RYR2 variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 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. 237957161 c.13783-6A>G splice site 0.73988781●●●●●●
2. 237551376 c.677-11T>A splice site 0.57513908●●●●●●
3. 237946964 c.11963-11T>C splice site 0.48585501●●●●●●
4. 237540615 c.464-8A>C splice site 0.30214740●●●●●●
5. 237841390 c.8873A>G p.Q2958R missense 0.25333096●●●●●●
6. 237586384 c.849-8T>C splice site 0.14033323●●●●●●
7. 237774051 c.4684-11C>T splice site 0.04652223●●●●●●
8. 237778084 c.5656G>A p.G1886S missense 0.04384803●●●●●●
9. 237755076 c.4198A>G p.S1400G missense 0.01824471●●●●●●
10. 237620034 c.1611G>A p.L537L splice site 0.01702357●●●●●●
11. 237778082 c.5654G>A p.G1885E missense 0.01540311●●●●●●
12. 237664004 c.2204-7C>G splice site 0.01028426●●●●●●
13. 237774057 c.4684-5G>C splice site 0.00944417●●●●●●
14. 237666583 c.2397-6C>T splice site 0.00934472●●●●●●
15. 237829804 c.8437-8_8437-7insG splice site 0.00933859●●●●●●
16. 237730059 c.3407C>T p.A1136V missense 0.00706336●●●●●●
17. 237865367 c.9449+8T>A splice site 0.00694431●●●●●●
18. 237801796 c.6928+4G>A splice site 0.00435582●●●●●●
19. 237619942 c.1519G>A p.V507I missense 0.00419575●●●●●●
20. 237955407 c.13566C>T p.V4522V splice site 0.00222840●●●●●●
21. 237969494 c.14209delT p.Phe4739LeufsTer15 frameshift 0.00220303●●●●●●
22. 237540742 c.576+7G>C splice site 0.00199804●●●●●●
23. 237880494 c.10324-4A>G splice site 0.00183136●●●●●●
24. 237875041 c.10231-4T>C splice site 0.00114491●●●●●●
25. 237730032 c.3380A>G p.E1127G missense 0.00112611●●●●●●
26. 237875040 c.10231-5C>T splice site 0.00095120●●●●●●
27. 237794849 c.6555+8C>T splice site 0.00082406●●●●●●
28. 237670026 c.2630A>C p.H877P missense 0.00079605●●●●●●
29. 237794847 c.6555+6G>A splice site 0.00079382●●●●●●
30. 237527679 c.309+7C>T splice site 0.00076401●●●●●●
31. 237821276 c.8162T>C p.I2721T missense 0.00057431●●●●●●
32. 237868623 c.9560A>G p.K3187R missense 0.00055332●●●●●●
33. 237711862 c.3038G>A p.R1013Q missense 0.00045710●●●●●●
34. 237778108 c.5680C>A p.L1894I missense 0.00044471●●●●●●
35. 237791277 c.6337G>A p.V2113M missense 0.00043210●●●●●●
36. 237949299 c.13291G>A p.E4431K missense 0.00040787●●●●●●
37. 237872179 c.9923A>G p.N3308S missense 0.00036049●●●●●●
38. 237765380 c.4652A>G p.N1551S missense 0.00035087●●●●●●
39. 237604635 c.1022G>C p.G341A missense 0.00034805●●●●●●
40. 237841339 c.8831-9A>C splice site 0.00032904●●●●●●
41. 237729972 c.3320C>T p.T1107M missense 0.00032295●●●●●●
42. 237754226 c.4094C>T p.A1365V missense 0.00031542●●●●●●
43. 237538008 c.385-9A>C splice site 0.00029118●●●●●●
44. 237965166 c.14101A>G p.I4701V missense 0.00026795●●●●●●
45. 237831176 c.8515-7A>G splice site 0.00026451●●●●●●
46. 237870488 c.9820A>G p.N3274D missense 0.00026389●●●●●●
47. 237538102 c.463+7A>G splice site 0.00026135●●●●●●
48. 237604748 c.1135G>A p.V379M missense 0.00025829●●●●●●
49. 237774071 c.4693C>G p.P1565A missense 0.00025438●●●●●●
50. 237675024 c.2755G>A p.V919M missense 0.00025134●●●●●●
51. 237753215 c.3721G>A p.V1241I missense 0.00024890●●●●●●
52. 237994808 c.14757-6C>T splice site 0.00024573●●●●●●
53. 237811896 c.7495G>A p.A2499T missense 0.00024501●●●●●●
54. 237994807 c.14757-7T>A splice site 0.00023723●●●●●●
55. 237666602 c.2410C>T p.L804F missense 0.00023095●●●●●●
56. 237693732 c.2828T>C p.L943S missense 0.00022953●●●●●●
57. 237948081 c.13069G>A p.A4357T missense 0.00022763●●●●●●
58. 237947931 c.12919C>T p.R4307C missense 0.00022382●●●●●●
59. 237729882 c.3230T>C p.V1077A missense 0.00020915●●●●●●
60. 237955513 c.13672C>T p.H4558Y missense 0.00020481●●●●●●
61. 237758806 c.4445G>A p.R1482H missense 0.00019939●●●●●●
62. 237664074 c.2267G>A p.S756N missense 0.00019884●●●●●●
63. 237538100 c.463+5_463+6insC splice site 0.00019229●●●●●●
64. 237823282 c.8209-3A>G splice site 0.00018393●●●●●●
65. 237838114 c.8798T>G p.V2933G missense 0.00018057●●●●●●
66. 237730008 c.3356G>A p.R1119H missense 0.00017389●●●●●●
67. 237655219 c.1822C>T p.H608Y missense 0.00017285●●●●●●
68. 237617878 c.1476+4C>T splice site 0.00017227●●●●●●
69. 237802485 c.7099G>A p.G2367R missense 0.00017098●●●●●●
70. 237868510 c.9450-3T>C splice site 0.00017088●●●●●●
71. 237778042 c.5614G>A p.D1872N missense 0.00016728●●●●●●
72. 237870269 c.9601G>A p.V3201M missense 0.00016721●●●●●●
73. 237656365 c.1939C>T p.R647C missense 0.00016657●●●●●●
74. 237758826 c.4465T>C p.C1489R missense 0.00016598●●●●●●
75. 237777722 c.5294C>G p.S1765C missense 0.00016565●●●●●●
76. 237713928 c.3151C>T p.R1051C missense 0.00016511●●●●●●
77. 237711759 c.2935G>T p.A979S missense 0.00016122●●●●●●
78. 237889583 c.10700G>A p.R3567H missense 0.00015256●●●●●●
79. 237666809 c.2613+4_2613+5insCTTG splice site 0.00014959●●●●●●
