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. 112575345 c.8dupT p.Leu3PhefsTer33 frameshift 0.00000921●●●●●●
2. 112575342 c.11G>A p.S4N missense 0.00000923●●●●●●
3. 112575331 c.22C>T p.R8C missense 0.00002797●●●●●●
4. 112575331 c.22C>A p.R8S missense 0.00000932●●●●●●
5. 112575313 c.40T>C p.W14R missense 0.00001916●●●●●●
6. 112575290 c.63C>G p.C21W missense 0.00001067●●●●●●
7. 112575286 c.67C>T p.R23C missense 0.00008823●●●●●●
8. 112575286 c.67C>G p.R23G missense 0.00001103●●●●●●
9. 112575268 c.85G>A p.D29N missense 0.00021637●●●●●●
10. 112575268 c.85G>C p.D29H missense 0.00157228●●●●●●
11. 112575264 c.89A>G p.N30S missense 0.00001498●●●●●●
12. 112575261 c.92C>T p.A31V missense 0.00001567●●●●●●
13. 112575255 c.98C>T p.P33L missense 0.00001645●●●●●●
14. 112575248 c.105C>G p.D35E missense 0.00003497●●●●●●
15. 112575246 c.107T>C p.I36T missense 0.00008804●●●●●●
16. 112575241 c.112G>A p.G38R missense 0.00007314●●●●●●
17. 112575231 c.122C>T p.A41V missense 0.00015442●●●●●●
18. 112575200 c.153C>A p.S51R missense 0.00002045●●●●●●
19. 112575193 c.160C>T p.R54C missense 0.00002023●●●●●●
20. 112575190 c.163G>T p.V55L missense 0.00006076●●●●●●
21. 112575186 c.167C>T p.A56V missense 0.00023906●●●●●●
22. 112575181 c.172G>A p.G58R missense 0.00001950●●●●●●
23. 112575165 c.188C>T p.A63V missense 0.00005520●●●●●●
24. 112575162 c.191C>T p.A64V missense 0.00003391●●●●●●
25. 112575153 c.195+5A>G splice site 0.00001458●●●●●●
26. 112537679 c.196-9C>T splice site 0.00044286●●●●●●
27. 112537677 c.196-7G>A splice site 0.00000835●●●●●●
28. 112537664 c.202A>G p.N68D missense 0.00001657●●●●●●
29. 112537663 c.203A>G p.N68S missense 0.00001655●●●●●●
30. 112537655 c.211T>A p.F71I missense 0.00001652●●●●●●
31. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
32. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
33. 112537642 c.224T>C p.L75P missense 0.00000825●●●●●●
34. 112537619 c.247G>A p.D83N missense 0.00001649●●●●●●
35. 112537619 c.247G>C p.D83H missense 0.00000824●●●●●●
36. 112537612 c.254A>G p.N85S missense 0.00005770●●●●●●
37. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648●●●●●●
38. 112537600 c.266A>G p.N89S missense 0.00000824●●●●●●
39. 112537598 c.268G>A p.E90K missense 0.00000824●●●●●●
40. 112537597 c.269A>G p.E90G missense 0.00000824●●●●●●
41. 112537586 c.280G>A p.G94S missense 0.00555601●●●●●●
42. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
43. 112537568 c.297+1G>T essential splice site 0.00011545●●●●●●
44. 112537561 c.297+8G>A splice site 0.00032998●●●●●●
45. 112528342 c.302_303delGC p.Cys101SerfsTer10 frameshift 0.00000825●●●●●●
46. 112528337 c.307C>T p.R103W missense 0.00016500●●●●●●
47. 112528337 c.307C>G p.R103G missense 0.00004950●●●●●●
48. 112528336 c.308G>T p.R103L missense 0.00000825●●●●●●
49. 112528324 c.320G>A p.G107E missense 0.00000825●●●●●●
50. 112528309 c.335A>G p.K112R missense 0.00000825●●●●●●
