RYR1 splice variants in ExAC

RYR1 gene summary
RYR1 variants in

The table below lists the RYR1 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. 38993372 c.7835+5A>G splice site 0.33658016●●●●●●
2. 38997459 c.8693-10G>C splice site 0.32427053●●●●●●
3. 38965952 c.4161-6T>C splice site 0.24271450●●●●●●
4. 38991640 c.7614+10C>G splice site 0.22205300●●●●●●
5. 39018277 c.10687-10C>T splice site 0.08165575●●●●●●
6. 39018280 c.10687-7C>T splice site 0.07288230●●●●●●
7. 38956726 c.2871-5C>T splice site 0.04484845●●●●●●
8. 39037177 c.12094+11A>G splice site 0.01077220●●●●●●
9. 39010101 c.10259+7G>A splice site 0.00993271●●●●●●
10. 38946085 c.1577-6C>G splice site 0.00825303●●●●●●
11. 38993374 c.7835+7C>T splice site 0.00365980●●●●●●
12. 39019704 c.11141+7A>G splice site 0.00334816●●●●●●
13. 39006718 c.9555-9G>A splice site 0.00239034●●●●●●
14. 38993140 c.7615-7G>A splice site 0.00202386●●●●●●
15. 39051746 c.12283-7C>T splice site 0.00196059●●●●●●
16. 38997024 c.8616+7G>A splice site 0.00161588●●●●●●
17. 38981375 c.6127+3A>G splice site 0.00114781●●●●●●
18. 38937211 c.725+6G>A splice site 0.00113704●●●●●●
19. 38948268 c.1923C>G p.T641T splice site 0.00093898●●●●●●
20. 38934191 c.271-7C>G splice site 0.00092524●●●●●●
21. 39066551 c.14130-8C>G splice site 0.00091477●●●●●●
22. 39025772 c.11360-9T>A splice site 0.00090156●●●●●●
23. 38954174 c.2682+7G>A splice site 0.00087703●●●●●●
24. 38942393 c.1123-11C>T splice site 0.00074755●●●●●●
25. 38959939 c.3557-6C>T splice site 0.00056114●●●●●●
26. 39014545 c.10441-10G>A splice site 0.00050467●●●●●●
27. 38968346 c.4294-4C>T splice site 0.00035515●●●●●●
28. 38993513 c.7836-7C>T splice site 0.00031517●●●●●●
29. 39061237 c.13660-10T>C splice site 0.00031315●●●●●●
30. 39066550 c.14130-9T>G splice site 0.00023899●●●●●●
31. 38989882 c.7026C>T p.N2342N splice site 0.00021460●●●●●●
32. 38958452 c.3381C>T p.R1127R splice site 0.00021305●●●●●●
33. 39071144 c.14646G>A splice site 0.00020615●●●●●●
34. 39018935 c.10825-11C>A splice site 0.00016828●●●●●●
35. 38995945 c.8311-4C>T splice site 0.00016601●●●●●●
36. 39023384 c.11259+8G>A splice site 0.00015792●●●●●●
37. 38987189 c.6796+8C>T splice site 0.00014381●●●●●●
38. 38987491 c.6797-9C>T splice site 0.00014292●●●●●●
39. 38986846 c.6549-9C>T splice site 0.00014134●●●●●●
40. 39034526 c.12012+11C>T splice site 0.00013415●●●●●●
41. 39006720 c.9555-7C>G splice site 0.00012039●●●●●●
42. 39026637 c.11517C>T p.S3839S splice site 0.00009023●●●●●●
43. 38931381 c.46-4G>T splice site 0.00008591●●●●●●
44. 38934195 c.271-3C>T splice site 0.00007916●●●●●●
45. 38959779 c.3555C>T p.D1185D splice site 0.00007419●●●●●●
46. 38993514 c.7836-6C>T splice site 0.00006798●●●●●●
47. 38932982 c.166-7_166-6insC splice site 0.00006613●●●●●●
48. 39001292 c.9001-8G>A splice site 0.00006589●●●●●●
49. 39010104 c.10259+10G>A splice site 0.00006221●●●●●●
50. 38948941 c.2167+9C>T splice site 0.00006012●●●●●●
51. 38964011 c.3766-6C>A splice site 0.00005946●●●●●●
52. 39005755 c.9554+8G>A splice site 0.00005908●●●●●●
53. 39018432 c.10824+8G>A splice site 0.00005842●●●●●●
54. 39013952 c.10440+3C>T splice site 0.00005781●●●●●●
55. 38997596 c.8816+4C>T splice site 0.00004974●●●●●●
