DNAJC1 variants in ExAC

DNAJC1 gene summary
DNAJC1 variants in

The table below lists the DNAJC1 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. 22292249 c.115_117delCTG p.L39del1 inframe 0.01544872●●●●●●
2. 22292281 c.83G>A p.R28Q missense 0.00744346●●●●●●
3. 22292290 c.74_76delCGC p.Pro27del inframe 0.00486688●●●●●●
4. 22292290 c.74_83delCGCCGCCGCGinsCGCCGCCGCCG p.Arg28ProfsTer30 frameshift 0.00372173●●●●●●
5. 22048096 c.1596+3G>A splice site 0.00167630●●●●●●
6. 22292351 c.13T>C p.C5R missense 0.00125945●●●●●●
7. 22208753 c.635+8C>G splice site 0.00124305●●●●●●
8. 22209885 c.379G>A p.D127N missense 0.00074919●●●●●●
9. 22209876 c.388A>G p.I130V missense 0.00047300●●●●●●
10. 22193497 c.774G>C p.K258N missense 0.00031267●●●●●●
11. 22292249 c.115_117dupCTG p.Leu39dup inframe 0.00025641●●●●●●
12. 22193508 c.763A>G p.T255A missense 0.00025560●●●●●●
13. 22048272 c.1423G>C p.E475Q missense 0.00019768●●●●●●
14. 22048331 c.1364C>T p.A455V missense 0.00017303●●●●●●
15. 22171224 c.965C>T p.T322I missense 0.00016585●●●●●●
16. 22048467 c.1228A>G p.M410V missense 0.00011664●●●●●●
17. 22292175 c.189G>C p.Q63H missense 0.00011502●●●●●●
18. 22094922 c.1085G>A p.R362Q missense 0.00010729●●●●●●
19. 22048118 c.1577G>A p.C526Y missense 0.00009966●●●●●●
20. 22048296 c.1399C>T p.R467W missense 0.00009885●●●●●●
21. 22218066 c.227C>T p.A76V missense 0.00009437●●●●●●
22. 22292227 c.137G>C p.R46P missense 0.00008925●●●●●●
23. 22292164 c.200A>G p.Y67C missense 0.00008873●●●●●●
24. 22171227 c.962G>A p.R321Q missense 0.00008289●●●●●●
25. 22292135 c.222+7A>G splice site 0.00007359●●●●●●
26. 22292153 c.211G>T p.G71W missense 0.00006641●●●●●●
27. 22048407 c.1288T>G p.S430A missense 0.00006607●●●●●●
28. 22048140 c.1555C>A p.R519S missense 0.00005772●●●●●●
29. 22048208 c.1487C>T p.P496L missense 0.00005766●●●●●●
30. 22207698 c.729+10A>C splice site 0.00005079●●●●●●
31. 22048440 c.1255G>T p.G419W missense 0.00004976●●●●●●
32. 22048350 c.1345A>G p.R449G missense 0.00004945●●●●●●
33. 22048223 c.1472G>A p.R491Q missense 0.00004942●●●●●●
34. 22292177 c.187C>T p.Q63X nonsense 0.00004622●●●●●●
35. 22292225 c.139G>A p.G47S missense 0.00004453●●●●●●
36. 22048490 c.1205C>T p.T402M missense 0.00004190●●●●●●
37. 22209894 c.372-2A>G essential splice site 0.00004181●●●●●●
38. 22048118 c.1577G>T p.C526F missense 0.00004152●●●●●●
39. 22048446 c.1249G>A p.A417T missense 0.00004151●●●●●●
40. 22209830 c.434G>A p.R145Q missense 0.00004128●●●●●●
41. 22048373 c.1322G>A p.R441Q missense 0.00004124●●●●●●
42. 22055231 c.1106C>G p.T369S missense 0.00004120●●●●●●
43. 22217997 c.296A>G p.D99G missense 0.00003425●●●●●●
44. 22193465 c.806T>C p.L269P missense 0.00003388●●●●●●
45. 22193492 c.779A>G p.K260R missense 0.00003375●●●●●●
46. 22048389 c.1306G>A p.G436R missense 0.00003302●●●●●●
47. 22048383 c.1312A>G p.T438A missense 0.00003300●●●●●●
48. 22217968 c.324+1G>A essential splice site 0.00003031●●●●●●
49. 22292204 c.160G>C p.E54Q missense 0.00002912●●●●●●
50. 22193511 c.760G>A p.E254K missense 0.00002557●●●●●●
51. 22171204 c.978+7A>C splice site 0.00002519●●●●●●
52. 22292191 c.173T>C p.L58S missense 0.00002506●●●●●●
53. 22048473 c.1222G>A p.D408N missense 0.00002502●●●●●●
54. 22171330 c.859G>A p.V287I missense 0.00002501●●●●●●
