JPH2 variants in ExAC

JPH2 gene summary
JPH2 variants in

The table below lists the JPH2 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. 42747247 c.1186G>A p.A396T missense 0.18457619●●●●●●
2. 42744802 c.1513G>A p.G505S missense 0.05298013●●●●●●
3. 42745033 c.1289-7C>T splice site 0.01251251●●●●●●
4. 42789056 c.380-9C>G splice site 0.00513073●●●●●●
5. 42789053 c.380-6C>T splice site 0.00414382●●●●●●
6. 42788855 c.572C>G p.P191R missense 0.00277778●●●●●●
7. 42788571 c.856A>G p.T286A missense 0.00127084●●●●●●
8. 42788790 c.637C>T p.R213W missense 0.00112057●●●●●●
9. 42788766 c.661T>C p.F221L missense 0.00108992●●●●●●
10. 42744891 c.1424G>A p.R475H missense 0.00079114●●●●●●
11. 42788607 c.820G>A p.D274N missense 0.00065154●●●●●●
12. 42747229 c.1204G>A p.E402K missense 0.00033054●●●●●●
13. 42788865 c.562C>T p.P188S missense 0.00028523●●●●●●
14. 42744463 c.1852A>G p.T618A missense 0.00023003●●●●●●
15. 42744492 c.1823C>G p.T608R missense 0.00020512●●●●●●
16. 42815218 c.128A>G p.N43S missense 0.00019040●●●●●●
17. 42744544 c.1771G>A p.G591R missense 0.00017963●●●●●●
18. 42788910 c.517G>T p.G173C missense 0.00017562●●●●●●
19. 42788265 c.1162G>A p.A388T missense 0.00015823●●●●●●
20. 42788970 c.457G>A p.V153M missense 0.00014394●●●●●●
21. 42788762 c.665A>G p.Q222R missense 0.00012658●●●●●●
22. 42788759 c.668G>C p.R223P missense 0.00012069●●●●●●
23. 42788756 c.671G>C p.G224A missense 0.00011699●●●●●●
24. 42788735 c.692G>A p.R231Q missense 0.00009477●●●●●●
25. 42744519 c.1796C>G p.P599R missense 0.00009370●●●●●●
26. 42744294 c.2010+11C>T splice site 0.00009215●●●●●●
27. 42788589 c.838G>A p.E280K missense 0.00008974●●●●●●
28. 42744738 c.1577C>T p.P526L missense 0.00008741●●●●●●
29. 42788412 c.1015G>A p.G339S missense 0.00008431●●●●●●
30. 42788927 c.500G>A p.R167H missense 0.00008101●●●●●●
31. 42788610 c.817G>A p.A273T missense 0.00007987●●●●●●
32. 42744601 c.1714C>T p.R572C missense 0.00007274●●●●●●
33. 42744448 c.1867G>C p.E623Q missense 0.00007252●●●●●●
34. 42744595 c.1720A>G p.T574A missense 0.00007126●●●●●●
35. 42744586 c.1729G>A p.E577K missense 0.00007107●●●●●●
36. 42744507 c.1808C>T p.P603L missense 0.00006895●●●●●●
37. 42747220 c.1213G>A p.A405T missense 0.00006610●●●●●●
38. 42788984 c.443C>T p.P148L missense 0.00006608●●●●●●
39. 42743474 c.2053A>G p.I685V missense 0.00006283●●●●●●
40. 42788339 c.1088G>T p.R363L missense 0.00005899●●●●●●
41. 42788957 c.470C>T p.S157L missense 0.00005835●●●●●●
42. 42744690 c.1625G>A p.R542H missense 0.00005589●●●●●●
43. 42744419 c.1896G>C p.E632D missense 0.00005195●●●●●●
44. 42744379 c.1936A>T p.T646S missense 0.00005066●●●●●●
45. 42788365 c.1062G>C p.M354I missense 0.00005005●●●●●●
46. 42747166 c.1267G>T p.A423S missense 0.00004957●●●●●●
47. 42744717 c.1598G>A p.R533H missense 0.00004890●●●●●●
48. 42744583 c.1732C>A p.P578T missense 0.00004752●●●●●●