56. 39070771 c.14511+3G>A splice site 0.00004963●●●●●●
57. 38932985 c.166-4C>T splice site 0.00004956●●●●●●
58. 38989887 c.7027+4A>T splice site 0.00004952●●●●●●
59. 39033988 c.11691T>C p.D3897D splice site 0.00004942●●●●●●
60. 38931381 c.46-4G>A splice site 0.00004773●●●●●●
61. 38993375 c.7835+8G>A splice site 0.00004732●●●●●●
62. 38956725 c.2871-6C>T splice site 0.00004604●●●●●●
63. 38990276 c.7029C>T p.G2343G splice site 0.00004362●●●●●●
64. 39057625 c.13512C>T p.A4504A splice site 0.00004263●●●●●●
65. 38937415 c.800+7C>T splice site 0.00004247●●●●●●
66. 38993520 c.7836G>A splice site 0.00004204●●●●●●
67. 38980710 c.5815-6C>G splice site 0.00004186●●●●●●
68. 38989737 c.6892-11T>C splice site 0.00004170●●●●●●
69. 39009851 c.10019-3_10019-2insA splice site 0.00004160●●●●●●
70. 39013953 c.10440+4G>A splice site 0.00004130●●●●●●
71. 39002776 c.9233+4delG splice site 0.00004124●●●●●●
72. 39055596 c.12625-3C>G splice site 0.00003645●●●●●●
73. 38965950 c.4161-8A>G splice site 0.00003629●●●●●●
74. 38987597 c.6891+3G>T splice site 0.00003400●●●●●●
75. 39008339 c.10018+8G>A splice site 0.00003350●●●●●●
76. 38934782 c.425-7C>T splice site 0.00003299●●●●●●
77. 39001428 c.9122+7C>T splice site 0.00003297●●●●●●
78. 39001429 c.9122+8G>A splice site 0.00003297●●●●●●
79. 38973657 c.4621-10C>G splice site 0.00003296●●●●●●
80. 38980919 c.6015+3C>G splice site 0.00002860●●●●●●
81. 38939457 c.1122+4G>T splice site 0.00002688●●●●●●
82. 38968516 c.4454+6G>A splice site 0.00002636●●●●●●
83. 39013755 c.10347C>T p.H3449H splice site 0.00002522●●●●●●
84. 39003123 c.9472C>T splice site 0.00002520●●●●●●
85. 39051744 c.12283-9C>T splice site 0.00002519●●●●●●
86. 39013763 c.10347+8C>T splice site 0.00002510●●●●●●
87. 38985263 c.6546C>T splice site 0.00002495●●●●●●
88. 39062913 c.13998+3G>A splice site 0.00002487●●●●●●
89. 38991462 c.7446T>C p.D2482D splice site 0.00002484●●●●●●
90. 39019235 c.10938-4G>A splice site 0.00002480●●●●●●
91. 39013956 c.10440+7G>A splice site 0.00002478●●●●●●
92. 39017628 c.10627-5C>T splice site 0.00002477●●●●●●
93. 38983127 c.6128-3C>T splice site 0.00002475●●●●●●
94. 39013851 c.10348-6C>G splice site 0.00002475●●●●●●
95. 38945877 c.1443G>A splice site 0.00002471●●●●●●
96. 39077160 c.14970-5C>G splice site 0.00002471●●●●●●
97. 38993141 c.7615-6C>T splice site 0.00002360●●●●●●
98. 39010100 c.10259+6C>T splice site 0.00002022●●●●●●
99. 38995941 c.8311-8A>G splice site 0.00001986●●●●●●
100. 38931509 c.165+5G>A splice site 0.00001923●●●●●●
101. 38935217 c.538-7C>T splice site 0.00001919●●●●●●
102. 39025355 c.11260-5C>T splice site 0.00001871●●●●●●
103. 38943662 c.1440+8C>G splice site 0.00001846●●●●●●
104. 38943662 c.1440+8C>T splice site 0.00001846●●●●●●
105. 39068844 c.14364C>T p.N4788N splice site 0.00001830●●●●●●
106. 38990267 c.7028-8G>A splice site 0.00001755●●●●●●
107. 39063954 c.14129+7A>T splice site 0.00001731●●●●●●
108. 39007991 c.9686-8T>C splice site 0.00001704●●●●●●
109. 38987600 c.6891+6G>A splice site 0.00001702●●●●●●
110. 38938992 c.801-3C>T splice site 0.00001698●●●●●●
111. 39051745 c.12283-8G>A splice site 0.00001682●●●●●●
112. 38966090 c.4293G>A splice site 0.00001671●●●●●●
