RYR2 protein-altering variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 237947553 c.12541G>A p.G4181R missense 0.00009938●●●●●●
2. 237433824 c.76G>A p.A26T missense 0.00009908●●●●●●
3. 237969494 c.14209dupT p.Ala4740CysfsTer56 frameshift 0.00009655●●●●●●
4. 237947118 c.12106G>A p.D4036N missense 0.00009481●●●●●●
5. 237947854 c.12842C>T p.T4281M missense 0.00009195●●●●●●
6. 237604757 c.1144G>A p.V382M missense 0.00009186●●●●●●
7. 237824218 c.8407C>T p.R2803W missense 0.00009179●●●●●●
8. 237947677 c.12665_12667delAGA p.Lys4223del inframe 0.00009141●●●●●●
9. 237619984 c.1561G>A p.E521K missense 0.00009123●●●●●●
10. 237713929 c.3152G>A p.R1051H missense 0.00008803●●●●●●
11. 237617852 c.1454G>A p.R485Q missense 0.00008645●●●●●●
12. 237774070 c.4692G>A p.M1564I missense 0.00008584●●●●●●
13. 237811912 c.7511C>T p.T2504M missense 0.00008563●●●●●●
14. 237817674 c.7925G>A p.R2642K missense 0.00008334●●●●●●
15. 237777856 c.5428G>C p.V1810L missense 0.00008297●●●●●●
16. 237948232 c.13220G>A p.S4407N missense 0.00008269●●●●●●
17. 237955441 c.13600C>T p.P4534S missense 0.00007994●●●●●●
18. 237961337 c.13957G>A p.V4653I missense 0.00007794●●●●●●
19. 237787071 c.5923A>G p.M1975V missense 0.00007522●●●●●●
20. 237870323 c.9655G>A p.V3219M missense 0.00007462●●●●●●
21. 237532877 c.353C>T p.A118V missense 0.00007329●●●●●●
22. 237670038 c.2642T>G p.I881R missense 0.00006953●●●●●●
23. 237905624 c.11120G>C p.G3707A missense 0.00006795●●●●●●
24. 237780663 c.5793T>G p.D1931E missense 0.00006698●●●●●●
25. 237802446 c.7060G>A p.A2354T missense 0.00006692●●●●●●
26. 237774113 c.4735G>A p.V1579M missense 0.00006690●●●●●●
27. 237617756 c.1358G>C p.S453T missense 0.00006642●●●●●●
28. 237754201 c.4069G>C p.D1357H missense 0.00006633●●●●●●
29. 237730050 c.3398G>A p.R1133H missense 0.00006625●●●●●●
30. 237924275 c.11423T>A p.F3808Y missense 0.00006560●●●●●●
31. 237889591 c.10708C>T p.R3570W missense 0.00006211●●●●●●
32. 237843796 c.8936G>A p.R2979H missense 0.00006102●●●●●●
33. 237754015 c.3883A>G p.S1295G missense 0.00006095●●●●●●
34. 237755151 c.4273A>G p.T1425A missense 0.00006081●●●●●●
35. 237802462 c.7076G>A p.R2359Q missense 0.00005874●●●●●●
36. 237870447 c.9779G>A p.R3260Q missense 0.00005817●●●●●●
37. 237617752 c.1354G>A p.V452I missense 0.00005813●●●●●●
38. 237711849 c.3025C>T p.R1009W missense 0.00005810●●●●●●
39. 237870335 c.9667G>A p.E3223K missense 0.00005801●●●●●●
40. 237664196 c.2389G>A p.G797R missense 0.00005801●●●●●●
41. 237923148 c.11398T>A p.C3800S missense 0.00005800●●●●●●
42. 237870359 c.9691A>G p.M3231V missense 0.00005798●●●●●●
43. 237954780 c.13528G>A p.A4510T missense 0.00005747●●●●●●
44. 237755067 c.4189T>A p.Y1397N missense 0.00005619●●●●●●
45. 237666594 c.2402G>T p.R801L missense 0.00005509●●●●●●
46. 237774218 c.4840C>T p.R1614C missense 0.00005407●●●●●●
47. 237755119 c.4241G>A p.R1414Q missense 0.00005403●●●●●●
48. 237811860 c.7459C>A p.L2487I missense 0.00005355●●●●●●
