LAMA4 variants in ExAC

LAMA4 gene summary
LAMA4 variants in DCM

The table below lists the LAMA4 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. 112508770 c.827C>A p.A276E missense 0.99999176●●●●●●
2. 112457390 c.3328G>A p.G1110S missense 0.76914509●●●●●●
3. 112493872 c.1471T>C p.Y491H missense 0.66491939●●●●●●
4. 112435273 c.5305+6T>G splice site 0.23923374●●●●●●
5. 112457383 c.3335C>G p.P1112R missense 0.22490261●●●●●●
6. 112522852 c.460C>T p.R154W missense 0.05307488●●●●●●
7. 112496511 c.1336+4G>T splice site 0.03149717●●●●●●
8. 112522893 c.423-4T>G splice site 0.01335667●●●●●●
9. 112460365 c.3218G>A p.R1073Q missense 0.00999143●●●●●●
10. 112496690 c.1169-8C>G splice site 0.00961665●●●●●●
11. 112537586 c.280G>A p.G94S missense 0.00555601●●●●●●
12. 112430669 c.5422G>A p.V1808I missense 0.00522271●●●●●●
13. 112441505 c.4625A>G p.N1542S missense 0.00486560●●●●●●
14. 112522899 c.423-10C>T splice site 0.00461495●●●●●●
15. 112493889 c.1454T>A p.L485H missense 0.00276093●●●●●●
16. 112486397 c.1612C>T p.R538C missense 0.00161471●●●●●●
17. 112575268 c.85G>C p.D29H missense 0.00157228●●●●●●
18. 112512915 c.641G>A p.R214H missense 0.00133093●●●●●●
19. 112462563 c.2789A>G p.E930G missense 0.00119434●●●●●●
20. 112452195 c.3922G>A p.V1308I missense 0.00117257●●●●●●
21. 112476110 c.1978G>T p.D660Y missense 0.00114537●●●●●●
22. 112460429 c.3154G>A p.V1052M missense 0.00111201●●●●●●
23. 112476767 c.1938T>C p.D646D splice site 0.00103001●●●●●●
24. 112471715 c.2150G>A p.R717K missense 0.00083192●●●●●●
25. 112476121 c.1967T>C p.I656T missense 0.00071702●●●●●●
26. 112430662 c.5429T>C p.I1810T missense 0.00063644●●●●●●
27. 112508755 c.842C>G p.A281G missense 0.00063501●●●●●●
28. 112461010 c.3033G>T p.L1011F missense 0.00053564●●●●●●
29. 112439104 c.4801-3C>T splice site 0.00050451●●●●●●
30. 112463374 c.2593C>G p.P865A missense 0.00048604●●●●●●
31. 112528271 c.373G>T p.A125S missense 0.00047872●●●●●●
32. 112435335 c.5249C>T p.P1750L missense 0.00044536●●●●●●
33. 112537679 c.196-9C>T splice site 0.00044286●●●●●●
34. 112512882 c.674C>T p.A225V missense 0.00043967●●●●●●
35. 112437149 c.5008C>T p.R1670C missense 0.00043685●●●●●●
36. 112441478 c.4644+8G>T splice site 0.00035587●●●●●●
37. 112537561 c.297+8G>A splice site 0.00032998●●●●●●
38. 112508794 c.803A>G p.K268R missense 0.00032926●●●●●●
39. 112476147 c.1941G>A p.A647A splice site 0.00026388●●●●●●
40. 112575186 c.167C>T p.A56V missense 0.00023906●●●●●●
41. 112461988 c.2929G>A p.V977I missense 0.00023161●●●●●●
42. 112493805 c.1530+8G>A splice site 0.00023092●●●●●●
43. 112513042 c.514G>A p.G172S missense 0.00022479●●●●●●
44. 112471740 c.2125G>A p.V709I missense 0.00022239●●●●●●
45. 112575268 c.85G>A p.D29N missense 0.00021637●●●●●●
46. 0 c.2956-12delT splice site 0.00021476●●●●●●
47. 112440489 c.4670G>T p.S1557I missense 0.00021440●●●●●●
48. 112479974 c.1756C>T p.H586Y missense 0.00021431●●●●●●
