CACNA1D variants in ExAC

CACNA1D gene summary
CACNA1D variants in

The table below lists the CACNA1D 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. 53707853 c.1220+10C>T splice site 0.00934533●●●●●●
2. 53804021 c.3952C>T p.P1318S missense 0.00481054●●●●●●
3. 53842692 c.5826_5828delCTT p.Phe1943del inframe 0.00254160●●●●●●
4. 53845129 c.6253-11T>C splice site 0.00112135●●●●●●
5. 53835299 c.5315C>T p.T1772I missense 0.00092263●●●●●●
6. 53766920 c.2612T>G p.L871W missense 0.00065903●●●●●●
7. 53752723 c.1493G>A p.R498Q missense 0.00059129●●●●●●
8. 53787624 c.3761A>G p.N1254S missense 0.00051070●●●●●●
9. 53783341 c.3421A>G p.I1141V missense 0.00050309●●●●●●
10. 53834369 c.5077G>A p.E1693K missense 0.00049427●●●●●●
11. 53787593 c.3736-6C>T splice site 0.00046963●●●●●●
12. 53769508 c.2789G>A p.R930H missense 0.00046368●●●●●●
13. 53845384 c.6497G>A p.R2166K missense 0.00045863●●●●●●
14. 53796092 c.3914C>T p.A1305V missense 0.00040369●●●●●●
15. 53781323 c.3228-6C>G splice site 0.00037065●●●●●●
16. 53700371 c.925G>A p.V309I missense 0.00034593●●●●●●
17. 53760987 c.2242G>A p.V748I missense 0.00033770●●●●●●
18. 53835422 c.5438G>A p.R1813Q missense 0.00028921●●●●●●
19. 53765178 c.2466+5G>A splice site 0.00025996●●●●●●
20. 53796091 c.3913G>A p.A1305T missense 0.00025540●●●●●●
21. 53531171 c.68-8C>T splice site 0.00024831●●●●●●
22. 53837487 c.5533C>T p.R1845W missense 0.00024714●●●●●●
23. 53796059 c.3881C>T p.S1294F missense 0.00022239●●●●●●
24. 53844126 c.6053C>A p.T2018N missense 0.00021477●●●●●●
25. 53835340 c.5356G>C p.A1786P missense 0.00020601●●●●●●
26. 53766103 c.2527G>A p.V843M missense 0.00019790●●●●●●
27. 53736825 c.1378G>A p.G460S missense 0.00019007●●●●●●
28. 53836178 c.5473C>T p.R1825C missense 0.00018945●●●●●●
29. 53752758 c.1528C>T p.R510W missense 0.00018042●●●●●●
30. 53752414 c.1477T>A p.W493R missense 0.00017341●●●●●●
31. 53757995 c.2129A>G p.N710S missense 0.00016509●●●●●●
32. 53736836 c.1389T>G p.N463K missense 0.00015747●●●●●●
33. 53752710 c.1480T>C p.C494R missense 0.00013850●●●●●●
34. 53844069 c.5996G>A p.R1999Q missense 0.00013214●●●●●●
35. 53845288 c.6401G>T p.R2134L missense 0.00013213●●●●●●
36. 53839069 c.5705G>A p.R1902Q missense 0.00013180●●●●●●
37. 53834368 c.5076_5078delAGA p.Glu1695del inframe 0.00013179●●●●●●
38. 53844275 c.6202C>T p.R2068W missense 0.00012429●●●●●●
39. 53766050 c.2474T>C p.I825T missense 0.00012358●●●●●●
40. 53787662 c.3799G>T p.V1267L missense 0.00012356●●●●●●
41. 53844069 c.5996G>C p.R1999P missense 0.00011562●●●●●●
42. 53839116 c.5752G>A p.V1918I missense 0.00011548●●●●●●
43. 53736798 c.1351G>C p.E451Q missense 0.00011542●●●●●●
44. 53837454 c.5500G>A p.D1834N missense 0.00011540●●●●●●
45. 53837488 c.5534G>A p.R1845Q missense 0.00011533●●●●●●
46. 53835263 c.5279A>G p.H1760R missense 0.00011532●●●●●●
47. 53834278 c.4986G>A splice site 0.00011531●●●●●●
48. 53845342 c.6455A>G p.D2152G missense 0.00009214●●●●●●