49. 237875072 c.10258G>A p.V3420I missense 0.00005127●●●●●●
50. 237947779 c.12767T>C p.M4256T missense 0.00005078●●●●●●
51. 237829825 c.8450C>T p.A2817V missense 0.00005021●●●●●●
52. 237843793 c.8933A>T p.H2978L missense 0.00005018●●●●●●
53. 237777998 c.5570C>T p.P1857L missense 0.00004999●●●●●●
54. 237617790 c.1392C>A p.H464Q missense 0.00004988●●●●●●
55. 237791260 c.6320C>T p.T2107M missense 0.00004983●●●●●●
56. 237756888 c.4388G>A p.R1463H missense 0.00004975●●●●●●
57. 237670011 c.2615T>C p.I872T missense 0.00004932●●●●●●
58. 237872202 c.9946A>G p.K3316E missense 0.00004882●●●●●●
59. 237755056 c.4178delC p.Thr1393LysfsTer28 frameshift 0.00004822●●●●●●
60. 237824245 c.8434C>G p.Q2812E missense 0.00004746●●●●●●
61. 237841393 c.8876A>C p.E2959A missense 0.00004721●●●●●●
62. 237824219 c.8408G>A p.R2803Q missense 0.00004589●●●●●●
63. 237824125 c.8314C>T p.R2772C missense 0.00004557●●●●●●
64. 237824189 c.8378G>A p.R2793Q missense 0.00004512●●●●●●
65. 237824153 c.8342C>T p.T2781I missense 0.00004510●●●●●●
66. 237433891 c.143T>C p.F48S missense 0.00004480●●●●●●
67. 237821259 c.8145G>T p.E2715D missense 0.00004472●●●●●●
68. 237821261 c.8147A>T p.K2716I missense 0.00004467●●●●●●
69. 237934127 c.11497G>A p.D3833N missense 0.00004450●●●●●●
70. 237821272 c.8158T>C p.F2720L missense 0.00004430●●●●●●
71. 237889582 c.10699C>T p.R3567C missense 0.00004405●●●●●●
72. 237666641 c.2449C>G p.P817A missense 0.00004403●●●●●●
73. 237711733 c.2909A>G p.Y970C missense 0.00004380●●●●●●
74. 237947103 c.12091A>G p.T4031A missense 0.00004370●●●●●●
75. 237814727 c.7750A>G p.M2584V missense 0.00004279●●●●●●
76. 237947812 c.12800A>G p.Q4267R missense 0.00004228●●●●●●
77. 237947838 c.12826G>A p.V4276M missense 0.00004202●●●●●●
78. 237540715 c.556G>A p.V186M missense 0.00004184●●●●●●
79. 237617702 c.1304C>T p.A435V missense 0.00004181●●●●●●
80. 237881784 c.10517G>A p.R3506Q missense 0.00004174●●●●●●
81. 237791220 c.6280G>A p.G2094S missense 0.00004161●●●●●●
82. 237791286 c.6346A>G p.T2116A missense 0.00004156●●●●●●
83. 237870446 c.9778C>T p.R3260W missense 0.00004153●●●●●●
84. 237632454 c.1675A>G p.I559V missense 0.00004151●●●●●●
85. 237754228 c.4096A>G p.T1366A missense 0.00004151●●●●●●
86. 237886553 c.10680T>A p.H3560Q missense 0.00004150●●●●●●
87. 237947416 c.12404G>A p.R4135H missense 0.00004146●●●●●●
88. 237659822 c.1973A>G p.N658S missense 0.00004144●●●●●●
89. 237870337 c.9669G>C p.E3223D missense 0.00004143●●●●●●
90. 237947439 c.12427A>C p.K4143Q missense 0.00004143●●●●●●
91. 237664082 c.2275T>A p.L759I missense 0.00004142●●●●●●
92. 237666765 c.2573C>T p.T858M missense 0.00004142●●●●●●
93. 237659836 c.1987G>A p.V663I missense 0.00004142●●●●●●
94. 237777722 c.5294C>T p.S1765F missense 0.00004141●●●●●●
95. 237806639 c.7234G>A p.G2412R missense 0.00004141●●●●●●
96. 237659953 c.2104G>A p.G702R missense 0.00004140●●●●●●
97. 237868632 c.9569G>A p.R3190Q missense 0.00004084●●●●●●
98. 237819152 c.7997T>A p.L2666Q missense 0.00004076●●●●●●
