RYR2 missense variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 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. 237841390 c.8873A>G p.Q2958R missense 0.25333096●●●●●●
2. 237778084 c.5656G>A p.G1886S missense 0.04384803●●●●●●
3. 237755076 c.4198A>G p.S1400G missense 0.01824471●●●●●●
4. 237778082 c.5654G>A p.G1885E missense 0.01540311●●●●●●
5. 237730059 c.3407C>T p.A1136V missense 0.00706336●●●●●●
6. 237619942 c.1519G>A p.V507I missense 0.00419575●●●●●●
7. 237730032 c.3380A>G p.E1127G missense 0.00112611●●●●●●
8. 237670026 c.2630A>C p.H877P missense 0.00079605●●●●●●
9. 237821276 c.8162T>C p.I2721T missense 0.00057431●●●●●●
10. 237868623 c.9560A>G p.K3187R missense 0.00055332●●●●●●
11. 237711862 c.3038G>A p.R1013Q missense 0.00045710●●●●●●
12. 237778108 c.5680C>A p.L1894I missense 0.00044471●●●●●●
13. 237791277 c.6337G>A p.V2113M missense 0.00043210●●●●●●
14. 237949299 c.13291G>A p.E4431K missense 0.00040787●●●●●●
15. 237872179 c.9923A>G p.N3308S missense 0.00036049●●●●●●
16. 237765380 c.4652A>G p.N1551S missense 0.00035087●●●●●●
17. 237604635 c.1022G>C p.G341A missense 0.00034805●●●●●●
18. 237729972 c.3320C>T p.T1107M missense 0.00032295●●●●●●
19. 237754226 c.4094C>T p.A1365V missense 0.00031542●●●●●●
20. 237965166 c.14101A>G p.I4701V missense 0.00026795●●●●●●
21. 237870488 c.9820A>G p.N3274D missense 0.00026389●●●●●●
22. 237604748 c.1135G>A p.V379M missense 0.00025829●●●●●●
23. 237774071 c.4693C>G p.P1565A missense 0.00025438●●●●●●
24. 237675024 c.2755G>A p.V919M missense 0.00025134●●●●●●
25. 237753215 c.3721G>A p.V1241I missense 0.00024890●●●●●●
26. 237811896 c.7495G>A p.A2499T missense 0.00024501●●●●●●
27. 237666602 c.2410C>T p.L804F missense 0.00023095●●●●●●
28. 237693732 c.2828T>C p.L943S missense 0.00022953●●●●●●
29. 237948081 c.13069G>A p.A4357T missense 0.00022763●●●●●●
30. 237947931 c.12919C>T p.R4307C missense 0.00022382●●●●●●
31. 237729882 c.3230T>C p.V1077A missense 0.00020915●●●●●●
32. 237955513 c.13672C>T p.H4558Y missense 0.00020481●●●●●●
33. 237758806 c.4445G>A p.R1482H missense 0.00019939●●●●●●
34. 237664074 c.2267G>A p.S756N missense 0.00019884●●●●●●
35. 237838114 c.8798T>G p.V2933G missense 0.00018057●●●●●●
36. 237730008 c.3356G>A p.R1119H missense 0.00017389●●●●●●
37. 237655219 c.1822C>T p.H608Y missense 0.00017285●●●●●●
38. 237802485 c.7099G>A p.G2367R missense 0.00017098●●●●●●
39. 237778042 c.5614G>A p.D1872N missense 0.00016728●●●●●●
40. 237870269 c.9601G>A p.V3201M missense 0.00016721●●●●●●
41. 237656365 c.1939C>T p.R647C missense 0.00016657●●●●●●
42. 237758826 c.4465T>C p.C1489R missense 0.00016598●●●●●●
43. 237777722 c.5294C>G p.S1765C missense 0.00016565●●●●●●
44. 237713928 c.3151C>T p.R1051C missense 0.00016511●●●●●●
45. 237711759 c.2935G>T p.A979S missense 0.00016122●●●●●●
