SLC10A2 missense variants in ExAC

SLC10A2 gene summary
SLC10A2 variants in

The table below lists the SLC10A2 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. 103705044 c.511T>G p.S171A missense 0.86098836●●●●●●
2. 103718308 c.292G>A p.V98I missense 0.02754070●●●●●●
3. 103710635 c.475G>A p.V159I missense 0.01794868●●●●●●
4. 103701690 c.868C>T p.P290S missense 0.00954853●●●●●●
5. 103701672 c.886T>C p.F296L missense 0.00429238●●●●●●
6. 103701648 c.910T>C p.F304L missense 0.00251273●●●●●●
7. 103718406 c.194C>T p.P65L missense 0.00151578●●●●●●
8. 103718410 c.190C>T p.R64W missense 0.00115323●●●●●●
9. 103710685 c.425C>T p.P142L missense 0.00094828●●●●●●
10. 103701773 c.785C>T p.T262M missense 0.00051129●●●●●●
11. 103710695 c.415G>A p.G139R missense 0.00048673●●●●●●
12. 103718520 c.80A>G p.N27S missense 0.00048618●●●●●●
13. 103710648 c.462C>A p.D154E missense 0.00046154●●●●●●
14. 103718468 c.132G>C p.L44F missense 0.00041185●●●●●●
15. 103718331 c.269T>C p.F90S missense 0.00039543●●●●●●
16. 103718575 c.25G>C p.D9H missense 0.00025126●●●●●●
17. 103718301 c.299T>C p.V100A missense 0.00018123●●●●●●
18. 103710650 c.460G>A p.D154N missense 0.00016483●●●●●●
19. 103705055 c.500C>T p.T167I missense 0.00015697●●●●●●
20. 103704995 c.560C>T p.P187L missense 0.00015667●●●●●●
21. 103705040 c.515T>C p.L172P missense 0.00015666●●●●●●
22. 103718370 c.230G>A p.G77E missense 0.00015654●●●●●●
23. 103710731 c.379G>A p.V127I missense 0.00014043●●●●●●
24. 103710679 c.431G>A p.C144Y missense 0.00014016●●●●●●
25. 103701723 c.835A>T p.T279S missense 0.00013184●●●●●●
26. 103701788 c.770C>T p.T257M missense 0.00012391●●●●●●
27. 103703713 c.655G>A p.A219T missense 0.00012389●●●●●●
28. 103718287 c.313T>C p.C105R missense 0.00012359●●●●●●
29. 103718253 c.347C>T p.A116V missense 0.00011543●●●●●●
30. 103704987 c.568G>A p.A190T missense 0.00007422●●●●●●
31. 103701689 c.869C>T p.P290L missense 0.00007415●●●●●●
32. 103703698 c.670C>T p.P224S missense 0.00006608●●●●●●
33. 103718589 c.11C>T p.P4L missense 0.00005944●●●●●●
34. 103703764 c.604G>A p.A202T missense 0.00005797●●●●●●
35. 103703723 c.645G>T p.L215F missense 0.00005782●●●●●●
36. 103710697 c.413T>G p.L138R missense 0.00005775●●●●●●
37. 103718278 c.322G>A p.G108R missense 0.00005769●●●●●●
38. 103701670 c.888C>G p.F296L missense 0.00005767●●●●●●
39. 103718323 c.277C>T p.L93F missense 0.00005766●●●●●●
40. 103718461 c.139T>G p.F47V missense 0.00005766●●●●●●
41. 103718557 c.43T>C p.S15P missense 0.00004966●●●●●●
42. 103710721 c.389C>T p.T130I missense 0.00004953●●●●●●
43. 103701758 c.800C>T p.T267M missense 0.00004946●●●●●●
44. 103718359 c.241C>T p.L81F missense 0.00004943●●●●●●
45. 103718443 c.157G>A p.V53M missense 0.00004942●●●●●●
46. 103718421 c.179G>A p.G60E missense 0.00004942●●●●●●
47. 103703764 c.604G>T p.A202S missense 0.00004141●●●●●●
48. 103710722 c.388A>T p.T130S missense 0.00004128●●●●●●
49. 103698494 c.1036G>C p.D346H missense 0.00004123●●●●●●
50. 103718526 c.74A>G p.N25S missense 0.00004121●●●●●●
51. 103718419 c.181C>T p.H61Y missense 0.00004119●●●●●●