51. 112528305 c.339T>A p.C113X nonsense 0.00000825●●●●●●
52. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
53. 112528301 c.343G>A p.D115N missense 0.00000825●●●●●●
54. 112528298 c.346G>A p.G116S missense 0.00000825●●●●●●
55. 112528289 c.355G>A p.G119R missense 0.00004126●●●●●●
56. 112528277 c.367A>G p.R123G missense 0.00000825●●●●●●
57. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
58. 112528274 c.370G>C p.G124R missense 0.00004952●●●●●●
59. 112528271 c.373G>T p.A125S missense 0.00047872●●●●●●
60. 112528252 c.392C>T p.P131L missense 0.00008257●●●●●●
61. 112528252 c.392C>A p.P131Q missense 0.00000826●●●●●●
62. 112528249 c.395G>C p.C132S missense 0.00000826●●●●●●
63. 112528240 c.404C>T p.P135L missense 0.00000826●●●●●●
64. 112528232 c.412C>T p.H138Y missense 0.00000826●●●●●●
65. 112528226 c.418G>A p.A140T missense 0.00000827●●●●●●
66. 112528225 c.419C>T p.A140V missense 0.00001654●●●●●●
67. 112522899 c.423-10C>T splice site 0.00461495●●●●●●
68. 112522893 c.423-4T>G splice site 0.01335667●●●●●●
69. 112522889 c.423T>G p.N141K missense 0.00000825●●●●●●
70. 112522864 c.448A>T p.N150Y missense 0.00001649●●●●●●
71. 112522857 c.455C>T p.A152V missense 0.00000824●●●●●●
72. 112522852 c.460C>T p.R154W missense 0.05307488●●●●●●
73. 112522851 c.461G>A p.R154Q missense 0.00000824●●●●●●
74. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824●●●●●●
75. 112522837 c.475G>A p.E159K missense 0.00000824●●●●●●
76. 112522814 c.498T>A p.C166X nonsense 0.00000824●●●●●●
77. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
78. 112522807 c.503+2T>C essential splice site 0.00000824●●●●●●
79. 112513054 c.504-2A>G essential splice site 0.00001832●●●●●●
80. 112513052 c.504A>G splice site 0.00000901●●●●●●
81. 112513042 c.514G>A p.G172S missense 0.00022479●●●●●●
82. 112513035 c.521A>G p.Y174C missense 0.00005971●●●●●●
83. 112513030 c.526A>G p.N176D missense 0.00000845●●●●●●
84. 112513026 c.530C>G p.P177R missense 0.00001683●●●●●●
85. 112513009 c.547A>G p.T183A missense 0.00002502●●●●●●
86. 112512994 c.562G>T p.D188Y missense 0.00000830●●●●●●
87. 112512990 c.566G>T p.C189F missense 0.00000830●●●●●●
88. 112512984 c.572G>A p.G191E missense 0.00003318●●●●●●
89. 112512978 c.578C>T p.S193L missense 0.00005801●●●●●●
90. 112512951 c.605G>A p.C202Y missense 0.00001654●●●●●●
91. 112512939 c.617C>G p.T206S missense 0.00000827●●●●●●
92. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
93. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
94. 112512915 c.641G>A p.R214H missense 0.00133093●●●●●●
95. 112512904 c.652G>A p.G218R missense 0.00001656●●●●●●
96. 112512889 c.667C>T p.R223C missense 0.00000829●●●●●●
97. 112512888 c.668G>A p.R223H missense 0.00018235●●●●●●
98. 112512883 c.673G>C p.A225P missense 0.00006636●●●●●●
99. 112512883 c.673G>A p.A225T missense 0.00002488●●●●●●
100. 112512882 c.674C>T p.A225V missense 0.00043967●●●●●●
101. 112512880 c.676C>T p.P226S missense 0.00000830●●●●●●
