JPH2 missense variants in ExAC

JPH2 gene summary
JPH2 variants in

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

* 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.