MYLK2 protein-altering variants in ExAC

MYLK2 gene summary
MYLK2 variants in DCM

The table below lists the MYLK2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 30407388 c.5C>A p.A2E missense 0.00004839●●●●●●
2. 30407433 c.50C>A p.T17K missense 0.00009749●●●●●●
3. 30407433 c.50C>T p.T17I missense 0.00004875●●●●●●
4. 30407435 c.52G>C p.D18H missense 0.00004878●●●●●●
5. 30407933 c.57G>C p.K19N missense 0.00000833●●●●●●
6. 30407938 c.62C>A p.P21H missense 0.00000832●●●●●●
7. 30407944 c.68G>A p.G23D missense 0.00000831●●●●●●
8. 30407952 c.76G>T p.G26C missense 0.00000831●●●●●●
9. 30407953 c.77G>A p.G26D missense 0.00000831●●●●●●
10. 30407961 c.85C>A p.P29T missense 0.00000830●●●●●●
11. 30407970 c.94G>T p.A32S missense 0.00000830●●●●●●
12. 30407973 c.97G>C p.G33R missense 0.00001659●●●●●●
13. 30407982 c.106C>T p.P36S missense 0.00000830●●●●●●
14. 30407986 c.110G>A p.G37D missense 0.00000830●●●●●●
15. 30407989 c.113C>A p.P38H missense 0.00000830●●●●●●
16. 30408001 c.125A>G p.K42R missense 0.00000830●●●●●●
17. 30408010 c.134C>T p.P45L missense 0.00005810●●●●●●
18. 30408022 c.146C>T p.T49I missense 0.00000830●●●●●●
19. 30408025 c.149T>G p.L50R missense 0.00000830●●●●●●
20. 30408033 c.157G>A p.D53N missense 0.00005812●●●●●●
21. 30408037 c.161C>A p.A54D missense 0.00000830●●●●●●
22. 30408043 c.167C>T p.A56V missense 0.00000831●●●●●●
23. 30408043 c.167C>A p.A56D missense 0.00000831●●●●●●
24. 30408043 c.167C>G p.A56G missense 0.00000831●●●●●●
25. 30408060 c.184G>A p.G62R missense 0.00001664●●●●●●
26. 30408063 c.187G>C p.D63H missense 0.00000832●●●●●●
27. 30408063 c.187G>T p.D63Y missense 0.00005826●●●●●●
28. 30408067 c.191G>C p.G64A missense 0.00006663●●●●●●
29. 30408069 c.193A>G p.T65A missense 0.00001666●●●●●●
30. 30408097 c.221A>G p.Q74R missense 0.00000839●●●●●●
31. 30408097 c.221A>C p.Q74P missense 0.00000839●●●●●●
32. 30408099 c.223G>A p.G75S missense 0.00004197●●●●●●
33. 30408102 c.226C>T p.P76S missense 0.00001680●●●●●●
34. 30408103 c.227C>T p.P76L missense 0.00007562●●●●●●
35. 30408115 c.239G>T p.G80V missense 0.00000848●●●●●●
36. 30408119 c.243C>G p.D81E missense 0.00001704●●●●●●
37. 30408120 c.244_245delAG p.Arg82GlyfsTer23 frameshift 0.00000852●●●●●●
38. 30408126 c.250G>A p.G84R missense 0.00001711●●●●●●
39. 30408132 c.256C>G p.P86A missense 0.00000857●●●●●●
40. 30408135 c.259G>A p.A87T missense 0.00002574●●●●●●
41. 30408144 c.268A>G p.S90G missense 0.00000859●●●●●●
42. 30408153 c.277C>T p.P93S missense 0.00000863●●●●●●
43. 30408153 c.277C>A p.P93T missense 0.00000863●●●●●●
44. 30408162 c.286G>A p.A96T missense 0.00001725●●●●●●
45. 30408163 c.287C>T p.A96V missense 0.00000862●●●●●●
46. 30408169 c.293C>T p.P98L missense 0.00005169●●●●●●
47. 30408181 c.305C>T p.A102V missense 0.00003444●●●●●●
48. 30408198 c.322G>A p.V108I missense 0.00003434●●●●●●
49. 30408212 c.336G>T p.K112N missense 0.00000858●●●●●●
50. 30408213 c.337G>T p.A113S missense 0.00001716●●●●●●
51. 30408240 c.364G>C p.D122H missense 0.00001713●●●●●●
52. 30408243 c.367C>T p.P123S missense 0.00005140●●●●●●
53. 30408247 c.371G>A p.G124E missense 0.00000857●●●●●●