80. 237729903 c.3251G>A p.R1084K missense 0.00014926●●●●●●
81. 237608773 c.1243A>G p.T415A missense 0.00014921●●●●●●
82. 237586469 c.926T>C p.M309T missense 0.00014909●●●●●●
83. 237205840 c.19G>A p.G7S missense 0.00014273●●●●●●
84. 237550653 c.649A>G p.I217V missense 0.00014078●●●●●●
85. 237813283 c.7619A>G p.H2540R missense 0.00014076●●●●●●
86. 237994868 c.14808+3A>G splice site 0.00013912●●●●●●
87. 237905586 c.11092-10A>T splice site 0.00013909●●●●●●
88. 237880555 c.10381A>G p.M3461V missense 0.00013671●●●●●●
89. 237619934 c.1511G>A p.R504H missense 0.00012476●●●●●●
90. 237655186 c.1789A>G p.I597V missense 0.00012414●●●●●●
91. 237829824 c.8449G>A p.A2817T missense 0.00012132●●●●●●
92. 237732616 c.3595G>A p.D1199N missense 0.00012074●●●●●●
93. 237850814 c.9067+10C>T splice site 0.00012045●●●●●●
94. 237670107 c.2711A>G p.Y904C missense 0.00012042●●●●●●
95. 237205869 c.48T>C splice site 0.00011979●●●●●●
96. 237791373 c.6433G>C p.G2145R missense 0.00011754●●●●●●
97. 237617794 c.1396C>G p.P466A missense 0.00011639●●●●●●
98. 237788984 c.6046T>A p.S2016T missense 0.00011603●●●●●●
99. 237811894 c.7493C>T p.A2498V missense 0.00011592●●●●●●
100. 237814784 c.7807G>A p.A2603T missense 0.00011459●●●●●●
101. 237586541 c.998C>T p.S333F missense 0.00011109●●●●●●
102. 237780626 c.5756G>A p.R1919Q missense 0.00010878●●●●●●
103. 237670025 c.2629C>T p.H877Y missense 0.00010775●●●●●●
104. 237586435 c.892C>T p.R298C missense 0.00010767●●●●●●
105. 237519262 c.274-3C>T splice site 0.00010322●●●●●●
106. 237947059 c.12047T>A p.F4016Y missense 0.00010211●●●●●●
107. 237863590 c.9190G>A p.A3064T missense 0.00010122●●●●●●
108. 237951285 c.13329-3T>C splice site 0.00010116●●●●●●
109. 237955468 c.13627A>G p.K4543E missense 0.00010017●●●●●●
110. 237947553 c.12541G>A p.G4181R missense 0.00009938●●●●●●
111. 237433824 c.76G>A p.A26T missense 0.00009908●●●●●●
112. 237969494 c.14209dupT p.Ala4740CysfsTer56 frameshift 0.00009655●●●●●●
113. 237947118 c.12106G>A p.D4036N missense 0.00009481●●●●●●
114. 237947854 c.12842C>T p.T4281M missense 0.00009195●●●●●●
115. 237604757 c.1144G>A p.V382M missense 0.00009186●●●●●●
116. 237824218 c.8407C>T p.R2803W missense 0.00009179●●●●●●
117. 237947677 c.12665_12667delAGA p.Lys4223del inframe 0.00009141●●●●●●
118. 237619984 c.1561G>A p.E521K missense 0.00009123●●●●●●
119. 237713929 c.3152G>A p.R1051H missense 0.00008803●●●●●●
120. 237617852 c.1454G>A p.R485Q missense 0.00008645●●●●●●
121. 237774070 c.4692G>A p.M1564I missense 0.00008584●●●●●●
122. 237811912 c.7511C>T p.T2504M missense 0.00008563●●●●●●
123. 237817674 c.7925G>A p.R2642K missense 0.00008334●●●●●●
124. 237777856 c.5428G>C p.V1810L missense 0.00008297●●●●●●
125. 237948232 c.13220G>A p.S4407N missense 0.00008269●●●●●●
126. 237955441 c.13600C>T p.P4534S missense 0.00007994●●●●●●
127. 237961337 c.13957G>A p.V4653I missense 0.00007794●●●●●●
128. 237580431 c.848+8G>C splice site 0.00007639●●●●●●
129. 237787071 c.5923A>G p.M1975V missense 0.00007522●●●●●●
130. 237870323 c.9655G>A p.V3219M missense 0.00007462●●●●●●
131. 237923072 c.11326-4A>G splice site 0.00007458●●●●●●
132. 237532877 c.353C>T p.A118V missense 0.00007329●●●●●●
133. 237670038 c.2642T>G p.I881R missense 0.00006953●●●●●●
134. 237787175 c.6022+5G>A splice site 0.00006805●●●●●●
135. 237905624 c.11120G>C p.G3707A missense 0.00006795●●●●●●
136. 237527680 c.309+8_309+12delATCTT splice site 0.00006741●●●●●●
137. 237780663 c.5793T>G p.D1931E missense 0.00006698●●●●●●
138. 237802446 c.7060G>A p.A2354T missense 0.00006692●●●●●●
139. 237774113 c.4735G>A p.V1579M missense 0.00006690●●●●●●
140. 237617756 c.1358G>C p.S453T missense 0.00006642●●●●●●
141. 237754201 c.4069G>C p.D1357H missense 0.00006633●●●●●●
142. 237801654 c.6793-3C>T splice site 0.00006626●●●●●●
143. 237730050 c.3398G>A p.R1133H missense 0.00006625●●●●●●
144. 237924275 c.11423T>A p.F3808Y missense 0.00006560●●●●●●
145. 237889591 c.10708C>T p.R3570W missense 0.00006211●●●●●●
146. 237433799 c.51T>C p.D17D splice site 0.00006117●●●●●●
147. 237843796 c.8936G>A p.R2979H missense 0.00006102●●●●●●
148. 237754015 c.3883A>G p.S1295G missense 0.00006095●●●●●●
149. 237755151 c.4273A>G p.T1425A missense 0.00006081●●●●●●
150. 237732629 c.3598+10C>G splice site 0.00006040●●●●●●
151. 237936813 c.11647-7T>C splice site 0.00005959●●●●●●
152. 237802462 c.7076G>A p.R2359Q missense 0.00005874●●●●●●
153. 237870447 c.9779G>A p.R3260Q missense 0.00005817●●●●●●
154. 237617752 c.1354G>A p.V452I missense 0.00005813●●●●●●
155. 237711849 c.3025C>T p.R1009W missense 0.00005810●●●●●●
156. 237664196 c.2389G>A p.G797R missense 0.00005801●●●●●●
157. 237870335 c.9667G>A p.E3223K missense 0.00005801●●●●●●
158. 237923148 c.11398T>A p.C3800S missense 0.00005800●●●●●●
159. 237870359 c.9691A>G p.M3231V missense 0.00005798●●●●●●
