684114 c.2330A>G p.N777S missense 0.00000828●●●●●●
279. 154672632 c.1921C>T p.R641C missense 0.00000828●●●●●●

* 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.