99. 237872827 c.10190G>T p.R3397L missense 0.00004056●●●●●●
100. 237863530 c.9130A>T p.T3044S missense 0.00003971●●●●●●
101. 237780587 c.5717T>C p.M1906T missense 0.00003954●●●●●●
102. 237951310 c.13351G>A p.E4451K missense 0.00003937●●●●●●
103. 237905607 c.11103T>A p.D3701E missense 0.00003736●●●●●●
104. 237831260 c.8590+2T>C essential splice site 0.00003723●●●●●●
105. 237862282 c.9085A>G p.I3029V missense 0.00003710●●●●●●
106. 237823324 c.8248T>A p.S2750T missense 0.00003709●●●●●●
107. 237823338 c.8262G>C p.Q2754H missense 0.00003708●●●●●●
108. 237532864 c.340C>G p.L114V missense 0.00003701●●●●●●
109. 237875080 c.10266G>C p.Q3422H missense 0.00003682●●●●●●
110. 237780632 c.5762G>A p.R1921Q missense 0.00003537●●●●●●
111. 237872251 c.9995C>T p.T3332M missense 0.00003525●●●●●●
112. 237838057 c.8741C>T p.T2914M missense 0.00003483●●●●●●
113. 237670038 c.2642T>A p.I881K missense 0.00003476●●●●●●
114. 237780644 c.5774T>C p.I1925T missense 0.00003432●●●●●●
115. 237604778 c.1165C>T p.R389C missense 0.00003396●●●●●●
116. 237774111 c.4733C>G p.P1578R missense 0.00003389●●●●●●
117. 237729878 c.3226G>A p.E1076K missense 0.00003359●●●●●●
118. 237881795 c.10528C>A p.R3510S missense 0.00003342●●●●●●
119. 237881790 c.10523T>C p.I3508T missense 0.00003340●●●●●●
120. 237778016 c.5588C>T p.T1863M missense 0.00003336●●●●●●
121. 237787081 c.5933A>G p.N1978S missense 0.00003330●●●●●●
122. 237924272 c.11420C>T p.A3807V missense 0.00003329●●●●●●
123. 237580390 c.815G>T p.R272L missense 0.00003328●●●●●●
124. 237870287 c.9619A>G p.N3207D missense 0.00003325●●●●●●
125. 237777937 c.5509G>A p.E1837K missense 0.00003324●●●●●●
126. 237777922 c.5494G>A p.G1832S missense 0.00003324●●●●●●
127. 237895385 c.10975A>G p.K3659E missense 0.00003321●●●●●●
128. 237777400 c.4972C>T p.L1658F missense 0.00003321●●●●●●
129. 237780695 c.5825T>G p.F1942C missense 0.00003320●●●●●●
130. 237586493 c.950T>C p.M317T missense 0.00003317●●●●●●
131. 237777484 c.5056C>T p.L1686F missense 0.00003315●●●●●●
132. 237777682 c.5254G>A p.G1752S missense 0.00003315●●●●●●
133. 237831250 c.8582A>G p.E2861G missense 0.00003313●●●●●●
134. 237801664 c.6800G>A p.R2267H missense 0.00003313●●●●●●
135. 237886513 c.10640C>T p.T3547M missense 0.00003313●●●●●●
136. 237813288 c.7624G>A p.A2542T missense 0.00003312●●●●●●
137. 237729951 c.3299G>A p.R1100Q missense 0.00003312●●●●●●
138. 237729947 c.3295G>A p.G1099R missense 0.00003312●●●●●●
139. 237659894 c.2045C>G p.T682R missense 0.00003312●●●●●●
140. 237863738 c.9338G>A p.G3113D missense 0.00003229●●●●●●
141. 237774123 c.4745_4746insC p.Arg1585AlafsTer29 frameshift 0.00003192●●●●●●
142. 237831245 c.8577G>C p.E2859D missense 0.00003190●●●●●●
143. 237954728 c.13477-1G>C essential splice site 0.00003161●●●●●●
144. 237433797 c.49G>A p.D17N missense 0.00003108●●●●●●
145. 237675030 c.2761T>A p.F921I missense 0.00003076●●●●●●
146. 237924314 c.11462C>T p.T3821I missense 0.00003052●●●●●●