49. 112430768 c.5323C>T p.R1775C missense 0.00019793●●●●●●
50. 112480089 c.1648-7delT splice site 0.00019425●●●●●●
51. 112457432 c.3286C>T p.R1096C missense 0.00018985●●●●●●
52. 112512888 c.668G>A p.R223H missense 0.00018235●●●●●●
53. 112440388 c.4771G>T p.A1591S missense 0.00017315●●●●●●
54. 112510396 c.730G>C p.G244R missense 0.00016580●●●●●●
55. 112457459 c.3262-3C>G splice site 0.00016515●●●●●●
56. 112528337 c.307C>T p.R103W missense 0.00016500●●●●●●
57. 112451123 c.4067A>G p.Q1356R missense 0.00015891●●●●●●
58. 112575231 c.122C>T p.A41V missense 0.00015442●●●●●●
59. 112460954 c.3089G>A p.R1030Q missense 0.00014828●●●●●●
60. 112454047 c.3721A>G p.I1241V missense 0.00014039●●●●●●
61. 112508717 c.880G>A p.V294I missense 0.00013187●●●●●●
62. 112486369 c.1640T>C p.I547T missense 0.00013181●●●●●●
63. 112537568 c.297+1G>T essential splice site 0.00011545●●●●●●
64. 112438959 c.4943G>A p.G1648E missense 0.00011536●●●●●●
65. 112441658 c.4472G>A p.R1491H missense 0.00010860●●●●●●
66. 112441506 c.4624A>T p.N1542Y missense 0.00010739●●●●●●
67. 112454696 c.3537-7T>C splice site 0.00010717●●●●●●
68. 112486353 c.1647+9G>A splice site 0.00010710●●●●●●
69. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916●●●●●●
70. 112450240 c.4150T>C p.Y1384H missense 0.00009908●●●●●●
71. 112462026 c.2891C>T p.S964F missense 0.00009900●●●●●●
72. 112437148 c.5009G>A p.R1670H missense 0.00009890●●●●●●
73. 112443256 c.4415G>A p.R1472H missense 0.00009889●●●●●●
74. 112506519 c.976G>A p.A326T missense 0.00009885●●●●●●
75. 112486426 c.1583G>A p.S528N missense 0.00009062●●●●●●
76. 112486354 c.1647+8C>T splice site 0.00009062●●●●●●
77. 112496595 c.1256T>C p.M419T missense 0.00009060●●●●●●
78. 112575286 c.67C>T p.R23C missense 0.00008823●●●●●●
79. 112575246 c.107T>C p.I36T missense 0.00008804●●●●●●
80. 112466091 c.2377C>T p.R793C missense 0.00008269●●●●●●
81. 112528252 c.392C>T p.P131L missense 0.00008257●●●●●●
82. 112450212 c.4178A>G p.Y1393C missense 0.00008256●●●●●●
83. 112493944 c.1399G>A p.V467I missense 0.00008254●●●●●●
84. 112493809 c.1530+4C>T splice site 0.00008246●●●●●●
85. 112440462 c.4697G>A p.R1566Q missense 0.00008242●●●●●●
86. 112454586 c.3640C>G p.L1214V missense 0.00008241●●●●●●
87. 112457428 c.3290A>G p.N1097S missense 0.00007428●●●●●●
88. 112493927 c.1416_1421dupTGACTA p.Asp473_Tyr474dup inframe 0.00007422●●●●●●
89. 112508719 c.878G>A p.S293N missense 0.00007417●●●●●●
90. 112443287 c.4384G>A p.A1462T missense 0.00007416●●●●●●
91. 112461009 c.3034T>C p.Y1012H missense 0.00007416●●●●●●
92. 112463419 c.2548G>A p.A850T missense 0.00007415●●●●●●
93. 112575241 c.112G>A p.G38R missense 0.00007314●●●●●●
94. 112480078 c.1652C>T p.A551V missense 0.00006988●●●●●●
95. 112512883 c.673G>C p.A225P missense 0.00006636●●●●●●
96. 112455789 c.3416A>G p.D1139G missense 0.00006612●●●●●●
97. 112508744 c.853G>A p.E285K missense 0.00006595●●●●●●
98. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
