RYR1 missense variants in ExAC

RYR1 gene summary
RYR1 variants in

The table below lists the RYR1 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. 38983180 c.6178G>T p.G2060C missense 0.06937017●●●●●●
2. 39025366 c.11266C>G p.Q3756E missense 0.03373630●●●●●●
3. 38964275 c.4024A>G p.S1342G missense 0.02214607●●●●●●
4. 38976655 c.5360C>T p.P1787L missense 0.01957103●●●●●●
5. 39018347 c.10747G>C p.E3583Q missense 0.01494159●●●●●●
6. 39057626 c.13513G>C p.D4505H missense 0.00605212●●●●●●
7. 38965975 c.4178A>G p.K1393R missense 0.00507162●●●●●●
8. 39057615 c.13502C>T p.P4501L missense 0.00476566●●●●●●
9. 38995998 c.8360C>G p.T2787S missense 0.00331034●●●●●●
10. 38974116 c.4894C>T p.P1632S missense 0.00322412●●●●●●
11. 38964306 c.4055C>G p.A1352G missense 0.00283326●●●●●●
12. 38964197 c.3946C>A p.P1316T missense 0.00237826●●●●●●
13. 38976294 c.4999C>T p.R1667C missense 0.00210985●●●●●●
14. 39016132 c.10616G>A p.R3539H missense 0.00179153●●●●●●
15. 38958397 c.3326G>A p.R1109K missense 0.00165825●●●●●●
16. 38976331 c.5036G>A p.R1679H missense 0.00153181●●●●●●
17. 38979903 c.5634G>C p.E1878D missense 0.00136966●●●●●●
18. 38973933 c.4711A>G p.I1571V missense 0.00133896●●●●●●
19. 39034444 c.11941C>T p.H3981Y missense 0.00125338●●●●●●
20. 38976612 c.5317C>T p.P1773S missense 0.00110984●●●●●●
21. 38989881 c.7025A>G p.N2342S missense 0.00107307●●●●●●
22. 38955289 c.2797G>A p.A933T missense 0.00099256●●●●●●
23. 39019242 c.10941C>G p.H3647Q missense 0.00097442●●●●●●
24. 38998362 c.8827G>A p.D2943N missense 0.00094733●●●●●●
25. 39056355 c.13381A>T p.T4461S missense 0.00094518●●●●●●
26. 38964277 c.4026C>A p.S1342R missense 0.00093643●●●●●●
27. 39009932 c.10097G>A p.R3366H missense 0.00092724●●●●●●
28. 39034191 c.11798A>G p.Y3933C missense 0.00092332●●●●●●
29. 38995965 c.8327C>T p.S2776F missense 0.00068346●●●●●●
30. 39002893 c.9242T>C p.M3081T missense 0.00065995●●●●●●
31. 38954088 c.2603G>A p.R868H missense 0.00062014●●●●●●
32. 39002913 c.9262G>A p.V3088M missense 0.00060214●●●●●●
33. 38948887 c.2122G>A p.D708N missense 0.00058660●●●●●●
34. 38954162 c.2677G>A p.G893S missense 0.00055185●●●●●●
35. 39056196 c.13222G>C p.A4408P missense 0.00052598●●●●●●
36. 39003004 c.9353C>T p.A3118V missense 0.00052041●●●●●●
37. 38951205 c.2551G>A p.V851M missense 0.00051763●●●●●●
38. 38945887 c.1453A>G p.M485V missense 0.00046948●●●●●●
39. 38951020 c.2366G>A p.R789Q missense 0.00045306●●●●●●
40. 38964281 c.4030G>A p.A1344T missense 0.00044683●●●●●●
41. 39062759 c.13847C>A p.A4616D missense 0.00043656●●●●●●
42. 39009860 c.10025C>T p.A3342V missense 0.00043225●●●●●●
43. 38956968 c.3108C>A p.D1036E missense 0.00042058●●●●●●
44. 38955314 c.2822C>T p.A941V missense 0.00041318●●●●●●
45. 39006807 c.9635A>G p.E3212G missense 0.00041089●●●●●●