102. 112512873 c.683A>G p.Y228C missense 0.00000831●●●●●●
103. 112512870 c.686A>C p.Y229S missense 0.00001662●●●●●●
104. 112512862 c.694G>A p.A232T missense 0.00001667●●●●●●
105. 112512862 c.694G>T p.A232S missense 0.00001667●●●●●●
106. 112512857 c.699G>T p.R233S missense 0.00000835●●●●●●
107. 112512833 c.718+5A>G splice site 0.00000850●●●●●●
108. 112512832 c.718+6G>T splice site 0.00003405●●●●●●
109. 112510411 c.719-4A>G splice site 0.00004177●●●●●●
110. 112510408 c.719-1G>A essential splice site 0.00000834●●●●●●
111. 112510406 c.720G>A splice site 0.00001665●●●●●●
112. 112510404 c.722G>C p.C241S missense 0.00000831●●●●●●
113. 112510396 c.730G>A p.G244R missense 0.00000829●●●●●●
114. 112510396 c.730G>C p.G244R missense 0.00016580●●●●●●
115. 112510393 c.733G>A p.G245R missense 0.00000828●●●●●●
116. 112510389 c.737G>C p.G246A missense 0.00001654●●●●●●
117. 112510389 c.737G>A p.G246D missense 0.00001654●●●●●●
118. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
119. 112510353 c.773_775delAAG p.Glu258del inframe 0.00001652●●●●●●
120. 112510350 c.776G>A p.G259D missense 0.00000826●●●●●●
121. 112510336 c.790A>G p.T264A missense 0.00002481●●●●●●
122. 112510334 c.792A>C splice site 0.00000827●●●●●●
123. 112510327 c.793+6G>A splice site 0.00000828●●●●●●
124. 112510327 c.793+6G>T splice site 0.00000828●●●●●●
125. 112508805 c.794-2A>C essential splice site 0.00003578●●●●●●
126. 112508800 c.797G>A p.C266Y missense 0.00000882●●●●●●
127. 112508794 c.803A>G p.K268R missense 0.00032926●●●●●●
128. 112508789 c.808G>A p.V270I missense 0.00005141●●●●●●
129. 112508786 c.811T>C p.W271R missense 0.00000855●●●●●●
130. 112508780 c.817C>A p.L273M missense 0.00000848●●●●●●
131. 112508770 c.827C>A p.A276E missense 0.99999176●●●●●●
132. 112508770 c.827C>G p.A276G missense 0.00000824●●●●●●
133. 112508765 c.832C>T p.R278W missense 0.00001650●●●●●●
134. 112508755 c.842C>G p.A281G missense 0.00063501●●●●●●
135. 112508750 c.847T>C p.S283P missense 0.00000824●●●●●●
136. 112508750 c.847T>G p.S283A missense 0.00000824●●●●●●
137. 112508746 c.851T>C p.I284T missense 0.00000824●●●●●●
138. 112508745 c.852C>G p.I284M missense 0.00000824●●●●●●
139. 112508744 c.853G>A p.E285K missense 0.00006595●●●●●●
140. 112508743 c.854A>T p.E285V missense 0.00000824●●●●●●
141. 112508729 c.868G>A p.G290R missense 0.00001649●●●●●●
142. 112508719 c.878G>A p.S293N missense 0.00007417●●●●●●
143. 112508717 c.880G>A p.V294I missense 0.00013187●●●●●●
144. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
145. 112508705 c.892G>A p.A298T missense 0.00000824●●●●●●
146. 112508702 c.895G>A p.A299T missense 0.00001648●●●●●●
147. 112508699 c.898G>A p.A300T missense 0.00001648●●●●●●
148. 112508696 c.901C>T p.H301Y missense 0.00001648●●●●●●
149. 112508692 c.905G>A p.R302K missense 0.00000824●●●●●●
150. 112508690 c.907C>G p.H303D missense 0.00005768●●●●●●