46. 237889583 c.10700G>A p.R3567H missense 0.00015256●●●●●●
47. 237729903 c.3251G>A p.R1084K missense 0.00014926●●●●●●
48. 237608773 c.1243A>G p.T415A missense 0.00014921●●●●●●
49. 237586469 c.926T>C p.M309T missense 0.00014909●●●●●●
50. 237205840 c.19G>A p.G7S missense 0.00014273●●●●●●
51. 237550653 c.649A>G p.I217V missense 0.00014078●●●●●●
52. 237813283 c.7619A>G p.H2540R missense 0.00014076●●●●●●
53. 237880555 c.10381A>G p.M3461V missense 0.00013671●●●●●●
54. 237619934 c.1511G>A p.R504H missense 0.00012476●●●●●●
55. 237655186 c.1789A>G p.I597V missense 0.00012414●●●●●●
56. 237829824 c.8449G>A p.A2817T missense 0.00012132●●●●●●
57. 237732616 c.3595G>A p.D1199N missense 0.00012074●●●●●●
58. 237670107 c.2711A>G p.Y904C missense 0.00012042●●●●●●
59. 237791373 c.6433G>C p.G2145R missense 0.00011754●●●●●●
60. 237617794 c.1396C>G p.P466A missense 0.00011639●●●●●●
61. 237788984 c.6046T>A p.S2016T missense 0.00011603●●●●●●
62. 237811894 c.7493C>T p.A2498V missense 0.00011592●●●●●●
63. 237814784 c.7807G>A p.A2603T missense 0.00011459●●●●●●
64. 237586541 c.998C>T p.S333F missense 0.00011109●●●●●●
65. 237780626 c.5756G>A p.R1919Q missense 0.00010878●●●●●●
66. 237670025 c.2629C>T p.H877Y missense 0.00010775●●●●●●
67. 237586435 c.892C>T p.R298C missense 0.00010767●●●●●●
68. 237947059 c.12047T>A p.F4016Y missense 0.00010211●●●●●●
69. 237863590 c.9190G>A p.A3064T missense 0.00010122●●●●●●
70. 237955468 c.13627A>G p.K4543E missense 0.00010017●●●●●●
71. 237947553 c.12541G>A p.G4181R missense 0.00009938●●●●●●
72. 237433824 c.76G>A p.A26T missense 0.00009908●●●●●●
73. 237947118 c.12106G>A p.D4036N missense 0.00009481●●●●●●
74. 237947854 c.12842C>T p.T4281M missense 0.00009195●●●●●●
75. 237604757 c.1144G>A p.V382M missense 0.00009186●●●●●●
76. 237824218 c.8407C>T p.R2803W missense 0.00009179●●●●●●
77. 237619984 c.1561G>A p.E521K missense 0.00009123●●●●●●
78. 237713929 c.3152G>A p.R1051H missense 0.00008803●●●●●●
79. 237617852 c.1454G>A p.R485Q missense 0.00008645●●●●●●
80. 237774070 c.4692G>A p.M1564I missense 0.00008584●●●●●●
81. 237811912 c.7511C>T p.T2504M missense 0.00008563●●●●●●
82. 237817674 c.7925G>A p.R2642K missense 0.00008334●●●●●●
83. 237777856 c.5428G>C p.V1810L missense 0.00008297●●●●●●
84. 237948232 c.13220G>A p.S4407N missense 0.00008269●●●●●●
85. 237955441 c.13600C>T p.P4534S missense 0.00007994●●●●●●
86. 237961337 c.13957G>A p.V4653I missense 0.00007794●●●●●●
87. 237787071 c.5923A>G p.M1975V missense 0.00007522●●●●●●
88. 237870323 c.9655G>A p.V3219M missense 0.00007462●●●●●●
89. 237532877 c.353C>T p.A118V missense 0.00007329●●●●●●
90. 237670038 c.2642T>G p.I881R missense 0.00006953●●●●●●
91. 237905624 c.11120G>C p.G3707A missense 0.00006795●●●●●●
92. 237780663 c.5793T>G p.D1931E missense 0.00006698●●●●●●
