MYLK2 missense variants in ExAC

MYLK2 gene summary
MYLK2 variants in DCM

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