49. 53752424 c.1478+9G>A splice site 0.00009103●●●●●●
50. 53779912 c.3227+10C>G splice site 0.00008329●●●●●●
51. 53779647 c.3067-4G>A splice site 0.00008245●●●●●●
52. 53783356 c.3436G>A p.V1146M missense 0.00008242●●●●●●
53. 53756472 c.1697A>G p.N566S missense 0.00007413●●●●●●
54. 53736832 c.1385G>A p.R462Q missense 0.00006624●●●●●●
55. 53844234 c.6161G>A p.R2054Q missense 0.00006609●●●●●●
56. 53839111 c.5747C>T p.S1916L missense 0.00006597●●●●●●
57. 53835355 c.5371C>T p.R1791W missense 0.00006593●●●●●●
58. 53783389 c.3469A>G p.I1157V missense 0.00006590●●●●●●
59. 53779682 c.3098G>A p.R1033Q missense 0.00006590●●●●●●
60. 53736826 c.1379G>A p.G460D missense 0.00005785●●●●●●
61. 53844233 c.6160C>T p.R2054W missense 0.00005783●●●●●●
62. 53845278 c.6391G>A p.V2131M missense 0.00005773●●●●●●
63. 53779842 c.3175-8A>G splice site 0.00005770●●●●●●
64. 53808606 c.4171-8C>G splice site 0.00005767●●●●●●
65. 53804531 c.4056G>C p.R1352S missense 0.00005766●●●●●●
66. 53769522 c.2803C>T p.R935W missense 0.00004954●●●●●●
67. 53779847 c.3175-3C>T splice site 0.00004946●●●●●●
68. 53535697 c.433A>G p.I145V missense 0.00004945●●●●●●
69. 53810927 c.4591C>T p.R1531C missense 0.00004944●●●●●●
70. 53757968 c.2102C>T p.T701M missense 0.00004944●●●●●●
71. 53814150 c.4745C>T p.T1582I missense 0.00004943●●●●●●
72. 53756352 c.1577G>A p.R526H missense 0.00004942●●●●●●
73. 53760951 c.2206A>G p.M736V missense 0.00004942●●●●●●
74. 53752704 c.1479-5A>C splice site 0.00004638●●●●●●
75. 53752731 c.1501G>A p.A501T missense 0.00004511●●●●●●
76. 53752734 c.1504G>A p.A502T missense 0.00004484●●●●●●
77. 53529253 c.60C>A p.H20Q missense 0.00004163●●●●●●
78. 53758032 c.2160+6T>C splice site 0.00004141●●●●●●
79. 53842763 c.5897G>A p.R1966H missense 0.00004139●●●●●●
80. 53842738 c.5872C>G p.P1958A missense 0.00004136●●●●●●
81. 53844054 c.5981C>T p.P1994L missense 0.00004133●●●●●●
82. 53844173 c.6100G>A p.G2034S missense 0.00004130●●●●●●
83. 53839132 c.5768G>A p.R1923Q missense 0.00004129●●●●●●
84. 53783503 c.3576+7G>A splice site 0.00004126●●●●●●
85. 53783335 c.3415G>A p.G1139S missense 0.00004126●●●●●●
86. 53700551 c.1105G>A p.V369M missense 0.00004124●●●●●●
87. 53779863 c.3188G>A p.R1063H missense 0.00004123●●●●●●
88. 53531422 c.311G>A p.R104H missense 0.00004122●●●●●●
89. 53752376 c.1439G>A p.S480N missense 0.00004121●●●●●●
90. 53845164 c.6277C>T p.R2093C missense 0.00004120●●●●●●
91. 53531401 c.290C>T p.S97L missense 0.00004120●●●●●●
92. 53753811 c.1565+3C>T splice site 0.00004119●●●●●●
93. 53836171 c.5469-3T>C splice site 0.00004118●●●●●●
94. 53787651 c.3788T>C p.V1263A missense 0.00004118●●●●●●
95. 53757865 c.1999A>T p.M667L missense 0.00004118●●●●●●
96. 53779909 c.3227+7G>A splice site 0.00003329●●●●●●
97. 53842682 c.5816G>A p.R1939Q missense 0.00003313●●●●●●
98. 53835421 c.5437C>T p.R1813W missense 0.00003305●●●●●●
99. 53844104 c.6031C>T p.R2011W missense 0.00003304●●●●●●