160. 237801653 c.6793-4G>A splice site 0.00005798●●●●●●
161. 237754299 c.4160+7A>G splice site 0.00005764●●●●●●
162. 237954780 c.13528G>A p.A4510T missense 0.00005747●●●●●●
163. 237755067 c.4189T>A p.Y1397N missense 0.00005619●●●●●●
164. 237666594 c.2402G>T p.R801L missense 0.00005509●●●●●●
165. 237841417 c.8895+5A>G splice site 0.00005485●●●●●●
166. 237774218 c.4840C>T p.R1614C missense 0.00005407●●●●●●
167. 237755119 c.4241G>A p.R1414Q missense 0.00005403●●●●●●
168. 237811860 c.7459C>A p.L2487I missense 0.00005355●●●●●●
169. 237823379 c.8298+5G>A splice site 0.00005331●●●●●●
170. 237875072 c.10258G>A p.V3420I missense 0.00005127●●●●●●
171. 237947779 c.12767T>C p.M4256T missense 0.00005078●●●●●●
172. 237619893 c.1477-7G>A splice site 0.00005039●●●●●●
173. 237829825 c.8450C>T p.A2817V missense 0.00005021●●●●●●
174. 237843793 c.8933A>T p.H2978L missense 0.00005018●●●●●●
175. 237777998 c.5570C>T p.P1857L missense 0.00004999●●●●●●
176. 237617790 c.1392C>A p.H464Q missense 0.00004988●●●●●●
177. 237666809 c.2613+4C>G splice site 0.00004986●●●●●●
178. 237791260 c.6320C>T p.T2107M missense 0.00004983●●●●●●
179. 237756888 c.4388G>A p.R1463H missense 0.00004975●●●●●●
180. 237670011 c.2615T>C p.I872T missense 0.00004932●●●●●●
181. 237872202 c.9946A>G p.K3316E missense 0.00004882●●●●●●
182. 237755056 c.4178delC p.Thr1393LysfsTer28 frameshift 0.00004822●●●●●●
183. 237838150 c.8830+4G>A splice site 0.00004764●●●●●●
184. 237949334 c.13326C>T splice site 0.00004763●●●●●●
185. 237824245 c.8434C>G p.Q2812E missense 0.00004746●●●●●●
186. 237841393 c.8876A>C p.E2959A missense 0.00004721●●●●●●
187. 237824219 c.8408G>A p.R2803Q missense 0.00004589●●●●●●
188. 237824125 c.8314C>T p.R2772C missense 0.00004557●●●●●●
189. 237824189 c.8378G>A p.R2793Q missense 0.00004512●●●●●●
190. 237824153 c.8342C>T p.T2781I missense 0.00004510●●●●●●
191. 237433891 c.143T>C p.F48S missense 0.00004480●●●●●●
192. 237821259 c.8145G>T p.E2715D missense 0.00004472●●●●●●
193. 237821261 c.8147A>T p.K2716I missense 0.00004467●●●●●●
194. 237934127 c.11497G>A p.D3833N missense 0.00004450●●●●●●
195. 237821272 c.8158T>C p.F2720L missense 0.00004430●●●●●●
196. 237889582 c.10699C>T p.R3567C missense 0.00004405●●●●●●
197. 237666641 c.2449C>G p.P817A missense 0.00004403●●●●●●
198. 237711733 c.2909A>G p.Y970C missense 0.00004380●●●●●●
199. 237947103 c.12091A>G p.T4031A missense 0.00004370●●●●●●
200. 237814727 c.7750A>G p.M2584V missense 0.00004279●●●●●●
201. 237947812 c.12800A>G p.Q4267R missense 0.00004228●●●●●●
202. 237947838 c.12826G>A p.V4276M missense 0.00004202●●●●●●
203. 237540715 c.556G>A p.V186M missense 0.00004184●●●●●●
204. 237617702 c.1304C>T p.A435V missense 0.00004181●●●●●●
205. 237881784 c.10517G>A p.R3506Q missense 0.00004174●●●●●●
206. 237788954 c.6023-7A>G splice site 0.00004164●●●●●●
207. 237837397 c.8592A>G splice site 0.00004163●●●●●●
208. 237791220 c.6280G>A p.G2094S missense 0.00004161●●●●●●
209. 237942074 c.11880+4_11880+7delAACT splice site 0.00004159●●●●●●
210. 237791286 c.6346A>G p.T2116A missense 0.00004156●●●●●●
211. 237870446 c.9778C>T p.R3260W missense 0.00004153●●●●●●
212. 237754228 c.4096A>G p.T1366A missense 0.00004151●●●●●●
213. 237632454 c.1675A>G p.I559V missense 0.00004151●●●●●●
214. 237886553 c.10680T>A p.H3560Q missense 0.00004150●●●●●●
215. 237947416 c.12404G>A p.R4135H missense 0.00004146●●●●●●
216. 237659822 c.1973A>G p.N658S missense 0.00004144●●●●●●
217. 237817574 c.7825C>T splice site 0.00004144●●●●●●
218. 237870337 c.9669G>C p.E3223D missense 0.00004143●●●●●●
219. 237947439 c.12427A>C p.K4143Q missense 0.00004143●●●●●●
220. 237659836 c.1987G>A p.V663I missense 0.00004142●●●●●●
221. 237666765 c.2573C>T p.T858M missense 0.00004142●●●●●●
222. 237664082 c.2275T>A p.L759I missense 0.00004142●●●●●●
223. 237806639 c.7234G>A p.G2412R missense 0.00004141●●●●●●
224. 237777722 c.5294C>T p.S1765F missense 0.00004141●●●●●●
225. 237659953 c.2104G>A p.G702R missense 0.00004140●●●●●●
226. 237868632 c.9569G>A p.R3190Q missense 0.00004084●●●●●●
227. 237819152 c.7997T>A p.L2666Q missense 0.00004076●●●●●●
228. 237872827 c.10190G>T p.R3397L missense 0.00004056●●●●●●
229. 237863530 c.9130A>T p.T3044S missense 0.00003971●●●●●●
230. 237780587 c.5717T>C p.M1906T missense 0.00003954●●●●●●
231. 237889612 c.10725+4A>T splice site 0.00003948●●●●●●
232. 237951310 c.13351G>A p.E4451K missense 0.00003937●●●●●●
233. 237831269 c.8590+11C>T splice site 0.00003903●●●●●●
234. 237905607 c.11103T>A p.D3701E missense 0.00003736●●●●●●
235. 237831260 c.8590+2T>C essential splice site 0.00003723●●●●●●
236. 237946971 c.11963-4C>T splice site 0.00003720●●●●●●
237. 237862282 c.9085A>G p.I3029V missense 0.00003710●●●●●●
238. 237823324 c.8248T>A p.S2750T missense 0.00003709●●●●●●