54. 30408249 c.373A>G p.K125E missense 0.00000857●●●●●●
55. 30408249 c.373_374insTGGTCTC p.Lys125MetfsTer27 frameshift 0.00000857●●●●●●
56. 30408250 c.374A>T p.K125M missense 0.00000857●●●●●●
57. 30408257 c.381G>T p.R127S missense 0.00000857●●●●●●
58. 30408259 c.383T>A p.V128E missense 0.00000857●●●●●●
59. 30408271 c.395C>T p.A132V missense 0.00001716●●●●●●
60. 30408274 c.398C>T p.A133V missense 0.00000858●●●●●●
61. 30408279 c.403G>C p.G135R missense 0.00001717●●●●●●
62. 30408280 c.404G>A p.G135D missense 0.00000858●●●●●●
63. 30408294 c.418A>T p.R140W missense 0.00000860●●●●●●
64. 30408298 c.422G>A p.R141K missense 0.00004302●●●●●●
65. 30408301 c.425G>T p.G142V missense 0.00004305●●●●●●
66. 30408306 c.430C>T p.P144S missense 0.00000861●●●●●●
67. 30408318 c.442C>G p.H148D missense 0.00000863●●●●●●
68. 30408320 c.444T>G p.H148Q missense 0.00000864●●●●●●
69. 30408339 c.463A>T p.I155F missense 0.00004342●●●●●●
70. 30408339 c.463A>G p.I155V missense 0.00001737●●●●●●
71. 30409241 c.474-1G>C essential splice site 0.00000842●●●●●●
72. 30409247 c.479A>G p.E160G missense 0.00000840●●●●●●
73. 30409279 c.511G>A p.A171T missense 0.00002494●●●●●●
74. 30409280 c.512C>A p.A171E missense 0.00001662●●●●●●
75. 30409292 c.524C>A p.T175N missense 0.00004979●●●●●●
76. 30409292 c.524C>T p.T175I missense 0.00002490●●●●●●
77. 30409304 c.536T>G p.V179G missense 0.00000829●●●●●●
78. 30409319 c.551G>A p.S184N missense 0.00000829●●●●●●
79. 30409325 c.557C>T p.T186M missense 0.00004974●●●●●●
80. 30409330 c.562C>T p.P188S missense 0.00002487●●●●●●
81. 30409340 c.572C>T p.A191V missense 0.00001657●●●●●●
82. 30409353 c.585A>C p.E195D missense 0.00000828●●●●●●
83. 30409363 c.595A>G p.I199V missense 0.00003310●●●●●●
84. 30409367 c.599T>C p.L200P missense 0.00001655●●●●●●
85. 30409370 c.602C>T p.A201V missense 0.00002482●●●●●●
86. 30409374 c.606G>C p.E202D missense 0.00002482●●●●●●
87. 30409390 c.622G>A p.G208R missense 0.00000826●●●●●●
88. 30409400 c.632C>A p.T211N missense 0.00000826●●●●●●
89. 30409426 c.658A>G p.M220V missense 0.00000826●●●●●●
90. 30409430 c.662A>G p.Q221R missense 0.00001652●●●●●●
91. 30409439 c.671C>G p.T224S missense 0.00000826●●●●●●
92. 30409442 c.674C>T p.S225L missense 0.00000826●●●●●●
93. 30409445 c.677G>C p.R226T missense 0.00002480●●●●●●
94. 30409453 c.685G>A p.E229K missense 0.00001654●●●●●●
95. 30409469 c.701C>G p.P234R missense 0.00000828●●●●●●
96. 30409472 c.704C>T p.S235L missense 0.00001658●●●●●●
97. 30409483 c.715G>A p.E239K missense 0.00001664●●●●●●
98. 30409487 c.719T>C p.V240A missense 0.00001667●●●●●●
99. 30409511 c.743C>T p.A248V missense 0.00000855●●●●●●
100. 30409527 c.759C>G p.C253W missense 0.00000873●●●●●●
101. 30411289 c.782C>T p.P261L missense 0.00002507●●●●●●
102. 30411315 c.808C>T p.R270C missense 0.00000831●●●●●●
103. 30411316 c.809G>A p.R270H missense 0.00000830●●●●●●
104. 30411318 c.811A>C p.M271L missense 0.00000830●●●●●●
105. 30411320 c.813G>T p.M271I missense 0.00000829●●●●●●
106. 30411321 c.814G>A p.V272M missense 0.00000829●●●●●●
107. 30411336 c.829G>A p.G277R missense 0.00001655●●●●●●