49. 42744663 c.1652C>T p.P551L missense 0.00004663●●●●●●
50. 42744648 c.1667G>A p.R556Q missense 0.00004502●●●●●●
51. 42744358 c.1957_1959delAAG p.Lys653del inframe 0.00004200●●●●●●
52. 42788349 c.1078A>C p.N360H missense 0.00004191●●●●●●
53. 42747151 c.1282C>T p.Q428X nonsense 0.00004135●●●●●●
54. 42747231 c.1202C>T p.A401V missense 0.00004133●●●●●●
55. 42788598 c.829G>T p.A277S missense 0.00003994●●●●●●
56. 0 c.*14+3G>T splice site 0.00003936●●●●●●
57. 42744454 c.1861A>G p.K621E missense 0.00003698●●●●●●
58. 42744708 c.1607C>A p.A536E missense 0.00003624●●●●●●
59. 42788673 c.754G>A p.D252N missense 0.00003546●●●●●●
60. 42744531 c.1784C>T p.A595V missense 0.00003520●●●●●●
61. 42744529 c.1786C>G p.P596A missense 0.00003458●●●●●●
62. 42744477 c.1838A>G p.E613G missense 0.00003248●●●●●●
63. 42788278 c.1149G>T p.K383N missense 0.00002960●●●●●●
64. 42788285 c.1142G>T p.R381L missense 0.00002866●●●●●●
65. 42788292 c.1135A>G p.I379V missense 0.00002729●●●●●●
66. 42744685 c.1630G>T p.A544S missense 0.00002626●●●●●●
67. 42744414 c.1901G>A p.R634K missense 0.00002589●●●●●●
68. 42788339 c.1088G>A p.R363H missense 0.00002528●●●●●●
69. 42788484 c.943G>A p.E315K missense 0.00002521●●●●●●
70. 42744330 c.1985C>T p.A662V missense 0.00002519●●●●●●
71. 42788384 c.1043A>G p.K348R missense 0.00002496●●●●●●
72. 42744675 c.1640C>T p.A547V missense 0.00002484●●●●●●
73. 42815189 c.157A>G p.T53A missense 0.00002472●●●●●●
74. 42788646 c.781G>A p.A261T missense 0.00002429●●●●●●
75. 42744600 c.1715G>A p.R572H missense 0.00002395●●●●●●
76. 42744610 c.1705T>G p.Y569D missense 0.00002350●●●●●●
77. 42744616 c.1699C>T p.H567Y missense 0.00002331●●●●●●
78. 42744626 c.1689C>G p.Y563X nonsense 0.00002297●●●●●●
79. 42744657 c.1658C>T p.A553V missense 0.00002284●●●●●●
80. 42744642 c.1673C>A p.P558Q missense 0.00002260●●●●●●
81. 42744561 c.1754C>T p.P585L missense 0.00002215●●●●●●
82. 42744480 c.1835C>T p.P612L missense 0.00002199●●●●●●
83. 42744474 c.1841C>T p.P614L missense 0.00002072●●●●●●
84. 42744466 c.1849G>A p.E617K missense 0.00001954●●●●●●
85. 42744543 c.1772G>T p.G591V missense 0.00001949●●●●●●
86. 42744446 c.1869G>T p.E623D missense 0.00001802●●●●●●
87. 42744532 c.1783G>A p.A595T missense 0.00001790●●●●●●
88. 42789006 c.421T>C p.Y141H missense 0.00001772●●●●●●
89. 42744421 c.1894G>A p.E632K missense 0.00001735●●●●●●
90. 42788618 c.809C>T p.A270V missense 0.00001723●●●●●●
91. 42744402 c.1913G>T p.R638L missense 0.00001707●●●●●●
92. 42788616 c.811G>T p.E271X nonsense 0.00001701●●●●●●
93. 42788459 c.968G>A p.R323H missense 0.00001696●●●●●●
94. 42788615 c.812A>T p.E271V missense 0.00001687●●●●●●
95. 42788340 c.1087C>T p.R363C missense 0.00001684●●●●●●
96. 42744370 c.1945G>T p.G649W missense 0.00001684●●●●●●
97. 42744324 c.1991C>T p.A664V missense 0.00001680●●●●●●
98. 42788394 c.1033G>A p.V345M missense 0.00001667●●●●●●
99. 42788370 c.1057C>T p.R353C missense 0.00001667●●●●●●