93. 237802446 c.7060G>A p.A2354T missense 0.00006692●●●●●●
94. 237774113 c.4735G>A p.V1579M missense 0.00006690●●●●●●
95. 237617756 c.1358G>C p.S453T missense 0.00006642●●●●●●
96. 237754201 c.4069G>C p.D1357H missense 0.00006633●●●●●●
97. 237730050 c.3398G>A p.R1133H missense 0.00006625●●●●●●
98. 237924275 c.11423T>A p.F3808Y missense 0.00006560●●●●●●
99. 237889591 c.10708C>T p.R3570W missense 0.00006211●●●●●●
100. 237843796 c.8936G>A p.R2979H missense 0.00006102●●●●●●
101. 237754015 c.3883A>G p.S1295G missense 0.00006095●●●●●●
102. 237755151 c.4273A>G p.T1425A missense 0.00006081●●●●●●
103. 237802462 c.7076G>A p.R2359Q missense 0.00005874●●●●●●
104. 237870447 c.9779G>A p.R3260Q missense 0.00005817●●●●●●
105. 237617752 c.1354G>A p.V452I missense 0.00005813●●●●●●
106. 237711849 c.3025C>T p.R1009W missense 0.00005810●●●●●●
107. 237664196 c.2389G>A p.G797R missense 0.00005801●●●●●●
108. 237870335 c.9667G>A p.E3223K missense 0.00005801●●●●●●
109. 237923148 c.11398T>A p.C3800S missense 0.00005800●●●●●●
110. 237870359 c.9691A>G p.M3231V missense 0.00005798●●●●●●
111. 237954780 c.13528G>A p.A4510T missense 0.00005747●●●●●●
112. 237755067 c.4189T>A p.Y1397N missense 0.00005619●●●●●●
113. 237666594 c.2402G>T p.R801L missense 0.00005509●●●●●●
114. 237774218 c.4840C>T p.R1614C missense 0.00005407●●●●●●
115. 237755119 c.4241G>A p.R1414Q missense 0.00005403●●●●●●
116. 237811860 c.7459C>A p.L2487I missense 0.00005355●●●●●●
117. 237875072 c.10258G>A p.V3420I missense 0.00005127●●●●●●
118. 237947779 c.12767T>C p.M4256T missense 0.00005078●●●●●●
119. 237829825 c.8450C>T p.A2817V missense 0.00005021●●●●●●
120. 237843793 c.8933A>T p.H2978L missense 0.00005018●●●●●●
121. 237777998 c.5570C>T p.P1857L missense 0.00004999●●●●●●
122. 237617790 c.1392C>A p.H464Q missense 0.00004988●●●●●●
123. 237791260 c.6320C>T p.T2107M missense 0.00004983●●●●●●
124. 237756888 c.4388G>A p.R1463H missense 0.00004975●●●●●●
125. 237670011 c.2615T>C p.I872T missense 0.00004932●●●●●●
126. 237872202 c.9946A>G p.K3316E missense 0.00004882●●●●●●
127. 237824245 c.8434C>G p.Q2812E missense 0.00004746●●●●●●
128. 237841393 c.8876A>C p.E2959A missense 0.00004721●●●●●●
129. 237824219 c.8408G>A p.R2803Q missense 0.00004589●●●●●●
130. 237824125 c.8314C>T p.R2772C missense 0.00004557●●●●●●
131. 237824189 c.8378G>A p.R2793Q missense 0.00004512●●●●●●
132. 237824153 c.8342C>T p.T2781I missense 0.00004510●●●●●●
133. 237433891 c.143T>C p.F48S missense 0.00004480●●●●●●
134. 237821259 c.8145G>T p.E2715D missense 0.00004472●●●●●●
135. 237821261 c.8147A>T p.K2716I missense 0.00004467●●●●●●
136. 237934127 c.11497G>A p.D3833N missense 0.00004450●●●●●●
137. 237821272 c.8158T>C p.F2720L missense 0.00004430●●●●●●
138. 237889582 c.10699C>T p.R3567C missense 0.00004405●●●●●●