52. 103718597 c.3G>C p.M1I missense 0.00003420●●●●●●
53. 103703631 c.737G>C p.R246T missense 0.00003319●●●●●●
54. 103701791 c.767G>A p.R256Q missense 0.00003306●●●●●●
55. 103705038 c.517G>A p.V173I missense 0.00003298●●●●●●
56. 103710679 c.431G>T p.C144F missense 0.00003298●●●●●●
57. 103710656 c.454T>C p.W152R missense 0.00003297●●●●●●
58. 103718268 c.332C>T p.A111V missense 0.00003297●●●●●●
59. 103718319 c.281C>T p.P94L missense 0.00003295●●●●●●
60. 103718400 c.200G>A p.G67D missense 0.00003295●●●●●●
61. 103718493 c.107C>T p.T36M missense 0.00003295●●●●●●
62. 103718409 c.191G>A p.R64Q missense 0.00003295●●●●●●
63. 103703622 c.746G>A p.G249D missense 0.00002490●●●●●●
64. 103703638 c.730C>A p.L244M missense 0.00002489●●●●●●
65. 103703745 c.623T>C p.I208T missense 0.00002478●●●●●●
66. 103718236 c.364G>A p.D122N missense 0.00002477●●●●●●
67. 103718242 c.358G>A p.D120N missense 0.00002475●●●●●●
68. 103710670 c.440T>A p.I147N missense 0.00002473●●●●●●
69. 103710631 c.479T>C p.I160T missense 0.00002472●●●●●●
70. 103701743 c.815C>A p.T272N missense 0.00002472●●●●●●
71. 103701678 c.880A>G p.S294G missense 0.00002472●●●●●●
72. 103701663 c.895G>A p.A299T missense 0.00002472●●●●●●
73. 103701696 c.862A>T p.T288S missense 0.00002472●●●●●●
74. 103701702 c.856G>A p.V286I missense 0.00002472●●●●●●
75. 103718305 c.295G>T p.V99L missense 0.00002471●●●●●●
76. 103718464 c.136A>G p.M46V missense 0.00002471●●●●●●
77. 103698605 c.925G>C p.V309L missense 0.00001684●●●●●●
78. 103703769 c.599C>T p.A200V missense 0.00001658●●●●●●
79. 103703652 c.716C>A p.S239Y missense 0.00001657●●●●●●
80. 103703658 c.710G>T p.G237V missense 0.00001655●●●●●●
81. 103703759 c.609C>G p.I203M missense 0.00001655●●●●●●
82. 103718226 c.374T>G p.L125R missense 0.00001652●●●●●●
83. 103718239 c.361G>A p.G121S missense 0.00001651●●●●●●
84. 103710698 c.412C>T p.L138F missense 0.00001650●●●●●●
85. 103710703 c.407T>C p.L136P missense 0.00001650●●●●●●
86. 103718242 c.358G>C p.D120H missense 0.00001650●●●●●●
87. 103710676 c.434T>C p.L145P missense 0.00001649●●●●●●
88. 103718250 c.350A>C p.Y117S missense 0.00001649●●●●●●
89. 103698506 c.1024G>A p.G342R missense 0.00001649●●●●●●
90. 103705001 c.554A>T p.K185I missense 0.00001649●●●●●●
91. 103705008 c.547A>C p.N183H missense 0.00001649●●●●●●
92. 103705043 c.512C>T p.S171F missense 0.00001649●●●●●●
93. 103701647 c.911T>G p.F304C missense 0.00001648●●●●●●
94. 103710626 c.484T>C p.Y162H missense 0.00001648●●●●●●
95. 103701667 c.891G>C p.Q297H missense 0.00001648●●●●●●
96. 103718383 c.217C>T p.L73F missense 0.00001648●●●●●●
97. 103701641 c.917G>A p.G306E missense 0.00001648●●●●●●
98. 103701720 c.838C>G p.P280A missense 0.00001648●●●●●●
99. 103718292 c.308T>C p.I103T missense 0.00001648●●●●●●
100. 103718389 c.211G>A p.G71S missense 0.00001648●●●●●●
101. 103718521 c.79A>G p.N27D missense 0.00001648●●●●●●
102. 103701749 c.809G>A p.C270Y missense 0.00001648●●●●●●
103. 103718500 c.100C>A p.L34I missense 0.00001648●●●●●●
104. 103718416 c.184A>G p.I62V missense 0.00001647●●●●●●