55. 22208770 c.626A>G p.K209R missense 0.00002490●●●●●●
56. 22094975 c.1032G>C p.K344N missense 0.00002479●●●●●●
57. 22209750 c.514T>G p.S172A missense 0.00002477●●●●●●
58. 22048377 c.1318G>T p.A440S missense 0.00002474●●●●●●
59. 22209795 c.469C>T p.L157F missense 0.00002474●●●●●●
60. 22045621 c.1660A>G p.S554G missense 0.00002474●●●●●●
61. 22292189 c.175G>C p.V59L missense 0.00002473●●●●●●
62. 22048325 c.1370C>T p.P457L missense 0.00002472●●●●●●
63. 22055238 c.1099G>A p.V367M missense 0.00002472●●●●●●
64. 22292173 c.191T>A p.L64H missense 0.00002267●●●●●●
65. 22292164 c.200A>C p.Y67S missense 0.00002218●●●●●●
66. 22193544 c.730-3A>C splice site 0.00001859●●●●●●
67. 22217979 c.314A>T p.Q105L missense 0.00001812●●●●●●
68. 22217980 c.313C>T p.Q105X nonsense 0.00001803●●●●●●
69. 22095030 c.979-2A>G essential splice site 0.00001744●●●●●●
70. 22048544 c.1151T>G p.M384R missense 0.00001741●●●●●●
71. 22048541 c.1154T>G p.V385G missense 0.00001735●●●●●●
72. 22048530 c.1165G>A p.E389K missense 0.00001715●●●●●●
73. 22193454 c.817C>A p.Q273K missense 0.00001709●●●●●●
74. 22193511 c.760_763delGAAA p.Glu254GlnfsTer3 frameshift 0.00001699●●●●●●
75. 22095025 c.982C>T p.P328S missense 0.00001689●●●●●●
76. 22207701 c.729+7T>C splice site 0.00001685●●●●●●
77. 22218036 c.257G>A p.R86H missense 0.00001677●●●●●●
78. 22207801 c.636A>G splice site 0.00001670●●●●●●
79. 22048472 c.1223A>G p.D408G missense 0.00001668●●●●●●
80. 22207792 c.645G>A p.M215I missense 0.00001666●●●●●●
81. 22208759 c.635+2T>A essential splice site 0.00001664●●●●●●
82. 22208831 c.565_566delGA p.Glu189LysfsTer22 frameshift 0.00001664●●●●●●
83. 22207784 c.653A>G p.Q218R missense 0.00001663●●●●●●
84. 22208818 c.578A>G p.K193R missense 0.00001661●●●●●●
85. 22207764 c.673T>C p.C225R missense 0.00001659●●●●●●
86. 22208783 c.613G>A p.G205S missense 0.00001658●●●●●●
87. 22209872 c.392A>G p.N131S missense 0.00001658●●●●●●
88. 22048433 c.1262C>T p.A421V missense 0.00001656●●●●●●
89. 22094992 c.1015A>G p.T339A missense 0.00001654●●●●●●
90. 22171250 c.939T>G p.D313E missense 0.00001653●●●●●●
91. 22209854 c.410G>A p.R137Q missense 0.00001653●●●●●●
92. 22209855 c.409C>T p.R137X nonsense 0.00001653●●●●●●
93. 22094937 c.1070C>T p.A357V missense 0.00001651●●●●●●
94. 22094923 c.1084C>T p.R362X nonsense 0.00001651●●●●●●
95. 22094938 c.1069G>T p.A357S missense 0.00001651●●●●●●
96. 22209819 c.445A>C p.M149L missense 0.00001650●●●●●●
97. 22094904 c.1098+5G>A splice site 0.00001650●●●●●●
98. 22217445 c.361C>T p.R121X nonsense 0.00001650●●●●●●
99. 22055191 c.1146A>G splice site 0.00001648●●●●●●
100. 22048233 c.1462G>T p.E488X nonsense 0.00001647●●●●●●
101. 22048228 c.1467_1468delAG p.Arg489SerfsTer29 frameshift 0.00001647●●●●●●
102. 22171372 c.821-4T>G splice site 0.00000956●●●●●●
103. 22193544 c.730-3A>G splice site 0.00000930●●●●●●
104. 22193542 c.730-1G>C essential splice site 0.00000922●●●●●●
105. 22193540 c.731A>G p.D244G missense 0.00000914●●●●●●
106. 22095034 c.979-6T>G splice site 0.00000894●●●●●●
107. 22217983 c.310A>G p.T104A missense 0.00000891●●●●●●
108. 22218077 c.223-7C>T splice site 0.00000884●●●●●●
109. 22095032 c.979-4G>T splice site 0.00000881●●●●●●
110. 22217988 c.305C>T p.A102V missense 0.00000875●●●●●●