99. 112463376 c.2591G>A p.R864Q missense 0.00006591●●●●●●
100. 112463368 c.2599C>G p.L867V missense 0.00006591●●●●●●
101. 112463377 c.2590C>T p.R864W missense 0.00006590●●●●●●
102. 112496574 c.1277G>A p.R426H missense 0.00006589●●●●●●
103. 112575190 c.163G>T p.V55L missense 0.00006076●●●●●●
104. 112513035 c.521A>G p.Y174C missense 0.00005971●●●●●●
105. 112453972 c.3796T>C p.F1266L missense 0.00005821●●●●●●
106. 112512978 c.578C>T p.S193L missense 0.00005801●●●●●●
107. 112537612 c.254A>G p.N85S missense 0.00005770●●●●●●
108. 112460485 c.3098T>G p.L1033R missense 0.00005769●●●●●●
109. 112508690 c.907C>G p.H303D missense 0.00005768●●●●●●
110. 112486463 c.1546G>T p.V516L missense 0.00005767●●●●●●
111. 112575165 c.188C>T p.A63V missense 0.00005520●●●●●●
112. 112508789 c.808G>A p.V270I missense 0.00005141●●●●●●
113. 112454085 c.3683G>A p.R1228H missense 0.00004956●●●●●●
114. 112457431 c.3287G>A p.R1096H missense 0.00004953●●●●●●
115. 112528274 c.370G>C p.G124R missense 0.00004952●●●●●●
116. 112528337 c.307C>G p.R103G missense 0.00004950●●●●●●
117. 112469523 c.2168G>A p.R723H missense 0.00004948●●●●●●
118. 112454673 c.3553C>T p.L1185F missense 0.00004946●●●●●●
119. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
120. 112438956 c.4946G>T p.G1649V missense 0.00004944●●●●●●
121. 112463389 c.2578C>A p.P860T missense 0.00004943●●●●●●
122. 112476868 c.1837G>A p.A613T missense 0.00004943●●●●●●
123. 112496560 c.1291A>G p.T431A missense 0.00004942●●●●●●
124. 112510411 c.719-4A>G splice site 0.00004177●●●●●●
125. 112493979 c.1364G>A p.R455Q missense 0.00004155●●●●●●
126. 112493974 c.1369C>G p.H457D missense 0.00004154●●●●●●
127. 112441646 c.4484G>A p.R1495H missense 0.00004153●●●●●●
128. 112450120 c.4266+4A>G splice site 0.00004140●●●●●●
129. 112439053 c.4849A>C p.N1617H missense 0.00004129●●●●●●
130. 112499315 c.1168+8T>C splice site 0.00004127●●●●●●
131. 112457417 c.3301C>T p.H1101Y missense 0.00004126●●●●●●
132. 112528289 c.355G>A p.G119R missense 0.00004126●●●●●●
133. 112443346 c.4325G>A p.R1442Q missense 0.00004123●●●●●●
134. 112430767 c.5324G>A p.R1775H missense 0.00004123●●●●●●
135. 112435279 c.5305G>A p.E1769K missense 0.00004123●●●●●●
136. 112440483 c.4676G>A p.R1559Q missense 0.00004122●●●●●●
137. 112440465 c.4694T>G p.L1565R missense 0.00004121●●●●●●
138. 112476883 c.1822G>A p.G608R missense 0.00004120●●●●●●
139. 112461021 c.3022G>C p.V1008L missense 0.00004120●●●●●●
140. 112438951 c.4951G>A p.V1651M missense 0.00004120●●●●●●
141. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
142. 112506459 c.1036G>A p.V346I missense 0.00004119●●●●●●
143. 112508805 c.794-2A>C essential splice site 0.00003578●●●●●●
144. 112575248 c.105C>G p.D35E missense 0.00003497●●●●●●
145. 112512832 c.718+6G>T splice site 0.00003405●●●●●●
146. 112575162 c.191C>T p.A64V missense 0.00003391●●●●●●
147. 112512984 c.572G>A p.G191E missense 0.00003318●●●●●●
