MYH6 truncating variants in ExAC


The table below lists the MYH6 truncating 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 frequencyPopulations*
1. 23858217 c.4026C>A p.C1342X nonsense 0.00007474
2. 23874590 c.346-2A>G essential splice site 0.00003298
3. 0 c.-13-1G>A essential splice site 0.00002476
4. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472
5. 23857102 c.4390G>T p.E1464X nonsense 0.00001659
6. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649
7. 23862218 c.3154C>T p.R1052X nonsense 0.00001647
8. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647
9. 23851639 c.5794A>T p.K1932X nonsense 0.00001647
10. 23872591 c.864C>G p.Y288X nonsense 0.00001647
11. 23870070 c.1258C>T p.Q420X nonsense 0.00001647
12. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647
13. 23867953 c.1875C>A p.Y625X nonsense 0.00001647
14. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324
15. 23858266 c.3979-2A>C essential splice site 0.00001129
16. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106
17. 23855833 c.4651-1G>A essential splice site 0.00000845
18. 23865632 c.2293-3_2293-2delCA essential splice site 0.00000842
19. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826
20. 23871905 c.1002+1G>A essential splice site 0.00000826
21. 23853649 c.5565+2T>A essential splice site 0.00000826
22. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826
23. 0 c.-13-1G>C essential splice site 0.00000825
24. 23866290 c.2051-1G>A essential splice site 0.00000824
25. 23869464 c.1581+1G>A essential splice site 0.00000824
26. 23865901 c.2292+2T>C essential splice site 0.00000824
27. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824
28. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824
29. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824
30. 23867997 c.1831C>T p.Q611X nonsense 0.00000824
31. 23863093 c.2710G>T p.E904X nonsense 0.00000824
32. 23858800 c.3859+2T>G essential splice site 0.00000824
33. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824
34. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824
35. 23851274 c.5797-2A>G essential splice site 0.00000824
36. 23868166 c.1662C>A p.Y554X nonsense 0.00000824
37. 23853725 c.5491G>T p.E1831X nonsense 0.00000824
38. 23854154 c.5260G>T p.E1754X nonsense 0.00000824
39. 23865902 c.2292+1G>A essential splice site 0.00000824
40. 23862874 c.2928+1G>A essential splice site 0.00000824
41. 23863342 c.2620G>T p.E874X nonsense 0.00000824
42. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824
43. 23858722 c.3860-2A>C essential splice site 0.00000824
44. 23857516 c.4207G>T p.E1403X nonsense 0.00000824
45. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824
46. 23858600 c.3978+2T>C essential splice site 0.00000824
47. 23851666 c.5767C>T p.R1923X nonsense 0.00000824
48. 23856967 c.4525G>T p.E1509X nonsense 0.00000824
49. 23854123 c.5289+2T>C essential splice site 0.00000824
50. 23862956 c.2847C>A p.C949X nonsense 0.00000824
51. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824
52. 23862143 c.3229C>T p.Q1077X nonsense 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.