RYR2 splice variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 splice 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. 237205869 c.48T>C splice site 0.00011979●●●●●●
2. 237433789 c.49-8C>T splice site 0.00003312●●●●●●
3. 237433799 c.51T>C p.D17D splice site 0.00006117●●●●●●
4. 237494282 c.273G>C splice site 0.00003315●●●●●●
5. 237494290 c.273+8C>T splice site 0.00001659●●●●●●
6. 237519260 c.274-5C>G splice site 0.00001505●●●●●●
7. 237519262 c.274-3C>T splice site 0.00010322●●●●●●
8. 237519267 c.276A>G splice site 0.00001415●●●●●●
9. 237527650 c.295-8C>T splice site 0.00002114●●●●●●
10. 237527672 c.309G>A splice site 0.00002182●●●●●●
11. 237527679 c.309+7C>T splice site 0.00076401●●●●●●
12. 237527680 c.309+8_309+12delATCTT splice site 0.00006741●●●●●●
13. 237538008 c.385-9A>C splice site 0.00029118●●●●●●
14. 237538100 c.463+5_463+6insC splice site 0.00019229●●●●●●
15. 237538102 c.463+7A>G splice site 0.00026135●●●●●●
16. 237538104 c.463+9C>T splice site 0.00003450●●●●●●
17. 237540615 c.464-8A>C splice site 0.30214740●●●●●●
18. 237540742 c.576+7G>C splice site 0.00199804●●●●●●
19. 237550574 c.577-7G>A splice site 0.00000828●●●●●●
20. 237550686 c.676+6A>G splice site 0.00000829●●●●●●
21. 237551376 c.677-11T>A splice site 0.57513908●●●●●●
22. 237551380 c.677-7C>G splice site 0.00000847●●●●●●
23. 237580431 c.848+8G>C splice site 0.00007639●●●●●●
24. 237586384 c.849-8T>C splice site 0.14033323●●●●●●
25. 237586555 c.1005+7C>T splice site 0.00000883●●●●●●
26. 237586555 c.1005+7C>G splice site 0.00000883●●●●●●
27. 237604789 c.1170+6G>T splice site 0.00000862●●●●●●
28. 237608820 c.1290A>T splice site 0.00000830●●●●●●
29. 237617681 c.1293-10T>C splice site 0.00000863●●●●●●
30. 237617878 c.1476+4C>T splice site 0.00017227●●●●●●
31. 237617879 c.1476+5G>A splice site 0.00001927●●●●●●
32. 237619893 c.1477-7G>T splice site 0.00001680●●●●●●
33. 237619893 c.1477-7G>A splice site 0.00005039●●●●●●
34. 237620034 c.1611G>A p.L537L splice site 0.01702357●●●●●●
35. 237620042 c.1612+7A>C splice site 0.00001661●●●●●●
36. 237632393 c.1614G>A splice site 0.00000833●●●●●●
37. 237632486 c.1707A>G splice site 0.00002509●●●●●●
38. 237656392 c.1961+5A>G splice site 0.00000871●●●●●●
39. 237656394 c.1961+7T>G splice site 0.00000871●●●●●●
40. 237659806 c.1962-5_1962-4insA splice site 0.00000830●●●●●●
41. 237660054 c.2203+2_2203+3insAC splice site 0.00001686●●●●●●
42. 237660056 c.2203+4C>T splice site 0.00001689●●●●●●
43. 237660057 c.2203+5G>A splice site 0.00002537●●●●●●
44. 237664004 c.2204-7C>G splice site 0.01028426●●●●●●
45. 237666583 c.2397-6C>T splice site 0.00934472●●●●●●
46. 237666809 c.2613+4C>G splice site 0.00004986●●●●●●
47. 237666809 c.2613+4_2613+5insCTTG splice site 0.00014959●●●●●●
48. 237666809 c.2613+4C>T splice site 0.00001662●●●●●●
49. 237666813 c.2613+8G>A splice site 0.00000832●●●●●●
50. 237670012 c.2616C>T p.I872I splice site 0.00000977●●●●●●