46. 39057611 c.13498G>A p.E4500K missense 0.00040962●●●●●●
47. 38989817 c.6961A>G p.I2321V missense 0.00038799●●●●●●
48. 39003006 c.9355C>T p.R3119C missense 0.00035520●●●●●●
49. 39066597 c.14168G>A p.R4723H missense 0.00033806●●●●●●
50. 39027398 c.11599C>T p.R3867C missense 0.00033181●●●●●●
51. 39008026 c.9713A>G p.E3238G missense 0.00032541●●●●●●
52. 38973969 c.4747C>T p.R1583C missense 0.00031334●●●●●●
53. 38948254 c.1909A>G p.I637V missense 0.00031298●●●●●●
54. 38949938 c.2320G>A p.G774R missense 0.00030561●●●●●●
55. 38931433 c.94C>T p.L32F missense 0.00029223●●●●●●
56. 39016080 c.10564C>A p.L3522M missense 0.00028128●●●●●●
57. 38931428 c.89A>T p.E30V missense 0.00028096●●●●●●
58. 38954391 c.2687G>A p.R896Q missense 0.00028013●●●●●●
59. 39056248 c.13274C>A p.A4425E missense 0.00027518●●●●●●
60. 39068642 c.14257G>A p.A4753T missense 0.00027299●●●●●●
61. 39052023 c.12553G>A p.A4185T missense 0.00026569●●●●●●
62. 38995499 c.8179G>A p.A2727T missense 0.00026372●●●●●●
63. 38974087 c.4865G>A p.R1622Q missense 0.00024546●●●●●●
64. 39055603 c.12629A>G p.K4210R missense 0.00023327●●●●●●
65. 38969101 c.4481T>C p.V1494A missense 0.00023114●●●●●●
66. 39017654 c.10648C>T p.R3550W missense 0.00023109●●●●●●
67. 38939015 c.821G>A p.R274H missense 0.00021940●●●●●●
68. 38935300 c.614G>C p.C205S missense 0.00021521●●●●●●
69. 38955304 c.2812G>A p.V938M missense 0.00021501●●●●●●
70. 39056240 c.13266G>C p.E4422D missense 0.00021340●●●●●●
71. 38956793 c.2933C>T p.P978L missense 0.00021054●●●●●●
72. 38934807 c.443C>T p.T148I missense 0.00020610●●●●●●
73. 39057618 c.13505A>G p.E4502G missense 0.00020105●●●●●●
74. 38955362 c.2870C>T p.T957M missense 0.00020011●●●●●●
75. 38996550 c.8505A>T p.E2835D missense 0.00019939●●●●●●
76. 38943477 c.1263C>A p.S421R missense 0.00019833●●●●●●
77. 38959729 c.3505A>C p.M1169L missense 0.00019774●●●●●●
78. 39002230 c.9152G>A p.R3051H missense 0.00019767●●●●●●
79. 38958451 c.3380G>A p.R1127H missense 0.00019567●●●●●●
80. 38974132 c.4910C>T p.A1637V missense 0.00018993●●●●●●
81. 38976616 c.5321C>T p.P1774L missense 0.00018510●●●●●●
82. 38951199 c.2545G>A p.D849N missense 0.00018330●●●●●●
83. 38987055 c.6670C>T p.R2224C missense 0.00018238●●●●●●
84. 38997165 c.8671A>C p.K2891Q missense 0.00018200●●●●●●
85. 38985019 c.6302T>A p.M2101K missense 0.00017940●●●●●●
86. 38954139 c.2654G>A p.R885H missense 0.00017703●●●●●●
87. 38964359 c.4108G>A p.A1370T missense 0.00017609●●●●●●
88. 38995716 c.8305G>A p.D2769N missense 0.00017308●●●●●●
89. 39013682 c.10274C>T p.T3425M missense 0.00017227●●●●●●
90. 38979928 c.5659G>C p.E1887Q missense 0.00016679●●●●●●
91. 38959655 c.3431C>T p.P1144L missense 0.00016485●●●●●●
92. 39038981 c.12203A>G p.K4068R missense 0.00016473●●●●●●
93. 39055809 c.12835G>A p.A4279T missense 0.00016442●●●●●●
94. 39003036 c.9385C>T p.L3129F missense 0.00015728●●●●●●