105. 103718467 c.133G>A p.V45M missense 0.00001647●●●●●●
106. 103718597 c.3G>A p.Met1? missense 0.00000855●●●●●●
107. 103718592 c.8A>T p.D3V missense 0.00000851●●●●●●
108. 103718590 c.10C>A p.P4T missense 0.00000849●●●●●●
109. 103718586 c.14A>G p.N5S missense 0.00000847●●●●●●
110. 103718581 c.19T>G p.C7G missense 0.00000844●●●●●●
111. 103718579 c.21T>G p.C7W missense 0.00000842●●●●●●
112. 103698592 c.938A>G p.K313R missense 0.00000838●●●●●●
113. 103698575 c.955A>C p.K319Q missense 0.00000832●●●●●●
114. 103698571 c.959C>T p.A320V missense 0.00000831●●●●●●
115. 103698572 c.958G>A p.A320T missense 0.00000831●●●●●●
116. 103703611 c.757T>C p.Y253H missense 0.00000831●●●●●●
117. 103703625 c.743C>G p.A248G missense 0.00000830●●●●●●
118. 103703629 c.739A>G p.I247V missense 0.00000830●●●●●●
119. 103703619 c.749T>G p.L250R missense 0.00000830●●●●●●
120. 103703632 c.736A>G p.R246G missense 0.00000830●●●●●●
121. 103703770 c.598G>A p.A200T missense 0.00000829●●●●●●
122. 103703647 c.721G>T p.G241W missense 0.00000829●●●●●●
123. 103698548 c.982A>G p.N328D missense 0.00000827●●●●●●
124. 103703668 c.700C>G p.P234A missense 0.00000827●●●●●●
125. 103698554 c.976A>G p.K326E missense 0.00000827●●●●●●
126. 103718556 c.44C>G p.S15C missense 0.00000827●●●●●●
127. 103698555 c.975C>G p.S325R missense 0.00000827●●●●●●
128. 103703662 c.706G>A p.A236T missense 0.00000827●●●●●●
129. 103703698 c.670C>A p.P224T missense 0.00000826●●●●●●
130. 103703685 c.683T>C p.I228T missense 0.00000826●●●●●●
131. 103718228 c.372C>A p.D124E missense 0.00000826●●●●●●
132. 103718548 c.52T>C p.S18P missense 0.00000826●●●●●●
133. 103705047 c.508G>T p.V170F missense 0.00000826●●●●●●
134. 103710727 c.383G>T p.S128I missense 0.00000826●●●●●●
135. 103703713 c.655G>C p.A219P missense 0.00000826●●●●●●
136. 103705047 c.508G>A p.V170I missense 0.00000826●●●●●●
137. 103703749 c.619C>T p.L207F missense 0.00000826●●●●●●
138. 103703691 c.677T>A p.L226Q missense 0.00000826●●●●●●
139. 103703726 c.642A>G p.I214M missense 0.00000826●●●●●●
140. 103703691 c.677T>G p.L226R missense 0.00000826●●●●●●
141. 103703730 c.638G>A p.G213E missense 0.00000826●●●●●●
142. 103703736 c.632T>C p.V211A missense 0.00000826●●●●●●
143. 103705052 c.503C>T p.S168F missense 0.00000826●●●●●●
144. 103718227 c.373C>G p.L125V missense 0.00000826●●●●●●
145. 103718547 c.53C>G p.S18C missense 0.00000826●●●●●●
146. 103703737 c.631G>A p.V211I missense 0.00000826●●●●●●
147. 103704992 c.563A>C p.Q188P missense 0.00000825●●●●●●
148. 103710707 c.403C>A p.L135M missense 0.00000825●●●●●●
149. 103704987 c.568G>C p.A190P missense 0.00000825●●●●●●
150. 103701774 c.784A>C p.T262P missense 0.00000825●●●●●●
151. 103705016 c.539T>G p.M180R missense 0.00000825●●●●●●
152. 103698491 c.1039G>A p.E347K missense 0.00000825●●●●●●
153. 103705004 c.551A>G p.H184R missense 0.00000825●●●●●●
154. 103718248 c.352T>A p.W118R missense 0.00000825●●●●●●
155. 103704996 c.559C>T p.P187S missense 0.00000825●●●●●●
156. 103704976 c.579A>G p.I193M missense 0.00000825●●●●●●
157. 103710709 c.401C>T p.T134I missense 0.00000825●●●●●●
