COL5A2 missense variants in ExAC

COL5A2 gene summary
COL5A2 variants in

The table below lists the COL5A2 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. 189932764 c.1378C>T p.P460S missense 0.03241008●●●●●●
2. 189940142 c.1081A>C p.M361L missense 0.01831738●●●●●●
3. 189931144 c.1535T>C p.V512A missense 0.01823110●●●●●●
4. 189918622 c.2498C>T p.P833L missense 0.01766122●●●●●●
5. 189904234 c.3689C>G p.T1230R missense 0.00463531●●●●●●
6. 189932742 c.1400C>T p.P467L missense 0.00277985●●●●●●
7. 189914122 c.3098C>T p.P1033L missense 0.00261042●●●●●●
8. 189932953 c.1301C>T p.T434M missense 0.00180473●●●●●●
9. 189926308 c.2011C>T p.P671S missense 0.00155180●●●●●●
10. 189899755 c.4240G>A p.D1414N missense 0.00098866●●●●●●
11. 189916110 c.2867G>C p.R956P missense 0.00083274●●●●●●
12. 189931456 c.1454C>A p.P485Q missense 0.00055373●●●●●●
13. 189922092 c.2291C>G p.P764R missense 0.00055297●●●●●●
14. 189909952 c.3316C>T p.R1106W missense 0.00049825●●●●●●
15. 189899700 c.4295A>T p.D1432V missense 0.00049447●●●●●●
16. 189927592 c.1976C>T p.P659L missense 0.00047852●●●●●●
17. 189898846 c.4450G>A p.G1484S missense 0.00033840●●●●●●
18. 189901388 c.4067A>G p.D1356G missense 0.00027390●●●●●●
19. 189907941 c.3407G>A p.R1136Q missense 0.00024966●●●●●●
20. 189931477 c.1433A>T p.E478V missense 0.00024792●●●●●●
21. 189929777 c.1570C>T p.P524S missense 0.00024567●●●●●●
22. 189904195 c.3728G>A p.S1243N missense 0.00023192●●●●●●
23. 189916125 c.2852G>A p.G951E missense 0.00022288●●●●●●
24. 189915387 c.2947C>T p.P983S missense 0.00019474●●●●●●
25. 189929366 c.1633C>T p.R545W missense 0.00016624●●●●●●
26. 189916093 c.2884C>A p.P962T missense 0.00016482●●●●●●
27. 189916123 c.2854C>T p.R952C missense 0.00015684●●●●●●
28. 189918922 c.2408T>C p.L803S missense 0.00015674●●●●●●
29. 189949935 c.749C>T p.P250L missense 0.00014528●●●●●●
30. 189915371 c.2963C>T p.T988M missense 0.00014486●●●●●●
31. 189898801 c.4495G>T p.V1499L missense 0.00013194●●●●●●
32. 189948711 c.851C>T p.P284L missense 0.00013194●●●●●●
33. 189932791 c.1351T>C p.S451P missense 0.00012371●●●●●●
34. 189975010 c.263C>A p.P88H missense 0.00012357●●●●●●
35. 189923588 c.2117C>T p.P706L missense 0.00011659●●●●●●
36. 189916131 c.2846C>G p.S949C missense 0.00011565●●●●●●
37. 189932993 c.1261G>A p.A421T missense 0.00011550●●●●●●
38. 189916926 c.2741C>T p.A914V missense 0.00010714●●●●●●
39. 189906332 c.3613G>A p.V1205I missense 0.00010708●●●●●●
40. 189918628 c.2492G>C p.G831A missense 0.00010269●●●●●●
41. 189898938 c.4358G>A p.R1453Q missense 0.00009946●●●●●●
42. 189907483 c.3488A>G p.Q1163R missense 0.00009917●●●●●●
43. 189904129 c.3794A>G p.D1265G missense 0.00009897●●●●●●
44. 189915296 c.3038C>T p.A1013V missense 0.00009686●●●●●●
45. 189898934 c.4362T>A p.N1454K missense 0.00009112●●●●●●
46. 189910626 c.3209G>A p.R1070H missense 0.00008274●●●●●●
47. 189927746 c.1913C>T p.P638L missense 0.00008263●●●●●●
48. 189904132 c.3791C>T p.T1264M missense 0.00008249●●●●●●
49. 189907963 c.3385G>A p.D1129N missense 0.00007566●●●●●●
50. 189918907 c.2423C>T p.P808L missense 0.00007423●●●●●●
51. 189907941 c.3407G>T p.R1136L missense 0.00006658●●●●●●
52. 189916095 c.2882C>T p.P961L missense 0.00006593●●●●●●
53. 189932962 c.1292A>G p.K431R missense 0.00006593●●●●●●
54. 189962022 c.437G>A p.R146Q missense 0.00006592●●●●●●
