MYLK2 variants in ExAC

MYLK2 gene summary
MYLK2 variants in DCM

The table below lists the MYLK2 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. 30414528 c.1082+11G>A splice site 0.02060920●●●●●●
2. 30408306 c.430C>G p.P144A missense 0.01338202●●●●●●
3. 30408142 c.266G>A p.G89D missense 0.00402159●●●●●●
4. 30408049 c.173C>A p.A58D missense 0.00197789●●●●●●
5. 30411298 c.791C>T p.P264L missense 0.00119171●●●●●●
6. 30421514 c.1711-6C>T splice site 0.00113805●●●●●●
7. 30408160 c.284C>A p.A95E missense 0.00078456●●●●●●
8. 30414749 c.1224+8A>C splice site 0.00070445●●●●●●
9. 30407387 c.4G>A p.A2T missense 0.00067751●●●●●●
10. 30418696 c.1295+4C>A splice site 0.00064283●●●●●●
11. 30409276 c.508G>A p.E170K missense 0.00060746●●●●●●
12. 30414721 c.1204G>T p.V402F missense 0.00034670●●●●●●
13. 30411341 c.834T>A p.N278K missense 0.00030607●●●●●●
14. 30408157 c.281C>T p.P94L missense 0.00027621●●●●●●
15. 30412085 c.902C>A p.T301N missense 0.00016651●●●●●●
16. 30421587 c.1778C>T p.A593V missense 0.00015776●●●●●●
17. 30408207 c.331C>T p.P111S missense 0.00015447●●●●●●
18. 30419931 c.1702C>T p.R568C missense 0.00014600●●●●●●
19. 30419923 c.1694T>C p.M565T missense 0.00014506●●●●●●
20. 30408136 c.260C>T p.A87V missense 0.00013728●●●●●●
21. 30408070 c.194C>T p.T65I missense 0.00013330●●●●●●
22. 30412093 c.910G>A p.E304K missense 0.00010111●●●●●●
23. 30407433 c.50C>A p.T17K missense 0.00009749●●●●●●
24. 30418650 c.1253C>T p.T418I missense 0.00009061●●●●●●
25. 30419884 c.1655G>A p.R552Q missense 0.00008019●●●●●●
26. 30408103 c.227C>T p.P76L missense 0.00007562●●●●●●
27. 30414622 c.1105G>A p.E369K missense 0.00007428●●●●●●
28. 30419855 c.1626C>A p.N542K missense 0.00006852●●●●●●
29. 30408067 c.191G>C p.G64A missense 0.00006663●●●●●●
30. 30421575 c.1766G>A p.G589E missense 0.00006624●●●●●●
31. 30418652 c.1255G>A p.G419R missense 0.00006590●●●●●●
32. 30408063 c.187G>T p.D63Y missense 0.00005826●●●●●●
33. 30408033 c.157G>A p.D53N missense 0.00005812●●●●●●
34. 30408010 c.134C>T p.P45L missense 0.00005810●●●●●●
35. 30414640 c.1123G>A p.D375N missense 0.00005773●●●●●●
36. 30408169 c.293C>T p.P98L missense 0.00005169●●●●●●
37. 30408243 c.367C>T p.P123S missense 0.00005140●●●●●●
38. 30409292 c.524C>A p.T175N missense 0.00004979●●●●●●
39. 30409325 c.557C>T p.T186M missense 0.00004974●●●●●●
40. 30419501 c.1425-5T>C splice site 0.00004948●●●●●●
41. 30414454 c.1019G>A p.R340H missense 0.00004945●●●●●●
42. 30407435 c.52G>C p.D18H missense 0.00004878●●●●●●
43. 30407433 c.50C>T p.T17I missense 0.00004875●●●●●●
44. 30407388 c.5C>A p.A2E missense 0.00004839●●●●●●
45. 30412106 c.923G>A p.G308D missense 0.00004643●●●●●●
46. 30419878 c.1649G>A p.C550Y missense 0.00004592●●●●●●
47. 30419932 c.1703G>A p.R568H missense 0.00004491●●●●●●
48. 30408339 c.463A>T p.I155F missense 0.00004342●●●●●●
49. 30408301 c.425G>T p.G142V missense 0.00004305●●●●●●
50. 30408298 c.422G>A p.R141K missense 0.00004302●●●●●●