147. 237872826 c.10189C>T p.R3397C missense 0.00003044●●●●●●
148. 237798272 c.6772C>T p.R2258C missense 0.00003041●●●●●●
149. 237713893 c.3116A>T p.D1039V missense 0.00002987●●●●●●
150. 237831220 c.8552T>C p.I2851T missense 0.00002979●●●●●●
151. 237870542 c.9874G>A p.E3292K missense 0.00002965●●●●●●
152. 237713953 c.3176G>A p.G1059E missense 0.00002965●●●●●●
153. 237819215 c.8060G>A p.S2687N missense 0.00002900●●●●●●
154. 237823304 c.8228A>G p.Y2743C missense 0.00002860●●●●●●
155. 237823345 c.8269A>G p.M2757V missense 0.00002814●●●●●●
156. 237951338 c.13379A>G p.Q4460R missense 0.00002766●●●●●●
157. 237863581 c.9181C>G p.L3061V missense 0.00002723●●●●●●
158. 237791172 c.6232C>T p.P2078S missense 0.00002723●●●●●●
159. 237713946 c.3169C>A p.L1057M missense 0.00002678●●●●●●
160. 237868585 c.9522T>A p.H3174Q missense 0.00002658●●●●●●
161. 237863585 c.9185A>G p.D3062G missense 0.00002632●●●●●●
162. 237713944 c.3167C>T p.T1056M missense 0.00002620●●●●●●
163. 237947104 c.12092C>A p.T4031N missense 0.00002619●●●●●●
164. 237955507 c.13666G>A p.A4556T missense 0.00002601●●●●●●
165. 237656263 c.1837G>A p.V613I missense 0.00002601●●●●●●
166. 237754277 c.4145C>G p.S1382C missense 0.00002595●●●●●●
167. 237947244 c.12232C>A p.L4078I missense 0.00002568●●●●●●
168. 237713941 c.3164G>A p.R1055H missense 0.00002566●●●●●●
169. 237947253 c.12241G>A p.E4081K missense 0.00002565●●●●●●
170. 237947256 c.12244G>A p.E4082K missense 0.00002562●●●●●●
171. 237604779 c.1166G>A p.R389H missense 0.00002556●●●●●●
172. 237995918 c.14875C>T p.R4959W missense 0.00002551●●●●●●
173. 237947764 c.12752A>G p.N4251S missense 0.00002535●●●●●●
174. 237787065 c.5917A>G p.I1973V missense 0.00002518●●●●●●
175. 237811755 c.7354G>A p.V2452M missense 0.00002511●●●●●●
176. 237947849 c.12837G>A p.M4279I missense 0.00002511●●●●●●
177. 237778028 c.5600A>C p.E1867A missense 0.00002504●●●●●●
178. 237619915 c.1492G>A p.V498M missense 0.00002504●●●●●●
179. 237778021 c.5593G>A p.E1865K missense 0.00002503●●●●●●
180. 237948105 c.13093G>A p.D4365N missense 0.00002503●●●●●●
181. 237947343 c.12331A>C p.N4111H missense 0.00002501●●●●●●
182. 237729890 c.3238G>A p.G1080S missense 0.00002497●●●●●●
183. 237660037 c.2188C>T p.L730F missense 0.00002495●●●●●●
184. 237617722 c.1324G>T p.A442S missense 0.00002495●●●●●●
185. 237791224 c.6284T>C p.I2095T missense 0.00002495●●●●●●
186. 237789053 c.6115C>A p.L2039M missense 0.00002494●●●●●●
187. 237895428 c.11018G>A p.R3673Q missense 0.00002493●●●●●●
188. 237870440 c.9772C>T p.P3258S missense 0.00002491●●●●●●
189. 237780691 c.5821C>T p.R1941C missense 0.00002491●●●●●●
190. 237780692 c.5822G>A p.R1941H missense 0.00002491●●●●●●
191. 237754229 c.4097C>A p.T1366N missense 0.00002491●●●●●●
192. 237711850 c.3026G>A p.R1009Q missense 0.00002490●●●●●●
193. 237732502 c.3481G>C p.V1161L missense 0.00002489●●●●●●
194. 237608802 c.1272C>G p.F424L missense 0.00002488●●●●●●
195. 237777626 c.5198C>T p.T1733M missense 0.00002488●●●●●●
