LAMA4 truncating variants in ExAC

LAMA4 gene summary
LAMA4 variants in DCM

The table below lists the LAMA4 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 frequency▼Populations*
1. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916●●●●●●
2. 112508805 c.794-2A>C essential splice site 0.00003578●●●●●●
3. 112451077 c.4112+1G>C essential splice site 0.00002960●●●●●●
4. 112435865 c.5185+1G>A essential splice site 0.00002478●●●●●●
5. 112513054 c.504-2A>G essential splice site 0.00001832●●●●●●
6. 112452217 c.3900C>A p.Y1300X nonsense 0.00001651●●●●●●
7. 112466034 c.2434C>T p.R812X nonsense 0.00001649●●●●●●
8. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648●●●●●●
9. 112575345 c.8dupT p.Leu3PhefsTer33 frameshift 0.00000921●●●●●●
10. 112453954 c.3813+1G>T essential splice site 0.00000839●●●●●●
11. 112510408 c.719-1G>A essential splice site 0.00000834●●●●●●
12. 112450122 c.4266+2T>G essential splice site 0.00000828●●●●●●
13. 112450131 c.4259delA p.N1420Ifs*18 frameshift 0.00000828●●●●●●
14. 112441580 c.4550T>A p.L1517X nonsense 0.00000826●●●●●●
15. 112441518 c.4612C>T p.Q1538X nonsense 0.00000826●●●●●●
16. 112440516 c.4645-2A>C essential splice site 0.00000826●●●●●●
17. 112430716 c.5375dupA p.Asp1792GlufsTer9 frameshift 0.00000825●●●●●●
18. 112480034 c.1696C>T p.Q566X nonsense 0.00000825●●●●●●
19. 112528342 c.302_303delGC p.Cys101SerfsTer10 frameshift 0.00000825●●●●●●
20. 112466073 c.2395C>T p.R799X nonsense 0.00000825●●●●●●
21. 112469515 c.2176C>T p.Q726X nonsense 0.00000825●●●●●●
22. 112452303 c.3814_3817delTCAG p.Ser1272ThrfsTer16 frameshift 0.00000825●●●●●●
23. 112528305 c.339T>A p.C113X nonsense 0.00000825●●●●●●
24. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 0.00000824●●●●●●
25. 112522807 c.503+2T>C essential splice site 0.00000824●●●●●●
26. 112460366 c.3217C>T p.R1073X nonsense 0.00000824●●●●●●
27. 112469448 c.2243dupT p.Met748IlefsTer16 frameshift 0.00000824●●●●●●
28. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824●●●●●●
29. 112443321 c.4350C>A p.C1450X nonsense 0.00000824●●●●●●
30. 112437068 c.5089C>T p.Q1697X nonsense 0.00000824●●●●●●
31. 112454554 c.3672_3675delACTT p.Leu1225TyrfsTer63 frameshift 0.00000824●●●●●●
32. 112493907 c.1436C>A p.S479X nonsense 0.00000824●●●●●●
33. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824●●●●●●
34. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824●●●●●●
35. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824●●●●●●
36. 112460321 c.3261+1G>T essential splice site 0.00000824●●●●●●
37. 112522814 c.498T>A p.C166X nonsense 0.00000824●●●●●●
38. 112476778 c.1927C>T p.R643X nonsense 0.00000824●●●●●●
39. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824●●●●●●
40. 112460955 c.3088C>T p.R1030X 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.