108. 30411336 c.829delG p.Asn278MetfsTer8 frameshift 0.00000827●●●●●●
109. 30411345 c.838A>T p.S280C missense 0.00000827●●●●●●
110. 30411349 c.842G>C p.S281T missense 0.00000827●●●●●●
111. 30411378 c.871C>T p.L291F missense 0.00000828●●●●●●
112. 30411382 c.875G>A p.G292E missense 0.00000828●●●●●●
113. 30412068 c.885G>C p.K295N missense 0.00003803●●●●●●
114. 30412091 c.908T>C p.M303T missense 0.00000920●●●●●●
115. 30412102 c.919A>G p.T307A missense 0.00000924●●●●●●
116. 30412106 c.923G>A p.G308D missense 0.00004643●●●●●●
117. 30412108 c.925C>T p.L309F missense 0.00000932●●●●●●
118. 30412126 c.943G>A p.V315I missense 0.00001950●●●●●●
119. 30412134 c.951G>C p.K317N missense 0.00003002●●●●●●
120. 30414410 c.975A>C p.E325D missense 0.00000826●●●●●●
121. 30414414 c.979G>A p.V327M missense 0.00000825●●●●●●
122. 30414436 c.1001T>G p.M334R missense 0.00000824●●●●●●
123. 30414453 c.1018C>T p.R340C missense 0.00000824●●●●●●
124. 30414453 c.1018C>A p.R340S missense 0.00000824●●●●●●
125. 30414454 c.1019G>A p.R340H missense 0.00004945●●●●●●
126. 30414457 c.1022A>G p.N341S missense 0.00000824●●●●●●
127. 30414459 c.1024C>G p.L342V missense 0.00000824●●●●●●
128. 30414472 c.1037A>G p.Y346C missense 0.00000824●●●●●●
129. 30414480 c.1045A>T p.I349F missense 0.00000824●●●●●●
130. 30414490 c.1055C>T p.P352L missense 0.00003297●●●●●●
131. 30414490 c.1055C>G p.P352R missense 0.00000824●●●●●●
132. 30414501 c.1066G>A p.V356I missense 0.00000824●●●●●●
133. 30414511 c.1076T>C p.M359T missense 0.00000824●●●●●●
134. 30414604 c.1087G>A p.E363K missense 0.00001652●●●●●●
135. 30414610 c.1093G>A p.G365R missense 0.00000826●●●●●●
136. 30414611 c.1094G>T p.G365V missense 0.00000826●●●●●●
137. 30414614 c.1097A>G p.E366G missense 0.00000825●●●●●●
138. 30414622 c.1105G>A p.E369K missense 0.00007428●●●●●●
139. 30414629 c.1112T>C p.I371T missense 0.00001650●●●●●●
140. 30414640 c.1123G>A p.D375N missense 0.00005773●●●●●●
141. 30414652 c.1135A>G p.T379A missense 0.00000825●●●●●●
142. 30414664 c.1147A>G p.T383A missense 0.00000824●●●●●●
143. 30414684 c.1167G>C p.Q389H missense 0.00000824●●●●●●
144. 30414685 c.1168A>G p.I390V missense 0.00000824●●●●●●
145. 30414688 c.1171T>C p.C391R missense 0.00000824●●●●●●
146. 30414694 c.1177G>A p.G393R missense 0.00004123●●●●●●
147. 30414715 c.1198A>G p.M400V missense 0.00000825●●●●●●
148. 30414742 c.1224+1G>T essential splice site 0.00000828●●●●●●
149. 30418626 c.1229A>G p.E410G missense 0.00000824●●●●●●
150. 30418650 c.1253C>T p.T418I missense 0.00009061●●●●●●
151. 30418652 c.1255G>A p.G419R missense 0.00006590●●●●●●
152. 30418689 c.1292G>A p.R431Q missense 0.00002472●●●●●●
153. 30418823 c.1303C>T p.P435S missense 0.00000824●●●●●●
154. 30418829 c.1309G>A p.E437K missense 0.00004120●●●●●●
155. 30418853 c.1333A>G p.T445A missense 0.00000824●●●●●●
156. 30418853 c.1333A>T p.T445S missense 0.00000824●●●●●●
157. 30418881 c.1361T>C p.V454A missense 0.00000824●●●●●●
158. 30418923 c.1403T>C p.M468T missense 0.00000824●●●●●●
159. 30419525 c.1444T>G p.F482V missense 0.00003296●●●●●●