148. 112450276 c.4114G>A p.V1372M missense 0.00003311●●●●●●
149. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
150. 112466087 c.2381C>T p.T794M missense 0.00003306●●●●●●
151. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
152. 112450156 c.4234T>G p.L1412V missense 0.00003306●●●●●●
153. 112441499 c.4631G>A p.G1544D missense 0.00003305●●●●●●
154. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
155. 112493953 c.1390T>C p.F464L missense 0.00003304●●●●●●
156. 112455708 c.3497T>C p.I1166T missense 0.00003304●●●●●●
157. 112441569 c.4561C>T p.R1521C missense 0.00003303●●●●●●
158. 112452190 c.3927T>G p.I1309M missense 0.00003303●●●●●●
159. 112450188 c.4202C>T p.P1401L missense 0.00003303●●●●●●
160. 112440501 c.4658G>A p.R1553Q missense 0.00003301●●●●●●
161. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
162. 112476152 c.1939-3T>C splice site 0.00003299●●●●●●
163. 112469497 c.2194G>A p.E732K missense 0.00003298●●●●●●
164. 112466040 c.2428A>T p.R810W missense 0.00003298●●●●●●
165. 112469487 c.2204A>G p.N735S missense 0.00003297●●●●●●
166. 112454543 c.3675+8C>T splice site 0.00003297●●●●●●
167. 112479973 c.1757A>G p.H586R missense 0.00003297●●●●●●
168. 112454653 c.3573C>A p.F1191L missense 0.00003297●●●●●●
169. 112499371 c.1120G>A p.A374T missense 0.00003297●●●●●●
170. 112493861 c.1482T>A p.D494E missense 0.00003296●●●●●●
171. 112476055 c.2033C>T p.S678F missense 0.00003296●●●●●●
172. 112476094 c.1994T>C p.L665P missense 0.00003296●●●●●●
173. 112486396 c.1613G>A p.R538H missense 0.00003295●●●●●●
174. 112462603 c.2749G>A p.V917I missense 0.00003295●●●●●●
175. 112496554 c.1297C>T p.R433W missense 0.00003295●●●●●●
176. 112463362 c.2605G>A p.E869K missense 0.00003295●●●●●●
177. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
178. 112463385 c.2582C>G p.P861R missense 0.00003295●●●●●●
179. 112506434 c.1056+5G>A splice site 0.00003295●●●●●●
180. 112460348 c.3235G>A p.G1079S missense 0.00003295●●●●●●
181. 112451077 c.4112+1G>C essential splice site 0.00002960●●●●●●
182. 112575331 c.22C>T p.R8C missense 0.00002797●●●●●●
183. 112441679 c.4455-4C>A splice site 0.00002582●●●●●●
184. 112453955 c.3813G>A p.G1271G splice site 0.00002515●●●●●●
185. 112453956 c.3812G>T p.G1271V missense 0.00002513●●●●●●
186. 112513009 c.547A>G p.T183A missense 0.00002502●●●●●●
187. 112443407 c.4267-3T>C splice site 0.00002496●●●●●●
188. 112512883 c.673G>A p.A225T missense 0.00002488●●●●●●
189. 112453998 c.3770G>A p.R1257Q missense 0.00002486●●●●●●
190. 112493962 c.1381C>T p.R461C missense 0.00002482●●●●●●
191. 112450137 c.4253G>A p.S1418N missense 0.00002482●●●●●●
192. 112510336 c.790A>G p.T264A missense 0.00002481●●●●●●
193. 112455790 c.3415G>A p.D1139N missense 0.00002480●●●●●●
194. 112450157 c.4233T>A p.N1411K missense 0.00002479●●●●●●
195. 112435865 c.5185+1G>A essential splice site 0.00002478●●●●●●
196. 112441535 c.4595A>T p.K1532I missense 0.00002477●●●●●●