100. 53844209 c.6136A>G p.T2046A missense 0.00003304●●●●●●
101. 53844068 c.5995C>T p.R1999W missense 0.00003303●●●●●●
102. 53756426 c.1651G>A p.V551I missense 0.00003299●●●●●●
103. 53820948 c.4952A>G p.Y1651C missense 0.00003299●●●●●●
104. 53752394 c.1457G>A p.R486Q missense 0.00003298●●●●●●
105. 53779653 c.3069C>T p.H1023H splice site 0.00003296●●●●●●
106. 53845162 c.6275G>A p.G2092E missense 0.00003296●●●●●●
107. 53835224 c.5240C>T p.P1747L missense 0.00003295●●●●●●
108. 53836185 c.5480A>G p.Y1827C missense 0.00003295●●●●●●
109. 53785816 c.3617G>A p.R1206Q missense 0.00003295●●●●●●
110. 53757689 c.1952+3A>G splice site 0.00003295●●●●●●
111. 53787617 c.3754A>G p.M1252V missense 0.00003295●●●●●●
112. 53777041 c.2875A>G p.T959A missense 0.00003295●●●●●●
113. 53787671 c.3808G>A p.V1270I missense 0.00003295●●●●●●
114. 53785860 c.3661G>A p.V1221M missense 0.00003295●●●●●●
115. 53845378 c.6491C>A p.P2164H missense 0.00002616●●●●●●
116. 53529246 c.53C>G p.A18G missense 0.00002498●●●●●●
117. 53844290 c.6217G>A p.D2073N missense 0.00002490●●●●●●
118. 53844276 c.6203G>A p.R2068Q missense 0.00002486●●●●●●
119. 53842681 c.5815C>T p.R1939W missense 0.00002485●●●●●●
120. 53844047 c.5974T>C p.Y1992H missense 0.00002480●●●●●●
121. 53769529 c.2810C>T p.T937M missense 0.00002480●●●●●●
122. 53844063 c.5990C>T p.S1997L missense 0.00002478●●●●●●
123. 53845288 c.6401G>A p.R2134Q missense 0.00002477●●●●●●
124. 53845296 c.6409G>A p.G2137R missense 0.00002476●●●●●●
125. 53820954 c.4958C>T p.A1653V missense 0.00002475●●●●●●
126. 53779646 c.3067-5C>T splice site 0.00002474●●●●●●
127. 53783349 c.3429C>A p.N1143K missense 0.00002473●●●●●●
128. 53845236 c.6349G>A p.D2117N missense 0.00002473●●●●●●
129. 53736796 c.1349C>T p.P450L missense 0.00002473●●●●●●
130. 53752368 c.1431G>C p.E477D missense 0.00002473●●●●●●
131. 53845137 c.6253-3C>T splice site 0.00002473●●●●●●
132. 53796100 c.3922G>A p.E1308K missense 0.00002472●●●●●●
133. 53766892 c.2584G>A p.G862R missense 0.00002472●●●●●●
134. 53769396 c.2682-5T>G splice site 0.00002472●●●●●●
135. 53845152 c.6265G>A p.E2089K missense 0.00002472●●●●●●
136. 53766941 c.2633C>T p.A878V missense 0.00002472●●●●●●
137. 53845185 c.6298T>C p.F2100L missense 0.00002472●●●●●●
138. 53781324 c.3228-5T>C splice site 0.00002471●●●●●●
139. 53760942 c.2197G>A p.D733N missense 0.00002471●●●●●●
140. 53836170 c.5469-4A>G splice site 0.00002471●●●●●●
141. 53787605 c.3742G>A p.E1248K missense 0.00002471●●●●●●
142. 53757516 c.1782G>A p.M594I missense 0.00002471●●●●●●
143. 53804530 c.4055G>A p.R1352K missense 0.00002471●●●●●●
144. 53774326 c.2831A>G p.Y944C missense 0.00002471●●●●●●
145. 53835209 c.5225G>C p.S1742T missense 0.00002471●●●●●●
146. 53836182 c.5477A>G p.Y1826C missense 0.00002471●●●●●●
147. 53804467 c.3992A>G p.N1331S missense 0.00002471●●●●●●
148. 53765136 c.2429A>G p.K810R missense 0.00001681●●●●●●
149. 53844333 c.6252+8C>T splice site 0.00001676●●●●●●