151. 112508687 c.910G>A p.V304M missense 0.00001648●●●●●●
152. 112508672 c.925G>A p.A309T missense 0.00000824●●●●●●
153. 112508671 c.926C>T p.A309V missense 0.00000824●●●●●●
154. 112508666 c.931A>G p.I311V missense 0.00001648●●●●●●
155. 112508648 c.945+4C>A splice site 0.00001648●●●●●●
156. 112508647 c.945+5G>A splice site 0.00000824●●●●●●
157. 112506537 c.958G>A p.E320K missense 0.00000824●●●●●●
158. 112506536 c.959A>G p.E320G missense 0.00000824●●●●●●
159. 112506534 c.961A>G p.R321G missense 0.00000824●●●●●●
160. 112506530 c.965A>G p.E322G missense 0.00000824●●●●●●
161. 112506528 c.967A>T p.N323Y missense 0.00000824●●●●●●
162. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824●●●●●●
163. 112506519 c.976G>A p.A326T missense 0.00009885●●●●●●
164. 112506519 c.976G>T p.A326S missense 0.00000824●●●●●●
165. 112506518 c.977C>T p.A326V missense 0.00000824●●●●●●
166. 112506506 c.989T>C p.I330T missense 0.00001648●●●●●●
167. 112506498 c.997A>C p.N333H missense 0.00000824●●●●●●
168. 112506498 c.997A>G p.N333D missense 0.00000824●●●●●●
169. 112506494 c.1001A>G p.N334S missense 0.00000824●●●●●●
170. 112506482 c.1013C>A p.T338K missense 0.00000824●●●●●●
171. 112506482 c.1013C>T p.T338M missense 0.00001648●●●●●●
172. 112506479 c.1016T>C p.M339T missense 0.00000824●●●●●●
173. 112506459 c.1036G>A p.V346I missense 0.00004119●●●●●●
174. 112506454 c.1041G>C p.E347D missense 0.00000824●●●●●●
175. 112506451 c.1044A>T p.E348D missense 0.00000824●●●●●●
176. 112506434 c.1056+5G>A splice site 0.00003295●●●●●●
177. 112499425 c.1066G>A p.A356T missense 0.00000838●●●●●●
178. 112499421 c.1070C>T p.S357F missense 0.00000833●●●●●●
179. 112499404 c.1087G>T p.V363F missense 0.00000826●●●●●●
180. 112499390 c.1101C>A p.S367R missense 0.00000825●●●●●●
181. 112499385 c.1106A>G p.D369G missense 0.00000825●●●●●●
182. 112499379 c.1112T>C p.I371T missense 0.00000824●●●●●●
183. 112499372 c.1119C>A p.H373Q missense 0.00000824●●●●●●
184. 112499371 c.1120G>A p.A374T missense 0.00003297●●●●●●
185. 112499364 c.1127A>G p.Q376R missense 0.00000824●●●●●●
186. 112499363 c.1128G>C p.Q376H missense 0.00000824●●●●●●
187. 112499354 c.1137G>T p.E379D missense 0.00000824●●●●●●
188. 112499346 c.1145A>G p.H382R missense 0.00001649●●●●●●
189. 112499341 c.1150A>G p.M384V missense 0.00000824●●●●●●
190. 112499328 c.1163T>C p.I388T missense 0.00000825●●●●●●
191. 112499315 c.1168+8T>C splice site 0.00004127●●●●●●
192. 112496690 c.1169-8C>G splice site 0.00961665●●●●●●
193. 112496661 c.1190A>G p.Y397C missense 0.00000824●●●●●●
194. 112496659 c.1192T>C p.Y398H missense 0.00000824●●●●●●
195. 112496631 c.1220A>G p.K407R missense 0.00000824●●●●●●
196. 112496630 c.1221G>T p.K407N missense 0.00000824●●●●●●
197. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
198. 112496596 c.1255A>T p.M419L missense 0.00000824●●●●●●
199. 112496595 c.1256T>C p.M419T missense 0.00009060●●●●●●
200. 112496574 c.1277G>A p.R426H missense 0.00006589●●●●●●