160. 30419532 c.1451G>A p.G484E missense 0.00003295●●●●●●
161. 30419538 c.1457A>G p.D486G missense 0.00000824●●●●●●
162. 30419560 c.1479C>A p.N493K missense 0.00000824●●●●●●
163. 30419561 c.1480G>C p.V494L missense 0.00000824●●●●●●
164. 30419561 c.1480G>A p.V494I missense 0.00000824●●●●●●
165. 30419565 c.1484T>G p.L495R missense 0.00000824●●●●●●
166. 30419575 c.1494C>A p.N498K missense 0.00002471●●●●●●
167. 30419578 c.1497G>T p.W499C missense 0.00000824●●●●●●
168. 30419586 c.1505A>G p.D502G missense 0.00000824●●●●●●
169. 30419591 c.1510G>C p.E504Q missense 0.00002471●●●●●●
170. 30419595 c.1514C>T p.T505I missense 0.00001647●●●●●●
171. 30419595 c.1514C>G p.T505S missense 0.00000824●●●●●●
172. 30419603 c.1522G>A p.A508T missense 0.00000824●●●●●●
173. 30419615 c.1534G>C p.E512Q missense 0.00001647●●●●●●
174. 30419615 c.1534G>A p.E512K missense 0.00003295●●●●●●
175. 30419618 c.1537G>A p.A513T missense 0.00000824●●●●●●
176. 30419622 c.1541A>G p.K514R missense 0.00000824●●●●●●
177. 30419631 c.1550T>C p.V517A missense 0.00000824●●●●●●
178. 30419639 c.1558C>G p.L520V missense 0.00000824●●●●●●
179. 30419645 c.1564G>A p.V522I missense 0.00001647●●●●●●
180. 30419811 c.1582C>T p.R528W missense 0.00001052●●●●●●
181. 30419820 c.1591G>A p.A531T missense 0.00002147●●●●●●
182. 30419827 c.1598A>G p.Q533R missense 0.00003260●●●●●●
183. 30419835 c.1606G>A p.A536T missense 0.00002237●●●●●●
184. 30419851 c.1622A>G p.N541S missense 0.00002277●●●●●●
185. 30419854 c.1625A>G p.N542S missense 0.00001141●●●●●●
186. 30419855 c.1626C>A p.N542K missense 0.00006852●●●●●●
187. 30419874 c.1645C>T p.R549C missense 0.00003457●●●●●●
188. 30419877 c.1648T>G p.C550G missense 0.00003441●●●●●●
189. 30419878 c.1649G>A p.C550Y missense 0.00004592●●●●●●
190. 30419880 c.1651A>G p.N551D missense 0.00001145●●●●●●
191. 30419884 c.1655G>A p.R552Q missense 0.00008019●●●●●●
192. 30419886 c.1657C>T p.R553C missense 0.00002288●●●●●●
193. 30419887 c.1658G>A p.R553H missense 0.00001143●●●●●●
194. 30419898 c.1669C>T p.Q557X nonsense 0.00001128●●●●●●
195. 30419901 c.1672A>C p.I558L missense 0.00001123●●●●●●
196. 30419916 c.1687T>C p.Y563H missense 0.00001117●●●●●●
197. 30419929 c.1700G>A p.R567K missense 0.00002243●●●●●●
198. 30419932 c.1703G>A p.R568H missense 0.00004491●●●●●●
199. 30419932 c.1703G>T p.R568L missense 0.00001123●●●●●●
200. 30419940 c.1710+1G>T essential splice site 0.00001128●●●●●●
201. 30421521 c.1712A>G p.K571R missense 0.00000825●●●●●●
202. 30421530 c.1721T>C p.I574T missense 0.00000825●●●●●●
203. 30421548 c.1739A>T p.N580I missense 0.00001650●●●●●●
204. 30421550 c.1741C>T p.R581C missense 0.00002475●●●●●●
205. 30421556 c.1747_1749delAAG p.K583del1 inframe 0.00002476●●●●●●
206. 30421565 c.1756A>G p.S586G missense 0.00000826●●●●●●
207. 30421575 c.1766G>A p.G589E missense 0.00006624●●●●●●
208. 30421577 c.1768G>T p.A590S missense 0.00002484●●●●●●
209. 30421583 c.1774A>G p.M592V missense 0.00000829●●●●●●
210. 30421595 c.1786G>T p.V596F missense 0.00002495●●●●●●
211. 30421599 c.1790G>A nonsense 0.00000833●●●●●●

* 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.