95. 38949893 c.2275A>G p.N759D missense 0.00015657●●●●●●
96. 39006806 c.9634G>A p.E3212K missense 0.00015550●●●●●●
97. 39025421 c.11321C>T p.A3774V missense 0.00015448●●●●●●
98. 38974080 c.4858G>A p.G1620S missense 0.00015359●●●●●●
99. 38939439 c.1108G>C p.V370L missense 0.00015343●●●●●●
100. 39057590 c.13477C>G p.P4493A missense 0.00015129●●●●●●
101. 38976295 c.5000G>A p.R1667H missense 0.00015126●●●●●●
102. 38968395 c.4339G>A p.V1447M missense 0.00014872●●●●●●
103. 38990577 c.7244G>A p.R2415Q missense 0.00014861●●●●●●
104. 38994909 c.7976C>T p.T2659M missense 0.00014188●●●●●●
105. 38968461 c.4405C>T p.R1469W missense 0.00014107●●●●●●
106. 38958253 c.3182A>G p.Q1061R missense 0.00014022●●●●●●
107. 38931418 c.79G>A p.V27M missense 0.00013980●●●●●●
108. 39018329 c.10729C>T p.R3577W missense 0.00013315●●●●●●
109. 39062761 c.13849G>A p.G4617R missense 0.00013179●●●●●●
110. 39025959 c.11443A>T p.M3815L missense 0.00013179●●●●●●
111. 38943532 c.1318G>A p.V440I missense 0.00012784●●●●●●
112. 38954073 c.2588C>T p.P863L missense 0.00012749●●●●●●
113. 38954130 c.2645C>T p.A882V missense 0.00012597●●●●●●
114. 38966089 c.4292C>T p.T1431M missense 0.00012528●●●●●●
115. 39068655 c.14270G>A p.R4757H missense 0.00012455●●●●●●
116. 39002226 c.9148G>A p.V3050I missense 0.00012355●●●●●●
117. 38974038 c.4816C>T p.R1606C missense 0.00011949●●●●●●
118. 39056208 c.13234G>A p.A4412T missense 0.00011860●●●●●●
119. 38979907 c.5638G>A p.E1880K missense 0.00011640●●●●●●
120. 38934430 c.418G>A p.A140T missense 0.00011587●●●●●●
121. 39051898 c.12428C>T p.A4143V missense 0.00011569●●●●●●
122. 38960007 c.3619G>A p.V1207M missense 0.00011544●●●●●●
123. 38951104 c.2450G>A p.R817Q missense 0.00011533●●●●●●
124. 39034028 c.11731A>G p.T3911A missense 0.00011531●●●●●●
125. 38990451 c.7204C>T p.R2402W missense 0.00011518●●●●●●
126. 38956955 c.3095G>A p.R1032H missense 0.00011352●●●●●●
127. 39056202 c.13228G>C p.E4410Q missense 0.00011254●●●●●●
128. 38974069 c.4847C>T p.T1616M missense 0.00011182●●●●●●
129. 38956856 c.2996G>A p.R999H missense 0.00011014●●●●●●
130. 38956984 c.3124G>A p.V1042M missense 0.00010996●●●●●●
131. 39009932 c.10097G>T p.R3366L missense 0.00010860●●●●●●
132. 38934252 c.325C>T p.R109W missense 0.00010761●●●●●●
133. 38968402 c.4346C>T p.A1449V missense 0.00010743●●●●●●
134. 38937121 c.641C>T p.T214M missense 0.00010726●●●●●●
135. 38946315 c.1715A>C p.E572A missense 0.00010712●●●●●●
136. 38990388 c.7141G>A p.E2381K missense 0.00010323●●●●●●
137. 39056194 c.13220G>T p.G4407V missense 0.00010187●●●●●●
138. 38966047 c.4250C>T p.A1417V missense 0.00010174●●●●●●
139. 39008205 c.9892G>A p.A3298T missense 0.00010032●●●●●●
140. 38983214 c.6212G>A p.R2071Q missense 0.00010022●●●●●●
141. 38956988 c.3128G>A p.R1043H missense 0.00010010●●●●●●