51. 30408099 c.223G>A p.G75S missense 0.00004197●●●●●●
52. 30414694 c.1177G>A p.G393R missense 0.00004123●●●●●●
53. 30418829 c.1309G>A p.E437K missense 0.00004120●●●●●●
54. 30412068 c.885G>C p.K295N missense 0.00003803●●●●●●
55. 30419874 c.1645C>T p.R549C missense 0.00003457●●●●●●
56. 30408181 c.305C>T p.A102V missense 0.00003444●●●●●●
57. 30419877 c.1648T>G p.C550G missense 0.00003441●●●●●●
58. 30408198 c.322G>A p.V108I missense 0.00003434●●●●●●
59. 30409363 c.595A>G p.I199V missense 0.00003310●●●●●●
60. 30414490 c.1055C>T p.P352L missense 0.00003297●●●●●●
61. 30419525 c.1444T>G p.F482V missense 0.00003296●●●●●●
62. 30419532 c.1451G>A p.G484E missense 0.00003295●●●●●●
63. 30419615 c.1534G>A p.E512K missense 0.00003295●●●●●●
64. 30419827 c.1598A>G p.Q533R missense 0.00003260●●●●●●
65. 30412134 c.951G>C p.K317N missense 0.00003002●●●●●●
66. 30408135 c.259G>A p.A87T missense 0.00002574●●●●●●
67. 30411289 c.782C>T p.P261L missense 0.00002507●●●●●●
68. 30421595 c.1786G>T p.V596F missense 0.00002495●●●●●●
69. 30409279 c.511G>A p.A171T missense 0.00002494●●●●●●
70. 30409292 c.524C>T p.T175I missense 0.00002490●●●●●●
71. 30409330 c.562C>T p.P188S missense 0.00002487●●●●●●
72. 30421577 c.1768G>T p.A590S missense 0.00002484●●●●●●
73. 30409374 c.606G>C p.E202D missense 0.00002482●●●●●●
74. 30409370 c.602C>T p.A201V missense 0.00002482●●●●●●
75. 30409445 c.677G>C p.R226T missense 0.00002480●●●●●●
76. 30421556 c.1747_1749delAAG p.K583del1 inframe 0.00002476●●●●●●
77. 30421550 c.1741C>T p.R581C missense 0.00002475●●●●●●
78. 30421516 c.1711-4C>T splice site 0.00002474●●●●●●
79. 30418689 c.1292G>A p.R431Q missense 0.00002472●●●●●●
80. 30419591 c.1510G>C p.E504Q missense 0.00002471●●●●●●
81. 30419575 c.1494C>A p.N498K missense 0.00002471●●●●●●
82. 30419886 c.1657C>T p.R553C missense 0.00002288●●●●●●
83. 30419945 c.1710+6G>A splice site 0.00002285●●●●●●
84. 30419851 c.1622A>G p.N541S missense 0.00002277●●●●●●
85. 30419944 c.1710+5C>T splice site 0.00002276●●●●●●
86. 30419929 c.1700G>A p.R567K missense 0.00002243●●●●●●
87. 30419835 c.1606G>A p.A536T missense 0.00002237●●●●●●
88. 30419820 c.1591G>A p.A531T missense 0.00002147●●●●●●
89. 30412126 c.943G>A p.V315I missense 0.00001950●●●●●●
90. 30408339 c.463A>G p.I155V missense 0.00001737●●●●●●
91. 30408162 c.286G>A p.A96T missense 0.00001725●●●●●●
92. 30408279 c.403G>C p.G135R missense 0.00001717●●●●●●
93. 30408213 c.337G>T p.A113S missense 0.00001716●●●●●●
94. 30408271 c.395C>T p.A132V missense 0.00001716●●●●●●
95. 30408240 c.364G>C p.D122H missense 0.00001713●●●●●●
96. 30408126 c.250G>A p.G84R missense 0.00001711●●●●●●
97. 30408119 c.243C>G p.D81E missense 0.00001704●●●●●●
98. 30408102 c.226C>T p.P76S missense 0.00001680●●●●●●
99. 30411273 c.773-7C>T splice site 0.00001677●●●●●●
100. 30409487 c.719T>C p.V240A missense 0.00001667●●●●●●
101. 30407922 c.53-7T>C splice site 0.00001667●●●●●●
102. 30408069 c.193A>G p.T65A missense 0.00001666●●●●●●