100. 42747253 c.1180G>A p.A394T missense 0.00001657●●●●●●
101. 42744525 c.1790C>G p.S597W missense 0.00001656●●●●●●
102. 42747247 c.1186G>T p.A396S missense 0.00001654●●●●●●
103. 42747162 c.1271C>T p.P424L missense 0.00001653●●●●●●
104. 42747193 c.1240A>G p.I414V missense 0.00001652●●●●●●
105. 42747186 c.1247G>T p.R416L missense 0.00001652●●●●●●
106. 42815069 c.277C>T p.R93C missense 0.00001648●●●●●●
107. 42744520 c.1795C>G p.P599A missense 0.00001553●●●●●●
108. 42744517 c.1798G>A p.A600T missense 0.00001509●●●●●●
109. 42743447 c.2080C>T p.L694F missense 0.00001458●●●●●●
110. 42743503 c.2024T>A p.I675N missense 0.00001398●●●●●●
111. 42789021 c.406G>C p.G136R missense 0.00001392●●●●●●
112. 42788604 c.823G>C p.E275Q missense 0.00001373●●●●●●
113. 42788600 c.827C>T p.A276V missense 0.00001325●●●●●●
114. 42788253 c.1169+5G>A splice site 0.00001295●●●●●●
115. 42789042 c.385T>G p.Y129D missense 0.00001266●●●●●●
116. 42743471 c.2056G>A p.G686S missense 0.00001257●●●●●●
117. 42743465 c.2062G>A p.A688T missense 0.00001253●●●●●●
118. 42743460 c.2067C>G p.I689M missense 0.00001250●●●●●●
119. 42744492 c.1823C>T p.T608M missense 0.00001207●●●●●●
120. 42744489 c.1826T>C p.L609P missense 0.00001171●●●●●●
121. 42788589 c.838G>C p.E280Q missense 0.00001122●●●●●●
122. 42788273 c.1154A>G p.E385G missense 0.00001036●●●●●●
123. 42744469 c.1846C>T p.R616C missense 0.00001004●●●●●●
124. 42788280 c.1147A>G p.K383E missense 0.00000975●●●●●●
125. 42744464 c.1851G>C p.E617D missense 0.00000961●●●●●●
126. 42744462 c.1853C>G p.T618S missense 0.00000955●●●●●●
127. 42788568 c.859A>G p.T287A missense 0.00000950●●●●●●
128. 42744460 c.1855C>G p.P619A missense 0.00000949●●●●●●
129. 42788289 c.1138G>C p.A380P missense 0.00000927●●●●●●
130. 42788558 c.869C>T p.T290I missense 0.00000919●●●●●●
131. 42788295 c.1132G>A p.A378T missense 0.00000902●●●●●●
132. 42788553 c.874A>C p.M292L missense 0.00000900●●●●●●
133. 42788298 c.1129G>A p.A377T missense 0.00000894●●●●●●
134. 42788547 c.880G>A p.E294K missense 0.00000878●●●●●●
135. 42744403 c.1912C>G p.R638G missense 0.00000854●●●●●●
136. 42744402 c.1913G>C p.R638P missense 0.00000854●●●●●●
137. 42815341 c.5G>C p.S2T missense 0.00000854●●●●●●
138. 42788319 c.1108G>A p.V370M missense 0.00000854●●●●●●
139. 42815333 c.13C>T p.R5C missense 0.00000853●●●●●●
140. 42788402 c.1025G>A p.R342H missense 0.00000853●●●●●●
141. 42788523 c.904G>C p.G302R missense 0.00000853●●●●●●
142. 42788322 c.1105A>C p.S369R missense 0.00000852●●●●●●
143. 42788430 c.997G>A p.D333N missense 0.00000852●●●●●●
144. 42788432 c.995C>T p.P332L missense 0.00000851●●●●●●
145. 42815312 c.34G>A p.G12R missense 0.00000849●●●●●●
146. 42788423 c.1004A>C p.H335P missense 0.00000849●●●●●●
147. 42788450 c.977A>G p.Y326C missense 0.00000847●●●●●●
148. 42788460 c.967C>T p.R323C missense 0.00000847●●●●●●