113. 38985272 c.6548+7C>T splice site 0.00001666●●●●●●
114. 39025778 c.11360-3C>T splice site 0.00001665●●●●●●
115. 38981256 c.6016-5C>G splice site 0.00001663●●●●●●
116. 38986847 c.6549-8G>A splice site 0.00001662●●●●●●
117. 38997598 c.8816+6C>T splice site 0.00001659●●●●●●
118. 39015974 c.10458C>T splice site 0.00001658●●●●●●
119. 38934439 c.424+3G>A splice site 0.00001657●●●●●●
120. 38934440 c.424+4C>A splice site 0.00001657●●●●●●
121. 39014549 c.10441-6A>G splice site 0.00001654●●●●●●
122. 38946399 c.1791+8C>G splice site 0.00001653●●●●●●
123. 39013957 c.10440+8C>T splice site 0.00001652●●●●●●
124. 39019064 c.10937+6G>A splice site 0.00001651●●●●●●
125. 38996936 c.8542-7C>T splice site 0.00001651●●●●●●
126. 38937334 c.726A>G splice site 0.00001651●●●●●●
127. 38996945 c.8544C>G splice site 0.00001650●●●●●●
128. 38979814 c.5548-3T>C splice site 0.00001649●●●●●●
129. 38942533 c.1244+8A>T splice site 0.00001649●●●●●●
130. 38997020 c.8616+3G>A splice site 0.00001649●●●●●●
131. 38942531 c.1244+6delC splice site 0.00001649●●●●●●
132. 38951011 c.2361-4C>G splice site 0.00001648●●●●●●
133. 39063819 c.14001G>T splice site 0.00001648●●●●●●
134. 39076648 c.14868+6T>A splice site 0.00001648●●●●●●
135. 39070618 c.14365-4A>C splice site 0.00001648●●●●●●
136. 39002195 c.9123-6C>G splice site 0.00001647●●●●●●
137. 38946086 c.1577-5C>G splice site 0.00001647●●●●●●
138. 39034080 c.11778+5G>A splice site 0.00001647●●●●●●
139. 38948277 c.1925+7C>T splice site 0.00001647●●●●●●
140. 38956727 c.2871-4G>T splice site 0.00001440●●●●●●
141. 38993139 c.7615-8C>T splice site 0.00001224●●●●●●
142. 38996044 c.8400+6C>T splice site 0.00001191●●●●●●
143. 38996043 c.8400+5C>G splice site 0.00001177●●●●●●
144. 39019586 c.11035-5A>T splice site 0.00001162●●●●●●
145. 38993142 c.7615-5C>T splice site 0.00001161●●●●●●
146. 38993143 c.7615-4C>T splice site 0.00001149●●●●●●
147. 38993149 c.7617C>T splice site 0.00001095●●●●●●
148. 38931511 c.165+7G>T splice site 0.00000962●●●●●●
149. 38931511 c.165+7G>A splice site 0.00000962●●●●●●
150. 38931387 c.48C>T splice site 0.00000959●●●●●●
151. 38931380 c.46-5C>T splice site 0.00000948●●●●●●
152. 38931379 c.46-6_46-5insCTG splice site 0.00000946●●●●●●
153. 39034522 c.12012+7G>A splice site 0.00000942●●●●●●
154. 38993374 c.7835+7C>G splice site 0.00000941●●●●●●
155. 38935325 c.631+8C>T splice site 0.00000929●●●●●●
156. 39068849 c.14364+5G>A splice site 0.00000924●●●●●●
157. 39026634 c.11517-3C>T splice site 0.00000914●●●●●●
158. 39016149 c.10626+7G>A splice site 0.00000910●●●●●●
159. 38939460 c.1122+7G>A splice site 0.00000909●●●●●●
160. 38943657 c.1440+3G>A splice site 0.00000909●●●●●●
161. 38993372 c.7835+5_7835+6insGGCTTCAGGGTGGG splice site 0.00000896●●●●●●
162. 39052103 c.12624+9A>G splice site 0.00000896●●●●●●
163. 38935320 c.631+3G>A splice site 0.00000889●●●●●●
164. 38958457 c.3381+5G>A splice site 0.00000871●●●●●●
165. 39063957 c.14129+10C>T splice site 0.00000869●●●●●●
166. 38954170 c.2682+3G>A splice site 0.00000867●●●●●●
167. 38984993 c.6276G>A splice site 0.00000858●●●●●●
168. 38993512 c.7836-8T>C splice site 0.00000854●●●●●●
169. 39005659 c.9473-7C>G splice site 0.00000853●●●●●●