103. 30408060 c.184G>A p.G62R missense 0.00001664●●●●●●
104. 30409483 c.715G>A p.E239K missense 0.00001664●●●●●●
105. 30409280 c.512C>A p.A171E missense 0.00001662●●●●●●
106. 30407973 c.97G>C p.G33R missense 0.00001659●●●●●●
107. 30409472 c.704C>T p.S235L missense 0.00001658●●●●●●
108. 30409340 c.572C>T p.A191V missense 0.00001657●●●●●●
109. 30414746 c.1224+5C>A splice site 0.00001657●●●●●●
110. 30411336 c.829G>A p.G277R missense 0.00001655●●●●●●
111. 30409367 c.599T>C p.L200P missense 0.00001655●●●●●●
112. 30409453 c.685G>A p.E229K missense 0.00001654●●●●●●
113. 30414596 c.1083-4A>G splice site 0.00001652●●●●●●
114. 30414604 c.1087G>A p.E363K missense 0.00001652●●●●●●
115. 30409430 c.662A>G p.Q221R missense 0.00001652●●●●●●
116. 30414600 c.1083C>T splice site 0.00001652●●●●●●
117. 30414629 c.1112T>C p.I371T missense 0.00001650●●●●●●
118. 30421548 c.1739A>T p.N580I missense 0.00001650●●●●●●
119. 30414521 c.1082+4A>C splice site 0.00001649●●●●●●
120. 30418805 c.1296-11C>G splice site 0.00001648●●●●●●
121. 30419595 c.1514C>T p.T505I missense 0.00001647●●●●●●
122. 30419615 c.1534G>C p.E512Q missense 0.00001647●●●●●●
123. 30419645 c.1564G>A p.V522I missense 0.00001647●●●●●●
124. 30412159 c.972+4G>T splice site 0.00001157●●●●●●
125. 30419880 c.1651A>G p.N551D missense 0.00001145●●●●●●
126. 30419887 c.1658G>A p.R553H missense 0.00001143●●●●●●
127. 30419854 c.1625A>G p.N542S missense 0.00001141●●●●●●
128. 30419940 c.1710+1G>T essential splice site 0.00001128●●●●●●
129. 30419898 c.1669C>T p.Q557X nonsense 0.00001128●●●●●●
130. 30419901 c.1672A>C p.I558L missense 0.00001123●●●●●●
131. 30419932 c.1703G>T p.R568L missense 0.00001123●●●●●●
132. 30419916 c.1687T>C p.Y563H missense 0.00001117●●●●●●
133. 30419811 c.1582C>T p.R528W missense 0.00001052●●●●●●
134. 30412108 c.925C>T p.L309F missense 0.00000932●●●●●●
135. 30412102 c.919A>G p.T307A missense 0.00000924●●●●●●
136. 30412091 c.908T>C p.M303T missense 0.00000920●●●●●●
137. 30409547 c.772+7C>G splice site 0.00000909●●●●●●
138. 30408352 c.473+3G>A splice site 0.00000874●●●●●●
139. 30409527 c.759C>G p.C253W missense 0.00000873●●●●●●
140. 30408320 c.444T>G p.H148Q missense 0.00000864●●●●●●
141. 30408153 c.277C>T p.P93S missense 0.00000863●●●●●●
142. 30408153 c.277C>A p.P93T missense 0.00000863●●●●●●
143. 30408318 c.442C>G p.H148D missense 0.00000863●●●●●●
144. 30408163 c.287C>T p.A96V missense 0.00000862●●●●●●
145. 30408306 c.430C>T p.P144S missense 0.00000861●●●●●●
146. 30408294 c.418A>T p.R140W missense 0.00000860●●●●●●
147. 30408144 c.268A>G p.S90G missense 0.00000859●●●●●●
148. 30408212 c.336G>T p.K112N missense 0.00000858●●●●●●
149. 30408274 c.398C>T p.A133V missense 0.00000858●●●●●●
150. 30408280 c.404G>A p.G135D missense 0.00000858●●●●●●
151. 30408132 c.256C>G p.P86A missense 0.00000857●●●●●●
152. 30408247 c.371G>A p.G124E missense 0.00000857●●●●●●
153. 30408249 c.373A>G p.K125E missense 0.00000857●●●●●●