239. 237823338 c.8262G>C p.Q2754H missense 0.00003708●●●●●●
240. 237831262 c.8590+4A>G splice site 0.00003707●●●●●●
241. 237532864 c.340C>G p.L114V missense 0.00003701●●●●●●
242. 237875080 c.10266G>C p.Q3422H missense 0.00003682●●●●●●
243. 237789112 c.6166+8G>A splice site 0.00003581●●●●●●
244. 237780632 c.5762G>A p.R1921Q missense 0.00003537●●●●●●
245. 237872251 c.9995C>T p.T3332M missense 0.00003525●●●●●●
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251. 237604778 c.1165C>T p.R389C missense 0.00003396●●●●●●
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256. 237881790 c.10523T>C p.I3508T missense 0.00003340●●●●●●
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275. 237886513 c.10640C>T p.T3547M missense 0.00003313●●●●●●
276. 237659894 c.2045C>G p.T682R missense 0.00003312●●●●●●
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282. 237774123 c.4745_4746insC p.Arg1585AlafsTer29 frameshift 0.00003192●●●●●●
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287. 237924314 c.11462C>T p.T3821I missense 0.00003052●●●●●●
288. 237872826 c.10189C>T p.R3397C missense 0.00003044●●●●●●
289. 237798272 c.6772C>T p.R2258C missense 0.00003041●●●●●●
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312. 237754277 c.4145C>G p.S1382C missense 0.00002595●●●●●●
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315. 237713941 c.3164G>A p.R1055H missense 0.00002566●●●●●●
316. 237947253 c.12241G>A p.E4081K missense 0.00002565●●●●●●
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330. 237947849 c.12837G>A p.M4279I missense 0.00002511●●●●●●
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336. 237947343 c.12331A>C p.N4111H missense 0.00002501●●●●●●
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339. 237617722 c.1324G>T p.A442S missense 0.00002495●●●●●●
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342. 237895428 c.11018G>A p.R3673Q missense 0.00002493●●●●●●
343. 237780692 c.5822G>A p.R1941H missense 0.00002491●●●●●●
344. 237870440 c.9772C>T p.P3258S missense 0.00002491●●●●●●
345. 237754229 c.4097C>A p.T1366N missense 0.00002491●●●●●●
346. 237780691 c.5821C>T p.R1941C missense 0.00002491●●●●●●
347. 237711850 c.3026G>A p.R1009Q missense 0.00002490●●●●●●
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349. 237813192 c.7528A>G p.T2510A missense 0.00002488●●●●●●
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351. 237608802 c.1272C>G p.F424L missense 0.00002488●●●●●●
352. 237777418 c.4990G>A p.V1664I missense 0.00002488●●●●●●
353. 237777626 c.5198C>T p.T1733M missense 0.00002488●●●●●●
354. 237947956 c.12944G>A p.G4315E missense 0.00002487●●●●●●
355. 237754201 c.4069G>A p.D1357N missense 0.00002487●●●●●●
356. 237608780 c.1250G>A p.R417Q missense 0.00002487●●●●●●
357. 237947929 c.12917T>C p.F4306S missense 0.00002487●●●●●●
358. 237777474 c.5046A>C p.E1682D missense 0.00002486●●●●●●
359. 237870404 c.9736A>G p.M3246V missense 0.00002486●●●●●●
360. 237666737 c.2545G>A p.D849N missense 0.00002485●●●●●●
361. 237604656 c.1043G>A p.G348D missense 0.00002485●●●●●●
362. 237666758 c.2566T>C p.S856P missense 0.00002485●●●●●●
363. 237813288 c.7624G>T p.A2542S missense 0.00002484●●●●●●
364. 237813372 c.7708G>A p.E2570K missense 0.00002484●●●●●●
365. 237972203 c.14301C>T p.L4767L splice site 0.00002484●●●●●●
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368. 237813285 c.7621C>A p.H2541N missense 0.00002484●●●●●●
369. 237713940 c.3163C>T p.R1055C missense 0.00002481●●●●●●
370. 237666612 c.2420G>A p.R807Q missense 0.00002475●●●●●●
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372. 237955411 c.13570A>G p.T4524A missense 0.00002457●●●●●●
373. 237955412 c.13571_13573delCTT p.Ser4526del inframe 0.00002457●●●●●●
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381. 237841391 c.8874A>T p.Q2958H missense 0.00002335●●●●●●
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388. 237872857 c.10220C>T p.S3407L missense 0.00002271●●●●●●
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390. 237814721 c.7744C>A p.P2582T missense 0.00002231●●●●●●
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393. 237774114 c.4736T>C p.V1579A missense 0.00002215●●●●●●
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396. 237433884 c.136C>A p.L46I missense 0.00002188●●●●●●
397. 237949311 c.13303A>G p.T4435A missense 0.00002182●●●●●●
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405. 237527664 c.301A>T p.M101L missense 0.00002135●●●●●●
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415. 237949282 c.13274_13276delAAG p.Glu4428del inframe 0.00002091●●●●●●
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417. 237949275 c.13267A>C p.K4423Q missense 0.00002072●●●●●●