197. 112457455 c.3263G>T p.S1088I missense 0.00002477●●●●●●
198. 112441568 c.4562G>A p.R1521H missense 0.00002477●●●●●●
199. 112450213 c.4177T>A p.Y1393N missense 0.00002477●●●●●●
200. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
201. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
202. 112450228 c.4162G>A p.V1388I missense 0.00002476●●●●●●
203. 112440504 c.4655T>C p.I1552T missense 0.00002476●●●●●●
204. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
205. 112457422 c.3296A>G p.Y1099C missense 0.00002476●●●●●●
206. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
207. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
208. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
209. 112437176 c.4981T>G p.L1661V missense 0.00002474●●●●●●
210. 112439040 c.4862T>G p.I1621S missense 0.00002474●●●●●●
211. 112462098 c.2819T>C p.L940S missense 0.00002474●●●●●●
212. 112462089 c.2828C>T p.P943L missense 0.00002474●●●●●●
213. 112463323 c.2644A>C p.N882H missense 0.00002474●●●●●●
214. 112439043 c.4859C>T p.S1620F missense 0.00002474●●●●●●
215. 112493806 c.1530+7C>T splice site 0.00002474●●●●●●
216. 112479963 c.1767C>A p.D589E missense 0.00002473●●●●●●
217. 112476916 c.1797-8A>G splice site 0.00002473●●●●●●
218. 112479980 c.1750A>G p.I584V missense 0.00002473●●●●●●
219. 112479938 c.1792A>G p.S598G missense 0.00002473●●●●●●
220. 112476853 c.1852A>G p.N618D missense 0.00002472●●●●●●
221. 112476777 c.1928G>A p.R643Q missense 0.00002472●●●●●●
222. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
223. 112440456 c.4703T>C p.L1568P missense 0.00002472●●●●●●
224. 112476889 c.1816A>G p.M606V missense 0.00002472●●●●●●
225. 112476891 c.1814A>T p.D605V missense 0.00002472●●●●●●
226. 112476852 c.1853A>G p.N618S missense 0.00002472●●●●●●
227. 112469404 c.2287G>T p.D763Y missense 0.00002472●●●●●●
228. 112486379 c.1630C>T p.L544F missense 0.00002472●●●●●●
229. 112463393 c.2574G>T p.M858I missense 0.00002471●●●●●●
230. 112471745 c.2120A>G p.D707G missense 0.00002471●●●●●●
231. 112471796 c.2069G>A p.R690H missense 0.00002471●●●●●●
232. 112486482 c.1531-4G>A splice site 0.00002471●●●●●●
233. 112575200 c.153C>A p.S51R missense 0.00002045●●●●●●
234. 112575193 c.160C>T p.R54C missense 0.00002023●●●●●●
235. 112575181 c.172G>A p.G58R missense 0.00001950●●●●●●
236. 112575313 c.40T>C p.W14R missense 0.00001916●●●●●●
237. 112513054 c.504-2A>G essential splice site 0.00001832●●●●●●
238. 112494013 c.1337-7T>C splice site 0.00001755●●●●●●
239. 112494000 c.1343G>T p.S448I missense 0.00001698●●●●●●
240. 112513026 c.530C>G p.P177R missense 0.00001683●●●●●●
241. 112451152 c.4038T>A p.F1346L missense 0.00001672●●●●●●
242. 112462713 c.2647-8T>C splice site 0.00001670●●●●●●
243. 112512862 c.694G>T p.A232S missense 0.00001667●●●●●●
244. 112512862 c.694G>A p.A232T missense 0.00001667●●●●●●
245. 112510406 c.720G>A splice site 0.00001665●●●●●●