150. 53844306 c.6233C>T p.A2078V missense 0.00001665●●●●●●
151. 53529240 c.47A>G p.Q16R missense 0.00001665●●●●●●
152. 53779908 c.3227+6C>T splice site 0.00001664●●●●●●
153. 53764461 c.2282-8G>A splice site 0.00001663●●●●●●
154. 53842804 c.5931+7G>A splice site 0.00001661●●●●●●
155. 53842803 c.5931+6C>T splice site 0.00001661●●●●●●
156. 53779901 c.3226A>G p.R1076G missense 0.00001660●●●●●●
157. 53835459 c.5468+7delT splice site 0.00001660●●●●●●
158. 53531483 c.372A>C p.E124D missense 0.00001658●●●●●●
159. 53842672 c.5810-4C>G splice site 0.00001658●●●●●●
160. 53845320 c.6433C>T p.R2145W missense 0.00001658●●●●●●
161. 53844020 c.5947G>A p.G1983S missense 0.00001656●●●●●●
162. 53766117 c.2533+8G>C splice site 0.00001656●●●●●●
163. 53835440 c.5456C>T p.S1819F missense 0.00001656●●●●●●
164. 53842697 c.5831A>C p.N1944T missense 0.00001656●●●●●●
165. 53842766 c.5900C>T p.T1967M missense 0.00001655●●●●●●
166. 53842711 c.5845C>T p.R1949C missense 0.00001655●●●●●●
167. 53736831 c.1384C>G p.R462G missense 0.00001655●●●●●●
168. 53842760 c.5894A>G p.H1965R missense 0.00001655●●●●●●
169. 53842714 c.5848C>T p.R1950W missense 0.00001655●●●●●●
170. 53842739 c.5873C>T p.P1958L missense 0.00001654●●●●●●
171. 53842742 c.5876C>T p.S1959L missense 0.00001654●●●●●●
172. 53845312 c.6425T>A p.L2142H missense 0.00001654●●●●●●
173. 53769530 c.2811G>A p.T937T splice site 0.00001653●●●●●●
174. 53844167 c.6094G>A p.V2032M missense 0.00001652●●●●●●
175. 53844221 c.6148G>A p.D2050N missense 0.00001652●●●●●●
176. 53839035 c.5671T>C p.Y1891H missense 0.00001652●●●●●●
177. 53531446 c.335A>G p.N112S missense 0.00001651●●●●●●
178. 53839123 c.5759A>G p.Y1920C missense 0.00001650●●●●●●
179. 53810761 c.4550+4G>C splice site 0.00001650●●●●●●
180. 53839119 c.5755T>G p.C1919G missense 0.00001650●●●●●●
181. 53820842 c.4853-7C>T splice site 0.00001650●●●●●●
182. 53531257 c.146C>T p.T49I missense 0.00001650●●●●●●
183. 53779862 c.3187C>T p.R1063C missense 0.00001649●●●●●●
184. 53839104 c.5740G>A p.D1914N missense 0.00001649●●●●●●
185. 53820920 c.4924C>T p.R1642W missense 0.00001649●●●●●●
186. 53769492 c.2773G>A p.A925T missense 0.00001649●●●●●●
187. 53783347 c.3427A>G p.N1143D missense 0.00001649●●●●●●
188. 53779860 c.3185A>G p.Y1062C missense 0.00001649●●●●●●
189. 53815652 c.4810A>G p.T1604A missense 0.00001648●●●●●●
190. 53808712 c.4262+7G>A splice site 0.00001648●●●●●●
191. 53781475 c.3374C>G p.A1125G missense 0.00001648●●●●●●
192. 53766071 c.2495A>T p.D832V missense 0.00001648●●●●●●
193. 53707750 c.1127C>T p.A376V missense 0.00001648●●●●●●
194. 53837524 c.5570C>T p.P1857L missense 0.00001648●●●●●●
195. 53783356 c.3436G>T p.V1146L missense 0.00001648●●●●●●
196. 53834380 c.5088T>A p.D1696E missense 0.00001648●●●●●●
197. 53814055 c.4650A>G splice site 0.00001648●●●●●●
198. 53769408 c.2689G>A p.V897I missense 0.00001648●●●●●●
199. 53815628 c.4786G>A p.V1596M missense 0.00001648●●●●●●
200. 53815623 c.4781G>A p.R1594Q missense 0.00001648●●●●●●