55. 189906331 c.3614T>C p.V1205A missense 0.00006590●●●●●●
56. 189975040 c.233A>T p.D78V missense 0.00006590●●●●●●
57. 189904265 c.3658C>T p.P1220S missense 0.00006020●●●●●●
58. 189923594 c.2111T>C p.V704A missense 0.00005823●●●●●●
59. 189912966 c.3170C>A p.T1057N missense 0.00005782●●●●●●
60. 189916122 c.2855G>A p.R952H missense 0.00005777●●●●●●
61. 189943280 c.1021C>T p.P341S missense 0.00005767●●●●●●
62. 189914156 c.3064A>C p.T1022P missense 0.00005619●●●●●●
63. 189907936 c.3412G>A p.D1138N missense 0.00005036●●●●●●
64. 189933543 c.1226C>T p.P409L missense 0.00005019●●●●●●
65. 189923613 c.2092C>T p.P698S missense 0.00004996●●●●●●
66. 189929341 c.1658C>T p.P553L missense 0.00004978●●●●●●
67. 189943809 c.985A>G p.M329V missense 0.00004971●●●●●●
68. 189904190 c.3733C>T p.P1245S missense 0.00004970●●●●●●
69. 189910627 c.3208C>T p.R1070C missense 0.00004967●●●●●●
70. 189931498 c.1412G>C p.G471A missense 0.00004963●●●●●●
71. 189912958 c.3178C>T p.R1060W missense 0.00004955●●●●●●
72. 189910527 c.3308C>T p.P1103L missense 0.00004951●●●●●●
73. 189922120 c.2263A>C p.T755P missense 0.00004947●●●●●●
74. 189932832 c.1310C>T p.P437L missense 0.00004946●●●●●●
75. 189953479 c.587C>A p.A196D missense 0.00004944●●●●●●
76. 189904043 c.3880C>T p.R1294C missense 0.00004943●●●●●●
77. 189915323 c.3011G>A p.R1004K missense 0.00004821●●●●●●
78. 189918632 c.2488C>T p.R830W missense 0.00004262●●●●●●
79. 189904247 c.3676C>T p.P1226S missense 0.00004236●●●●●●
80. 189927992 c.1775C>G p.A592G missense 0.00004158●●●●●●
81. 189927974 c.1793G>A p.R598H missense 0.00004143●●●●●●
82. 189918170 c.2533G>A p.V845I missense 0.00004133●●●●●●
83. 189904148 c.3775G>A p.D1259N missense 0.00004128●●●●●●
84. 189904010 c.3913G>A p.A1305T missense 0.00004120●●●●●●
85. 189974989 c.284T>A p.V95D missense 0.00004119●●●●●●
86. 189943281 c.1020G>A p.M340I missense 0.00004119●●●●●●
87. 190044330 c.1A>G p.M1V missense 0.00004095●●●●●●
88. 190044326 c.5T>C p.M2T missense 0.00003969●●●●●●
89. 189957139 c.464G>A p.R155H missense 0.00003791●●●●●●
90. 189907975 c.3373G>A p.G1125R missense 0.00003419●●●●●●
91. 189918652 c.2468T>C p.L823S missense 0.00003407●●●●●●
92. 189918649 c.2471T>C p.V824A missense 0.00003404●●●●●●
93. 189963472 c.383G>A p.R128H missense 0.00003318●●●●●●
94. 189917479 c.2711C>T p.P904L missense 0.00003313●●●●●●
95. 189927953 c.1814T>C p.I605T missense 0.00003308●●●●●●
96. 189912937 c.3199C>T p.R1067C missense 0.00003307●●●●●●
97. 189923214 c.2170A>G p.I724V missense 0.00003299●●●●●●
98. 189899670 c.4325G>A p.R1442Q missense 0.00003299●●●●●●
99. 189916110 c.2867G>A p.R956Q missense 0.00003298●●●●●●
100. 189904004 c.3919C>G p.Q1307E missense 0.00003297●●●●●●
101. 189931201 c.1478C>T p.P493L missense 0.00003296●●●●●●
102. 189975106 c.167C>T p.P56L missense 0.00003296●●●●●●
103. 189904042 c.3881G>A p.R1294H missense 0.00003295●●●●●●
104. 189975035 c.238C>G p.L80V missense 0.00003295●●●●●●
105. 189907882 c.3466C>T p.P1156S missense 0.00002827●●●●●●
106. 189957067 c.536C>T p.P179L missense 0.00002766●●●●●●
107. 189914149 c.3071C>T p.A1024V missense 0.00002764●●●●●●
108. 189951493 c.649C>T p.P217S missense 0.00002625●●●●●●
109. 189909925 c.3343G>C p.A1115P missense 0.00002579●●●●●●
110. 189918631 c.2489G>A p.R830Q missense 0.00002560●●●●●●
111. 189907968 c.3380G>A p.R1127H missense 0.00002535●●●●●●
112. 189907926 c.3422A>C p.Q1141P missense 0.00002528●●●●●●