142. 38993586 c.7902C>A p.N2634K missense 0.00009934●●●●●●
143. 38990349 c.7102C>G p.L2368V missense 0.00009921●●●●●●
144. 38951142 c.2488C>T p.R830W missense 0.00009915●●●●●●
145. 39016047 c.10531G>T p.V3511L missense 0.00009911●●●●●●
146. 39017670 c.10664A>T p.N3555I missense 0.00009906●●●●●●
147. 38942492 c.1211A>G p.H404R missense 0.00009893●●●●●●
148. 38935234 c.548C>T p.T183I missense 0.00009886●●●●●●
149. 38946112 c.1598G>A p.R533H missense 0.00009884●●●●●●
150. 38983253 c.6251G>A p.R2084Q missense 0.00009754●●●●●●
151. 39056055 c.13081T>A p.S4361T missense 0.00009682●●●●●●
152. 39056063 c.13089C>A p.F4363L missense 0.00009520●●●●●●
153. 39056154 c.13180G>A p.E4394K missense 0.00009372●●●●●●
154. 39056139 c.13165G>A p.D4389N missense 0.00009314●●●●●●
155. 38964339 c.4088C>T p.A1363V missense 0.00009294●●●●●●
156. 38979932 c.5663A>T p.D1888V missense 0.00009181●●●●●●
157. 38985195 c.6478G>A p.G2160S missense 0.00009126●●●●●●
158. 38996459 c.8414A>C p.Y2805S missense 0.00009091●●●●●●
159. 38933022 c.199G>A p.V67I missense 0.00009071●●●●●●
160. 38959751 c.3527C>T p.T1176I missense 0.00009065●●●●●●
161. 39001164 c.8959G>C p.E2987Q missense 0.00009060●●●●●●
162. 38951037 c.2383C>T p.R795C missense 0.00009060●●●●●●
163. 38964366 c.4115C>T p.A1372V missense 0.00009025●●●●●●
164. 38964364 c.4113G>C p.R1371S missense 0.00008949●●●●●●
165. 38964261 c.4010C>T p.S1337L missense 0.00008754●●●●●●
166. 39055780 c.12806A>G p.E4269G missense 0.00008699●●●●●●
167. 38973951 c.4729G>A p.A1577T missense 0.00008669●●●●●●
168. 39016135 c.10619A>T p.Y3540F missense 0.00008611●●●●●●
169. 38964258 c.4007G>A p.R1336H missense 0.00008590●●●●●●
170. 38974101 c.4879G>A p.V1627M missense 0.00008510●●●●●●
171. 39008014 c.9701A>G p.N3234S missense 0.00008389●●●●●●
172. 38993528 c.7844G>A p.R2615H missense 0.00008365●●●●●●
173. 38996546 c.8501C>G p.T2834R missense 0.00008301●●●●●●
174. 39008109 c.9796A>C p.M3266L missense 0.00008294●●●●●●
175. 38991355 c.7433C>A p.T2478N missense 0.00008281●●●●●●
176. 38990562 c.7229C>T p.P2410L missense 0.00008265●●●●●●
177. 38991503 c.7487C>T p.P2496L missense 0.00008263●●●●●●
178. 38934268 c.341G>A p.R114H missense 0.00008262●●●●●●
179. 39038878 c.12100G>A p.V4034M missense 0.00008251●●●●●●
180. 39038965 c.12187A>G p.M4063V missense 0.00008237●●●●●●
181. 38948185 c.1840C>T p.R614C missense 0.00008236●●●●●●
182. 38991629 c.7613C>T p.T2538M missense 0.00007984●●●●●●
183. 39006843 c.9671C>T p.P3224L missense 0.00007967●●●●●●
184. 38955346 c.2854A>T p.T952S missense 0.00007874●●●●●●
185. 39006845 c.9673C>T p.R3225W missense 0.00007791●●●●●●
186. 39013682 c.10274C>G p.T3425R missense 0.00007656●●●●●●
187. 38964152 c.3901C>T p.R1301C missense 0.00007564●●●●●●
188. 39008208 c.9895G>A p.G3299S missense 0.00007520●●●●●●