201. 53699710 c.790A>G p.I264V missense 0.00001648●●●●●●
202. 53781475 c.3374C>T p.A1125V missense 0.00001648●●●●●●
203. 53796027 c.3849G>T splice site 0.00001648●●●●●●
204. 53814129 c.4724G>A p.R1575Q missense 0.00001648●●●●●●
205. 53809998 c.4348G>A p.G1450R missense 0.00001647●●●●●●
206. 53804470 c.3995G>C p.R1332T missense 0.00001647●●●●●●
207. 53834350 c.5058G>T p.E1686D missense 0.00001647●●●●●●
208. 53835145 c.5161C>T p.L1721F missense 0.00001647●●●●●●
209. 53757544 c.1810G>A p.V604I missense 0.00001647●●●●●●
210. 53810005 c.4355A>G p.E1452G missense 0.00001647●●●●●●
211. 53787649 c.3786G>A p.M1262I missense 0.00001647●●●●●●
212. 53781379 c.3278G>A p.R1093H missense 0.00001647●●●●●●
213. 53757599 c.1865C>T p.T622M missense 0.00001647●●●●●●
214. 53783437 c.3517G>A p.V1173I missense 0.00001647●●●●●●
215. 53808642 c.4199A>C p.N1400T missense 0.00001647●●●●●●
216. 53781418 c.3317A>G p.N1106S missense 0.00001647●●●●●●
217. 53757816 c.1953-3T>C splice site 0.00001647●●●●●●
218. 53839053 c.5689G>A p.D1897N missense 0.00001647●●●●●●
219. 53785806 c.3607C>T p.R1203C missense 0.00001647●●●●●●
220. 53834367 c.5075G>A p.R1692Q missense 0.00001647●●●●●●
221. 53810031 c.4381A>G p.I1461V missense 0.00001647●●●●●●
222. 53756370 c.1595A>G p.N532S missense 0.00001647●●●●●●
223. 53756345 c.1570C>T p.R524C missense 0.00001647●●●●●●
224. 53836200 c.5495G>C p.R1832T missense 0.00001647●●●●●●
225. 53781414 c.3313G>A p.D1105N missense 0.00001647●●●●●●
226. 53774329 c.2834C>T p.A945V missense 0.00001647●●●●●●
227. 53777034 c.2872-4C>G splice site 0.00001647●●●●●●
228. 53707812 c.1189G>A p.V397I missense 0.00001647●●●●●●
229. 53779690 c.3106G>A p.G1036S missense 0.00001647●●●●●●
230. 53785887 c.3688A>G p.M1230V missense 0.00001647●●●●●●
231. 53785812 c.3613T>A p.L1205M missense 0.00001647●●●●●●
232. 53845425 c.6538A>G p.T2180A missense 0.00001013●●●●●●
233. 53765108 c.2401G>C p.E801Q missense 0.00000895●●●●●●
234. 53765112 c.2405G>A p.S802N missense 0.00000880●●●●●●
235. 53845380 c.6493G>A p.G2165R missense 0.00000874●●●●●●
236. 53531173 c.68-6C>T splice site 0.00000854●●●●●●
237. 53765130 c.2423A>G p.N808S missense 0.00000845●●●●●●
238. 53764564 c.2377G>A p.E793K missense 0.00000843●●●●●●
239. 53765180 c.2466+7A>G splice site 0.00000839●●●●●●
240. 53765176 c.2466+3A>G splice site 0.00000838●●●●●●
241. 53765169 c.2462A>T p.N821I missense 0.00000837●●●●●●
242. 53765165 c.2458G>A p.D820N missense 0.00000836●●●●●●
243. 53529219 c.26A>C p.K9T missense 0.00000834●●●●●●
244. 53845335 c.6448C>A p.L2150I missense 0.00000834●●●●●●
245. 53529233 c.40C>T p.R14W missense 0.00000833●●●●●●
246. 53529259 c.66C>G p.N22K missense 0.00000833●●●●●●
247. 53529222 c.29T>C p.M10T missense 0.00000833●●●●●●
248. 53529234 c.41G>A p.R14Q missense 0.00000833●●●●●●
249. 53529223 c.30G>A p.M10I missense 0.00000833●●●●●●
250. 53764553 c.2366C>T p.A789V missense 0.00000833●●●●●●