113. 189904234 c.3689C>T p.T1230I missense 0.00002519●●●●●●
114. 189929378 c.1621G>T p.A541S missense 0.00002501●●●●●●
115. 189929284 c.1715G>A p.R572Q missense 0.00002497●●●●●●
116. 189901370 c.4085A>G p.Y1362C missense 0.00002493●●●●●●
117. 189963457 c.398C>T p.P133L missense 0.00002485●●●●●●
118. 189950492 c.697G>A p.A233T missense 0.00002482●●●●●●
119. 189940147 c.1076A>G p.H359R missense 0.00002480●●●●●●
120. 189918169 c.2534T>C p.V845A missense 0.00002480●●●●●●
121. 189918196 c.2507G>A p.R836Q missense 0.00002479●●●●●●
122. 189945766 c.856G>A p.A286T missense 0.00002478●●●●●●
123. 189904156 c.3767C>T p.A1256V missense 0.00002478●●●●●●
124. 189945717 c.905G>C p.R302P missense 0.00002476●●●●●●
125. 189944718 c.946G>A p.A316T missense 0.00002476●●●●●●
126. 189945739 c.883C>T p.L295F missense 0.00002476●●●●●●
127. 189945720 c.902A>G p.H301R missense 0.00002476●●●●●●
128. 189927608 c.1960G>A p.G654S missense 0.00002474●●●●●●
129. 189931216 c.1463A>G p.H488R missense 0.00002473●●●●●●
130. 189899688 c.4307A>G p.E1436G missense 0.00002473●●●●●●
131. 189953497 c.569C>T p.P190L missense 0.00002472●●●●●●
132. 189974974 c.299C>G p.P100R missense 0.00002471●●●●●●
133. 190044267 c.64G>A p.V22I missense 0.00002036●●●●●●
134. 190044245 c.86A>G p.E29G missense 0.00002033●●●●●●
135. 189957140 c.463C>T p.R155C missense 0.00002013●●●●●●
136. 189914098 c.3122G>C p.G1041A missense 0.00001940●●●●●●
137. 189914101 c.3119A>G p.N1040S missense 0.00001914●●●●●●
138. 189914129 c.3091C>T p.P1031S missense 0.00001813●●●●●●
139. 189957038 c.565A>T p.R189W missense 0.00001780●●●●●●
140. 189904277 c.3646G>A p.E1216K missense 0.00001757●●●●●●
141. 189909915 c.3353G>A p.R1118H missense 0.00001744●●●●●●
142. 189909951 c.3317G>A p.R1106Q missense 0.00001717●●●●●●
143. 189909927 c.3341G>A p.R1114Q missense 0.00001717●●●●●●
144. 189909943 c.3325A>G p.I1109V missense 0.00001712●●●●●●
145. 189916177 c.2800G>C p.E934Q missense 0.00001702●●●●●●
146. 189918644 c.2476C>T p.P826S missense 0.00001700●●●●●●
147. 189928711 c.1765C>T p.P589S missense 0.00001693●●●●●●
148. 189901350 c.4105G>C p.G1369R missense 0.00001681●●●●●●
149. 189929374 c.1625A>T p.Q542L missense 0.00001665●●●●●●
150. 189929285 c.1714C>T p.R572W missense 0.00001665●●●●●●
151. 189925457 c.2084A>C p.Q695P missense 0.00001664●●●●●●
152. 189923601 c.2104G>A p.G702R missense 0.00001663●●●●●●
153. 189927992 c.1775C>T p.A592V missense 0.00001663●●●●●●
154. 189963479 c.376G>A p.G126S missense 0.00001662●●●●●●
155. 189901379 c.4076C>T p.P1359L missense 0.00001660●●●●●●
156. 189916147 c.2830C>T p.R944C missense 0.00001660●●●●●●
157. 189917723 c.2575G>A p.V859I missense 0.00001659●●●●●●
158. 189898939 c.4357C>T p.R1453W missense 0.00001658●●●●●●
159. 189963467 c.388C>T p.R130C missense 0.00001658●●●●●●
160. 189963466 c.389G>A p.R130H missense 0.00001658●●●●●●
161. 189963455 c.400G>T p.A134S missense 0.00001657●●●●●●
162. 189927971 c.1796C>T p.P599L missense 0.00001657●●●●●●
163. 189898927 c.4369G>A p.V1457M missense 0.00001656●●●●●●
164. 189904196 c.3727A>T p.S1243C missense 0.00001656●●●●●●
165. 189940121 c.1102A>G p.M368V missense 0.00001656●●●●●●
166. 189943830 c.964G>A p.E322K missense 0.00001655●●●●●●
167. 189917522 c.2668A>G p.N890D missense 0.00001654●●●●●●
168. 189917657 c.2641G>A p.A881T missense 0.00001654●●●●●●