196. 237777418 c.4990G>A p.V1664I missense 0.00002488●●●●●●
197. 237777848 c.5420G>A p.R1807Q missense 0.00002488●●●●●●
198. 237813192 c.7528A>G p.T2510A missense 0.00002488●●●●●●
199. 237608780 c.1250G>A p.R417Q missense 0.00002487●●●●●●
200. 237947956 c.12944G>A p.G4315E missense 0.00002487●●●●●●
201. 237947929 c.12917T>C p.F4306S missense 0.00002487●●●●●●
202. 237754201 c.4069G>A p.D1357N missense 0.00002487●●●●●●
203. 237870404 c.9736A>G p.M3246V missense 0.00002486●●●●●●
204. 237777474 c.5046A>C p.E1682D missense 0.00002486●●●●●●
205. 237604656 c.1043G>A p.G348D missense 0.00002485●●●●●●
206. 237666758 c.2566T>C p.S856P missense 0.00002485●●●●●●
207. 237666737 c.2545G>A p.D849N missense 0.00002485●●●●●●
208. 237813288 c.7624G>T p.A2542S missense 0.00002484●●●●●●
209. 237664171 c.2364C>A p.F788L missense 0.00002484●●●●●●
210. 237813372 c.7708G>A p.E2570K missense 0.00002484●●●●●●
211. 237664155 c.2348A>G p.N783S missense 0.00002484●●●●●●
212. 237813285 c.7621C>A p.H2541N missense 0.00002484●●●●●●
213. 237713940 c.3163C>T p.R1055C missense 0.00002481●●●●●●
214. 237666612 c.2420G>A p.R807Q missense 0.00002475●●●●●●
215. 237944871 c.11887A>T p.S3963C missense 0.00002465●●●●●●
216. 237955412 c.13571_13573delCTT p.Ser4526del inframe 0.00002457●●●●●●
217. 237955411 c.13570A>G p.T4524A missense 0.00002457●●●●●●
218. 237656302 c.1876C>T p.R626C missense 0.00002437●●●●●●
219. 237955412 c.13571C>T p.T4524I missense 0.00002422●●●●●●
220. 237843828 c.8968C>T p.L2990F missense 0.00002347●●●●●●
221. 237850789 c.9052A>G p.R3018G missense 0.00002340●●●●●●
222. 237841391 c.8874A>T p.Q2958H missense 0.00002335●●●●●●
223. 237814785 c.7808C>G p.A2603G missense 0.00002311●●●●●●
224. 237814785 c.7808C>T p.A2603V missense 0.00002311●●●●●●
225. 237843824 c.8964A>T p.R2988S missense 0.00002302●●●●●●
226. 237948207 c.13195A>G p.N4399D missense 0.00002279●●●●●●
227. 237949323 c.13315C>A p.P4439T missense 0.00002273●●●●●●
228. 237656270 c.1844G>A p.C615Y missense 0.00002271●●●●●●
229. 237872857 c.10220C>T p.S3407L missense 0.00002271●●●●●●
230. 237433834 c.86A>G p.H29R missense 0.00002252●●●●●●
231. 237814721 c.7744C>A p.P2582T missense 0.00002231●●●●●●
232. 237774114 c.4736T>A p.V1579E missense 0.00002215●●●●●●
233. 237774114 c.4736T>C p.V1579A missense 0.00002215●●●●●●
234. 237870571 c.9901+2T>G essential splice site 0.00002193●●●●●●
235. 237944879 c.11895T>G p.I3965M missense 0.00002189●●●●●●
236. 237433884 c.136C>A p.L46I missense 0.00002188●●●●●●
237. 237949311 c.13303A>G p.T4435A missense 0.00002182●●●●●●
238. 237951299 c.13340G>A p.G4447E missense 0.00002179●●●●●●
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966. 237801748 c.6884G>A p.G2295E missense 0.00000828●●●●●●
967. 237666705 c.2513G>A p.R838Q missense 0.00000828●●●●●●
968. 237813318 c.7654G>A p.V2552M missense 0.00000828●●●●●●
969. 237586436 c.893G>A p.R298H missense 0.00000828●●●●●●