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503. 53684867 c.545C>T p.A182V missense 0.00000824●●●●●●
504. 53785803 c.3604G>A p.A1202T missense 0.00000824●●●●●●
505. 53781321 c.3228-8C>G splice site 0.00000824●●●●●●
506. 53810682 c.4475G>A p.R1492Q missense 0.00000824●●●●●●
507. 53783377 c.3457A>T p.I1153F missense 0.00000824●●●●●●
508. 53769470 c.2751G>A p.M917I missense 0.00000824●●●●●●
509. 53810075 c.4422+3A>G splice site 0.00000824●●●●●●
510. 53531346 c.235T>A p.S79T missense 0.00000824●●●●●●
511. 53736700 c.1253C>G p.A418G missense 0.00000824●●●●●●
512. 53835299 c.5315C>A p.T1772N missense 0.00000824●●●●●●
513. 53781439 c.3338C>T p.A1113V missense 0.00000824●●●●●●
514. 53766100 c.2524G>A p.D842N missense 0.00000824●●●●●●
515. 53785772 c.3577-4G>C splice site 0.00000824●●●●●●
516. 53804452 c.3977A>G p.N1326S missense 0.00000824●●●●●●
517. 53781357 c.3256G>T p.D1086Y missense 0.00000824●●●●●●
518. 53845233 c.6346A>T p.I2116F missense 0.00000824●●●●●●
519. 53804003 c.3934A>G p.T1312A missense 0.00000824●●●●●●
520. 53781339 c.3238A>G p.I1080V missense 0.00000824●●●●●●
521. 53736792 c.1345G>A p.D449N missense 0.00000824●●●●●●
522. 53778801 c.3013G>T p.V1005F missense 0.00000824●●●●●●
523. 53757961 c.2095G>T p.D699Y missense 0.00000824●●●●●●
524. 53707758 c.1135T>A p.W379R missense 0.00000824●●●●●●
525. 53845136 c.6253-4A>G splice site 0.00000824●●●●●●
526. 53757484 c.1750G>A p.A584T missense 0.00000824●●●●●●
527. 53699767 c.847A>C p.I283L missense 0.00000824●●●●●●
528. 53837467 c.5513A>C p.E1838A missense 0.00000824●●●●●●
529. 53814089 c.4684G>A p.G1562R missense 0.00000824●●●●●●
530. 53785876 c.3677C>T p.P1226L missense 0.00000824●●●●●●
531. 53810928 c.4592G>A p.R1531H missense 0.00000824●●●●●●
532. 53785803 c.3604G>T p.A1202S missense 0.00000824●●●●●●
533. 53757559 c.1825C>T p.R609W missense 0.00000824●●●●●●
534. 53700368 c.922A>G p.I308V missense 0.00000824●●●●●●
535. 53809992 c.4342A>G p.N1448D missense 0.00000824●●●●●●
536. 53766914 c.2606C>T p.S869L missense 0.00000824●●●●●●
537. 53756364 c.1589G>A p.R530Q missense 0.00000824●●●●●●
538. 53753784 c.1541A>G p.Q514R missense 0.00000824●●●●●●
539. 53535703 c.439A>G p.I147V missense 0.00000824●●●●●●
540. 53835365 c.5381T>A p.I1794N missense 0.00000824●●●●●●
541. 53781384 c.3283C>T p.R1095W missense 0.00000824●●●●●●
542. 53845266 c.6379C>T p.L2127F missense 0.00000824●●●●●●
543. 53752370 c.1433A>G p.N478S missense 0.00000824●●●●●●
544. 53531321 c.210C>G p.S70R missense 0.00000824●●●●●●
545. 53845206 c.6319G>A p.E2107K missense 0.00000824●●●●●●
546. 53808629 c.4186G>T p.A1396S missense 0.00000824●●●●●●
547. 53835116 c.5132A>G p.N1711S missense 0.00000824●●●●●●
548. 53804533 c.4058G>T p.G1353V missense 0.00000824●●●●●●
549. 53760912 c.2167A>G p.T723A missense 0.00000824●●●●●●
550. 53736703 c.1256G>A p.R419Q missense 0.00000824●●●●●●
551. 53834324 c.5032A>G p.I1678V missense 0.00000824●●●●●●
