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

* 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.