970. 237813210 c.7546C>T p.L2516F missense 0.00000828●●●●●●
971. 237659972 c.2123G>C p.G708A missense 0.00000828●●●●●●
972. 237813228 c.7564A>C p.T2522P missense 0.00000828●●●●●●
973. 237972271 c.14369G>A p.R4790Q missense 0.00000828●●●●●●
974. 237664130 c.2323G>A p.V775I missense 0.00000828●●●●●●
975. 237886513 c.10640C>G p.T3547R missense 0.00000828●●●●●●
976. 237777733 c.5305G>T p.V1769L missense 0.00000828●●●●●●
977. 237813378 c.7714T>G p.C2572G missense 0.00000828●●●●●●
978. 237494212 c.203T>G p.V68G missense 0.00000828●●●●●●
979. 237870371 c.9703A>G p.M3235V missense 0.00000828●●●●●●
980. 237659878 c.2029T>A p.L677M missense 0.00000828●●●●●●
981. 237923112 c.11362G>A p.G3788S missense 0.00000828●●●●●●
982. 237659858 c.2009A>G p.Y670C missense 0.00000828●●●●●●
983. 237982465 c.14563A>G p.I4855V missense 0.00000828●●●●●●
984. 237972324 c.14422G>A p.D4808N missense 0.00000828●●●●●●
985. 237550633 c.629C>T p.T210I missense 0.00000828●●●●●●
986. 237806687 c.7282C>G p.P2428A missense 0.00000828●●●●●●
987. 237550629 c.625C>G p.Q209E missense 0.00000828●●●●●●
988. 237813363 c.7699G>T p.D2567Y missense 0.00000828●●●●●●
989. 237664109 c.2302T>G p.F768V missense 0.00000828●●●●●●
990. 237788994 c.6056G>A p.G2019E missense 0.00000828●●●●●●
991. 237754121 c.3989C>G p.P1330R missense 0.00000828●●●●●●
992. 237659974 c.2125G>T p.G709W missense 0.00000828●●●●●●
993. 237754129 c.3997G>A p.D1333N missense 0.00000828●●●●●●
994. 237870347 c.9679C>T p.R3227C missense 0.00000828●●●●●●
995. 237813361 c.7697G>A p.R2566Q missense 0.00000828●●●●●●
996. 237801787 c.6923G>C p.C2308S missense 0.00000828●●●●●●
997. 237666734 c.2542C>T p.R848C missense 0.00000828●●●●●●
998. 237801675 c.6811G>A p.G2271S missense 0.00000828●●●●●●
999. 237813238 c.7574T>C p.L2525S missense 0.00000828●●●●●●
1000. 237796885 c.6563C>G p.T2188S missense 0.00000828●●●●●●
1001. 237586440 c.897T>A p.H299Q missense 0.00000828●●●●●●
1002. 237947550 c.12538G>C p.G4180R missense 0.00000828●●●●●●
1003. 237813216 c.7552C>T p.R2518W missense 0.00000828●●●●●●
1004. 237664141 c.2334G>C p.M778I missense 0.00000828●●●●●●
1005. 237777764 c.5336G>A p.S1779N missense 0.00000828●●●●●●
1006. 237777706 c.5278C>G p.R1760G missense 0.00000828●●●●●●
1007. 237494226 c.217C>G p.L73V missense 0.00000828●●●●●●
1008. 237729939 c.3287T>C p.V1096A missense 0.00000828●●●●●●
1009. 237813292 c.7628C>T p.S2543F missense 0.00000828●●●●●●
1010. 237813355 c.7691C>T p.A2564V missense 0.00000828●●●●●●
1011. 237993852 c.14678T>C p.I4893T missense 0.00000828●●●●●●
1012. 237659930 c.2081G>A p.R694Q missense 0.00000828●●●●●●
1013. 237664113 c.2306G>A p.R769Q missense 0.00000828●●●●●●
1014. 237660012 c.2163T>A p.D721E missense 0.00000828●●●●●●
1015. 237789015 c.6077G>C p.R2026T missense 0.00000828●●●●●●
1016. 237777727 c.5299A>G p.S1767G missense 0.00000828●●●●●●
1017. 237754123 c.3991A>C p.K1331Q missense 0.00000828●●●●●●
1018. 237754103 c.3971G>C p.G1324A missense 0.00000828●●●●●●