51. 237693723 c.2823-4C>T splice site 0.00003315●●●●●●
52. 237729860 c.3215-7T>C splice site 0.00000885●●●●●●
53. 237730078 c.3423+3G>A splice site 0.00000828●●●●●●
54. 237730083 c.3423+8G>A splice site 0.00000828●●●●●●
55. 237732447 c.3426C>T splice site 0.00000840●●●●●●
56. 237732626 c.3598+7_3598+9delCTA splice site 0.00000985●●●●●●
57. 237732629 c.3598+10C>G splice site 0.00006040●●●●●●
58. 237753090 c.3599-3C>A splice site 0.00001688●●●●●●
59. 237753931 c.3808-9G>T splice site 0.00000910●●●●●●
60. 237753935 c.3808-5G>A splice site 0.00000909●●●●●●
61. 237754296 c.4160+4A>G splice site 0.00000955●●●●●●
62. 237754299 c.4160+7A>G splice site 0.00005764●●●●●●
63. 237754300 c.4160+8A>G splice site 0.00000965●●●●●●
64. 237756766 c.4276-10A>G splice site 0.00000839●●●●●●
65. 237756772 c.4276-4A>G splice site 0.00000836●●●●●●
66. 237758961 c.4596+4C>T splice site 0.00001697●●●●●●
67. 237758963 c.4596+6C>T splice site 0.00002550●●●●●●
68. 237765418 c.4683+7A>T splice site 0.00000975●●●●●●
69. 237774051 c.4684-11C>T splice site 0.04652223●●●●●●
70. 237774055 c.4684-7C>T splice site 0.00002432●●●●●●
71. 237774056 c.4684-6C>G splice site 0.00002352●●●●●●
72. 237774057 c.4684-5G>C splice site 0.00944417●●●●●●
73. 237774058 c.4684-4C>T splice site 0.00002169●●●●●●
74. 237777335 c.4911-4A>G splice site 0.00000870●●●●●●
75. 237778151 c.5715+8G>A splice site 0.00001917●●●●●●
76. 237780579 c.5716-7C>A splice site 0.00001611●●●●●●
77. 237787060 c.5917-5T>C splice site 0.00000844●●●●●●
78. 237787175 c.6022+5G>A splice site 0.00006805●●●●●●
79. 237788954 c.6023-7A>G splice site 0.00004164●●●●●●
80. 237788958 c.6023-3T>C splice site 0.00000831●●●●●●
81. 237789112 c.6166+8G>A splice site 0.00003581●●●●●●
82. 237791378 c.6438A>G splice site 0.00000842●●●●●●
83. 237791386 c.6440+6T>C splice site 0.00000845●●●●●●
84. 237794719 c.6441-8C>T splice site 0.00001088●●●●●●
85. 237794719 c.6441-8C>G splice site 0.00002175●●●●●●
86. 237794724 c.6441-3T>C splice site 0.00001034●●●●●●
87. 237794846 c.6555+5C>A splice site 0.00000963●●●●●●
88. 237794847 c.6555+6G>A splice site 0.00079382●●●●●●
89. 237794849 c.6555+8C>T splice site 0.00082406●●●●●●
90. 237796873 c.6556-5T>C splice site 0.00000828●●●●●●
91. 237801653 c.6793-4G>A splice site 0.00005798●●●●●●
92. 237801653 c.6793-4G>T splice site 0.00000828●●●●●●
93. 237801654 c.6793-3C>T splice site 0.00006626●●●●●●
94. 237801796 c.6928+4G>A splice site 0.00435582●●●●●●
95. 237802316 c.6930G>C splice site 0.00001708●●●●●●
96. 237802499 c.7113A>G splice site 0.00000869●●●●●●
97. 237804191 c.7116-6delT splice site 0.00001133●●●●●●
98. 237806623 c.7222-4A>G splice site 0.00000828●●●●●●
99. 237806746 c.7341A>G splice site 0.00000828●●●●●●
100. 237806751 c.7342+4A>T splice site 0.00000828●●●●●●
101. 237813173 c.7513-4T>C splice site 0.00000836●●●●●●
102. 237817567 c.7825-7C>A splice site 0.00000829●●●●●●
103. 237817574 c.7825C>T splice site 0.00004144●●●●●●