169. 189912936 c.3200G>A p.R1067H missense 0.00001654●●●●●●
170. 189917665 c.2633A>G p.Q878R missense 0.00001653●●●●●●
171. 189918196 c.2507G>C p.R836P missense 0.00001653●●●●●●
172. 189940142 c.1081A>G p.M361V missense 0.00001653●●●●●●
173. 189922081 c.2302G>A p.G768R missense 0.00001652●●●●●●
174. 189912967 c.3169A>G p.T1057A missense 0.00001652●●●●●●
175. 189945763 c.859C>T p.R287C missense 0.00001652●●●●●●
176. 189923156 c.2228A>C p.K743T missense 0.00001652●●●●●●
177. 189927741 c.1918C>G p.Q640E missense 0.00001652●●●●●●
178. 189927911 c.1856C>A p.P619H missense 0.00001652●●●●●●
179. 189927905 c.1862G>A p.G621D missense 0.00001651●●●●●●
180. 189898845 c.4451G>A p.G1484D missense 0.00001650●●●●●●
181. 189899649 c.4346C>A p.T1449N missense 0.00001650●●●●●●
182. 189922129 c.2254C>T p.P752S missense 0.00001649●●●●●●
183. 189899663 c.4332C>G p.I1444M missense 0.00001649●●●●●●
184. 189898825 c.4471G>A p.V1491I missense 0.00001649●●●●●●
185. 189899832 c.4163C>G p.T1388S missense 0.00001649●●●●●●
186. 189923223 c.2161G>A p.E721K missense 0.00001649●●●●●●
187. 189931216 c.1463A>C p.H488P missense 0.00001649●●●●●●
188. 189899679 c.4316T>C p.I1439T missense 0.00001649●●●●●●
189. 189923184 c.2200G>A p.A734T missense 0.00001649●●●●●●
190. 189923228 c.2156G>A p.R719K missense 0.00001649●●●●●●
191. 189899662 c.4333G>A p.V1445I missense 0.00001649●●●●●●
192. 189931220 c.1459C>T p.P487S missense 0.00001649●●●●●●
193. 189916096 c.2881C>T p.P961S missense 0.00001648●●●●●●
194. 189974971 c.302G>A p.G101E missense 0.00001648●●●●●●
195. 189906378 c.3567C>A p.N1189K missense 0.00001648●●●●●●
196. 189953497 c.569C>A p.P190Q missense 0.00001648●●●●●●
197. 189931187 c.1492G>A p.G498S missense 0.00001648●●●●●●
198. 189904076 c.3847C>T p.R1283C missense 0.00001648●●●●●●
199. 189932835 c.1307C>T p.S436F missense 0.00001648●●●●●●
200. 189957043 c.560T>G p.L187W missense 0.00001642●●●●●●
201. 189957049 c.554A>G p.D185G missense 0.00001544●●●●●●
202. 189957050 c.553G>A p.D185N missense 0.00001537●●●●●●
203. 189957064 c.539C>A p.S180Y missense 0.00001394●●●●●●
204. 190044320 c.11A>C p.N4T missense 0.00001260●●●●●●
205. 190044315 c.16G>A p.A6T missense 0.00001216●●●●●●
206. 190044315 c.16G>T p.A6S missense 0.00001216●●●●●●
207. 190044297 c.34C>T p.L12F missense 0.00001098●●●●●●
208. 190044294 c.37A>G p.I13V missense 0.00001089●●●●●●
209. 189907478 c.3493A>G p.S1165G missense 0.00001088●●●●●●
210. 189907474 c.3497C>G p.A1166G missense 0.00001084●●●●●●
211. 189907469 c.3502A>T p.I1168F missense 0.00001079●●●●●●
212. 190044287 c.44T>C p.I15T missense 0.00001064●●●●●●
213. 189936805 c.1119A>G p.I373M missense 0.00001047●●●●●●
214. 190044275 c.56G>A p.G19E missense 0.00001033●●●●●●
215. 190044243 c.88G>A p.D30N missense 0.00001021●●●●●●
216. 189949924 c.760C>T p.R254C missense 0.00000989●●●●●●
217. 189949923 c.761G>A p.R254H missense 0.00000986●●●●●●
218. 189914167 c.3053A>G p.K1018R missense 0.00000976●●●●●●
219. 189949918 c.766C>G p.P256A missense 0.00000971●●●●●●
220. 189914098 c.3122G>A p.G1041D missense 0.00000970●●●●●●
221. 189949917 c.767C>G p.P256R missense 0.00000969●●●●●●
222. 189914099 c.3121G>A p.G1041S missense 0.00000966●●●●●●
223. 189949886 c.798T>A p.D266E missense 0.00000945●●●●●●
224. 189914156 c.3064A>T p.T1022S missense 0.00000937●●●●●●
225. 189914158 c.3062C>T p.P1021L missense 0.00000937●●●●●●