1019. 237729984 c.3332G>C p.G1111A missense 0.00000828●●●●●●
1020. 237870348 c.9680G>A p.R3227H missense 0.00000828●●●●●●
1021. 237666762 c.2570T>A p.L857Q missense 0.00000828●●●●●●
1022. 237813363 c.7699G>A p.D2567N missense 0.00000828●●●●●●
1023. 237666739 c.2547C>A p.D849E missense 0.00000828●●●●●●
1024. 237494205 c.196A>G p.T66A missense 0.00000828●●●●●●
1025. 237801727 c.6863T>C p.I2288T missense 0.00000828●●●●●●
1026. 237813276 c.7612A>G p.T2538A missense 0.00000828●●●●●●
1027. 237664181 c.2374G>A p.V792I missense 0.00000828●●●●●●
1028. 237777707 c.5279G>A p.R1760Q missense 0.00000828●●●●●●
1029. 237494263 c.254C>T p.T85I missense 0.00000828●●●●●●
1030. 237666698 c.2506C>A p.H836N missense 0.00000828●●●●●●
1031. 237729924 c.3272_3274delAGA p.Lys1092del inframe 0.00000828●●●●●●
1032. 237813298 c.7634T>C p.I2545T missense 0.00000828●●●●●●
1033. 237993842 c.14668A>G p.I4890V missense 0.00000828●●●●●●
1034. 237729918 c.3266G>A p.R1089H missense 0.00000828●●●●●●
1035. 237982415 c.14513A>G p.E4838G missense 0.00000828●●●●●●
1036. 237586422 c.879G>C p.Q293H missense 0.00000828●●●●●●
1037. 237494235 c.226C>T p.R76W missense 0.00000828●●●●●●
1038. 237813223 c.7559T>C p.L2520P missense 0.00000828●●●●●●
1039. 237993862 c.14688T>A p.D4896E missense 0.00000828●●●●●●
1040. 237586427 c.884T>C p.F295S missense 0.00000828●●●●●●
1041. 237664164 c.2357G>A p.G786D missense 0.00000828●●●●●●
1042. 237664127 c.2320C>A p.P774T missense 0.00000828●●●●●●
1043. 237969533 c.14248T>C p.F4750L missense 0.00000828●●●●●●
1044. 237806717 c.7312A>C p.I2438L missense 0.00000828●●●●●●
1045. 237777785 c.5357T>C p.I1786T missense 0.00000828●●●●●●
1046. 237777730 c.5302T>C p.F1768L missense 0.00000828●●●●●●
1047. 237754135 c.4003G>A p.E1335K missense 0.00000828●●●●●●
1048. 237886504 c.10631C>T p.P3544L missense 0.00000828●●●●●●
1049. 237730013 c.3361G>A p.G1121S missense 0.00000828●●●●●●
1050. 237494211 c.202G>C p.V68L missense 0.00000828●●●●●●
1051. 237870361 c.9693G>A p.M3231I missense 0.00000828●●●●●●
1052. 237813370 c.7706T>C p.I2569T missense 0.00000828●●●●●●
1053. 237947592 c.12580G>A p.E4194K missense 0.00000828●●●●●●
1054. 237664080 c.2273G>C p.C758S missense 0.00000828●●●●●●
1055. 237923098 c.11348A>T p.E3783V missense 0.00000828●●●●●●
1056. 237796884 c.6562A>C p.T2188P missense 0.00000828●●●●●●
1057. 237664160 c.2353G>A p.D785N missense 0.00000828●●●●●●
1058. 237972306 c.14404C>T p.P4802S missense 0.00000828●●●●●●
1059. 237550627 c.623A>G p.Q208R missense 0.00000828●●●●●●
1060. 237813361 c.7697G>T p.R2566L missense 0.00000828●●●●●●
1061. 237664107 c.2300C>T p.S767L missense 0.00000828●●●●●●
1062. 237494244 c.235C>A p.Q79K missense 0.00000828●●●●●●
1063. 237806687 c.7282C>T p.P2428S missense 0.00000828●●●●●●
1064. 237729947 c.3295G>C p.G1099R missense 0.00000828●●●●●●
1065. 237659950 c.2101G>C p.E701Q missense 0.00000828●●●●●●
1066. 237777713 c.5285A>C p.Q1762P 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.