104. 237817720 c.7965+6T>C splice site 0.00000863●●●●●●
105. 237819291 c.8129+7A>T splice site 0.00001861●●●●●●
106. 237823279 c.8209-6T>C splice site 0.00002219●●●●●●
107. 237823282 c.8209-3A>G splice site 0.00018393●●●●●●
108. 237823379 c.8298+5G>A splice site 0.00005331●●●●●●
109. 237823382 c.8298+8delT splice site 0.00001079●●●●●●
110. 237829804 c.8437-8_8437-7insG splice site 0.00933859●●●●●●
111. 237829807 c.8437-5T>G splice site 0.00001142●●●●●●
112. 237831176 c.8515-7A>G splice site 0.00026451●●●●●●
113. 237831262 c.8590+4A>G splice site 0.00003707●●●●●●
114. 237831269 c.8590+11C>T splice site 0.00003903●●●●●●
115. 237837390 c.8591-6T>C splice site 0.00000835●●●●●●
116. 237837397 c.8592A>G splice site 0.00004163●●●●●●
117. 237837528 c.8714+9A>T splice site 0.00000888●●●●●●
118. 237838149 c.8830+3A>C splice site 0.00000952●●●●●●
119. 237838149 c.8830+3A>G splice site 0.00000952●●●●●●
120. 237838150 c.8830+4G>A splice site 0.00004764●●●●●●
121. 237841339 c.8831-9A>C splice site 0.00032904●●●●●●
122. 237841345 c.8831-3C>T splice site 0.00001143●●●●●●
123. 237841349 c.8832T>C splice site 0.00001119●●●●●●
124. 237841417 c.8895+5A>G splice site 0.00005485●●●●●●
125. 237843758 c.8898C>T splice site 0.00000918●●●●●●
126. 237850814 c.9067+10C>T splice site 0.00012045●●●●●●
127. 237863770 c.9367+3A>G splice site 0.00001572●●●●●●
128. 237863774 c.9367+7delA splice site 0.00001690●●●●●●
129. 237865274 c.9368-4T>A splice site 0.00000925●●●●●●
130. 237865367 c.9449+8T>A splice site 0.00694431●●●●●●
131. 237868510 c.9450-3T>C splice site 0.00017088●●●●●●
132. 237870246 c.9581-3C>T splice site 0.00000860●●●●●●
133. 237872152 c.9902-6A>G splice site 0.00001107●●●●●●
134. 237872159 c.9903G>T splice site 0.00001090●●●●●●
135. 237872397 c.10141A>C splice site 0.00002588●●●●●●
136. 237872404 c.10142+6A>T splice site 0.00001742●●●●●●
137. 237872867 c.10230T>C p.H3410H splice site 0.00001204●●●●●●
138. 237875040 c.10231-5C>T splice site 0.00095120●●●●●●
139. 237875041 c.10231-4T>C splice site 0.00114491●●●●●●
140. 237875144 c.10323+7C>A splice site 0.00001307●●●●●●
141. 237880494 c.10324-4A>G splice site 0.00183136●●●●●●
142. 237880495 c.10324-3T>C splice site 0.00000941●●●●●●
143. 237880666 c.10492C>T splice site 0.00000909●●●●●●
144. 237880674 c.10494+6_10494+7delTC splice site 0.00000922●●●●●●
145. 237881758 c.10495-4A>G splice site 0.00000859●●●●●●
146. 237881827 c.10554+6C>A splice site 0.00000845●●●●●●
147. 237886418 c.10555-10T>C splice site 0.00000841●●●●●●
148. 237889566 c.10690-7C>T splice site 0.00002607●●●●●●
149. 237889612 c.10725+4A>T splice site 0.00003948●●●●●●
150. 237890503 c.10838+4G>A splice site 0.00000863●●●●●●
151. 237893656 c.10935A>C splice site 0.00000842●●●●●●
152. 237893662 c.10935+6T>A splice site 0.00000843●●●●●●
153. 237893664 c.10935+8T>G splice site 0.00000845●●●●●●
154. 237895453 c.11039+4delT splice site 0.00000833●●●●●●
155. 237895455 c.11039+6G>A splice site 0.00000833●●●●●●