226. 189914139 c.3081T>A p.D1027E missense 0.00000909●●●●●●
227. 189916207 c.2770G>A p.G924R missense 0.00000907●●●●●●
228. 189907891 c.3457C>A p.L1153I missense 0.00000903●●●●●●
229. 189909906 c.3362C>T p.P1121L missense 0.00000895●●●●●●
230. 189909907 c.3361C>T p.P1121S missense 0.00000892●●●●●●
231. 189916194 c.2783C>T p.P928L missense 0.00000876●●●●●●
232. 189916191 c.2786C>T p.A929V missense 0.00000873●●●●●●
233. 189904274 c.3649C>T p.P1217S missense 0.00000873●●●●●●
234. 189909918 c.3350A>T p.K1117I missense 0.00000866●●●●●●
235. 189907903 c.3445G>C p.G1149R missense 0.00000865●●●●●●
236. 189929759 c.1588C>T p.P530S missense 0.00000865●●●●●●
237. 189907981 c.3367C>A p.P1123T missense 0.00000863●●●●●●
238. 189929740 c.1607C>G p.P536R missense 0.00000863●●●●●●
239. 189907905 c.3443C>T p.T1148I missense 0.00000862●●●●●●
240. 189929752 c.1595C>A p.S532Y missense 0.00000862●●●●●●
241. 189909952 c.3316C>G p.R1106G missense 0.00000859●●●●●●
242. 189909941 c.3327A>G p.I1109M missense 0.00000856●●●●●●
243. 189904255 c.3668C>T p.P1223L missense 0.00000853●●●●●●
244. 189918634 c.2486C>T p.S829F missense 0.00000852●●●●●●
245. 189901467 c.3988A>C p.M1330L missense 0.00000852●●●●●●
246. 189933588 c.1181C>T p.A394V missense 0.00000850●●●●●●
247. 189901460 c.3995C>T p.T1332I missense 0.00000849●●●●●●
248. 189901455 c.4000G>A p.E1334K missense 0.00000846●●●●●●
249. 189928714 c.1762G>A p.G588R missense 0.00000845●●●●●●
250. 189901349 c.4106G>A p.G1369E missense 0.00000841●●●●●●
251. 189907962 c.3386A>T p.D1129V missense 0.00000840●●●●●●
252. 189901350 c.4105G>A p.G1369R missense 0.00000840●●●●●●
253. 189904235 c.3688A>T p.T1230S missense 0.00000840●●●●●●
254. 189928738 c.1738G>A p.V580I missense 0.00000839●●●●●●
255. 189928746 c.1730A>T p.N577I missense 0.00000839●●●●●●
256. 189928747 c.1729A>T p.N577Y missense 0.00000839●●●●●●
257. 189901435 c.4020C>A p.N1340K missense 0.00000838●●●●●●
258. 189901428 c.4027A>G p.S1343G missense 0.00000837●●●●●●
259. 189907958 c.3390A>C p.K1130N missense 0.00000837●●●●●●
260. 189933544 c.1225C>G p.P409A missense 0.00000836●●●●●●
261. 189901427 c.4028G>A p.S1343N missense 0.00000836●●●●●●
262. 189933532 c.1237G>A p.V413I missense 0.00000836●●●●●●
263. 189907953 c.3395A>G p.D1132G missense 0.00000836●●●●●●
264. 189933540 c.1229C>T p.P410L missense 0.00000836●●●●●●
265. 189907957 c.3391G>T p.G1131C missense 0.00000836●●●●●●
266. 189901358 c.4097T>C p.M1366T missense 0.00000834●●●●●●
267. 189901418 c.4037G>A p.R1346H missense 0.00000834●●●●●●
268. 189901419 c.4036C>G p.R1346G missense 0.00000834●●●●●●
269. 189917729 c.2569C>G p.P857A missense 0.00000833●●●●●●
270. 189923604 c.2101C>T p.P701S missense 0.00000832●●●●●●
271. 189901367 c.4088G>A p.G1363D missense 0.00000832●●●●●●
272. 189923595 c.2110G>A p.V704I missense 0.00000832●●●●●●
273. 189963484 c.371T>C p.V124A missense 0.00000832●●●●●●
274. 189901365 c.4090C>A p.L1364I missense 0.00000832●●●●●●
275. 189929363 c.1636G>A p.G546S missense 0.00000831●●●●●●
276. 189929353 c.1646G>T p.G549V missense 0.00000831●●●●●●
277. 189904213 c.3710T>C p.M1237T missense 0.00000831●●●●●●
278. 189927989 c.1778C>T p.P593L missense 0.00000831●●●●●●
279. 189927990 c.1777C>T p.P593S missense 0.00000831●●●●●●
280. 189918150 c.2553G>C p.Q851H missense 0.00000831●●●●●●