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422. 237814775 c.7798A>G p.N2600D missense 0.00002040●●●●●●
423. 237889602 c.10719_10720delCT p.Y3573*fs*1 frameshift 0.00002007●●●●●●
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426. 237863626 c.9226A>C p.K3076Q missense 0.00001995●●●●●●
427. 237538041 c.409C>T p.R137W missense 0.00001988●●●●●●
428. 237656276 c.1850T>C p.L617P missense 0.00001987●●●●●●
429. 237538044 c.412T>G p.S138A missense 0.00001972●●●●●●
430. 237829830 c.8455C>T p.H2819Y missense 0.00001968●●●●●●
431. 237794731 c.6445A>G p.I2149V missense 0.00001946●●●●●●
432. 237774260 c.4882A>G p.M1628V missense 0.00001933●●●●●●
433. 237961428 c.14048G>A p.R4683K missense 0.00001928●●●●●●
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435. 237961429 c.14049A>T p.R4683S missense 0.00001925●●●●●●
436. 237778151 c.5715+8G>A splice site 0.00001917●●●●●●
437. 237670013 c.2617G>A p.V873M missense 0.00001915●●●●●●
438. 237774252 c.4874T>G p.L1625R missense 0.00001873●●●●●●
439. 237780620 c.5750A>G p.Q1917R missense 0.00001863●●●●●●
440. 237819291 c.8129+7A>T splice site 0.00001861●●●●●●
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442. 237947069 c.12057G>A p.M4019I missense 0.00001839●●●●●●
443. 237753959 c.3827C>T p.T1276I missense 0.00001816●●●●●●
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445. 237774207 c.4829G>A p.R1610Q missense 0.00001810●●●●●●
446. 237670023 c.2627C>T p.P876L missense 0.00001807●●●●●●
447. 237774219 c.4841G>A p.R1614H missense 0.00001803●●●●●●
448. 237819262 c.8107C>A p.P2703T missense 0.00001791●●●●●●
449. 237551479 c.769C>T p.R257W missense 0.00001784●●●●●●
450. 237955631 c.13782+8_13782+11delAGTA splice site 0.00001774●●●●●●
451. 237656366 c.1940G>A p.R647H missense 0.00001752●●●●●●
452. 237656377 c.1951C>T p.H651Y missense 0.00001745●●●●●●
453. 237872404 c.10142+6A>T splice site 0.00001742●●●●●●
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455. 237865317 c.9407G>A p.S3136N missense 0.00001731●●●●●●
456. 237670113 c.2717C>T p.P906L missense 0.00001726●●●●●●
457. 237670112 c.2716C>G p.P906A missense 0.00001723●●●●●●
458. 237789091 c.6153C>G p.D2051E missense 0.00001720●●●●●●
459. 237754022 c.3890C>A p.T1297N missense 0.00001716●●●●●●
460. 237995927 c.14884T>A p.Y4962N missense 0.00001713●●●●●●
461. 237838107 c.8791C>T p.R2931C missense 0.00001711●●●●●●
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463. 237713914 c.3137A>G p.N1046S missense 0.00001706●●●●●●
464. 237754028 c.3896T>C p.I1299T missense 0.00001701●●●●●●
465. 237670094 c.2698C>T p.L900F missense 0.00001700●●●●●●
466. 237919694 c.11245+7T>G splice site 0.00001699●●●●●●
467. 237802480 c.7094A>G p.N2365S missense 0.00001698●●●●●●
468. 237754029 c.3897C>G p.I1299M missense 0.00001698●●●●●●
469. 237758961 c.4596+4C>T splice site 0.00001697●●●●●●
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471. 237947781 c.12769C>T p.R4257X nonsense 0.00001695●●●●●●
472. 237802477 c.7091C>G p.P2364R missense 0.00001695●●●●●●
473. 237540628 c.469G>T p.A157S missense 0.00001693●●●●●●
474. 237670062 c.2666T>C p.I889T missense 0.00001693●●●●●●
475. 237880618 c.10444G>A p.A3482T missense 0.00001693●●●●●●
476. 237880613 c.10439T>C p.I3480T missense 0.00001691●●●●●●
477. 237863774 c.9367+7delA splice site 0.00001690●●●●●●
478. 237660056 c.2203+4C>T splice site 0.00001689●●●●●●
479. 237580424 c.848+1G>A essential splice site 0.00001688●●●●●●
480. 237753090 c.3599-3C>A splice site 0.00001688●●●●●●
481. 237660054 c.2203+2_2203+3insAC splice site 0.00001686●●●●●●
482. 237872308 c.10052C>T p.A3351V missense 0.00001684●●●●●●
483. 237619893 c.1477-7G>T splice site 0.00001680●●●●●●
484. 237965163 c.14098T>G p.S4700A missense 0.00001675●●●●●●
485. 237586525 c.982G>A p.A328T missense 0.00001674●●●●●●
486. 237540649 c.490C>A p.P164T missense 0.00001673●●●●●●
487. 237753261 c.3767C>T p.P1256L missense 0.00001673●●●●●●
488. 237893618 c.10897G>A p.E3633K missense 0.00001673●●●●●●
489. 237664033 c.2226C>G p.S742R missense 0.00001672●●●●●●
490. 237753260 c.3766C>A p.P1256T missense 0.00001672●●●●●●
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521. 237969452 c.14167G>A p.A4723T missense 0.00001661●●●●●●
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534. 237758859 c.4498C>T p.R1500C missense 0.00001659●●●●●●
535. 237777617 c.5189C>T p.T1730M missense 0.00001659●●●●●●
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537. 237870309 c.9641T>A p.L3214H missense 0.00001659●●●●●●
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539. 237921003 c.11252C>G p.T3751S missense 0.00001659●●●●●●
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541. 237982500 c.14590+8_14590+10delTCC splice site 0.00001659●●●●●●
