SLMAP missense variants in ExAC

SLMAP gene summary
SLMAP variants in

The table below lists the SLMAP 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. 57902766 c.2170A>T p.S724C missense 0.00086732●●●●●●
2. 57898399 c.1889A>G p.Q630R missense 0.00041072●●●●●●
3. 57898147 c.1637G>T p.R546L missense 0.00030500●●●●●●
4. 57898980 c.2014C>T p.R672W missense 0.00019069●●●●●●
5. 57898906 c.1940A>G p.K647R missense 0.00016512●●●●●●
6. 57875813 c.1244C>A p.T415K missense 0.00014836●●●●●●
7. 57908707 c.2300A>G p.Q767R missense 0.00013191●●●●●●
8. 57850420 c.1112A>G p.N371S missense 0.00010749●●●●●●
9. 57898111 c.1601A>G p.Q534R missense 0.00007448●●●●●●
10. 57902725 c.2129A>C p.E710A missense 0.00007422●●●●●●
11. 57743409 c.31C>T p.R11C missense 0.00006622●●●●●●
12. 57875782 c.1213G>A p.E405K missense 0.00006592●●●●●●
13. 57913080 c.2401C>G p.L801V missense 0.00006430●●●●●●
14. 57898311 c.1801C>T p.R601W missense 0.00005777●●●●●●
15. 57898179 c.1669A>G p.R557G missense 0.00005769●●●●●●
16. 57743569 c.191C>T p.T64M missense 0.00005031●●●●●●
17. 57827086 c.407G>A p.R136Q missense 0.00004964●●●●●●
18. 57847677 c.830G>A p.R277Q missense 0.00004962●●●●●●
19. 57847709 c.862C>T p.H288Y missense 0.00004128●●●●●●
20. 57898929 c.1963G>A p.E655K missense 0.00004128●●●●●●
21. 57894833 c.1553G>A p.R518Q missense 0.00004127●●●●●●
22. 57843482 c.542T>C p.M181T missense 0.00004123●●●●●●
23. 57898421 c.1911G>T p.R637S missense 0.00003424●●●●●●
24. 57882242 c.1263T>G p.N421K missense 0.00003399●●●●●●
25. 57846558 c.820G>C p.E274Q missense 0.00003334●●●●●●
26. 57850350 c.1042G>A p.E348K missense 0.00003322●●●●●●
27. 57893625 c.1414G>T p.A472S missense 0.00003320●●●●●●
28. 57850371 c.1063G>A p.E355K missense 0.00003314●●●●●●
29. 57850402 c.1094C>A p.A365D missense 0.00003307●●●●●●
30. 57847798 c.951A>C p.L317F missense 0.00002481●●●●●●
31. 57893733 c.1522G>A p.A508T missense 0.00002481●●●●●●
32. 57847775 c.928G>A p.A310T missense 0.00002477●●●●●●
33. 57847754 c.907T>G p.L303V missense 0.00002477●●●●●●
34. 57898312 c.1802G>A p.R601Q missense 0.00002476●●●●●●
35. 57894868 c.1588G>A p.V530I missense 0.00002475●●●●●●
36. 57882635 c.1375C>T p.L459F missense 0.00002475●●●●●●
37. 57898131 c.1621G>A p.D541N missense 0.00002474●●●●●●
38. 57843512 c.572G>A p.R191Q missense 0.00002473●●●●●●
39. 57857370 c.1143G>C p.L381F missense 0.00002473●●●●●●
40. 57832944 c.440C>G p.P147R missense 0.00002473●●●●●●
41. 57898198 c.1688C>T p.A563V missense 0.00002472●●●●●●
42. 57882308 c.1329C>G p.D443E missense 0.00002079●●●●●●
43. 57882300 c.1321A>T p.S441C missense 0.00002031●●●●●●
44. 57882283 c.1304G>A p.S435N missense 0.00001946●●●●●●
45. 57846448 c.710G>A p.R237Q missense 0.00001814●●●●●●
46. 57846461 c.723A>G p.I241M missense 0.00001730●●●●●●
47. 57899001 c.2035A>G p.N679D missense 0.00001685●●●●●●
48. 57817252 c.341G>A p.R114Q missense 0.00001676●●●●●●
49. 57846562 c.824T>C p.V275A missense 0.00001669●●●●●●