111. 22218073 c.223-3C>T splice site 0.00000875●●●●●●
112. 22217988 c.305C>G p.A102G missense 0.00000875●●●●●●
113. 22048547 c.1148G>A p.G383E missense 0.00000872●●●●●●
114. 22218070 c.223G>T p.D75Y missense 0.00000864●●●●●●
115. 22048532 c.1163C>T p.S388F missense 0.00000859●●●●●●
116. 22217997 c.296A>T p.D99V missense 0.00000856●●●●●●
117. 22193452 c.819A>G splice site 0.00000856●●●●●●
118. 22193503 c.768A>T p.R256S missense 0.00000848●●●●●●
119. 22208864 c.538-6A>G splice site 0.00000848●●●●●●
120. 22193504 c.767G>A p.R256K missense 0.00000848●●●●●●
121. 22208861 c.538-3A>T splice site 0.00000847●●●●●●
122. 22048102 c.1593C>G p.S531R missense 0.00000847●●●●●●
123. 22208860 c.538-2A>G essential splice site 0.00000846●●●●●●
124. 22193501 c.770T>G p.L257W missense 0.00000846●●●●●●
125. 22171342 c.847C>T p.P283S missense 0.00000844●●●●●●
126. 22193487 c.784G>A p.D262N missense 0.00000844●●●●●●
127. 22193484 c.787G>T p.A263S missense 0.00000843●●●●●●
128. 22193486 c.785A>G p.D262G missense 0.00000843●●●●●●
129. 22095022 c.985G>A p.E329K missense 0.00000843●●●●●●
130. 22193474 c.797G>C p.R266T missense 0.00000843●●●●●●
131. 22193485 c.786T>A p.D262E missense 0.00000842●●●●●●
132. 22048500 c.1195C>T p.P399S missense 0.00000840●●●●●●
133. 22208849 c.547C>G p.L183V missense 0.00000840●●●●●●
134. 22218040 c.253T>C p.Y85H missense 0.00000839●●●●●●
135. 22218019 c.274T>A p.L92I missense 0.00000839●●●●●●
136. 22048497 c.1198A>G p.I400V missense 0.00000839●●●●●●
137. 22095021 c.986A>C p.E329A missense 0.00000838●●●●●●
138. 22208841 c.555A>C p.R185S missense 0.00000835●●●●●●
139. 22048112 c.1583C>T p.P528L missense 0.00000835●●●●●●
140. 22171334 c.855T>A p.F285L missense 0.00000834●●●●●●
141. 22207799 c.638T>G p.L213W missense 0.00000834●●●●●●
142. 22207778 c.659A>T p.H220L missense 0.00000831●●●●●●
143. 22048455 c.1240C>T p.R414X nonsense 0.00000831●●●●●●
144. 22048454 c.1241G>A p.R414Q missense 0.00000831●●●●●●
145. 22048454 c.1241G>C p.R414P missense 0.00000831●●●●●●
146. 22208767 c.629delA p.Asn210MetfsTer5 frameshift 0.00000831●●●●●●
147. 22208818 c.578A>T p.K193M missense 0.00000831●●●●●●
148. 22209881 c.383T>C p.I128T missense 0.00000831●●●●●●
149. 22208821 c.575A>G p.K192R missense 0.00000830●●●●●●
150. 22171221 c.968A>G p.Q323R missense 0.00000830●●●●●●
151. 22048119 c.1576T>C p.C526R missense 0.00000830●●●●●●
152. 22209879 c.385C>A p.L129M missense 0.00000830●●●●●●
153. 22048439 c.1256G>A p.G419E missense 0.00000829●●●●●●
154. 22207747 c.690G>C p.W230C missense 0.00000829●●●●●●
155. 22208812 c.584G>A p.G195D missense 0.00000829●●●●●●
156. 22048440 c.1255G>C p.G419R missense 0.00000829●●●●●●
157. 22208776 c.620C>T p.S207L missense 0.00000829●●●●●●
158. 22048122 c.1573delA p.Arg525AspfsTer36 frameshift 0.00000829●●●●●●
159. 22207752 c.685A>C p.I229L missense 0.00000829●●●●●●
160. 22207741 c.696C>A p.C232X nonsense 0.00000829●●●●●●
161. 22208809 c.587G>T p.S196I missense 0.00000829●●●●●●
162. 22207754 c.683G>T p.G228V missense 0.00000829●●●●●●
163. 22209869 c.395G>C p.G132A missense 0.00000828●●●●●●
164. 22048430 c.1265C>T p.A422V missense 0.00000828●●●●●●
165. 22171296 c.893C>T p.S298F missense 0.00000827●●●●●●
166. 22045686 c.1597-2A>G essential splice site 0.00000827●●●●●●
