MYOZ2 protein-altering variants in ExAC

MYOZ2 gene summary
MYOZ2 variants in HCM, DCM

The table below lists the MYOZ2 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. 120057681 c.1A>C p.Met1? missense 0.00000854●●●●●●
2. 120057682 c.2T>C p.Met1? missense 0.00000854●●●●●●
3. 120057691 c.11A>T p.H4L missense 0.00001697●●●●●●
4. 120057697 c.17C>G p.T6S missense 0.00001693●●●●●●
5. 120057699 c.19A>G p.M7V missense 0.00000845●●●●●●
6. 120057719 c.39G>T p.Q13H missense 0.00000845●●●●●●
7. 120057733 c.53T>C p.I18T missense 0.00000849●●●●●●
8. 120057733 c.53T>G p.I18S missense 0.00000849●●●●●●
9. 120072041 c.91G>C p.D31H missense 0.00000825●●●●●●
10. 120072056 c.106G>C p.V36L missense 0.00000824●●●●●●
11. 120072083 c.133G>A p.E45K missense 0.00000824●●●●●●
12. 120072096 c.146A>G p.H49R missense 0.00004120●●●●●●
13. 120072107 c.157C>T p.R53C missense 0.00000824●●●●●●
14. 120072107 c.157C>G p.R53G missense 0.00000824●●●●●●
15. 120072108 c.158G>A p.R53H missense 0.00001648●●●●●●
16. 120072131 c.181C>T p.R61C missense 0.00001648●●●●●●
17. 120072131 c.181C>G p.R61G missense 0.00000824●●●●●●
18. 120072132 c.182G>A p.R61H missense 0.00001648●●●●●●
19. 120072134 c.184C>A p.Q62K missense 0.00000824●●●●●●
20. 120072148 c.198C>A p.D66E missense 0.00000824●●●●●●
21. 120072171 c.221A>G p.Q74R missense 0.00001649●●●●●●
22. 120072172 c.222G>T p.Q74H missense 0.00001649●●●●●●
23. 120072177 c.227A>G p.Q76R missense 0.00000825●●●●●●
24. 120072195 c.245A>G p.N82S missense 0.00000825●●●●●●
25. 120072197 c.246+1G>A essential splice site 0.00000825●●●●●●
26. 120079185 c.255T>G p.I85M missense 0.00001648●●●●●●
27. 120079186 c.256G>A p.A86T missense 0.00000824●●●●●●
28. 120079193 c.263A>G p.Q88R missense 0.00000824●●●●●●
29. 120079201 c.271A>G p.K91E missense 0.00000824●●●●●●
30. 120079205 c.275T>C p.V92A missense 0.00000824●●●●●●
31. 120079207 c.277G>A p.D93N missense 0.00000824●●●●●●
32. 120079222 c.292G>C p.E98Q missense 0.00000824●●●●●●
33. 120079232 c.302C>T p.S101L missense 0.00004944●●●●●●
34. 120079232 c.302C>A p.S101X nonsense 0.00001648●●●●●●
35. 120079240 c.310G>A p.A104T missense 0.00000824●●●●●●
36. 120079241 c.311C>T p.A104V missense 0.00009063●●●●●●
37. 120079243 c.313C>T p.P105S missense 0.00006592●●●●●●
38. 120079273 c.343C>T p.R115X nonsense 0.00004944●●●●●●
39. 120079274 c.344G>A p.R115Q missense 0.00000824●●●●●●
40. 120079293 c.363C>A p.D121E missense 0.00000824●●●●●●
41. 120085375 c.386G>A p.G129E missense 0.00000826●●●●●●
42. 120085381 c.392T>A p.L131Q missense 0.00000825●●●●●●
43. 120085391 c.402T>G p.I134M missense 0.00000825●●●●●●
44. 120085392 c.403C>T p.P135S missense 0.00000825●●●●●●
45. 120085392 c.403C>A p.P135T missense 0.00001650●●●●●●
46. 120085408 c.419A>G p.N140S missense 0.00000825●●●●●●
47. 120085411 c.422C>A p.T141N missense 0.00000825●●●●●●
48. 120085411 c.422C>T p.T141I missense 0.00001649●●●●●●
49. 120085417 c.428C>T p.A143V missense 0.00000825●●●●●●
50. 120085428 c.439T>C p.Y147H missense 0.00000825●●●●●●
51. 120085436 c.447A>T p.Q149H missense 0.00001649●●●●●●
52. 120085453 c.464C>T p.A155V missense 0.00000824●●●●●●
53. 120085468 c.479C>T p.P160L missense 0.00008245●●●●●●
54. 120085479 c.490G>A p.E164K missense 0.00000825●●●●●●
55. 120085484 c.495delT p.Leu166TyrfsTer49 frameshift 0.00000825●●●●●●
56. 120085488 c.499_500insA p.Tyr167Ter frameshift 0.00000825●●●●●●
57. 120085498 c.509T>A p.L170H missense 0.00000826●●●●●●
58. 120085512 c.523G>A p.G175R missense 0.00004959●●●●●●
59. 120085516 c.527A>C p.K176T missense 0.00000827●●●●●●
60. 120085533 c.544T>C p.Y182H missense 0.00001659●●●●●●
61. 120085550 c.560+1G>T essential splice site 0.00000833●●●●●●
62. 120107126 c.566C>T p.A189V missense 0.00000832●●●●●●
63. 120107143 c.583T>A p.F195I missense 0.00004141●●●●●●
64. 120107143 c.583T>C p.F195L missense 0.00000828●●●●●●
65. 120107155 c.595T>A p.S199T missense 0.00000826●●●●●●
66. 120107189 c.629A>G p.E210G missense 0.00000824●●●●●●
67. 120107209 c.649C>A p.P217T missense 0.00001648●●●●●●
68. 120107234 c.674C>T p.P225L missense 0.00004943●●●●●●
69. 120107249 c.689G>A p.R230Q missense 0.00003296●●●●●●
70. 120107264 c.704C>A p.T235N missense 0.00000824●●●●●●
71. 120107266 c.706C>T p.P236S missense 0.00003295●●●●●●
72. 120107270 c.710A>G p.K237R missense 0.00000824●●●●●●
73. 120107296 c.736A>G p.I246V missense 0.00000825●●●●●●
74. 120107305 c.745A>G p.T249A missense 0.00000825●●●●●●
75. 120107308 c.748A>C p.T250P missense 0.00002475●●●●●●
76. 120107309 c.749C>T p.T250I missense 0.00000825●●●●●●
77. 120107311 c.751G>A p.E251K missense 0.00000826●●●●●●
78. 120107313 c.753A>C p.E251D missense 0.00000826●●●●●●
79. 120107333 c.773T>A p.V258E missense 0.00000828●●●●●●

* 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.