139. 237666641 c.2449C>G p.P817A missense 0.00004403●●●●●●
140. 237711733 c.2909A>G p.Y970C missense 0.00004380●●●●●●
141. 237947103 c.12091A>G p.T4031A missense 0.00004370●●●●●●
142. 237814727 c.7750A>G p.M2584V missense 0.00004279●●●●●●
143. 237947812 c.12800A>G p.Q4267R missense 0.00004228●●●●●●
144. 237947838 c.12826G>A p.V4276M missense 0.00004202●●●●●●
145. 237540715 c.556G>A p.V186M missense 0.00004184●●●●●●
146. 237617702 c.1304C>T p.A435V missense 0.00004181●●●●●●
147. 237881784 c.10517G>A p.R3506Q missense 0.00004174●●●●●●
148. 237791220 c.6280G>A p.G2094S missense 0.00004161●●●●●●
149. 237791286 c.6346A>G p.T2116A missense 0.00004156●●●●●●
150. 237870446 c.9778C>T p.R3260W missense 0.00004153●●●●●●
151. 237754228 c.4096A>G p.T1366A missense 0.00004151●●●●●●
152. 237632454 c.1675A>G p.I559V missense 0.00004151●●●●●●
153. 237886553 c.10680T>A p.H3560Q missense 0.00004150●●●●●●
154. 237947416 c.12404G>A p.R4135H missense 0.00004146●●●●●●
155. 237659822 c.1973A>G p.N658S missense 0.00004144●●●●●●
156. 237870337 c.9669G>C p.E3223D missense 0.00004143●●●●●●
157. 237947439 c.12427A>C p.K4143Q missense 0.00004143●●●●●●
158. 237664082 c.2275T>A p.L759I missense 0.00004142●●●●●●
159. 237666765 c.2573C>T p.T858M missense 0.00004142●●●●●●
160. 237659836 c.1987G>A p.V663I missense 0.00004142●●●●●●
161. 237777722 c.5294C>T p.S1765F missense 0.00004141●●●●●●
162. 237806639 c.7234G>A p.G2412R missense 0.00004141●●●●●●
163. 237659953 c.2104G>A p.G702R missense 0.00004140●●●●●●
164. 237868632 c.9569G>A p.R3190Q missense 0.00004084●●●●●●
165. 237819152 c.7997T>A p.L2666Q missense 0.00004076●●●●●●
166. 237872827 c.10190G>T p.R3397L missense 0.00004056●●●●●●
167. 237863530 c.9130A>T p.T3044S missense 0.00003971●●●●●●
168. 237780587 c.5717T>C p.M1906T missense 0.00003954●●●●●●
169. 237951310 c.13351G>A p.E4451K missense 0.00003937●●●●●●
170. 237905607 c.11103T>A p.D3701E missense 0.00003736●●●●●●
171. 237862282 c.9085A>G p.I3029V missense 0.00003710●●●●●●
172. 237823324 c.8248T>A p.S2750T missense 0.00003709●●●●●●
173. 237823338 c.8262G>C p.Q2754H missense 0.00003708●●●●●●
174. 237532864 c.340C>G p.L114V missense 0.00003701●●●●●●
175. 237875080 c.10266G>C p.Q3422H missense 0.00003682●●●●●●
176. 237780632 c.5762G>A p.R1921Q missense 0.00003537●●●●●●
177. 237872251 c.9995C>T p.T3332M missense 0.00003525●●●●●●
178. 237838057 c.8741C>T p.T2914M missense 0.00003483●●●●●●
179. 237670038 c.2642T>A p.I881K missense 0.00003476●●●●●●
180. 237780644 c.5774T>C p.I1925T missense 0.00003432●●●●●●
181. 237604778 c.1165C>T p.R389C missense 0.00003396●●●●●●
182. 237774111 c.4733C>G p.P1578R missense 0.00003389●●●●●●
183. 237729878 c.3226G>A p.E1076K missense 0.00003359●●●●●●
184. 237881795 c.10528C>A p.R3510S missense 0.00003342●●●●●●