170. 38951235 c.2577+4C>T splice site 0.00000850●●●●●●
171. 38938991 c.801-4A>T splice site 0.00000849●●●●●●
172. 38937412 c.800+4G>A splice site 0.00000847●●●●●●
173. 38993516 c.7836-4G>A splice site 0.00000846●●●●●●
174. 38987185 c.6796+4A>G splice site 0.00000845●●●●●●
175. 39005753 c.9554+6G>A splice site 0.00000843●●●●●●
176. 38996589 c.8541+3G>A splice site 0.00000842●●●●●●
177. 39003131 c.9472+8C>T splice site 0.00000841●●●●●●
178. 39071002 c.14512-8G>A splice site 0.00000841●●●●●●
179. 38987501 c.6798C>T splice site 0.00000840●●●●●●
180. 39003128 c.9472+5G>C splice site 0.00000840●●●●●●
181. 38987497 c.6797-3C>A splice site 0.00000840●●●●●●
182. 38997194 c.8692+8C>T splice site 0.00000835●●●●●●
183. 38966096 c.4293+6G>A splice site 0.00000835●●●●●●
184. 38997194 c.8692+8C>A splice site 0.00000835●●●●●●
185. 38991241 c.7324-5C>T splice site 0.00000834●●●●●●
186. 38993616 c.7926+6G>A splice site 0.00000833●●●●●●
187. 38985271 c.6548+6A>G splice site 0.00000833●●●●●●
188. 38990664 c.7323+8C>A splice site 0.00000832●●●●●●
189. 38989742 c.6892-6C>G splice site 0.00000832●●●●●●
190. 38933098 c.270+5G>A splice site 0.00000832●●●●●●
191. 39075579 c.14647-4T>G splice site 0.00000831●●●●●●
192. 38997461 c.8693-8C>G splice site 0.00000831●●●●●●
193. 39075578 c.14647-5C>T splice site 0.00000831●●●●●●
194. 38990663 c.7323+7C>A splice site 0.00000831●●●●●●
195. 39034408 c.11908-3C>G splice site 0.00000831●●●●●●
196. 39075585 c.14649T>C splice site 0.00000830●●●●●●
197. 38942397 c.1123-7C>T splice site 0.00000830●●●●●●
198. 38942401 c.1123-3T>C splice site 0.00000830●●●●●●
199. 38959602 c.3382-4A>C splice site 0.00000830●●●●●●
200. 39015965 c.10456-7C>A splice site 0.00000830●●●●●●
201. 39019342 c.11034+7T>C splice site 0.00000830●●●●●●
202. 39062916 c.13998+6C>T splice site 0.00000830●●●●●●
203. 38996438 c.8401-8C>T splice site 0.00000830●●●●●●
204. 39015969 c.10456-3C>T splice site 0.00000829●●●●●●
205. 38987045 c.6664-4C>T splice site 0.00000829●●●●●●
206. 38996442 c.8401-4C>T splice site 0.00000829●●●●●●
207. 38997599 c.8816+7G>A splice site 0.00000829●●●●●●
208. 39017695 c.10686+3A>G splice site 0.00000828●●●●●●
209. 39017697 c.10686+5G>A splice site 0.00000828●●●●●●
210. 38991371 c.7444+5A>G splice site 0.00000828●●●●●●
211. 39014557 c.10443G>A p.A3481A splice site 0.00000828●●●●●●
212. 38969068 c.4455-7C>T splice site 0.00000828●●●●●●
213. 38991455 c.7445-6C>T splice site 0.00000828●●●●●●
214. 38939151 c.957G>A splice site 0.00000827●●●●●●
215. 38932981 c.166-8C>T splice site 0.00000827●●●●●●
216. 39070773 c.14511+5G>T splice site 0.00000827●●●●●●
217. 38946399 c.1791+8C>T splice site 0.00000827●●●●●●
218. 39019233 c.10938-6C>T splice site 0.00000827●●●●●●
219. 39068551 c.14173-7T>C splice site 0.00000826●●●●●●
220. 39023308 c.11194-3C>T splice site 0.00000826●●●●●●
221. 39019236 c.10938-3C>T splice site 0.00000826●●●●●●
222. 38946395 c.1791+4G>A splice site 0.00000826●●●●●●
223. 38949781 c.2168-5T>C splice site 0.00000826●●●●●●
224. 39038869 c.12095-4G>T splice site 0.00000826●●●●●●
225. 39058406 c.13515-7C>T splice site 0.00000826●●●●●●
226. 39023126 c.11142-4C>G splice site 0.00000826●●●●●●
227. 39068552 c.14173-6G>A splice site 0.00000826●●●●●●