552. 53834315 c.5023C>T p.R1675W missense 0.00000824●●●●●●
553. 53796098 c.3920G>A p.S1307N missense 0.00000824●●●●●●
554. 53760973 c.2228C>T p.S743F missense 0.00000824●●●●●●
555. 53814134 c.4729G>T p.A1577S missense 0.00000824●●●●●●
556. 53837535 c.5581G>T p.G1861W missense 0.00000824●●●●●●
557. 53837508 c.5554G>T p.G1852C missense 0.00000824●●●●●●
558. 53787619 c.3756G>A p.M1252I missense 0.00000824●●●●●●
559. 53777144 c.2978A>G p.Q993R missense 0.00000824●●●●●●
560. 53757881 c.2015C>G p.S672W missense 0.00000824●●●●●●
561. 53753814 c.1565+6T>C splice site 0.00000824●●●●●●
562. 53777048 c.2882T>G p.F961C missense 0.00000824●●●●●●
563. 53757820 c.1954C>T p.H652Y missense 0.00000824●●●●●●
564. 53700470 c.1024G>A p.G342R missense 0.00000824●●●●●●
565. 53752323 c.1391-5C>T splice site 0.00000824●●●●●●
566. 53837540 c.5586G>C p.E1862D missense 0.00000824●●●●●●
567. 53820882 c.4886C>G p.T1629S missense 0.00000824●●●●●●
568. 53769480 c.2761G>A p.A921T missense 0.00000824●●●●●●
569. 53810080 c.4422+8A>C splice site 0.00000824●●●●●●
570. 53769430 c.2711A>G p.N904S missense 0.00000824●●●●●●
571. 53757464 c.1730T>C p.I577T missense 0.00000824●●●●●●
572. 53835170 c.5186G>A p.R1729H missense 0.00000824●●●●●●
573. 53815667 c.4825C>A p.L1609I missense 0.00000824●●●●●●
574. 53836179 c.5474G>A p.R1825H missense 0.00000824●●●●●●
575. 53783380 c.3460A>G p.I1154V missense 0.00000824●●●●●●
576. 53760981 c.2236A>G p.M746V missense 0.00000824●●●●●●
577. 53835340 c.5356G>A p.A1786T missense 0.00000824●●●●●●
578. 53736723 c.1276C>T p.R426W missense 0.00000824●●●●●●
579. 53835314 c.5330A>G p.N1777S missense 0.00000824●●●●●●
580. 53808657 c.4214G>A p.R1405K missense 0.00000824●●●●●●
581. 53766889 c.2581G>A p.A861T missense 0.00000824●●●●●●
582. 53781420 c.3319G>A p.V1107I missense 0.00000824●●●●●●
583. 53834383 c.5091T>G p.D1697E missense 0.00000824●●●●●●
584. 53804462 c.3987G>C p.E1329D missense 0.00000824●●●●●●
585. 53781378 c.3277C>G p.R1093G missense 0.00000824●●●●●●
586. 53781349 c.3248A>C p.K1083T missense 0.00000824●●●●●●
587. 53752328 c.1391C>T p.T464I missense 0.00000824●●●●●●
588. 53845165 c.6278G>A p.R2093H missense 0.00000824●●●●●●
589. 53787654 c.3791T>A p.F1264Y missense 0.00000824●●●●●●
590. 53779654 c.3070G>A p.V1024M missense 0.00000824●●●●●●
591. 53757964 c.2098G>A p.E700K missense 0.00000824●●●●●●
592. 53707761 c.1138G>A p.E380K missense 0.00000824●●●●●●
593. 53839103 c.5739C>A p.D1913E missense 0.00000824●●●●●●
594. 53707745 c.1122T>G p.N374K missense 0.00000824●●●●●●
595. 53787702 c.3839A>G p.K1280R missense 0.00000824●●●●●●
596. 53700399 c.953C>T p.A318V missense 0.00000824●●●●●●
597. 53699682 c.767-5C>T splice site 0.00000824●●●●●●
598. 53699784 c.864A>G p.I288M missense 0.00000824●●●●●●
599. 53837478 c.5524A>G p.T1842A missense 0.00000824●●●●●●
600. 53774340 c.2845A>G p.I949V missense 0.00000824●●●●●●
601. 53757581 c.1847G>A p.C616Y 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.