154. 30408250 c.374A>T p.K125M missense 0.00000857●●●●●●
155. 30408257 c.381G>T p.R127S missense 0.00000857●●●●●●
156. 30408259 c.383T>A p.V128E missense 0.00000857●●●●●●
157. 30408249 c.373_374insTGGTCTC p.Lys125MetfsTer27 frameshift 0.00000857●●●●●●
158. 30409511 c.743C>T p.A248V missense 0.00000855●●●●●●
159. 30408120 c.244_245delAG p.Arg82GlyfsTer23 frameshift 0.00000852●●●●●●
160. 30408115 c.239G>T p.G80V missense 0.00000848●●●●●●
161. 30409235 c.474-7C>T splice site 0.00000844●●●●●●
162. 30409241 c.474-1G>C essential splice site 0.00000842●●●●●●
163. 30409247 c.479A>G p.E160G missense 0.00000840●●●●●●
164. 30408097 c.221A>G p.Q74R missense 0.00000839●●●●●●
165. 30408097 c.221A>C p.Q74P missense 0.00000839●●●●●●
166. 30407933 c.57G>C p.K19N missense 0.00000833●●●●●●
167. 30421599 c.1790G>A nonsense 0.00000833●●●●●●
168. 30407930 c.54C>T splice site 0.00000833●●●●●●
169. 30407938 c.62C>A p.P21H missense 0.00000832●●●●●●
170. 30408063 c.187G>C p.D63H missense 0.00000832●●●●●●
171. 30407952 c.76G>T p.G26C missense 0.00000831●●●●●●
172. 30407944 c.68G>A p.G23D missense 0.00000831●●●●●●
173. 30407953 c.77G>A p.G26D missense 0.00000831●●●●●●
174. 30408043 c.167C>T p.A56V missense 0.00000831●●●●●●
175. 30408043 c.167C>A p.A56D missense 0.00000831●●●●●●
176. 30408043 c.167C>G p.A56G missense 0.00000831●●●●●●
177. 30411315 c.808C>T p.R270C missense 0.00000831●●●●●●
178. 30408001 c.125A>G p.K42R missense 0.00000830●●●●●●
179. 30411316 c.809G>A p.R270H missense 0.00000830●●●●●●
180. 30407961 c.85C>A p.P29T missense 0.00000830●●●●●●
181. 30407970 c.94G>T p.A32S missense 0.00000830●●●●●●
182. 30407982 c.106C>T p.P36S missense 0.00000830●●●●●●
183. 30407986 c.110G>A p.G37D missense 0.00000830●●●●●●
184. 30407989 c.113C>A p.P38H missense 0.00000830●●●●●●
185. 30408022 c.146C>T p.T49I missense 0.00000830●●●●●●
186. 30408025 c.149T>G p.L50R missense 0.00000830●●●●●●
187. 30408037 c.161C>A p.A54D missense 0.00000830●●●●●●
188. 30411318 c.811A>C p.M271L missense 0.00000830●●●●●●
189. 30409319 c.551G>A p.S184N missense 0.00000829●●●●●●
190. 30411320 c.813G>T p.M271I missense 0.00000829●●●●●●
191. 30409304 c.536T>G p.V179G missense 0.00000829●●●●●●
192. 30411321 c.814G>A p.V272M missense 0.00000829●●●●●●
193. 30421583 c.1774A>G p.M592V missense 0.00000829●●●●●●
194. 30409353 c.585A>C p.E195D missense 0.00000828●●●●●●
195. 30409469 c.701C>G p.P234R missense 0.00000828●●●●●●
196. 30411378 c.871C>T p.L291F missense 0.00000828●●●●●●
197. 30411382 c.875G>A p.G292E missense 0.00000828●●●●●●
198. 30414742 c.1224+1G>T essential splice site 0.00000828●●●●●●
199. 30411345 c.838A>T p.S280C missense 0.00000827●●●●●●
200. 30411349 c.842G>C p.S281T missense 0.00000827●●●●●●
201. 30411336 c.829delG p.Asn278MetfsTer8 frameshift 0.00000827●●●●●●
202. 30409442 c.674C>T p.S225L missense 0.00000826●●●●●●
203. 30409426 c.658A>G p.M220V missense 0.00000826●●●●●●
204. 30409390 c.622G>A p.G208R missense 0.00000826●●●●●●