156. 237895456 c.11039+7T>C splice site 0.00003334●●●●●●
157. 237905586 c.11092-10A>T splice site 0.00013909●●●●●●
158. 237919694 c.11245+7T>G splice site 0.00001699●●●●●●
159. 237920994 c.11246-3T>C splice site 0.00000830●●●●●●
160. 237921081 c.11325+5C>T splice site 0.00000830●●●●●●
161. 237921083 c.11325+7G>A splice site 0.00000830●●●●●●
162. 237921083 c.11325+7G>C splice site 0.00000830●●●●●●
163. 237923072 c.11326-4A>G splice site 0.00007458●●●●●●
164. 237923158 c.11402+6G>A splice site 0.00000829●●●●●●
165. 237923159 c.11402+7A>T splice site 0.00000829●●●●●●
166. 237936813 c.11647-7T>C splice site 0.00005959●●●●●●
167. 237936954 c.11775+6C>A splice site 0.00000871●●●●●●
168. 237941960 c.11776-6C>T splice site 0.00000836●●●●●●
169. 237942073 c.11880+3A>T splice site 0.00000832●●●●●●
170. 237942074 c.11880+4_11880+7delAACT splice site 0.00004159●●●●●●
171. 237944861 c.11881-4T>C splice site 0.00002840●●●●●●
172. 237946964 c.11963-11T>C splice site 0.48585501●●●●●●
173. 237946971 c.11963-4C>T splice site 0.00003720●●●●●●
174. 237949265 c.13261-4C>A splice site 0.00002063●●●●●●
175. 237949334 c.13326C>T splice site 0.00004763●●●●●●
176. 237949339 c.13328+3A>G splice site 0.00002434●●●●●●
177. 237949344 c.13328+8T>C splice site 0.00002512●●●●●●
178. 237951284 c.13329-4A>G splice site 0.00002552●●●●●●
179. 237951284 c.13329-4A>T splice site 0.00002552●●●●●●
180. 237951285 c.13329-3T>C splice site 0.00010116●●●●●●
181. 237951435 c.13476A>T splice site 0.00000945●●●●●●
182. 237954822 c.13563+7A>G splice site 0.00003440●●●●●●
183. 237955398 c.13564-7G>C splice site 0.00002982●●●●●●
184. 237955399 c.13564-6A>C splice site 0.00002926●●●●●●
185. 237955407 c.13566C>T p.V4522V splice site 0.00222840●●●●●●
186. 237955631 c.13782+8_13782+11delAGTA splice site 0.00001774●●●●●●
187. 237957160 c.13783-7T>C splice site 0.00002786●●●●●●
188. 237957161 c.13783-6A>G splice site 0.73988781●●●●●●
189. 237961330 c.13957-7delC splice site 0.00001141●●●●●●
190. 237961332 c.13957-5C>G splice site 0.00003391●●●●●●
191. 237965148 c.14091-8C>T splice site 0.00002560●●●●●●
192. 237965149 c.14091-7A>T splice site 0.00002526●●●●●●
193. 237965153 c.14091-3C>A splice site 0.00000839●●●●●●
194. 237969434 c.14152-3T>C splice site 0.00000833●●●●●●
195. 237969589 c.14298+6C>T splice site 0.00000830●●●●●●
196. 237972203 c.14301C>T p.L4767L splice site 0.00002484●●●●●●
197. 237972340 c.14433+5G>C splice site 0.00000828●●●●●●
198. 237982495 c.14590+3A>G splice site 0.00000829●●●●●●
199. 237982499 c.14590+7A>G splice site 0.00000830●●●●●●
200. 237982500 c.14590+8_14590+10delTCC splice site 0.00001659●●●●●●
201. 237993832 c.14658C>G splice site 0.00000828●●●●●●
202. 237994807 c.14757-7T>A splice site 0.00023723●●●●●●
203. 237994808 c.14757-6C>T splice site 0.00024573●●●●●●
204. 237994868 c.14808+3A>G splice site 0.00013912●●●●●●

* 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.