189. 39008172 c.9859C>T p.R3287C missense 0.00007515●●●●●●
190. 38985264 c.6547G>A p.G2183R missense 0.00007485●●●●●●
191. 39009877 c.10042C>T p.R3348C missense 0.00007475●●●●●●
192. 38993538 c.7854G>A p.M2618I missense 0.00007475●●●●●●
193. 39018368 c.10768G>A p.E3590K missense 0.00007458●●●●●●
194. 38948696 c.1931G>A p.R644H missense 0.00007441●●●●●●
195. 39016001 c.10485G>C p.K3495N missense 0.00007441●●●●●●
196. 38946368 c.1768G>T p.D590Y missense 0.00007423●●●●●●
197. 38934811 c.447G>A p.M149I missense 0.00007419●●●●●●
198. 39039029 c.12251G>A p.R4084H missense 0.00007414●●●●●●
199. 38956903 c.3043C>T p.R1015C missense 0.00007121●●●●●●
200. 38964203 c.3952G>A p.A1318T missense 0.00007064●●●●●●
201. 38958450 c.3379C>T p.R1127C missense 0.00006804●●●●●●
202. 39057593 c.13480G>A p.E4494K missense 0.00006779●●●●●●
203. 38976582 c.5287C>T p.P1763S missense 0.00006719●●●●●●
204. 39008199 c.9886C>G p.L3296V missense 0.00006688●●●●●●
205. 38990455 c.7208G>A p.R2403H missense 0.00006684●●●●●●
206. 39008209 c.9896G>T p.G3299V missense 0.00006681●●●●●●
207. 38987127 c.6742C>T p.R2248C missense 0.00006648●●●●●●
208. 39008085 c.9772G>A p.E3258K missense 0.00006640●●●●●●
209. 39027396 c.11597A>G p.N3866S missense 0.00006634●●●●●●
210. 38989766 c.6910G>A p.G2304S missense 0.00006620●●●●●●
211. 38960080 c.3692G>A p.R1231H missense 0.00006615●●●●●●
212. 38933074 c.251C>T p.T84M missense 0.00006614●●●●●●
213. 38981268 c.6023T>C p.M2008T missense 0.00006611●●●●●●
214. 38959772 c.3548T>C p.I1183T missense 0.00006593●●●●●●
215. 39062680 c.13768G>A p.E4590K missense 0.00006591●●●●●●
216. 38946103 c.1589G>A p.R530H missense 0.00006589●●●●●●
217. 39025966 c.11450A>T p.D3817V missense 0.00006589●●●●●●
218. 39001381 c.9082G>A p.G3028S missense 0.00006589●●●●●●
219. 39055750 c.12776C>G p.T4259S missense 0.00006472●●●●●●
220. 39057626 c.13513G>A p.D4505N missense 0.00006461●●●●●●
221. 38995968 c.8330A>G p.Y2777C missense 0.00006435●●●●●●
222. 38943500 c.1286C>T p.P429L missense 0.00006390●●●●●●
223. 39068843 c.14363A>G p.N4788S missense 0.00006389●●●●●●
224. 38964215 c.3964G>T p.A1322S missense 0.00006337●●●●●●
225. 39025369 c.11269A>G p.M3757V missense 0.00006211●●●●●●
226. 38943464 c.1250T>C p.L417P missense 0.00006085●●●●●●
227. 38966014 c.4217C>T p.T1406M missense 0.00006012●●●●●●
228. 39006727 c.9555G>C p.K3185N missense 0.00006002●●●●●●
229. 39006743 c.9571G>A p.G3191R missense 0.00005967●●●●●●
230. 39006758 c.9586C>T p.R3196C missense 0.00005910●●●●●●
231. 38939015 c.821G>C p.R274P missense 0.00005907●●●●●●
232. 38985102 c.6385G>A p.D2129N missense 0.00005870●●●●●●
233. 39003117 c.9466G>A p.V3156I missense 0.00005869●●●●●●
234. 39008187 c.9874C>T p.P3292S missense 0.00005862●●●●●●
235. 38964289 c.4038C>G p.N1346K missense 0.00005836●●●●●●