185. 237881790 c.10523T>C p.I3508T missense 0.00003340●●●●●●
186. 237778016 c.5588C>T p.T1863M missense 0.00003336●●●●●●
187. 237787081 c.5933A>G p.N1978S missense 0.00003330●●●●●●
188. 237924272 c.11420C>T p.A3807V missense 0.00003329●●●●●●
189. 237580390 c.815G>T p.R272L missense 0.00003328●●●●●●
190. 237870287 c.9619A>G p.N3207D missense 0.00003325●●●●●●
191. 237777937 c.5509G>A p.E1837K missense 0.00003324●●●●●●
192. 237777922 c.5494G>A p.G1832S missense 0.00003324●●●●●●
193. 237895385 c.10975A>G p.K3659E missense 0.00003321●●●●●●
194. 237777400 c.4972C>T p.L1658F missense 0.00003321●●●●●●
195. 237780695 c.5825T>G p.F1942C missense 0.00003320●●●●●●
196. 237586493 c.950T>C p.M317T missense 0.00003317●●●●●●
197. 237777484 c.5056C>T p.L1686F missense 0.00003315●●●●●●
198. 237777682 c.5254G>A p.G1752S missense 0.00003315●●●●●●
199. 237886513 c.10640C>T p.T3547M missense 0.00003313●●●●●●
200. 237831250 c.8582A>G p.E2861G missense 0.00003313●●●●●●
201. 237801664 c.6800G>A p.R2267H missense 0.00003313●●●●●●
202. 237729951 c.3299G>A p.R1100Q missense 0.00003312●●●●●●
203. 237659894 c.2045C>G p.T682R missense 0.00003312●●●●●●
204. 237729947 c.3295G>A p.G1099R missense 0.00003312●●●●●●
205. 237813288 c.7624G>A p.A2542T missense 0.00003312●●●●●●
206. 237863738 c.9338G>A p.G3113D missense 0.00003229●●●●●●
207. 237831245 c.8577G>C p.E2859D missense 0.00003190●●●●●●
208. 237433797 c.49G>A p.D17N missense 0.00003108●●●●●●
209. 237675030 c.2761T>A p.F921I missense 0.00003076●●●●●●
210. 237924314 c.11462C>T p.T3821I missense 0.00003052●●●●●●
211. 237872826 c.10189C>T p.R3397C missense 0.00003044●●●●●●
212. 237798272 c.6772C>T p.R2258C missense 0.00003041●●●●●●
213. 237713893 c.3116A>T p.D1039V missense 0.00002987●●●●●●
214. 237831220 c.8552T>C p.I2851T missense 0.00002979●●●●●●
215. 237870542 c.9874G>A p.E3292K missense 0.00002965●●●●●●
216. 237713953 c.3176G>A p.G1059E missense 0.00002965●●●●●●
217. 237819215 c.8060G>A p.S2687N missense 0.00002900●●●●●●
218. 237823304 c.8228A>G p.Y2743C missense 0.00002860●●●●●●
219. 237823345 c.8269A>G p.M2757V missense 0.00002814●●●●●●
220. 237951338 c.13379A>G p.Q4460R missense 0.00002766●●●●●●
221. 237863581 c.9181C>G p.L3061V missense 0.00002723●●●●●●
222. 237791172 c.6232C>T p.P2078S missense 0.00002723●●●●●●
223. 237713946 c.3169C>A p.L1057M missense 0.00002678●●●●●●
224. 237868585 c.9522T>A p.H3174Q missense 0.00002658●●●●●●
225. 237863585 c.9185A>G p.D3062G missense 0.00002632●●●●●●
226. 237713944 c.3167C>T p.T1056M missense 0.00002620●●●●●●
227. 237947104 c.12092C>A p.T4031N missense 0.00002619●●●●●●
228. 237955507 c.13666G>A p.A4556T missense 0.00002601●●●●●●
229. 237656263 c.1837G>A p.V613I missense 0.00002601●●●●●●
230. 237754277 c.4145C>G p.S1382C missense 0.00002595●●●●●●