281. 189929365 c.1634G>A p.R545Q missense 0.00000831●●●●●●
282. 189927989 c.1778C>G p.P593R missense 0.00000831●●●●●●
283. 189929351 c.1648T>A p.S550T missense 0.00000830●●●●●●
284. 189904207 c.3716A>G p.H1239R missense 0.00000830●●●●●●
285. 189943790 c.1004T>A p.L335Q missense 0.00000830●●●●●●
286. 189929321 c.1678C>A p.P560T missense 0.00000830●●●●●●
287. 189904204 c.3719A>G p.Y1240C missense 0.00000830●●●●●●
288. 189929354 c.1645G>A p.G549S missense 0.00000830●●●●●●
289. 189927980 c.1787A>G p.D596G missense 0.00000830●●●●●●
290. 189910632 c.3203G>A p.G1068D missense 0.00000830●●●●●●
291. 189929311 c.1688C>T p.P563L missense 0.00000830●●●●●●
292. 189964841 c.361G>C p.V121L missense 0.00000829●●●●●●
293. 189925475 c.2066G>A p.G689D missense 0.00000829●●●●●●
294. 189943805 c.989G>A p.G330D missense 0.00000829●●●●●●
295. 189916146 c.2831G>A p.R944H missense 0.00000829●●●●●●
296. 189964838 c.364C>T p.P122S missense 0.00000829●●●●●●
297. 189904191 c.3732G>A p.M1244I missense 0.00000828●●●●●●
298. 189969000 c.326G>A p.R109K missense 0.00000828●●●●●●
299. 189963457 c.398C>G p.P133R missense 0.00000828●●●●●●
300. 189898924 c.4372G>A p.G1458S missense 0.00000828●●●●●●
301. 189944754 c.910C>T p.H304Y missense 0.00000827●●●●●●
302. 189917498 c.2692G>A p.G898S missense 0.00000827●●●●●●
303. 189912937 c.3199C>A p.R1067S missense 0.00000827●●●●●●
304. 189917701 c.2597C>T p.P866L missense 0.00000827●●●●●●
305. 189927761 c.1898G>A p.G633E missense 0.00000827●●●●●●
306. 189917703 c.2595G>C p.E865D missense 0.00000827●●●●●●
307. 189898894 c.4402A>C p.N1468H missense 0.00000827●●●●●●
308. 189940156 c.1067G>A p.R356Q missense 0.00000827●●●●●●
309. 189904172 c.3751T>C p.F1251L missense 0.00000827●●●●●●
310. 189932743 c.1399C>T p.P467S missense 0.00000827●●●●●●
311. 189898894 c.4402A>G p.N1468D missense 0.00000827●●●●●●
312. 189918203 c.2500G>T p.G834C missense 0.00000827●●●●●●
313. 189912982 c.3154G>T p.A1052S missense 0.00000827●●●●●●
314. 189904186 c.3737A>G p.D1246G missense 0.00000827●●●●●●
315. 189950494 c.695G>A p.G232D missense 0.00000827●●●●●●
316. 189898884 c.4412G>A p.R1471H missense 0.00000826●●●●●●
317. 189923159 c.2225C>G p.P742R missense 0.00000826●●●●●●
318. 189927914 c.1853G>A p.G618D missense 0.00000826●●●●●●
319. 189950450 c.739C>T p.P247S missense 0.00000826●●●●●●
320. 189918199 c.2504C>G p.S835C missense 0.00000826●●●●●●
321. 189927738 c.1921A>G p.R641G missense 0.00000826●●●●●●
322. 189917675 c.2623C>T p.P875S missense 0.00000826●●●●●●
323. 189916128 c.2849A>G p.H950R missense 0.00000826●●●●●●
324. 189931457 c.1453C>T p.P485S missense 0.00000826●●●●●●
325. 189927911 c.1856C>G p.P619R missense 0.00000826●●●●●●
326. 189923160 c.2224C>G p.P742A missense 0.00000826●●●●●●
327. 189912969 c.3167G>A p.G1056D missense 0.00000826●●●●●●
328. 189912940 c.3196G>A p.E1066K missense 0.00000826●●●●●●
329. 189904145 c.3778G>T p.D1260Y missense 0.00000826●●●●●●
330. 189918197 c.2506C>G p.R836G missense 0.00000826●●●●●●
331. 189927917 c.1850C>G p.P617R missense 0.00000826●●●●●●
332. 189918194 c.2509G>A p.G837S missense 0.00000826●●●●●●
333. 189975154 c.119C>A p.A40D missense 0.00000826●●●●●●
334. 189917684 c.2614G>T p.A872S missense 0.00000826●●●●●●
335. 189931459 c.1451A>G p.E484G missense 0.00000826●●●●●●
336. 189912957 c.3179G>A p.R1060Q missense 0.00000826●●●●●●
337. 189927935 c.1832C>T p.P611L missense 0.00000826●●●●●●
