SLMAP variants in ExAC

SLMAP gene summary
SLMAP variants in

The table below lists the SLMAP 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. 57882601 c.1341C>T p.D447D splice site 0.29594207●●●●●●
2. 57846577 c.828+11C>A splice site 0.24865826●●●●●●
3. 57902766 c.2170A>T p.S724C missense 0.00086732●●●●●●
4. 57898399 c.1889A>G p.Q630R missense 0.00041072●●●●●●
5. 57898433 c.1918+5A>G splice site 0.00031847●●●●●●
6. 57898147 c.1637G>T p.R546L missense 0.00030500●●●●●●
7. 57898980 c.2014C>T p.R672W missense 0.00019069●●●●●●
8. 57843561 c.615+6C>T splice site 0.00018408●●●●●●
9. 57898906 c.1940A>G p.K647R missense 0.00016512●●●●●●
10. 57875813 c.1244C>A p.T415K missense 0.00014836●●●●●●
11. 57908707 c.2300A>G p.Q767R missense 0.00013191●●●●●●
12. 57857358 c.1136-5A>G splice site 0.00012366●●●●●●
13. 57850420 c.1112A>G p.N371S missense 0.00010749●●●●●●
14. 57743581 c.198+5T>C splice site 0.00009328●●●●●●
15. 57898111 c.1601A>G p.Q534R missense 0.00007448●●●●●●
16. 57902725 c.2129A>C p.E710A missense 0.00007422●●●●●●
17. 57743409 c.31C>T p.R11C missense 0.00006622●●●●●●
18. 57875782 c.1213G>A p.E405K missense 0.00006592●●●●●●
19. 57913080 c.2401C>G p.L801V missense 0.00006430●●●●●●
20. 57898311 c.1801C>T p.R601W missense 0.00005777●●●●●●
21. 57898179 c.1669A>G p.R557G missense 0.00005769●●●●●●
22. 57743569 c.191C>T p.T64M missense 0.00005031●●●●●●
23. 57827086 c.407G>A p.R136Q missense 0.00004964●●●●●●
24. 57847677 c.830G>A p.R277Q missense 0.00004962●●●●●●
25. 57893734 c.1522+1G>T essential splice site 0.00004137●●●●●●
26. 57847709 c.862C>T p.H288Y missense 0.00004128●●●●●●
27. 57898929 c.1963G>A p.E655K missense 0.00004128●●●●●●
28. 57894833 c.1553G>A p.R518Q missense 0.00004127●●●●●●
29. 57843482 c.542T>C p.M181T missense 0.00004123●●●●●●
30. 57898421 c.1911G>T p.R637S missense 0.00003424●●●●●●
31. 57882242 c.1263T>G p.N421K missense 0.00003399●●●●●●
32. 57817261 c.346+4C>T splice site 0.00003381●●●●●●
33. 57846558 c.820G>C p.E274Q missense 0.00003334●●●●●●
34. 57850350 c.1042G>A p.E348K missense 0.00003322●●●●●●
35. 57893625 c.1414G>T p.A472S missense 0.00003320●●●●●●
36. 57850371 c.1063G>A p.E355K missense 0.00003314●●●●●●
37. 57850402 c.1094C>A p.A365D missense 0.00003307●●●●●●
38. 57846421 c.688-5T>C splice site 0.00002744●●●●●●
39. 57843563 c.615+8A>G splice site 0.00002519●●●●●●
40. 57893733 c.1522G>A p.A508T missense 0.00002481●●●●●●
41. 57847798 c.951A>C p.L317F missense 0.00002481●●●●●●
42. 57843452 c.520-8A>G splice site 0.00002480●●●●●●
43. 57847775 c.928G>A p.A310T missense 0.00002477●●●●●●
44. 57847754 c.907T>G p.L303V missense 0.00002477●●●●●●
45. 57898312 c.1802G>A p.R601Q missense 0.00002476●●●●●●
46. 57835553 c.519+10C>T splice site 0.00002475●●●●●●
47. 57882635 c.1375C>T p.L459F missense 0.00002475●●●●●●