231. 237947244 c.12232C>A p.L4078I missense 0.00002568●●●●●●
232. 237713941 c.3164G>A p.R1055H missense 0.00002566●●●●●●
233. 237947253 c.12241G>A p.E4081K missense 0.00002565●●●●●●
234. 237947256 c.12244G>A p.E4082K missense 0.00002562●●●●●●
235. 237604779 c.1166G>A p.R389H missense 0.00002556●●●●●●
236. 237995918 c.14875C>T p.R4959W missense 0.00002551●●●●●●
237. 237947764 c.12752A>G p.N4251S missense 0.00002535●●●●●●
238. 237787065 c.5917A>G p.I1973V missense 0.00002518●●●●●●
239. 237947849 c.12837G>A p.M4279I missense 0.00002511●●●●●●
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966. 237754204 c.4072C>T p.R1358C missense 0.00000829●●●●●●
967. 237777838 c.5410C>T p.L1804F missense 0.00000829●●●●●●
968. 237777604 c.5176A>G p.I1726V missense 0.00000829●●●●●●
969. 237586492 c.949A>G p.M317V missense 0.00000829●●●●●●
970. 237777494 c.5066T>C p.I1689T missense 0.00000829●●●●●●
971. 237947415 c.12403C>T p.R4135C missense 0.00000829●●●●●●
972. 237753171 c.3677A>G p.Y1226C missense 0.00000829●●●●●●
973. 237494280 c.271G>C p.G91R missense 0.00000829●●●●●●
974. 237664067 c.2260G>T p.V754F missense 0.00000829●●●●●●
975. 237947913 c.12901G>C p.V4301L missense 0.00000829●●●●●●
976. 237870341 c.9673G>A p.G3225S missense 0.00000829●●●●●●
977. 237777653 c.5225A>G p.E1742G missense 0.00000829●●●●●●
978. 237796978 c.6656G>A p.S2219N missense 0.00000829●●●●●●
979. 237777582 c.5154G>T p.R1718S missense 0.00000829●●●●●●
980. 237753190 c.3696A>T p.L1232F missense 0.00000829●●●●●●
981. 237777553 c.5125A>C p.I1709L missense 0.00000829●●●●●●
982. 237837462 c.8657G>C p.R2886T missense 0.00000829●●●●●●
983. 237604705 c.1092A>C p.Q364H missense 0.00000829●●●●●●
984. 237756840 c.4340C>T p.T1447I missense 0.00000829●●●●●●
985. 237813195 c.7531G>A p.D2511N missense 0.00000829●●●●●●
986. 237753198 c.3704G>A p.G1235D missense 0.00000829●●●●●●
987. 237620009 c.1586T>C p.I529T missense 0.00000829●●●●●●
988. 237982395 c.14493C>G p.I4831M missense 0.00000829●●●●●●
989. 237777844 c.5416G>A p.A1806T missense 0.00000829●●●●●●
990. 237777835 c.5407A>T p.S1803C missense 0.00000829●●●●●●
991. 237777733 c.5305G>T p.V1769L missense 0.00000828●●●●●●
992. 237659950 c.2101G>C p.E701Q missense 0.00000828●●●●●●
993. 237886504 c.10631C>T p.P3544L missense 0.00000828●●●●●●
994. 237550633 c.629C>T p.T210I missense 0.00000828●●●●●●
995. 237659930 c.2081G>A p.R694Q missense 0.00000828●●●●●●
996. 237801727 c.6863T>C p.I2288T missense 0.00000828●●●●●●
997. 237813223 c.7559T>C p.L2520P missense 0.00000828●●●●●●
998. 237993862 c.14688T>A p.D4896E missense 0.00000828●●●●●●
999. 237664080 c.2273G>C p.C758S missense 0.00000828●●●●●●
1000. 237754129 c.3997G>A p.D1333N missense 0.00000828●●●●●●
1001. 237664130 c.2323G>A p.V775I missense 0.00000828●●●●●●