338. 189950477 c.712C>T p.P238S missense 0.00000826●●●●●●
339. 189917698 c.2600G>C p.G867A missense 0.00000826●●●●●●
340. 189926334 c.1985C>G p.A662G missense 0.00000826●●●●●●
341. 189931483 c.1427A>G p.K476R missense 0.00000826●●●●●●
342. 189945717 c.905G>A p.R302Q missense 0.00000825●●●●●●
343. 189944708 c.956C>T p.S319F missense 0.00000825●●●●●●
344. 189910608 c.3227C>T p.A1076V missense 0.00000825●●●●●●
345. 189932799 c.1343C>T p.P448L missense 0.00000825●●●●●●
346. 189899857 c.4138C>G p.P1380A missense 0.00000825●●●●●●
347. 189922111 c.2272C>G p.P758A missense 0.00000825●●●●●●
348. 189904138 c.3785A>G p.N1262S missense 0.00000825●●●●●●
349. 189918895 c.2435C>T p.T812I missense 0.00000825●●●●●●
350. 189927613 c.1955C>T p.P652L missense 0.00000825●●●●●●
351. 189927595 c.1973C>T p.P658L missense 0.00000825●●●●●●
352. 189916114 c.2863G>A p.D955N missense 0.00000825●●●●●●
353. 189923241 c.2143A>T p.N715Y missense 0.00000825●●●●●●
354. 189945735 c.887C>A p.P296Q missense 0.00000825●●●●●●
355. 189922092 c.2291C>T p.P764L missense 0.00000825●●●●●●
356. 189932799 c.1343C>G p.P448R missense 0.00000825●●●●●●
357. 189899879 c.4116C>G p.F1372L missense 0.00000825●●●●●●
358. 189948715 c.847T>A p.S283T missense 0.00000825●●●●●●
359. 189898828 c.4468G>A p.G1490S missense 0.00000825●●●●●●
360. 189927614 c.1954C>A p.P652T missense 0.00000825●●●●●●
361. 189927604 c.1964C>G p.P655R missense 0.00000825●●●●●●
362. 189950467 c.722A>G p.E241G missense 0.00000825●●●●●●
363. 189916116 c.2861G>A p.G954E missense 0.00000825●●●●●●
364. 189922093 c.2290C>T p.P764S missense 0.00000825●●●●●●
365. 189922122 c.2261A>T p.D754V missense 0.00000825●●●●●●
366. 189904127 c.3796C>T p.P1266S missense 0.00000825●●●●●●
367. 189932800 c.1342C>A p.P448T missense 0.00000825●●●●●●
368. 189932767 c.1375G>A p.G459S missense 0.00000825●●●●●●
369. 189899671 c.4324C>T p.R1442W missense 0.00000825●●●●●●
370. 189948747 c.815A>G p.N272S missense 0.00000825●●●●●●
371. 189945717 c.905G>T p.R302L missense 0.00000825●●●●●●
372. 189910606 c.3229G>A p.G1077S missense 0.00000825●●●●●●
373. 189932790 c.1352C>T p.S451F missense 0.00000825●●●●●●
374. 189916119 c.2858T>G p.V953G missense 0.00000825●●●●●●
375. 189922110 c.2273C>G p.P758R missense 0.00000825●●●●●●
376. 189945744 c.878C>T p.P293L missense 0.00000825●●●●●●
377. 189922146 c.2237C>T p.P746L missense 0.00000825●●●●●●
378. 189974977 c.296C>T p.T99I missense 0.00000824●●●●●●
379. 189910566 c.3269C>A p.P1090H missense 0.00000824●●●●●●
380. 189904050 c.3873C>G p.H1291Q missense 0.00000824●●●●●●
381. 189953480 c.586G>C p.A196P missense 0.00000824●●●●●●
382. 189927641 c.1927G>A p.A643T missense 0.00000824●●●●●●
383. 189953464 c.602A>C p.K201T missense 0.00000824●●●●●●
384. 189904097 c.3826A>G p.S1276G missense 0.00000824●●●●●●
385. 189975023 c.250G>C p.D84H missense 0.00000824●●●●●●
386. 189975086 c.187G>A p.V63I missense 0.00000824●●●●●●
387. 189943291 c.1010C>T p.P337L missense 0.00000824●●●●●●
388. 189904040 c.3883A>G p.T1295A missense 0.00000824●●●●●●
389. 189916919 c.2748A>T p.R916S missense 0.00000824●●●●●●
390. 189931117 c.1562G>A p.R521K missense 0.00000824●●●●●●
391. 189906313 c.3632A>G p.E1211G missense 0.00000824●●●●●●
392. 189899778 c.4217A>G p.K1406R missense 0.00000824●●●●●●
393. 189974980 c.293A>G p.Q98R missense 0.00000824●●●●●●