48. 57894868 c.1588G>A p.V530I missense 0.00002475●●●●●●
49. 57898131 c.1621G>A p.D541N missense 0.00002474●●●●●●
50. 57832944 c.440C>G p.P147R missense 0.00002473●●●●●●
51. 57843512 c.572G>A p.R191Q missense 0.00002473●●●●●●
52. 57857370 c.1143G>C p.L381F missense 0.00002473●●●●●●
53. 57898198 c.1688C>T p.A563V missense 0.00002472●●●●●●
54. 57882308 c.1329C>G p.D443E missense 0.00002079●●●●●●
55. 57882300 c.1321A>T p.S441C missense 0.00002031●●●●●●
56. 57882283 c.1304G>A p.S435N missense 0.00001946●●●●●●
57. 57846448 c.710G>A p.R237Q missense 0.00001814●●●●●●
58. 57898434 c.1918+6T>A splice site 0.00001784●●●●●●
59. 57846461 c.723A>G p.I241M missense 0.00001730●●●●●●
60. 57899001 c.2035A>G p.N679D missense 0.00001685●●●●●●
61. 57817252 c.341G>A p.R114Q missense 0.00001676●●●●●●
62. 57846562 c.824T>C p.V275A missense 0.00001669●●●●●●
63. 57743395 c.17C>T p.A6V missense 0.00001660●●●●●●
64. 57847820 c.966+7A>G splice site 0.00001657●●●●●●
65. 57908632 c.2225C>T p.T742I missense 0.00001656●●●●●●
66. 57898972 c.2006A>G p.E669G missense 0.00001655●●●●●●
67. 57893735 c.1522+2delT essential splice site 0.00001655●●●●●●
68. 57847704 c.857G>A p.C286Y missense 0.00001651●●●●●●
69. 57817215 c.304A>G p.I102V missense 0.00001651●●●●●●
70. 57908746 c.2339A>G p.N780S missense 0.00001651●●●●●●
71. 57893722 c.1511T>G p.F504C missense 0.00001651●●●●●●
72. 57847758 c.911C>T p.A304V missense 0.00001651●●●●●●
73. 57843845 c.646C>T p.R216W missense 0.00001650●●●●●●
74. 57908734 c.2327G>A p.R776Q missense 0.00001650●●●●●●
75. 57857414 c.1187T>C p.I396T missense 0.00001650●●●●●●
76. 57882641 c.1381A>G p.K461E missense 0.00001650●●●●●●
77. 57857395 c.1168A>G p.T390A missense 0.00001650●●●●●●
78. 57832925 c.421G>A p.V141I missense 0.00001649●●●●●●
79. 57902683 c.2087T>A p.M696K missense 0.00001649●●●●●●
80. 57908712 c.2305A>G p.K769E missense 0.00001649●●●●●●
81. 57832950 c.446C>T p.P149L missense 0.00001649●●●●●●
82. 57902707 c.2111A>T p.Q704L missense 0.00001649●●●●●●
83. 57843503 c.563C>T p.T188M missense 0.00001649●●●●●●
84. 57875785 c.1216G>A p.G406R missense 0.00001648●●●●●●
85. 57835506 c.482A>C p.Y161S missense 0.00001648●●●●●●
86. 57898231 c.1721C>T p.A574V missense 0.00001648●●●●●●
87. 57875804 c.1235T>C p.V412A missense 0.00001648●●●●●●
88. 57875779 c.1210G>A p.V404I missense 0.00001648●●●●●●
89. 57875801 c.1232C>T p.A411V missense 0.00001648●●●●●●
90. 57898263 c.1753A>G p.I585V missense 0.00001648●●●●●●
91. 57882231 c.1259-7T>G splice site 0.00001392●●●●●●
92. 57913114 c.2435G>A nonsense 0.00001174●●●●●●
93. 57913037 c.2358G>T p.W786C missense 0.00001106●●●●●●
94. 57913045 c.2366T>C p.M789T missense 0.00001079●●●●●●
95. 57913053 c.2374G>A p.A792T missense 0.00001067●●●●●●
96. 57913054 c.2375C>T p.A792V missense 0.00001065●●●●●●
97. 57882267 c.1288T>A p.F430I missense 0.00000982●●●●●●