228. 39019236 c.10938-3C>G splice site 0.00000826●●●●●●
229. 39068560 c.14175C>T splice site 0.00000826●●●●●●
230. 39039064 c.12282+4G>A splice site 0.00000826●●●●●●
231. 38934786 c.425-3T>C splice site 0.00000825●●●●●●
232. 38989887 c.7027+4A>G splice site 0.00000825●●●●●●
233. 39034307 c.11907+7C>T splice site 0.00000825●●●●●●
234. 38934790 c.426A>G splice site 0.00000825●●●●●●
235. 39077960 c.15022-5C>T splice site 0.00000825●●●●●●
236. 38989891 c.7027+8G>A splice site 0.00000825●●●●●●
237. 39071148 c.14646+4A>G splice site 0.00000825●●●●●●
238. 38939282 c.958-7C>G splice site 0.00000825●●●●●●
239. 38998474 c.8932+7A>G splice site 0.00000825●●●●●●
240. 39013850 c.10348-7C>T splice site 0.00000825●●●●●●
241. 39002885 c.9234G>A splice site 0.00000825●●●●●●
242. 39023303 c.11194-8C>T splice site 0.00000825●●●●●●
243. 39066605 c.14172+4A>G splice site 0.00000825●●●●●●
244. 38959938 c.3557-7C>A splice site 0.00000825●●●●●●
245. 38995556 c.8231+5G>A splice site 0.00000824●●●●●●
246. 38948129 c.1792-8A>T splice site 0.00000824●●●●●●
247. 39001135 c.8933-3C>T splice site 0.00000824●●●●●●
248. 38973757 c.4707+4C>A splice site 0.00000824●●●●●●
249. 39076647 c.14868+5G>T splice site 0.00000824●●●●●●
250. 39077158 c.14970-7C>T splice site 0.00000824●●●●●●
251. 38998345 c.8817-7C>T splice site 0.00000824●●●●●●
252. 39034078 c.11778+3G>C splice site 0.00000824●●●●●●
253. 38997020 c.8616+3_8616+4delGA splice site 0.00000824●●●●●●
254. 38948274 c.1925+4T>C splice site 0.00000824●●●●●●
255. 38998472 c.8932+5G>C splice site 0.00000824●●●●●●
256. 38946017 c.1576+7G>A splice site 0.00000824●●●●●●
257. 39070615 c.14365-7C>T splice site 0.00000824●●●●●●
258. 38973760 c.4707+7G>A splice site 0.00000824●●●●●●
259. 38946268 c.1673-5G>A splice site 0.00000824●●●●●●
260. 38945868 c.1441-7A>C splice site 0.00000824●●●●●●
261. 38998346 c.8817-6A>C splice site 0.00000824●●●●●●
262. 38995637 c.8232-6C>T splice site 0.00000824●●●●●●
263. 38948276 c.1925+6G>T splice site 0.00000824●●●●●●
264. 38924514 c.45G>A p.T15T splice site 0.00000824●●●●●●
265. 38946083 c.1577-8C>T splice site 0.00000824●●●●●●
266. 38946014 c.1576+4G>A splice site 0.00000824●●●●●●
267. 39076575 c.14804-3C>T splice site 0.00000824●●●●●●
268. 38998344 c.8817-8C>T splice site 0.00000824●●●●●●
269. 38980088 c.5814+5G>T splice site 0.00000824●●●●●●
270. 39077967 c.15024G>A splice site 0.00000824●●●●●●
271. 38945877 c.1443G>T splice site 0.00000824●●●●●●
272. 38998471 c.8932+4C>T splice site 0.00000824●●●●●●
273. 38995726 c.8310+5_8310+6insGC splice site 0.00000824●●●●●●
274. 39002201 c.9123C>T p.S3041S splice site 0.00000824●●●●●●
275. 38946269 c.1673-4G>T splice site 0.00000824●●●●●●
276. 38946084 c.1577-7C>T splice site 0.00000824●●●●●●
277. 38979812 c.5548-5T>C splice site 0.00000824●●●●●●
278. 39076650 c.14868+8A>G splice site 0.00000824●●●●●●
279. 38946084 c.1577-7C>G splice site 0.00000824●●●●●●
280. 39076646 c.14868+4delG splice site 0.00000824●●●●●●
281. 39070619 c.14365-3C>G splice site 0.00000824●●●●●●
282. 38998345 c.8817-7C>A splice site 0.00000824●●●●●●
283. 39033982 c.11690-5C>G splice site 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.