205. 30409400 c.632C>A p.T211N missense 0.00000826●●●●●●
206. 30409439 c.671C>G p.T224S missense 0.00000826●●●●●●
207. 30414410 c.975A>C p.E325D missense 0.00000826●●●●●●
208. 30414610 c.1093G>A p.G365R missense 0.00000826●●●●●●
209. 30414611 c.1094G>T p.G365V missense 0.00000826●●●●●●
210. 30421565 c.1756A>G p.S586G missense 0.00000826●●●●●●
211. 30414593 c.1083-7C>G splice site 0.00000826●●●●●●
212. 30419500 c.1425-6C>T splice site 0.00000825●●●●●●
213. 30414523 c.1082+6T>C splice site 0.00000825●●●●●●
214. 30414414 c.979G>A p.V327M missense 0.00000825●●●●●●
215. 30414614 c.1097A>G p.E366G missense 0.00000825●●●●●●
216. 30414652 c.1135A>G p.T379A missense 0.00000825●●●●●●
217. 30414715 c.1198A>G p.M400V missense 0.00000825●●●●●●
218. 30421521 c.1712A>G p.K571R missense 0.00000825●●●●●●
219. 30421530 c.1721T>C p.I574T missense 0.00000825●●●●●●
220. 30414525 c.1082+8C>A splice site 0.00000825●●●●●●
221. 30418949 c.1424+5G>A splice site 0.00000825●●●●●●
222. 30418881 c.1361T>C p.V454A missense 0.00000824●●●●●●
223. 30419603 c.1522G>A p.A508T missense 0.00000824●●●●●●
224. 30419618 c.1537G>A p.A513T missense 0.00000824●●●●●●
225. 30414480 c.1045A>T p.I349F missense 0.00000824●●●●●●
226. 30414688 c.1171T>C p.C391R missense 0.00000824●●●●●●
227. 30419538 c.1457A>G p.D486G missense 0.00000824●●●●●●
228. 30414436 c.1001T>G p.M334R missense 0.00000824●●●●●●
229. 30414453 c.1018C>T p.R340C missense 0.00000824●●●●●●
230. 30414453 c.1018C>A p.R340S missense 0.00000824●●●●●●
231. 30414457 c.1022A>G p.N341S missense 0.00000824●●●●●●
232. 30414459 c.1024C>G p.L342V missense 0.00000824●●●●●●
233. 30414472 c.1037A>G p.Y346C missense 0.00000824●●●●●●
234. 30414490 c.1055C>G p.P352R missense 0.00000824●●●●●●
235. 30414501 c.1066G>A p.V356I missense 0.00000824●●●●●●
236. 30414511 c.1076T>C p.M359T missense 0.00000824●●●●●●
237. 30414664 c.1147A>G p.T383A missense 0.00000824●●●●●●
238. 30414684 c.1167G>C p.Q389H missense 0.00000824●●●●●●
239. 30414685 c.1168A>G p.I390V missense 0.00000824●●●●●●
240. 30418626 c.1229A>G p.E410G missense 0.00000824●●●●●●
241. 30418823 c.1303C>T p.P435S missense 0.00000824●●●●●●
242. 30418853 c.1333A>G p.T445A missense 0.00000824●●●●●●
243. 30418853 c.1333A>T p.T445S missense 0.00000824●●●●●●
244. 30418923 c.1403T>C p.M468T missense 0.00000824●●●●●●
245. 30419560 c.1479C>A p.N493K missense 0.00000824●●●●●●
246. 30419561 c.1480G>C p.V494L missense 0.00000824●●●●●●
247. 30419561 c.1480G>A p.V494I missense 0.00000824●●●●●●
248. 30419565 c.1484T>G p.L495R missense 0.00000824●●●●●●
249. 30419578 c.1497G>T p.W499C missense 0.00000824●●●●●●
250. 30419586 c.1505A>G p.D502G missense 0.00000824●●●●●●
251. 30419595 c.1514C>G p.T505S missense 0.00000824●●●●●●
252. 30419622 c.1541A>G p.K514R missense 0.00000824●●●●●●
253. 30419631 c.1550T>C p.V517A missense 0.00000824●●●●●●
254. 30419639 c.1558C>G p.L520V 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.