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543. 237664201 c.2394A>G p.I798M missense 0.00001658●●●●●●
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546. 237608737 c.1207A>C p.I403L missense 0.00001658●●●●●●
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549. 237777577 c.5149G>T p.A1717S missense 0.00001658●●●●●●
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551. 237756887 c.4387C>T p.R1463C missense 0.00001658●●●●●●
552. 237777434 c.5006A>G p.N1669S missense 0.00001658●●●●●●
553. 237777449 c.5021A>G p.H1674R missense 0.00001658●●●●●●
554. 237870423 c.9755A>G p.H3252R missense 0.00001658●●●●●●
555. 237921021 c.11270C>A p.A3757D missense 0.00001658●●●●●●
556. 237947932 c.12920G>A p.R4307H missense 0.00001658●●●●●●
557. 237754063 c.3931G>A p.A1311T missense 0.00001657●●●●●●
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559. 237659825 c.1976T>G p.I659S missense 0.00001657●●●●●●
560. 237754117 c.3985G>A p.G1329R missense 0.00001657●●●●●●
561. 237754142 c.4010A>G p.Y1337C missense 0.00001657●●●●●●
562. 237777524 c.5096G>A p.R1699H missense 0.00001657●●●●●●
563. 237777706 c.5278C>T p.R1760W missense 0.00001657●●●●●●
564. 237777791 c.5363A>C p.K1788T missense 0.00001657●●●●●●
565. 237788990 c.6052G>A p.D2018N missense 0.00001657●●●●●●
566. 237993882 c.14708A>G p.H4903R missense 0.00001657●●●●●●
567. 237806708 c.7303G>T p.V2435F missense 0.00001656●●●●●●
568. 237730013 c.3361G>C p.G1121R missense 0.00001656●●●●●●
569. 237754087 c.3955G>A p.A1319T missense 0.00001656●●●●●●
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571. 237806720 c.7315G>A p.A2439T missense 0.00001656●●●●●●
572. 237550600 c.596G>T p.G199V missense 0.00001656●●●●●●
573. 237659873 c.2024A>G p.Y675C missense 0.00001656●●●●●●
574. 237659888 c.2039A>G p.D680G missense 0.00001656●●●●●●
575. 237659897 c.2048A>C p.E683A missense 0.00001656●●●●●●
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577. 237730023 c.3371C>T p.P1124L missense 0.00001656●●●●●●
578. 237730049 c.3397C>T p.R1133C missense 0.00001656●●●●●●
579. 237754082 c.3950C>T p.T1317M missense 0.00001656●●●●●●
580. 237806637 c.7232C>G p.A2411G missense 0.00001656●●●●●●
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582. 237813360 c.7696C>T p.R2566W missense 0.00001656●●●●●●
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585. 237972204 c.14302G>A p.V4768I missense 0.00001656●●●●●●
586. 237972246 c.14344A>G p.T4782A missense 0.00001656●●●●●●
587. 237798284 c.6784C>G p.L2262V missense 0.00001640●●●●●●
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589. 237863651 c.9251G>A p.R3084Q missense 0.00001603●●●●●●
590. 237774078 c.4700C>T p.S1567L missense 0.00001593●●●●●●
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592. 237798198 c.6698C>G p.A2233G missense 0.00001584●●●●●●
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596. 237875051 c.10237_10238delAA p.Glu3415ArgfsTer9 frameshift 0.00001561●●●●●●
597. 237713899 c.3122G>A p.R1041Q missense 0.00001554●●●●●●
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599. 237951330 c.13371G>T p.K4457N missense 0.00001520●●●●●●
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612. 237870536 c.9868A>T p.I3290F missense 0.00001386●●●●●●
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619. 237868599 c.9536A>G p.N3179S missense 0.00001340●●●●●●
620. 237666609 c.2417G>A p.G806E missense 0.00001338●●●●●●
621. 237948229 c.13217T>A p.M4406K missense 0.00001338●●●●●●
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630. 237868571 c.9508T>A p.F3170I missense 0.00001307●●●●●●
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670. 237843816 c.8956G>A p.A2986T missense 0.00001109●●●●●●
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680. 237951365 c.13406G>C p.R4469T missense 0.00001089●●●●●●
681. 237794719 c.6441-8C>T splice site 0.00001088●●●●●●
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683. 237872847 c.10210A>G p.I3404V missense 0.00001085●●●●●●
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687. 237961356 c.13976A>G p.E4659G missense 0.00001072●●●●●●
688. 237841372 c.8855A>G p.E2952G missense 0.00001071●●●●●●
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691. 237811854 c.7453C>T p.L2485F missense 0.00001069●●●●●●
692. 237951368 c.13409A>G p.Y4470C missense 0.00001068●●●●●●
693. 237811839 c.7438G>T p.V2480F missense 0.00001067●●●●●●
694. 237863735 c.9335T>C p.I3112T missense 0.00001064●●●●●●
695. 237863736 c.9336T>G p.I3112M missense 0.00001064●●●●●●
696. 237819196 c.8041A>T p.M2681L missense 0.00001057●●●●●●
697. 237872841 c.10204G>A p.V3402M missense 0.00001055●●●●●●
698. 237961365 c.13985G>T p.G4662V missense 0.00001051●●●●●●
699. 237804199 c.7118A>G p.D2373G missense 0.00001041●●●●●●