158. 103718539 c.61G>A p.V21I missense 0.00000825●●●●●●
159. 103704978 c.577A>G p.I193V missense 0.00000825●●●●●●
160. 103710690 c.420G>A p.M140I missense 0.00000825●●●●●●
161. 103704989 c.566A>G p.K189R missense 0.00000825●●●●●●
162. 103698526 c.1004C>T p.S335L missense 0.00000825●●●●●●
163. 103701768 c.790A>G p.M264V missense 0.00000825●●●●●●
164. 103705011 c.544G>A p.V182I missense 0.00000825●●●●●●
165. 103710694 c.416G>A p.G139E missense 0.00000825●●●●●●
166. 103710697 c.413T>A p.L138H missense 0.00000825●●●●●●
167. 103718446 c.154A>T p.N52Y missense 0.00000824●●●●●●
168. 103701728 c.830C>G p.S277C missense 0.00000824●●●●●●
169. 103718298 c.302T>A p.L101H missense 0.00000824●●●●●●
170. 103701737 c.821T>C p.V274A missense 0.00000824●●●●●●
171. 103710668 c.442T>G p.Y148D missense 0.00000824●●●●●●
172. 103701695 c.863C>T p.T288I missense 0.00000824●●●●●●
173. 103701711 c.847C>T p.L283F missense 0.00000824●●●●●●
174. 103718284 c.316T>C p.C106R missense 0.00000824●●●●●●
175. 103701654 c.904G>A p.A302T missense 0.00000824●●●●●●
176. 103701750 c.808T>A p.C270S missense 0.00000824●●●●●●
177. 103701668 c.890A>T p.Q297L missense 0.00000824●●●●●●
178. 103718304 c.296T>G p.V99G missense 0.00000824●●●●●●
179. 103710628 c.482C>G p.P161R missense 0.00000824●●●●●●
180. 103718531 c.69G>C p.E23D missense 0.00000824●●●●●●
181. 103718452 c.148G>A p.G50R missense 0.00000824●●●●●●
182. 103701641 c.917G>C p.G306A missense 0.00000824●●●●●●
183. 103718472 c.128C>T p.A43V missense 0.00000824●●●●●●
184. 103701740 c.818T>C p.I273T missense 0.00000824●●●●●●
185. 103701701 c.857T>G p.V286G missense 0.00000824●●●●●●
186. 103701660 c.898T>C p.F300L missense 0.00000824●●●●●●
187. 103718435 c.165C>G p.I55M missense 0.00000824●●●●●●
188. 103718263 c.337A>G p.N113D missense 0.00000824●●●●●●
189. 103701767 c.791T>C p.M264T missense 0.00000824●●●●●●
190. 103718463 c.137T>C p.M46T missense 0.00000824●●●●●●
191. 103710638 c.472A>G p.I158V missense 0.00000824●●●●●●
192. 103701689 c.869C>G p.P290R missense 0.00000824●●●●●●
193. 103718307 c.293T>C p.V98A missense 0.00000824●●●●●●
194. 103701683 c.875T>C p.I292T missense 0.00000824●●●●●●
195. 103701729 c.829T>G p.S277A missense 0.00000824●●●●●●
196. 103701665 c.893T>C p.L298P missense 0.00000824●●●●●●
197. 103701643 c.915A>T p.L305F missense 0.00000824●●●●●●
198. 103718296 c.304A>G p.I102V missense 0.00000824●●●●●●
199. 103718437 c.163A>C p.I55L missense 0.00000824●●●●●●
200. 103718293 c.307A>G p.I103V missense 0.00000824●●●●●●
201. 103710671 c.439A>T p.I147F missense 0.00000824●●●●●●
202. 103701692 c.866T>A p.F289Y missense 0.00000824●●●●●●
203. 103718392 c.208G>A p.V70I missense 0.00000824●●●●●●
204. 103718415 c.185T>G p.I62R missense 0.00000824●●●●●●
205. 103718365 c.235A>G p.M79V missense 0.00000824●●●●●●
206. 103718284 c.316T>A p.C106S missense 0.00000824●●●●●●
207. 103705035 c.520G>T p.V174F missense 0.00000824●●●●●●
208. 103701750 c.808T>C p.C270R missense 0.00000824●●●●●●
209. 103718428 c.172T>C p.F58L 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.