201. 112496562 c.1289T>C p.F430S missense 0.00001647●●●●●●
202. 112496560 c.1291A>G p.T431A missense 0.00004942●●●●●●
203. 112496559 c.1292C>G p.T431S missense 0.00000824●●●●●●
204. 112496554 c.1297C>T p.R433W missense 0.00003295●●●●●●
205. 112496554 c.1297C>G p.R433G missense 0.00001647●●●●●●
206. 112496545 c.1306G>A p.V436M missense 0.00000824●●●●●●
207. 112496541 c.1310A>G p.D437G missense 0.00001647●●●●●●
208. 112496521 c.1330T>A p.Y444N missense 0.00000824●●●●●●
209. 112496517 c.1334A>G p.E445G missense 0.00000824●●●●●●
210. 112496512 c.1336+3A>G splice site 0.00000824●●●●●●
211. 112496511 c.1336+4G>T splice site 0.03149717●●●●●●
212. 112496508 c.1336+7G>A splice site 0.00001648●●●●●●
213. 112494013 c.1337-7T>C splice site 0.00001755●●●●●●
214. 112494000 c.1343G>T p.S448I missense 0.00001698●●●●●●
215. 112493979 c.1364G>A p.R455Q missense 0.00004155●●●●●●
216. 112493974 c.1369C>G p.H457D missense 0.00004154●●●●●●
217. 112493964 c.1379C>T p.T460I missense 0.00000827●●●●●●
218. 112493962 c.1381C>T p.R461C missense 0.00002482●●●●●●
219. 112493956 c.1387C>G p.L463V missense 0.00000826●●●●●●
220. 112493953 c.1390T>C p.F464L missense 0.00003304●●●●●●
221. 112493944 c.1399G>A p.V467I missense 0.00008254●●●●●●
222. 112493941 c.1402C>G p.L468V missense 0.00001651●●●●●●
223. 112493940 c.1403T>C p.L468P missense 0.00000825●●●●●●
224. 112493928 c.1415A>T p.D472V missense 0.00000825●●●●●●
225. 112493927 c.1416_1421dupTGACTA p.Asp473_Tyr474dup inframe 0.00007422●●●●●●
226. 112493920 c.1423A>G p.N475D missense 0.00000825●●●●●●
227. 112493909 c.1434G>T p.L478F missense 0.00001649●●●●●●
228. 112493907 c.1436C>A p.S479X nonsense 0.00000824●●●●●●
229. 112493905 c.1438G>C p.D480H missense 0.00000824●●●●●●
230. 112493889 c.1454T>A p.L485H missense 0.00276093●●●●●●
231. 112493872 c.1471T>C p.Y491H missense 0.66491939●●●●●●
232. 112493861 c.1482T>A p.D494E missense 0.00003296●●●●●●
233. 112493857 c.1486G>A p.E496K missense 0.00000824●●●●●●
234. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
235. 112493835 c.1508C>T p.A503V missense 0.00000824●●●●●●
236. 112493824 c.1519C>T p.R507W missense 0.00000824●●●●●●
237. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
238. 112493820 c.1523A>T p.D508V missense 0.00000824●●●●●●
239. 112493809 c.1530+4C>T splice site 0.00008246●●●●●●
240. 112493806 c.1530+7C>A splice site 0.00000825●●●●●●
241. 112493806 c.1530+7C>T splice site 0.00002474●●●●●●
242. 112493805 c.1530+8G>A splice site 0.00023092●●●●●●
243. 112486483 c.1531-5C>T splice site 0.00000824●●●●●●
244. 112486482 c.1531-4G>A splice site 0.00002471●●●●●●
245. 112486471 c.1538A>G p.Q513R missense 0.00000824●●●●●●
246. 112486469 c.1540G>C p.E514Q missense 0.00000824●●●●●●
247. 112486463 c.1546G>T p.V516L missense 0.00005767●●●●●●
248. 112486457 c.1552G>A p.E518K missense 0.00000824●●●●●●
249. 112486450 c.1559T>C p.M520T missense 0.00000824●●●●●●