236. 38939041 c.847C>T p.H283Y missense 0.00005835●●●●●●
237. 38987141 c.6756C>A p.D2252E missense 0.00005824●●●●●●
238. 39008113 c.9800C>T p.P3267L missense 0.00005808●●●●●●
239. 39051780 c.12310G>A p.G4104S missense 0.00005801●●●●●●
240. 38948797 c.2032G>A p.A678T missense 0.00005800●●●●●●
241. 38959613 c.3389G>A p.R1130H missense 0.00005790●●●●●●
242. 39076777 c.14915C>T p.T4972I missense 0.00005787●●●●●●
243. 38934267 c.340C>T p.R114C missense 0.00005784●●●●●●
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1696. 39038890 c.12112A>C p.M4038L missense 0.00000824●●●●●●
1697. 39038905 c.12127A>G p.M4043V missense 0.00000824●●●●●●
1698. 39038914 c.12136A>G p.M4046V missense 0.00000824●●●●●●
1699. 39038920 c.12142G>T p.V4048L missense 0.00000824●●●●●●
1700. 39038936 c.12158A>C p.N4053T missense 0.00000824●●●●●●
1701. 39038938 c.12160G>T p.V4054L missense 0.00000824●●●●●●
1702. 39038939 c.12161T>G p.V4054G missense 0.00000824●●●●●●
1703. 39038947 c.12169A>T p.I4057F missense 0.00000824●●●●●●
1704. 39038966 c.12188T>C p.M4063T missense 0.00000824●●●●●●
1705. 39038992 c.12214G>T p.G4072C missense 0.00000824●●●●●●
1706. 39038996 c.12218C>T p.S4073F missense 0.00000824●●●●●●
1707. 39039040 c.12262T>C p.S4088P missense 0.00000824●●●●●●
1708. 39061259 c.13672C>T p.R4558W missense 0.00000824●●●●●●
1709. 39061281 c.13694T>G p.F4565C missense 0.00000824●●●●●●
1710. 39061298 c.13711G>T p.A4571S missense 0.00000824●●●●●●
1711. 39062720 c.13808G>A p.G4603D missense 0.00000824●●●●●●
1712. 39062738 c.13826G>A p.S4609N missense 0.00000824●●●●●●
1713. 39062758 c.13846G>T p.A4616S missense 0.00000824●●●●●●
1714. 39062759 c.13847C>G p.A4616G missense 0.00000824●●●●●●
1715. 39062777 c.13865G>C p.G4622A missense 0.00000824●●●●●●
1716. 39062786 c.13874A>G p.D4625G missense 0.00000824●●●●●●
1717. 39062813 c.13901A>T p.E4634V missense 0.00000824●●●●●●
1718. 39062830 c.13918A>G p.M4640V missense 0.00000824●●●●●●
1719. 39062836 c.13924C>G p.P4642A missense 0.00000824●●●●●●
1720. 39063832 c.14014T>C p.F4672L missense 0.00000824●●●●●●
1721. 39066567 c.14138C>G p.P4713R missense 0.00000824●●●●●●
1722. 39066578 c.14149T>C p.W4717R missense 0.00000824●●●●●●
1723. 39070642 c.14385G>T p.W4795C missense 0.00000824●●●●●●
1724. 39070718 c.14461G>T p.V4821F missense 0.00000824●●●●●●
1725. 39070730 c.14473C>A p.R4825S missense 0.00000824●●●●●●
1726. 39070733 c.14476A>C p.T4826P missense 0.00000824●●●●●●
1727. 39071091 c.14593A>G p.N4865D missense 0.00000824●●●●●●
1728. 39071118 c.14620G>A p.D4874N missense 0.00000824●●●●●●
1729. 39071118 c.14620G>C p.D4874H missense 0.00000824●●●●●●
1730. 39076589 c.14815G>A p.D4939N missense 0.00000824●●●●●●
1731. 39077177 c.14982G>A p.M4994I missense 0.00000824●●●●●●
1732. 39077214 c.15019C>A p.Q5007K 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.