700. 237794724 c.6441-3T>C splice site 0.00001034●●●●●●
701. 237774128 c.4750C>T p.P1584S missense 0.00001033●●●●●●
702. 237774129 c.4751C>T p.P1584L missense 0.00001032●●●●●●
703. 237774274 c.4896C>G p.I1632M missense 0.00001027●●●●●●
704. 237955478 c.13637G>A p.S4546N missense 0.00001027●●●●●●
705. 237870507 c.9839T>C p.I3280T missense 0.00001024●●●●●●
706. 237961377 c.13997T>C p.I4666T missense 0.00001023●●●●●●
707. 237755152 c.4274C>T p.T1425M missense 0.00001021●●●●●●
708. 237819203 c.8048C>T p.S2683L missense 0.00001020●●●●●●
709. 237774131 c.4753C>T p.R1585C missense 0.00001019●●●●●●
710. 237872829 c.10192A>T p.M3398L missense 0.00001019●●●●●●
711. 237538033 c.401C>G p.S134C missense 0.00001019●●●●●●
712. 237872188 c.9932A>G p.K3311R missense 0.00001011●●●●●●
713. 237961388 c.14008C>G p.L4670V missense 0.00001011●●●●●●
714. 237872818 c.10181A>C p.E3394A missense 0.00001006●●●●●●
715. 237804204 c.7123G>A p.E2375K missense 0.00000997●●●●●●
716. 237948187 c.13175A>G p.K4392R missense 0.00000994●●●●●●
717. 237755146 c.4268C>T p.T1423M missense 0.00000990●●●●●●
718. 237961406 c.14026G>T p.A4676S missense 0.00000990●●●●●●
719. 237955482 c.13641delG p.Asp4548ThrfsTer14 frameshift 0.00000989●●●●●●
720. 237666627 c.2435A>G p.K812R missense 0.00000987●●●●●●
721. 237732626 c.3598+7_3598+9delCTA splice site 0.00000985●●●●●●
722. 237829861 c.8486G>A p.S2829N missense 0.00000978●●●●●●
723. 237670012 c.2616C>T p.I872I splice site 0.00000977●●●●●●
724. 237765418 c.4683+7A>T splice site 0.00000975●●●●●●
725. 237666629 c.2437T>G p.F813V missense 0.00000970●●●●●●
726. 237754300 c.4160+8A>G splice site 0.00000965●●●●●●
727. 237755141 c.4263G>A p.M1421I missense 0.00000965●●●●●●
728. 237829852 c.8477T>C p.I2826T missense 0.00000965●●●●●●
729. 237794846 c.6555+5C>A splice site 0.00000963●●●●●●
730. 237948181 c.13169A>G p.Q4390R missense 0.00000962●●●●●●
731. 237656327 c.1901A>G p.D634G missense 0.00000958●●●●●●
732. 237791160 c.6220G>T p.V2074F missense 0.00000958●●●●●●
733. 237755139 c.4261A>G p.M1421V missense 0.00000956●●●●●●
734. 237774147 c.4769T>A p.F1590Y missense 0.00000956●●●●●●
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1223. 237586483 c.940_942delCTT p.Leu316del inframe 0.00000829●●●●●●
1224. 237777663 c.5235_5236delAC p.His1746ArgfsTer26 frameshift 0.00000829●●●●●●
1225. 237550686 c.676+6A>G splice site 0.00000829●●●●●●
1226. 237817567 c.7825-7C>A splice site 0.00000829●●●●●●
1227. 237923159 c.11402+7A>T splice site 0.00000829●●●●●●
1228. 237982495 c.14590+3A>G splice site 0.00000829●●●●●●
1229. 237972271 c.14369G>A p.R4790Q missense 0.00000828●●●●●●
1230. 237659930 c.2081G>A p.R694Q missense 0.00000828●●●●●●
1231. 237664164 c.2357G>A p.G786D missense 0.00000828●●●●●●
1232. 237494244 c.235C>A p.Q79K missense 0.00000828●●●●●●
1233. 237550633 c.629C>T p.T210I missense 0.00000828●●●●●●
1234. 237659972 c.2123G>C p.G708A missense 0.00000828●●●●●●
1235. 237754129 c.3997G>A p.D1333N missense 0.00000828●●●●●●
1236. 237494235 c.226C>T p.R76W missense 0.00000828●●●●●●
1237. 237586422 c.879G>C p.Q293H missense 0.00000828●●●●●●
1238. 237659858 c.2009A>G p.Y670C missense 0.00000828●●●●●●
1239. 237664080 c.2273G>C p.C758S missense 0.00000828●●●●●●
1240. 237729918 c.3266G>A p.R1089H missense 0.00000828●●●●●●
1241. 237813361 c.7697G>T p.R2566L missense 0.00000828●●●●●●
1242. 237813363 c.7699G>T p.D2567Y missense 0.00000828●●●●●●
1243. 237993842 c.14668A>G p.I4890V missense 0.00000828●●●●●●
1244. 237806623 c.7222-4A>G splice site 0.00000828●●●●●●
1245. 237494205 c.196A>G p.T66A missense 0.00000828●●●●●●
1246. 237494211 c.202G>C p.V68L missense 0.00000828●●●●●●
1247. 237494212 c.203T>G p.V68G missense 0.00000828●●●●●●
1248. 237494226 c.217C>G p.L73V missense 0.00000828●●●●●●
1249. 237494263 c.254C>T p.T85I missense 0.00000828●●●●●●
1250. 237550627 c.623A>G p.Q208R missense 0.00000828●●●●●●
1251. 237550629 c.625C>G p.Q209E missense 0.00000828●●●●●●
1252. 237586427 c.884T>C p.F295S missense 0.00000828●●●●●●
1253. 237586436 c.893G>A p.R298H missense 0.00000828●●●●●●
1254. 237586440 c.897T>A p.H299Q missense 0.00000828●●●●●●
1255. 237659878 c.2029T>A p.L677M missense 0.00000828●●●●●●
1256. 237659950 c.2101G>C p.E701Q missense 0.00000828●●●●●●
1257. 237659974 c.2125G>T p.G709W missense 0.00000828●●●●●●
1258. 237660012 c.2163T>A p.D721E missense 0.00000828●●●●●●
1259. 237664107 c.2300C>T p.S767L missense 0.00000828●●●●●●
1260. 237664109 c.2302T>G p.F768V missense 0.00000828●●●●●●
1261. 237664113 c.2306G>A p.R769Q missense 0.00000828●●●●●●
1262. 237664127 c.2320C>A p.P774T missense 0.00000828●●●●●●
1263. 237664130 c.2323G>A p.V775I missense 0.00000828●●●●●●
1264. 237664141 c.2334G>C p.M778I missense 0.00000828●●●●●●