149. 42788510 c.917G>A p.S306N missense 0.00000846●●●●●●
150. 42744385 c.1930G>A p.G644R missense 0.00000845●●●●●●
151. 42788504 c.923G>T p.R308L missense 0.00000845●●●●●●
152. 42788505 c.922C>T p.R308C missense 0.00000845●●●●●●
153. 42788336 c.1091A>G p.Q364R missense 0.00000844●●●●●●
154. 42744376 c.1939A>C p.K647Q missense 0.00000843●●●●●●
155. 42744366 c.1949C>A p.A650D missense 0.00000842●●●●●●
156. 42744367 c.1948G>A p.A650T missense 0.00000842●●●●●●
157. 42744364 c.1951A>G p.K651E missense 0.00000842●●●●●●
158. 42788496 c.931G>A p.G311S missense 0.00000841●●●●●●
159. 42788345 c.1082A>G p.K361R missense 0.00000839●●●●●●
160. 42815278 c.68C>T p.A23V missense 0.00000839●●●●●●
161. 42744314 c.2001G>T p.E667D missense 0.00000838●●●●●●
162. 42788396 c.1031A>G p.N344S missense 0.00000836●●●●●●
163. 42815269 c.77A>G p.H26R missense 0.00000836●●●●●●
164. 42788369 c.1058G>A p.R353H missense 0.00000834●●●●●●
165. 42815248 c.98A>G p.K33R missense 0.00000833●●●●●●
166. 42815251 c.95C>A p.P32H missense 0.00000833●●●●●●
167. 42788394 c.1033G>C p.V345L missense 0.00000833●●●●●●
168. 42788378 c.1049C>T p.T350I missense 0.00000832●●●●●●
169. 42815239 c.107delG p.G36Afs*39 frameshift 0.00000831●●●●●●
170. 42815240 c.106G>A p.G36S missense 0.00000831●●●●●●
171. 42815239 c.107G>A p.G36D missense 0.00000831●●●●●●
172. 42747268 c.1170-5C>T splice site 0.00000830●●●●●●
173. 42747258 c.1175G>A p.S392N missense 0.00000829●●●●●●
174. 42747145 c.1288G>A p.G430S missense 0.00000827●●●●●●
175. 42747234 c.1199C>T p.A400V missense 0.00000827●●●●●●
176. 42815209 c.137T>C p.F46S missense 0.00000827●●●●●●
177. 42747145 c.1288G>T p.G430C missense 0.00000827●●●●●●
178. 42747216 c.1217T>C p.L406P missense 0.00000826●●●●●●
179. 42747186 c.1247G>A p.R416H missense 0.00000826●●●●●●
180. 42815195 c.151G>A p.V51I missense 0.00000826●●●●●●
181. 42814976 c.370G>A p.A124T missense 0.00000825●●●●●●
182. 42815027 c.319G>A p.E107K missense 0.00000824●●●●●●
183. 42815082 c.264T>G p.H88Q missense 0.00000824●●●●●●
184. 42815098 c.248A>G p.K83R missense 0.00000824●●●●●●
185. 42815155 c.191G>A p.W64X nonsense 0.00000824●●●●●●
186. 42815120 c.226A>G p.T76A missense 0.00000824●●●●●●
187. 42815057 c.289C>T p.R97W missense 0.00000824●●●●●●
188. 42814993 c.353A>G p.Y118C missense 0.00000824●●●●●●
189. 42815101 c.245A>G p.Y82C missense 0.00000824●●●●●●
190. 42815158 c.188A>G p.Y63C missense 0.00000824●●●●●●
191. 42815065 c.281A>G p.Y94C missense 0.00000824●●●●●●
192. 42815003 c.343C>G p.Q115E missense 0.00000824●●●●●●
193. 42815110 c.236G>C p.R79P missense 0.00000824●●●●●●
194. 42815148 c.198G>C p.Q66H missense 0.00000824●●●●●●
195. 42815144 c.202A>C p.K68Q missense 0.00000824●●●●●●
196. 42815184 c.162G>A p.W54X nonsense 0.00000824●●●●●●
197. 42815149 c.197A>G p.Q66R missense 0.00000824●●●●●●
198. 42815111 c.235C>A p.R79S 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.