1002. 237969533 c.14248T>C p.F4750L missense 0.00000828●●●●●●
1003. 237664160 c.2353G>A p.D785N missense 0.00000828●●●●●●
1004. 237813361 c.7697G>T p.R2566L missense 0.00000828●●●●●●
1005. 237550627 c.623A>G p.Q208R missense 0.00000828●●●●●●
1006. 237729939 c.3287T>C p.V1096A missense 0.00000828●●●●●●
1007. 237870361 c.9693G>A p.M3231I missense 0.00000828●●●●●●
1008. 237659878 c.2029T>A p.L677M missense 0.00000828●●●●●●
1009. 237777706 c.5278C>G p.R1760G missense 0.00000828●●●●●●
1010. 237494226 c.217C>G p.L73V missense 0.00000828●●●●●●
1011. 237923112 c.11362G>A p.G3788S missense 0.00000828●●●●●●
1012. 237666734 c.2542C>T p.R848C missense 0.00000828●●●●●●
1013. 237813298 c.7634T>C p.I2545T missense 0.00000828●●●●●●
1014. 237982415 c.14513A>G p.E4838G missense 0.00000828●●●●●●
1015. 237586440 c.897T>A p.H299Q missense 0.00000828●●●●●●
1016. 237806717 c.7312A>C p.I2438L missense 0.00000828●●●●●●
1017. 237664109 c.2302T>G p.F768V missense 0.00000828●●●●●●
1018. 237806687 c.7282C>T p.P2428S missense 0.00000828●●●●●●
1019. 237777764 c.5336G>A p.S1779N missense 0.00000828●●●●●●
1020. 237886513 c.10640C>G p.T3547R missense 0.00000828●●●●●●
1021. 237777727 c.5299A>G p.S1767G missense 0.00000828●●●●●●
1022. 237754121 c.3989C>G p.P1330R missense 0.00000828●●●●●●
1023. 237729984 c.3332G>C p.G1111A missense 0.00000828●●●●●●
1024. 237494205 c.196A>G p.T66A missense 0.00000828●●●●●●
1025. 237813370 c.7706T>C p.I2569T missense 0.00000828●●●●●●
1026. 237666762 c.2570T>A p.L857Q missense 0.00000828●●●●●●
1027. 237664164 c.2357G>A p.G786D missense 0.00000828●●●●●●
1028. 237813361 c.7697G>C p.R2566P missense 0.00000828●●●●●●
1029. 237801748 c.6884G>A p.G2295E missense 0.00000828●●●●●●
1030. 237813228 c.7564A>C p.T2522P missense 0.00000828●●●●●●
1031. 237796884 c.6562A>C p.T2188P missense 0.00000828●●●●●●
1032. 237947550 c.12538G>C p.G4180R missense 0.00000828●●●●●●
1033. 237972306 c.14404C>T p.P4802S missense 0.00000828●●●●●●
1034. 237664141 c.2334G>C p.M778I missense 0.00000828●●●●●●
1035. 237586422 c.879G>C p.Q293H missense 0.00000828●●●●●●
1036. 237550629 c.625C>G p.Q209E missense 0.00000828●●●●●●
1037. 237813363 c.7699G>T p.D2567Y missense 0.00000828●●●●●●
1038. 237494263 c.254C>T p.T85I missense 0.00000828●●●●●●
1039. 237659974 c.2125G>T p.G709W missense 0.00000828●●●●●●
1040. 237870371 c.9703A>G p.M3235V missense 0.00000828●●●●●●
1041. 237788994 c.6056G>A p.G2019E missense 0.00000828●●●●●●
1042. 237777707 c.5279G>A p.R1760Q missense 0.00000828●●●●●●
1043. 237813318 c.7654G>A p.V2552M missense 0.00000828●●●●●●
1044. 237666698 c.2506C>A p.H836N missense 0.00000828●●●●●●
1045. 237993842 c.14668A>G p.I4890V missense 0.00000828●●●●●●
1046. 237666739 c.2547C>A p.D849E missense 0.00000828●●●●●●
1047. 237982465 c.14563A>G p.I4855V missense 0.00000828●●●●●●