50. 57743395 c.17C>T p.A6V missense 0.00001660●●●●●●
51. 57908632 c.2225C>T p.T742I missense 0.00001656●●●●●●
52. 57898972 c.2006A>G p.E669G missense 0.00001655●●●●●●
53. 57817215 c.304A>G p.I102V missense 0.00001651●●●●●●
54. 57893722 c.1511T>G p.F504C missense 0.00001651●●●●●●
55. 57847704 c.857G>A p.C286Y missense 0.00001651●●●●●●
56. 57847758 c.911C>T p.A304V missense 0.00001651●●●●●●
57. 57908746 c.2339A>G p.N780S missense 0.00001651●●●●●●
58. 57843845 c.646C>T p.R216W missense 0.00001650●●●●●●
59. 57908734 c.2327G>A p.R776Q missense 0.00001650●●●●●●
60. 57882641 c.1381A>G p.K461E missense 0.00001650●●●●●●
61. 57857395 c.1168A>G p.T390A missense 0.00001650●●●●●●
62. 57857414 c.1187T>C p.I396T missense 0.00001650●●●●●●
63. 57902683 c.2087T>A p.M696K missense 0.00001649●●●●●●
64. 57832950 c.446C>T p.P149L missense 0.00001649●●●●●●
65. 57908712 c.2305A>G p.K769E missense 0.00001649●●●●●●
66. 57832925 c.421G>A p.V141I missense 0.00001649●●●●●●
67. 57843503 c.563C>T p.T188M missense 0.00001649●●●●●●
68. 57902707 c.2111A>T p.Q704L missense 0.00001649●●●●●●
69. 57875801 c.1232C>T p.A411V missense 0.00001648●●●●●●
70. 57875804 c.1235T>C p.V412A missense 0.00001648●●●●●●
71. 57875785 c.1216G>A p.G406R missense 0.00001648●●●●●●
72. 57835506 c.482A>C p.Y161S missense 0.00001648●●●●●●
73. 57875779 c.1210G>A p.V404I missense 0.00001648●●●●●●
74. 57898263 c.1753A>G p.I585V missense 0.00001648●●●●●●
75. 57898231 c.1721C>T p.A574V missense 0.00001648●●●●●●
76. 57913037 c.2358G>T p.W786C missense 0.00001106●●●●●●
77. 57913045 c.2366T>C p.M789T missense 0.00001079●●●●●●
78. 57913053 c.2374G>A p.A792T missense 0.00001067●●●●●●
79. 57913054 c.2375C>T p.A792V missense 0.00001065●●●●●●
80. 57882267 c.1288T>A p.F430I missense 0.00000982●●●●●●
81. 57882274 c.1295A>C p.D432A missense 0.00000972●●●●●●
82. 57846460 c.722T>C p.I241T missense 0.00000867●●●●●●
83. 57817257 c.346G>C p.V116L missense 0.00000841●●●●●●
84. 57898398 c.1888C>A p.Q630K missense 0.00000838●●●●●●
85. 57898396 c.1886A>T p.D629V missense 0.00000838●●●●●●
86. 57898390 c.1880G>A p.C627Y missense 0.00000837●●●●●●
87. 57850296 c.988G>A p.E330K missense 0.00000836●●●●●●
88. 57898387 c.1877A>G p.Q626R missense 0.00000836●●●●●●
89. 57898389 c.1879T>C p.C627R missense 0.00000836●●●●●●
90. 57846564 c.826G>A p.E276K missense 0.00000835●●●●●●
91. 57743563 c.185A>G p.H62R missense 0.00000835●●●●●●
92. 57846499 c.761C>T p.A254V missense 0.00000834●●●●●●
93. 57743562 c.184C>A p.H62N missense 0.00000834●●●●●●
94. 57846517 c.779G>A p.R260Q missense 0.00000833●●●●●●
95. 57827029 c.350C>T p.T117I missense 0.00000832●●●●●●
96. 57846541 c.803T>C p.V268A missense 0.00000832●●●●●●
97. 57902793 c.2197G>T p.V733L missense 0.00000831●●●●●●
98. 57827031 c.352C>T p.H118Y missense 0.00000831●●●●●●
99. 57850339 c.1031A>G p.H344R missense 0.00000831●●●●●●
100. 57743550 c.172G>C p.V58L missense 0.00000830●●●●●●
101. 57898981 c.2015G>A p.R672Q missense 0.00000830●●●●●●