1265. 237664160 c.2353G>A p.D785N missense 0.00000828●●●●●●
1266. 237664181 c.2374G>A p.V792I missense 0.00000828●●●●●●
1267. 237666698 c.2506C>A p.H836N missense 0.00000828●●●●●●
1268. 237666705 c.2513G>A p.R838Q missense 0.00000828●●●●●●
1269. 237666734 c.2542C>T p.R848C missense 0.00000828●●●●●●
1270. 237666739 c.2547C>A p.D849E missense 0.00000828●●●●●●
1271. 237666749 c.2557C>T p.P853S missense 0.00000828●●●●●●
1272. 237666762 c.2570T>A p.L857Q missense 0.00000828●●●●●●
1273. 237729939 c.3287T>C p.V1096A missense 0.00000828●●●●●●
1274. 237729947 c.3295G>C p.G1099R missense 0.00000828●●●●●●
1275. 237729984 c.3332G>C p.G1111A missense 0.00000828●●●●●●
1276. 237730013 c.3361G>A p.G1121S missense 0.00000828●●●●●●
1277. 237754103 c.3971G>C p.G1324A missense 0.00000828●●●●●●
1278. 237754121 c.3989C>G p.P1330R missense 0.00000828●●●●●●
1279. 237754123 c.3991A>C p.K1331Q missense 0.00000828●●●●●●
1280. 237754135 c.4003G>A p.E1335K missense 0.00000828●●●●●●
1281. 237777706 c.5278C>G p.R1760G missense 0.00000828●●●●●●
1282. 237777707 c.5279G>A p.R1760Q missense 0.00000828●●●●●●
1283. 237777713 c.5285A>C p.Q1762P missense 0.00000828●●●●●●
1284. 237777727 c.5299A>G p.S1767G missense 0.00000828●●●●●●
1285. 237777730 c.5302T>C p.F1768L missense 0.00000828●●●●●●
1286. 237777733 c.5305G>T p.V1769L missense 0.00000828●●●●●●
1287. 237777764 c.5336G>A p.S1779N missense 0.00000828●●●●●●
1288. 237777785 c.5357T>C p.I1786T missense 0.00000828●●●●●●
1289. 237788994 c.6056G>A p.G2019E missense 0.00000828●●●●●●
1290. 237789015 c.6077G>C p.R2026T missense 0.00000828●●●●●●
1291. 237796884 c.6562A>C p.T2188P missense 0.00000828●●●●●●
1292. 237796885 c.6563C>G p.T2188S missense 0.00000828●●●●●●
1293. 237801675 c.6811G>A p.G2271S missense 0.00000828●●●●●●
1294. 237801727 c.6863T>C p.I2288T missense 0.00000828●●●●●●
1295. 237801748 c.6884G>A p.G2295E missense 0.00000828●●●●●●
1296. 237801787 c.6923G>C p.C2308S missense 0.00000828●●●●●●
1297. 237806687 c.7282C>T p.P2428S missense 0.00000828●●●●●●
1298. 237806687 c.7282C>G p.P2428A missense 0.00000828●●●●●●
1299. 237806717 c.7312A>C p.I2438L missense 0.00000828●●●●●●
1300. 237813210 c.7546C>T p.L2516F missense 0.00000828●●●●●●
1301. 237813216 c.7552C>T p.R2518W missense 0.00000828●●●●●●
1302. 237813223 c.7559T>C p.L2520P missense 0.00000828●●●●●●
1303. 237813228 c.7564A>C p.T2522P missense 0.00000828●●●●●●
1304. 237813238 c.7574T>C p.L2525S missense 0.00000828●●●●●●
1305. 237813276 c.7612A>G p.T2538A missense 0.00000828●●●●●●
1306. 237813292 c.7628C>T p.S2543F missense 0.00000828●●●●●●
1307. 237813298 c.7634T>C p.I2545T missense 0.00000828●●●●●●
1308. 237813318 c.7654G>A p.V2552M missense 0.00000828●●●●●●
1309. 237813355 c.7691C>T p.A2564V missense 0.00000828●●●●●●
1310. 237813361 c.7697G>C p.R2566P missense 0.00000828●●●●●●
1311. 237813361 c.7697G>A p.R2566Q missense 0.00000828●●●●●●
1312. 237813363 c.7699G>A p.D2567N missense 0.00000828●●●●●●
1313. 237813370 c.7706T>C p.I2569T missense 0.00000828●●●●●●
1314. 237813378 c.7714T>G p.C2572G missense 0.00000828●●●●●●
1315. 237870347 c.9679C>T p.R3227C missense 0.00000828●●●●●●
1316. 237870348 c.9680G>A p.R3227H missense 0.00000828●●●●●●
1317. 237870361 c.9693G>A p.M3231I missense 0.00000828●●●●●●
1318. 237870371 c.9703A>G p.M3235V missense 0.00000828●●●●●●
1319. 237886504 c.10631C>T p.P3544L missense 0.00000828●●●●●●
1320. 237886513 c.10640C>G p.T3547R missense 0.00000828●●●●●●
1321. 237923098 c.11348A>T p.E3783V missense 0.00000828●●●●●●
1322. 237923112 c.11362G>A p.G3788S missense 0.00000828●●●●●●
1323. 237947550 c.12538G>C p.G4180R missense 0.00000828●●●●●●
1324. 237947592 c.12580G>A p.E4194K missense 0.00000828●●●●●●
1325. 237969533 c.14248T>C p.F4750L missense 0.00000828●●●●●●
1326. 237972306 c.14404C>T p.P4802S missense 0.00000828●●●●●●
1327. 237972324 c.14422G>A p.D4808N missense 0.00000828●●●●●●
1328. 237982415 c.14513A>G p.E4838G missense 0.00000828●●●●●●
1329. 237982465 c.14563A>G p.I4855V missense 0.00000828●●●●●●
1330. 237993852 c.14678T>C p.I4893T missense 0.00000828●●●●●●
1331. 237993862 c.14688T>A p.D4896E missense 0.00000828●●●●●●
1332. 237729924 c.3272_3274delAGA p.Lys1092del inframe 0.00000828●●●●●●
1333. 237550574 c.577-7G>A splice site 0.00000828●●●●●●
1334. 237730078 c.3423+3G>A splice site 0.00000828●●●●●●
1335. 237730083 c.3423+8G>A splice site 0.00000828●●●●●●
1336. 237796873 c.6556-5T>C splice site 0.00000828●●●●●●
1337. 237801653 c.6793-4G>T splice site 0.00000828●●●●●●
1338. 237806746 c.7341A>G splice site 0.00000828●●●●●●
1339. 237806751 c.7342+4A>T splice site 0.00000828●●●●●●
1340. 237972340 c.14433+5G>C splice site 0.00000828●●●●●●
1341. 237993832 c.14658C>G splice site 0.00000828●●●●●●

* 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.