250. 112486448 c.1561G>A p.E521K missense 0.00000824●●●●●●
251. 112486445 c.1564G>A p.V522M missense 0.00000824●●●●●●
252. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824●●●●●●
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746. 112435398 c.5186T>C p.V1729A missense 0.00000826●●●●●●
747. 112435392 c.5192G>A p.R1731K missense 0.00000826●●●●●●
748. 112435374 c.5210A>G p.Q1737R missense 0.00000825●●●●●●
749. 112435361 c.5223C>A p.D1741E missense 0.00000825●●●●●●
750. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
751. 112435338 c.5246G>A p.G1749E missense 0.00000825●●●●●●
752. 112435336 c.5248C>T p.P1750S missense 0.00000825●●●●●●
753. 112435335 c.5249C>T p.P1750L missense 0.00044536●●●●●●
754. 112435321 c.5263C>T p.P1755S missense 0.00001649●●●●●●
755. 112435303 c.5281C>A p.P1761T missense 0.00001649●●●●●●
756. 112435296 c.5288T>G p.F1763C missense 0.00000825●●●●●●
757. 112435287 c.5297G>A p.G1766D missense 0.00001649●●●●●●
758. 112435279 c.5305G>A p.E1769K missense 0.00004123●●●●●●
759. 112435273 c.5305+6T>G splice site 0.23923374●●●●●●
760. 112435273 c.5305+6T>A splice site 0.00000825●●●●●●
761. 112435273 c.5305+6T>C splice site 0.00001650●●●●●●
762. 112430771 c.5320C>T p.P1774S missense 0.00001649●●●●●●
763. 112430768 c.5323C>T p.R1775C missense 0.00019793●●●●●●
764. 112430768 c.5323C>G p.R1775G missense 0.00000825●●●●●●
765. 112430767 c.5324G>A p.R1775H missense 0.00004123●●●●●●
766. 112430767 c.5324G>C p.R1775P missense 0.00000825●●●●●●
767. 112430758 c.5333C>A p.P1778H missense 0.00000825●●●●●●
768. 112430735 c.5356A>G p.I1786V missense 0.00001649●●●●●●
769. 112430732 c.5359C>T p.R1787C missense 0.00000825●●●●●●
770. 112430731 c.5360G>A p.R1787H missense 0.00000825●●●●●●
771. 112430729 c.5362C>T p.H1788Y missense 0.00000825●●●●●●
772. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
773. 112430716 c.5375dupA p.Asp1792GlufsTer9 frameshift 0.00000825●●●●●●
774. 112430714 c.5377G>A p.G1793R missense 0.00000825●●●●●●
775. 112430709 c.5382C>G p.H1794Q missense 0.00000825●●●●●●
776. 112430687 c.5404G>A p.A1802T missense 0.00000825●●●●●●
777. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
778. 112430669 c.5422G>A p.V1808I missense 0.00522271●●●●●●
779. 112430669 c.5422G>T p.V1808L missense 0.00000826●●●●●●
780. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916●●●●●●
781. 112430664 c.5427C>A p.S1809R missense 0.00000826●●●●●●
782. 112430663 c.5428A>G p.I1810V missense 0.00000826●●●●●●
783. 112430662 c.5429T>C p.I1810T missense 0.00063644●●●●●●
784. 112430660 c.5431A>G p.N1811D missense 0.00000827●●●●●●
785. 112430659 c.5432A>G p.N1811S missense 0.00000827●●●●●●
786. 112430654 c.5437T>C p.C1813R missense 0.00000827●●●●●●
787. 112430653 c.5438G>A p.C1813Y missense 0.00000827●●●●●●
788. 0 c.2956-12delT splice site 0.00021476●●●●●●

* 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.