246. 112453970 c.3798C>A p.F1266L missense 0.00001664●●●●●●
247. 112512870 c.686A>C p.Y229S missense 0.00001662●●●●●●
248. 112443400 c.4271G>A p.G1424E missense 0.00001659●●●●●●
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745. 112460954 c.3089G>C p.R1030P missense 0.00000824●●●●●●
746. 112460467 c.3116G>A p.R1039Q missense 0.00000824●●●●●●
747. 112460990 c.3053A>G p.Y1018C missense 0.00000824●●●●●●
748. 112486457 c.1552G>A p.E518K missense 0.00000824●●●●●●
749. 112469410 c.2281C>T p.H761Y missense 0.00000824●●●●●●
750. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 0.00000824●●●●●●
751. 112460391 c.3192G>T p.Q1064H missense 0.00000824●●●●●●
752. 112443246 c.4425T>G p.F1475L missense 0.00000824●●●●●●
753. 112463420 c.2547G>C p.K849N missense 0.00000824●●●●●●
754. 112506498 c.997A>G p.N333D missense 0.00000824●●●●●●
755. 112493824 c.1519C>T p.R507W missense 0.00000824●●●●●●
756. 112437112 c.5045A>T p.H1682L missense 0.00000824●●●●●●
757. 112440394 c.4765G>A p.G1589S missense 0.00000824●●●●●●
758. 112462596 c.2756C>T p.S919F missense 0.00000824●●●●●●
759. 112471749 c.2116A>G p.S706G missense 0.00000824●●●●●●
760. 112462620 c.2732C>T p.P911L missense 0.00000824●●●●●●
761. 112499341 c.1150A>G p.M384V missense 0.00000824●●●●●●
762. 112496545 c.1306G>A p.V436M missense 0.00000824●●●●●●
763. 112496631 c.1220A>G p.K407R missense 0.00000824●●●●●●
764. 112479982 c.1748C>G p.A583G missense 0.00000824●●●●●●
765. 112462093 c.2824G>C p.V942L missense 0.00000824●●●●●●
766. 112469461 c.2230G>A p.A744T missense 0.00000824●●●●●●
767. 112476828 c.1877A>G p.Y626C missense 0.00000824●●●●●●
768. 112469449 c.2242A>C p.M748L missense 0.00000824●●●●●●
769. 112454580 c.3646G>A p.V1216I missense 0.00000824●●●●●●
770. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
771. 112508743 c.854A>T p.E285V missense 0.00000824●●●●●●
772. 112476083 c.2005G>A p.A669T missense 0.00000824●●●●●●
773. 112463428 c.2539G>A p.D847N missense 0.00000824●●●●●●
774. 112460443 c.3140G>A p.G1047D missense 0.00000824●●●●●●
775. 112471779 c.2086G>A p.A696T missense 0.00000824●●●●●●
776. 112506536 c.959A>G p.E320G missense 0.00000824●●●●●●
777. 112438948 c.4954G>T p.V1652F missense 0.00000824●●●●●●
778. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824●●●●●●
779. 112506528 c.967A>T p.N323Y missense 0.00000824●●●●●●
780. 112493907 c.1436C>A p.S479X nonsense 0.00000824●●●●●●
781. 112476114 c.1974T>G p.H658Q missense 0.00000824●●●●●●
782. 112463474 c.2493T>G p.F831L missense 0.00000824●●●●●●
783. 112522807 c.503+2T>C essential splice site 0.00000824●●●●●●
784. 112522837 c.475G>A p.E159K missense 0.00000824●●●●●●
785. 112486445 c.1564G>A p.V522M missense 0.00000824●●●●●●
786. 112471807 c.2058C>A p.D686E missense 0.00000824●●●●●●
787. 112471798 c.2067G>T p.R689S missense 0.00000824●●●●●●
788. 112460332 c.3251T>C p.M1084T 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.