1048. 237586427 c.884T>C p.F295S missense 0.00000828●●●●●●
1049. 237659858 c.2009A>G p.Y670C missense 0.00000828●●●●●●
1050. 237813210 c.7546C>T p.L2516F missense 0.00000828●●●●●●
1051. 237494235 c.226C>T p.R76W missense 0.00000828●●●●●●
1052. 237659972 c.2123G>C p.G708A missense 0.00000828●●●●●●
1053. 237664113 c.2306G>A p.R769Q missense 0.00000828●●●●●●
1054. 237806687 c.7282C>G p.P2428A missense 0.00000828●●●●●●
1055. 237730013 c.3361G>A p.G1121S missense 0.00000828●●●●●●
1056. 237777785 c.5357T>C p.I1786T missense 0.00000828●●●●●●
1057. 237777730 c.5302T>C p.F1768L missense 0.00000828●●●●●●
1058. 237754123 c.3991A>C p.K1331Q missense 0.00000828●●●●●●
1059. 237813361 c.7697G>A p.R2566Q missense 0.00000828●●●●●●
1060. 237801787 c.6923G>C p.C2308S missense 0.00000828●●●●●●
1061. 237494211 c.202G>C p.V68L missense 0.00000828●●●●●●
1062. 237870347 c.9679C>T p.R3227C missense 0.00000828●●●●●●
1063. 237813378 c.7714T>G p.C2572G missense 0.00000828●●●●●●
1064. 237729918 c.3266G>A p.R1089H missense 0.00000828●●●●●●
1065. 237813238 c.7574T>C p.L2525S missense 0.00000828●●●●●●
1066. 237796885 c.6563C>G p.T2188S missense 0.00000828●●●●●●
1067. 237664181 c.2374G>A p.V792I missense 0.00000828●●●●●●
1068. 237972324 c.14422G>A p.D4808N missense 0.00000828●●●●●●
1069. 237777713 c.5285A>C p.Q1762P missense 0.00000828●●●●●●
1070. 237754103 c.3971G>C p.G1324A missense 0.00000828●●●●●●
1071. 237729947 c.3295G>C p.G1099R missense 0.00000828●●●●●●
1072. 237660012 c.2163T>A p.D721E missense 0.00000828●●●●●●
1073. 237494244 c.235C>A p.Q79K missense 0.00000828●●●●●●
1074. 237789015 c.6077G>C p.R2026T missense 0.00000828●●●●●●
1075. 237666749 c.2557C>T p.P853S missense 0.00000828●●●●●●
1076. 237813355 c.7691C>T p.A2564V missense 0.00000828●●●●●●
1077. 237801675 c.6811G>A p.G2271S missense 0.00000828●●●●●●
1078. 237666705 c.2513G>A p.R838Q missense 0.00000828●●●●●●
1079. 237813216 c.7552C>T p.R2518W missense 0.00000828●●●●●●
1080. 237993852 c.14678T>C p.I4893T missense 0.00000828●●●●●●
1081. 237664127 c.2320C>A p.P774T missense 0.00000828●●●●●●
1082. 237754135 c.4003G>A p.E1335K missense 0.00000828●●●●●●
1083. 237813363 c.7699G>A p.D2567N missense 0.00000828●●●●●●
1084. 237494212 c.203T>G p.V68G missense 0.00000828●●●●●●
1085. 237870348 c.9680G>A p.R3227H missense 0.00000828●●●●●●
1086. 237947592 c.12580G>A p.E4194K missense 0.00000828●●●●●●
1087. 237923098 c.11348A>T p.E3783V missense 0.00000828●●●●●●
1088. 237813292 c.7628C>T p.S2543F missense 0.00000828●●●●●●
1089. 237972271 c.14369G>A p.R4790Q missense 0.00000828●●●●●●
1090. 237813276 c.7612A>G p.T2538A missense 0.00000828●●●●●●
1091. 237586436 c.893G>A p.R298H missense 0.00000828●●●●●●
1092. 237664107 c.2300C>T p.S767L missense 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.