394. 189931147 c.1532C>G p.T511R missense 0.00000824●●●●●●
395. 189899816 c.4179A>C p.L1393F missense 0.00000824●●●●●●
396. 189906371 c.3574C>A p.P1192T missense 0.00000824●●●●●●
397. 189904088 c.3835A>G p.I1279V missense 0.00000824●●●●●●
398. 189910567 c.3268C>T p.P1090S missense 0.00000824●●●●●●
399. 189904075 c.3848G>A p.R1283H missense 0.00000824●●●●●●
400. 189916905 c.2762G>C p.G921A missense 0.00000824●●●●●●
401. 189932833 c.1309C>T p.P437S missense 0.00000824●●●●●●
402. 189904100 c.3823C>T p.L1275F missense 0.00000824●●●●●●
403. 189953467 c.599A>C p.E200A missense 0.00000824●●●●●●
404. 189953428 c.638G>C p.G213A missense 0.00000824●●●●●●
405. 189931214 c.1465G>A p.G489S missense 0.00000824●●●●●●
406. 189975088 c.185G>T p.C62F missense 0.00000824●●●●●●
407. 189931129 c.1550C>T p.P517L missense 0.00000824●●●●●●
408. 189943294 c.1007G>C p.G336A missense 0.00000824●●●●●●
409. 189921721 c.2369C>T p.T790I missense 0.00000824●●●●●●
410. 189962017 c.442C>T p.P148S missense 0.00000824●●●●●●
411. 189916923 c.2744G>A p.G915D missense 0.00000824●●●●●●
412. 189899823 c.4172G>A p.R1391H missense 0.00000824●●●●●●
413. 189906379 c.3566A>C p.N1189T missense 0.00000824●●●●●●
414. 189899832 c.4163C>A p.T1388N missense 0.00000824●●●●●●
415. 189899821 c.4174C>T p.L1392F missense 0.00000824●●●●●●
416. 189975011 c.262C>T p.P88S missense 0.00000824●●●●●●
417. 189921752 c.2338G>A p.G780S missense 0.00000824●●●●●●
418. 189943253 c.1048C>G p.Q350E missense 0.00000824●●●●●●
419. 189974968 c.305G>A p.G102D missense 0.00000824●●●●●●
420. 189904024 c.3899A>C p.K1300T missense 0.00000824●●●●●●
421. 189904091 c.3832C>A p.Q1278K missense 0.00000824●●●●●●
422. 189975093 c.180G>T p.Q60H missense 0.00000824●●●●●●
423. 189931135 c.1544C>T p.P515L missense 0.00000824●●●●●●
424. 189916101 c.2876C>G p.A959G missense 0.00000824●●●●●●
425. 189906349 c.3596C>A p.P1199Q missense 0.00000824●●●●●●
426. 189916084 c.2893C>G p.P965A missense 0.00000824●●●●●●
427. 189921748 c.2342G>T p.G781V missense 0.00000824●●●●●●
428. 189974975 c.298C>T p.P100S missense 0.00000824●●●●●●
429. 189904046 c.3877G>T p.A1293S missense 0.00000824●●●●●●
430. 189962032 c.427A>G p.R143G missense 0.00000824●●●●●●
431. 189953498 c.568C>T p.P190S missense 0.00000824●●●●●●
432. 189927640 c.1928C>T p.A643V missense 0.00000824●●●●●●
433. 189916950 c.2717G>A p.G906D missense 0.00000824●●●●●●
434. 189899824 c.4171C>T p.R1391C missense 0.00000824●●●●●●
435. 189931196 c.1483G>A p.G495S missense 0.00000824●●●●●●
436. 189899838 c.4157A>G p.Q1386R missense 0.00000824●●●●●●
437. 189953455 c.611T>G p.L204R missense 0.00000824●●●●●●
438. 189975052 c.221T>G p.I74R missense 0.00000824●●●●●●
439. 189975013 c.260C>T p.T87M missense 0.00000824●●●●●●
440. 189974954 c.319T>C p.F107L missense 0.00000824●●●●●●
441. 189904087 c.3836T>C p.I1279T missense 0.00000824●●●●●●
442. 189932975 c.1279A>G p.T427A missense 0.00000824●●●●●●
443. 189904039 c.3884C>T p.T1295M missense 0.00000824●●●●●●
444. 189953480 c.586G>T p.A196S missense 0.00000824●●●●●●
445. 189899740 c.4255C>T p.L1419F missense 0.00000824●●●●●●
446. 189975103 c.170C>A p.A57D missense 0.00000824●●●●●●
447. 189931147 c.1532C>T p.T511I missense 0.00000824●●●●●●
448. 189923195 c.2189A>T p.E730V missense 0.00000824●●●●●●
449. 189906368 c.3577C>T p.L1193F 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.