102. 57908626 c.2219C>T p.T740I missense 0.00000829●●●●●●
103. 57882603 c.1343C>A p.A448D missense 0.00000829●●●●●●
104. 57850366 c.1058A>T p.E353V missense 0.00000829●●●●●●
105. 57882603 c.1343C>G p.A448G missense 0.00000829●●●●●●
106. 57898346 c.1836A>T p.E612D missense 0.00000829●●●●●●
107. 57827092 c.413G>A p.R138H missense 0.00000828●●●●●●
108. 57850440 c.1132C>A p.Q378K missense 0.00000828●●●●●●
109. 57827091 c.412C>T p.R138C missense 0.00000828●●●●●●
110. 57827050 c.371C>T p.T124I missense 0.00000828●●●●●●
111. 57743403 c.25A>T p.T9S missense 0.00000828●●●●●●
112. 57850393 c.1085C>T p.A362V missense 0.00000827●●●●●●
113. 57827055 c.376A>G p.K126E missense 0.00000827●●●●●●
114. 57850413 c.1105T>G p.F369V missense 0.00000827●●●●●●
115. 57898327 c.1817C>T p.A606V missense 0.00000827●●●●●●
116. 57850439 c.1131A>C p.L377F missense 0.00000827●●●●●●
117. 57882615 c.1355A>T p.E452V missense 0.00000827●●●●●●
118. 57827071 c.392A>G p.D131G missense 0.00000827●●●●●●
119. 57847677 c.830G>C p.R277P missense 0.00000827●●●●●●
120. 57850417 c.1109C>G p.T370S missense 0.00000827●●●●●●
121. 57847794 c.947A>T p.D316V missense 0.00000827●●●●●●
122. 57902776 c.2180A>G p.E727G missense 0.00000827●●●●●●
123. 57902635 c.2039C>A p.S680Y missense 0.00000827●●●●●●
124. 57850408 c.1100A>G p.N367S missense 0.00000827●●●●●●
125. 57898114 c.1604T>C p.L535S missense 0.00000827●●●●●●
126. 57850427 c.1119G>C p.R373S missense 0.00000827●●●●●●
127. 57847797 c.950T>C p.L317S missense 0.00000827●●●●●●
128. 57850411 c.1103A>G p.D368G missense 0.00000827●●●●●●
129. 57843882 c.683C>G p.S228C missense 0.00000826●●●●●●
130. 57908661 c.2254G>A p.E752K missense 0.00000826●●●●●●
131. 57882622 c.1362C>A p.D454E missense 0.00000826●●●●●●
132. 57894826 c.1546G>T p.A516S missense 0.00000826●●●●●●
133. 57847764 c.917A>G p.K306R missense 0.00000826●●●●●●
134. 57847788 c.941T>G p.I314S missense 0.00000826●●●●●●
135. 57847703 c.856T>C p.C286R missense 0.00000826●●●●●●
136. 57847766 c.919T>C p.Y307H missense 0.00000826●●●●●●
137. 57898951 c.1985A>G p.E662G missense 0.00000826●●●●●●
138. 57902647 c.2051G>A p.S684N missense 0.00000826●●●●●●
139. 57902649 c.2053T>G p.L685V missense 0.00000826●●●●●●
140. 57847787 c.940A>G p.I314V missense 0.00000826●●●●●●
141. 57902729 c.2133G>C p.Q711H missense 0.00000825●●●●●●
142. 57847731 c.884G>A p.R295K missense 0.00000825●●●●●●
143. 57908667 c.2260A>T p.T754S missense 0.00000825●●●●●●
144. 57902661 c.2065A>G p.S689G missense 0.00000825●●●●●●
145. 57857419 c.1192T>C p.C398R missense 0.00000825●●●●●●
146. 57843472 c.532C>G p.R178G missense 0.00000825●●●●●●
147. 57893681 c.1470C>G p.I490M missense 0.00000825●●●●●●
148. 57847722 c.875T>A p.M292K missense 0.00000825●●●●●●
149. 57902655 c.2059C>G p.L687V missense 0.00000825●●●●●●
150. 57902736 c.2140C>T p.R714W missense 0.00000825●●●●●●
151. 57894872 c.1592T>G p.L531R missense 0.00000825●●●●●●
152. 57847749 c.902G>A p.R301K missense 0.00000825●●●●●●