98. 57882274 c.1295A>C p.D432A missense 0.00000972●●●●●●
99. 57846460 c.722T>C p.I241T missense 0.00000867●●●●●●
100. 57743583 c.198+7T>C splice site 0.00000850●●●●●●
101. 57902811 c.2208+7C>T splice site 0.00000847●●●●●●
102. 57882590 c.1340-10C>T splice site 0.00000846●●●●●●
103. 57817261 c.346+4C>G splice site 0.00000845●●●●●●
104. 57817262 c.346+5delG splice site 0.00000845●●●●●●
105. 57817261 c.346+4C>A splice site 0.00000845●●●●●●
106. 57850268 c.967-7T>C splice site 0.00000844●●●●●●
107. 57902807 c.2208+3A>G splice site 0.00000843●●●●●●
108. 57882594 c.1340-6C>G splice site 0.00000841●●●●●●
109. 57817257 c.346G>C p.V116L missense 0.00000841●●●●●●
110. 57898398 c.1888C>A p.Q630K missense 0.00000838●●●●●●
111. 57827019 c.347-7C>G splice site 0.00000838●●●●●●
112. 57898396 c.1886A>T p.D629V missense 0.00000838●●●●●●
113. 57898390 c.1880G>A p.C627Y missense 0.00000837●●●●●●
114. 57850296 c.988G>A p.E330K missense 0.00000836●●●●●●
115. 57898389 c.1879T>C p.C627R missense 0.00000836●●●●●●
116. 57898387 c.1877A>G p.Q626R missense 0.00000836●●●●●●
117. 57743563 c.185A>G p.H62R missense 0.00000835●●●●●●
118. 57846564 c.826G>A p.E276K missense 0.00000835●●●●●●
119. 57846499 c.761C>T p.A254V missense 0.00000834●●●●●●
120. 57743562 c.184C>A p.H62N missense 0.00000834●●●●●●
121. 57846517 c.779G>A p.R260Q missense 0.00000833●●●●●●
122. 57898101 c.1598-7T>G splice site 0.00000833●●●●●●
123. 57827029 c.350C>T p.T117I missense 0.00000832●●●●●●
124. 57846541 c.803T>C p.V268A missense 0.00000832●●●●●●
125. 57827031 c.352C>T p.H118Y missense 0.00000831●●●●●●
126. 57902793 c.2197G>T p.V733L missense 0.00000831●●●●●●
127. 57850339 c.1031A>G p.H344R missense 0.00000831●●●●●●
128. 57898981 c.2015G>A p.R672Q missense 0.00000830●●●●●●
129. 57743550 c.172G>C p.V58L missense 0.00000830●●●●●●
130. 57882603 c.1343C>G p.A448G missense 0.00000829●●●●●●
131. 57898346 c.1836A>T p.E612D missense 0.00000829●●●●●●
132. 57850366 c.1058A>T p.E353V missense 0.00000829●●●●●●
133. 57908626 c.2219C>T p.T740I missense 0.00000829●●●●●●
134. 57882603 c.1343C>A p.A448D missense 0.00000829●●●●●●
135. 57847672 c.829-4G>A splice site 0.00000828●●●●●●
136. 57827092 c.413G>A p.R138H missense 0.00000828●●●●●●
137. 57827091 c.412C>T p.R138C missense 0.00000828●●●●●●
138. 57850440 c.1132C>A p.Q378K missense 0.00000828●●●●●●
139. 57827050 c.371C>T p.T124I missense 0.00000828●●●●●●
140. 57743403 c.25A>T p.T9S missense 0.00000828●●●●●●
141. 57893740 c.1522+7T>A splice site 0.00000828●●●●●●
142. 57850411 c.1103A>G p.D368G missense 0.00000827●●●●●●
143. 57902776 c.2180A>G p.E727G missense 0.00000827●●●●●●
144. 57827071 c.392A>G p.D131G missense 0.00000827●●●●●●
145. 57850439 c.1131A>C p.L377F missense 0.00000827●●●●●●
146. 57847676 c.829C>T p.R277X nonsense 0.00000827●●●●●●