167. 22048422 c.1273G>A p.E425K missense 0.00000827●●●●●●
168. 22171249 c.940G>A p.D314N missense 0.00000827●●●●●●
169. 22171299 c.890A>G p.Q297R missense 0.00000827●●●●●●
170. 22045687 c.1597-3C>G splice site 0.00000827●●●●●●
171. 22048426 c.1269G>C p.E423D missense 0.00000827●●●●●●
172. 22171247 c.942T>G p.D314E missense 0.00000827●●●●●●
173. 22217489 c.325-8T>C splice site 0.00000827●●●●●●
174. 22094964 c.1043G>A p.G348E missense 0.00000826●●●●●●
175. 22045677 c.1604G>A p.C535Y missense 0.00000826●●●●●●
176. 22094968 c.1039G>A p.G347R missense 0.00000826●●●●●●
177. 22094952 c.1055G>A p.R352Q missense 0.00000826●●●●●●
178. 22094959 c.1048C>T p.P350S missense 0.00000826●●●●●●
179. 22217487 c.325-6T>A splice site 0.00000826●●●●●●
180. 22217478 c.328G>C p.V110L missense 0.00000826●●●●●●
181. 22171285 c.904G>C p.G302R missense 0.00000826●●●●●●
182. 22094953 c.1054C>G p.R352G missense 0.00000826●●●●●●
183. 22048362 c.1333C>T p.R445W missense 0.00000825●●●●●●
184. 22217463 c.343G>C p.V115L missense 0.00000825●●●●●●
185. 22048407 c.1288_1304delTCCGGTGAGCAGGAGAC p.Ser430ArgfsTer4 frameshift 0.00000825●●●●●●
186. 22217468 c.338A>G p.Y113C missense 0.00000825●●●●●●
187. 22209794 c.470T>C p.L157P missense 0.00000825●●●●●●
188. 22045677 c.1604_1605delGT p.Cys535TyrfsTer3 frameshift 0.00000825●●●●●●
189. 22048367 c.1328G>A p.R443Q missense 0.00000825●●●●●●
190. 22094932 c.1075G>A p.E359K missense 0.00000825●●●●●●
191. 22048374 c.1321C>T p.R441W missense 0.00000825●●●●●●
192. 22094935 c.1072C>T p.H358Y missense 0.00000825●●●●●●
193. 22217444 c.362G>A p.R121Q missense 0.00000825●●●●●●
194. 22217436 c.370_371delAG p.Arg124ValfsTer2 frameshift 0.00000825●●●●●●
195. 22209812 c.452A>C p.N151T missense 0.00000825●●●●●●
196. 22209786 c.478A>T p.I160F missense 0.00000825●●●●●●
197. 22045675 c.1606A>G p.I536V missense 0.00000825●●●●●●
198. 22048140 c.1555C>T p.R519C missense 0.00000825●●●●●●
199. 22048251 c.1444G>A p.E482K missense 0.00000824●●●●●●
200. 22048226 c.1469C>T p.A490V missense 0.00000824●●●●●●
201. 22048151 c.1544G>T p.G515V missense 0.00000824●●●●●●
202. 22055196 c.1141T>A p.S381T missense 0.00000824●●●●●●
203. 22048295 c.1400G>A p.R467Q missense 0.00000824●●●●●●
204. 22048263 c.1432G>A p.E478K missense 0.00000824●●●●●●
205. 22048152 c.1543G>A p.G515R missense 0.00000824●●●●●●
206. 22055205 c.1132G>T p.V378L missense 0.00000824●●●●●●
207. 22048334 c.1361C>T p.T454I missense 0.00000824●●●●●●
208. 22048212 c.1483G>A p.E495K missense 0.00000824●●●●●●
209. 22048278 c.1417A>G p.I473V missense 0.00000824●●●●●●
210. 22048145 c.1550C>G p.S517C missense 0.00000824●●●●●●
211. 22048161 c.1534T>G p.Y512D missense 0.00000824●●●●●●
212. 22045638 c.1643A>C p.K548T missense 0.00000824●●●●●●
213. 22048361 c.1334G>A p.R445Q missense 0.00000824●●●●●●
214. 22048238 c.1457G>A p.R486K missense 0.00000824●●●●●●
215. 22048224 c.1471C>T p.R491W missense 0.00000824●●●●●●
216. 22055193 c.1144C>G p.P382A missense 0.00000824●●●●●●
217. 22045658 c.1623G>T p.L541F missense 0.00000824●●●●●●
218. 22048277 c.1418T>C p.I473T missense 0.00000824●●●●●●
219. 22048172 c.1523C>T p.A508V missense 0.00000824●●●●●●
220. 22055191 c.1146A>C splice site 0.00000824●●●●●●
221. 22055238 c.1099G>C p.V367L 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.