153. 57743440 c.62A>G p.H21R missense 0.00000825●●●●●●
154. 57908696 c.2289T>G p.D763E missense 0.00000825●●●●●●
155. 57902664 c.2068G>T p.D690Y missense 0.00000825●●●●●●
156. 57843835 c.636A>T p.R212S missense 0.00000825●●●●●●
157. 57902746 c.2150C>T p.A717V missense 0.00000825●●●●●●
158. 57893709 c.1498A>G p.K500E missense 0.00000825●●●●●●
159. 57847722 c.875T>C p.M292T missense 0.00000825●●●●●●
160. 57857379 c.1152G>C p.K384N missense 0.00000825●●●●●●
161. 57843464 c.524C>G p.A175G missense 0.00000825●●●●●●
162. 57847739 c.892G>A p.E298K missense 0.00000825●●●●●●
163. 57908699 c.2292G>T p.E764D missense 0.00000825●●●●●●
164. 57902673 c.2077A>G p.I693V missense 0.00000825●●●●●●
165. 57908736 c.2329G>C p.E777Q missense 0.00000825●●●●●●
166. 57843876 c.677C>T p.A226V missense 0.00000825●●●●●●
167. 57847727 c.880G>A p.E294K missense 0.00000825●●●●●●
168. 57843825 c.626A>G p.D209G missense 0.00000825●●●●●●
169. 57908663 c.2256A>C p.E752D missense 0.00000825●●●●●●
170. 57843467 c.527T>C p.L176S missense 0.00000825●●●●●●
171. 57902662 c.2066G>T p.S689I missense 0.00000825●●●●●●
172. 57898314 c.1804T>A p.W602R missense 0.00000825●●●●●●
173. 57847721 c.874A>G p.M292V missense 0.00000825●●●●●●
174. 57835504 c.480G>C p.M160I missense 0.00000824●●●●●●
175. 57835500 c.476G>A p.S159N missense 0.00000824●●●●●●
176. 57898206 c.1696G>A p.E566K missense 0.00000824●●●●●●
177. 57832932 c.428A>G p.H143R missense 0.00000824●●●●●●
178. 57898252 c.1742G>A p.R581Q missense 0.00000824●●●●●●
179. 57898146 c.1636C>T p.R546W missense 0.00000824●●●●●●
180. 57875810 c.1241A>G p.E414G missense 0.00000824●●●●●●
181. 57835503 c.479T>C p.M160T missense 0.00000824●●●●●●
182. 57857377 c.1150A>G p.K384E missense 0.00000824●●●●●●
183. 57835513 c.489G>C p.Q163H missense 0.00000824●●●●●●
184. 57898218 c.1708C>T p.L570F missense 0.00000824●●●●●●
185. 57832935 c.431C>A p.A144E missense 0.00000824●●●●●●
186. 57875791 c.1222C>G p.L408V missense 0.00000824●●●●●●
187. 57875768 c.1199A>G p.K400R missense 0.00000824●●●●●●
188. 57835496 c.472C>G p.P158A missense 0.00000824●●●●●●
189. 57898147 c.1637G>A p.R546Q missense 0.00000824●●●●●●
190. 57898183 c.1673A>T p.D558V missense 0.00000824●●●●●●
191. 57835530 c.506C>T p.S169F missense 0.00000824●●●●●●
192. 57875819 c.1250T>G p.L417R missense 0.00000824●●●●●●
193. 57898222 c.1712A>G p.H571R missense 0.00000824●●●●●●
194. 57898171 c.1661C>A p.T554K missense 0.00000824●●●●●●
195. 57875795 c.1226C>G p.T409S missense 0.00000824●●●●●●
196. 57857365 c.1138C>A p.H380N missense 0.00000824●●●●●●
197. 57835504 c.480G>A p.M160I missense 0.00000824●●●●●●
198. 57835497 c.473C>T p.P158L missense 0.00000824●●●●●●
199. 57875821 c.1252T>C p.S418P missense 0.00000824●●●●●●
200. 57832946 c.442A>G p.S148G missense 0.00000824●●●●●●
201. 57898173 c.1663A>G p.S555G missense 0.00000824●●●●●●
202. 57908706 c.2299C>G p.Q767E missense 0.00000824●●●●●●
203. 57835503 c.479T>G p.M160R 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.