147. 57898327 c.1817C>T p.A606V missense 0.00000827●●●●●●
148. 57850413 c.1105T>G p.F369V missense 0.00000827●●●●●●
149. 57882615 c.1355A>T p.E452V missense 0.00000827●●●●●●
150. 57850408 c.1100A>G p.N367S missense 0.00000827●●●●●●
151. 57847794 c.947A>T p.D316V missense 0.00000827●●●●●●
152. 57902635 c.2039C>A p.S680Y missense 0.00000827●●●●●●
153. 57850417 c.1109C>G p.T370S missense 0.00000827●●●●●●
154. 57898114 c.1604T>C p.L535S missense 0.00000827●●●●●●
155. 57847797 c.950T>C p.L317S missense 0.00000827●●●●●●
156. 57847677 c.830G>C p.R277P missense 0.00000827●●●●●●
157. 57827055 c.376A>G p.K126E missense 0.00000827●●●●●●
158. 57850427 c.1119G>C p.R373S missense 0.00000827●●●●●●
159. 57850393 c.1085C>T p.A362V missense 0.00000827●●●●●●
160. 57882622 c.1362C>A p.D454E missense 0.00000826●●●●●●
161. 57894826 c.1546G>T p.A516S missense 0.00000826●●●●●●
162. 57843882 c.683C>G p.S228C missense 0.00000826●●●●●●
163. 57847788 c.941T>G p.I314S missense 0.00000826●●●●●●
164. 57847766 c.919T>C p.Y307H missense 0.00000826●●●●●●
165. 57857433 c.1198+8C>G splice site 0.00000826●●●●●●
166. 57908661 c.2254G>A p.E752K missense 0.00000826●●●●●●
167. 57843458 c.520-2A>G essential splice site 0.00000826●●●●●●
168. 57902647 c.2051G>A p.S684N missense 0.00000826●●●●●●
169. 57847703 c.856T>C p.C286R missense 0.00000826●●●●●●
170. 57847787 c.940A>G p.I314V missense 0.00000826●●●●●●
171. 57898951 c.1985A>G p.E662G missense 0.00000826●●●●●●
172. 57847764 c.917A>G p.K306R missense 0.00000826●●●●●●
173. 57902649 c.2053T>G p.L685V missense 0.00000826●●●●●●
174. 57835548 c.519+5A>G splice site 0.00000825●●●●●●
175. 57902746 c.2150C>T p.A717V missense 0.00000825●●●●●●
176. 57908736 c.2329G>C p.E777Q missense 0.00000825●●●●●●
177. 57847731 c.884G>A p.R295K missense 0.00000825●●●●●●
178. 57894880 c.1597+3A>G splice site 0.00000825●●●●●●
179. 57902753 c.2157_2159delAAA p.Lys720del inframe 0.00000825●●●●●●
180. 57893681 c.1470C>G p.I490M missense 0.00000825●●●●●●
181. 57843464 c.524C>G p.A175G missense 0.00000825●●●●●●
182. 57908699 c.2292G>T p.E764D missense 0.00000825●●●●●●
183. 57908663 c.2256A>C p.E752D missense 0.00000825●●●●●●
184. 57902727 c.2131C>T p.Q711X nonsense 0.00000825●●●●●●
185. 57902661 c.2065A>G p.S689G missense 0.00000825●●●●●●
186. 57857419 c.1192T>C p.C398R missense 0.00000825●●●●●●
187. 57743440 c.62A>G p.H21R missense 0.00000825●●●●●●
188. 57894872 c.1592T>G p.L531R missense 0.00000825●●●●●●
189. 57847721 c.874A>G p.M292V missense 0.00000825●●●●●●
190. 57847749 c.902G>A p.R301K missense 0.00000825●●●●●●
191. 57902662 c.2066G>T p.S689I missense 0.00000825●●●●●●
192. 57893709 c.1498A>G p.K500E missense 0.00000825●●●●●●
193. 57843467 c.527T>C p.L176S missense 0.00000825●●●●●●
194. 57847739 c.892G>A p.E298K missense 0.00000825●●●●●●
195. 57847722 c.875T>C p.M292T missense 0.00000825●●●●●●
196. 57902729 c.2133G>C p.Q711H missense 0.00000825●●●●●●
197. 57902664 c.2068G>T p.D690Y missense 0.00000825●●●●●●
198. 57882666 c.1399+7T>C splice site 0.00000825●●●●●●
199. 57843835 c.636A>T p.R212S missense 0.00000825●●●●●●
200. 57902655 c.2059C>G p.L687V missense 0.00000825●●●●●●
201. 57847722 c.875T>A p.M292K missense 0.00000825●●●●●●
202. 57908667 c.2260A>T p.T754S missense 0.00000825●●●●●●
203. 57857379 c.1152G>C p.K384N missense 0.00000825●●●●●●
204. 57843472 c.532C>G p.R178G missense 0.00000825●●●●●●
205. 57847727 c.880G>A p.E294K missense 0.00000825●●●●●●
206. 57902736 c.2140C>T p.R714W missense 0.00000825●●●●●●
207. 57843876 c.677C>T p.A226V missense 0.00000825●●●●●●
208. 57843825 c.626A>G p.D209G missense 0.00000825●●●●●●
209. 57902673 c.2077A>G p.I693V missense 0.00000825●●●●●●
210. 57908696 c.2289T>G p.D763E missense 0.00000825●●●●●●
211. 57898314 c.1804T>A p.W602R missense 0.00000825●●●●●●
212. 57898206 c.1696G>A p.E566K missense 0.00000824●●●●●●
213. 57898171 c.1661C>A p.T554K missense 0.00000824●●●●●●
214. 57835503 c.479T>C p.M160T missense 0.00000824●●●●●●
215. 57835496 c.472C>G p.P158A missense 0.00000824●●●●●●
216. 57835530 c.506C>T p.S169F missense 0.00000824●●●●●●
217. 57857377 c.1150A>G p.K384E missense 0.00000824●●●●●●
218. 57898146 c.1636C>T p.R546W missense 0.00000824●●●●●●
219. 57835504 c.480G>A p.M160I missense 0.00000824●●●●●●
220. 57875810 c.1241A>G p.E414G missense 0.00000824●●●●●●
221. 57875791 c.1222C>G p.L408V missense 0.00000824●●●●●●
222. 57898252 c.1742G>A p.R581Q missense 0.00000824●●●●●●
223. 57898183 c.1673A>T p.D558V missense 0.00000824●●●●●●
224. 57908706 c.2299C>G p.Q767E missense 0.00000824●●●●●●
225. 57832946 c.442A>G p.S148G missense 0.00000824●●●●●●
226. 57835497 c.473C>T p.P158L missense 0.00000824●●●●●●
227. 57875768 c.1199A>G p.K400R missense 0.00000824●●●●●●
228. 57898218 c.1708C>T p.L570F missense 0.00000824●●●●●●
229. 57875821 c.1252T>C p.S418P missense 0.00000824●●●●●●
230. 57898147 c.1637G>A p.R546Q missense 0.00000824●●●●●●
231. 57835504 c.480G>C p.M160I missense 0.00000824●●●●●●
232. 57875819 c.1250T>G p.L417R missense 0.00000824●●●●●●
233. 57832932 c.428A>G p.H143R missense 0.00000824●●●●●●
234. 57875795 c.1226C>G p.T409S missense 0.00000824●●●●●●
235. 57857365 c.1138C>A p.H380N missense 0.00000824●●●●●●
236. 57875761 c.1199-7T>G splice site 0.00000824●●●●●●
237. 57835500 c.476G>A p.S159N missense 0.00000824●●●●●●
238. 57835503 c.479T>G p.M160R missense 0.00000824●●●●●●
239. 57898222 c.1712A>G p.H571R missense 0.00000824●●●●●●
240. 57898173 c.1663A>G p.S555G missense 0.00000824●●●●●●
241. 57835513 c.489G>C p.Q163H missense 0.00000824●●●●●●
242. 57832935 c.431C>A p.A144E missense 0.00000824●●●●●●
243. 57857360 c.1136-3T>C splice site 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.