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. 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. 112537568 c.297+1G>T essential splice site 0.00011545●●●●●●
2. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916●●●●●●
3. 112508805 c.794-2A>C essential splice site 0.00003578●●●●●●
4. 112451077 c.4112+1G>C essential splice site 0.00002960●●●●●●
5. 112435865 c.5185+1G>A essential splice site 0.00002478●●●●●●
6. 112513054 c.504-2A>G essential splice site 0.00001832●●●●●●
7. 112452217 c.3900C>A p.Y1300X nonsense 0.00001651●●●●●●
8. 112466034 c.2434C>T p.R812X nonsense 0.00001649●●●●●●
9. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648●●●●●●
10. 112575345 c.8dupT p.Leu3PhefsTer33 frameshift 0.00000921●●●●●●
11. 112453954 c.3813+1G>T essential splice site 0.00000839●●●●●●
12. 112510408 c.719-1G>A essential splice site 0.00000834●●●●●●
13. 112450122 c.4266+2T>G essential splice site 0.00000828●●●●●●
14. 112450131 c.4259delA p.N1420Ifs*18 frameshift 0.00000828●●●●●●
15. 112441518 c.4612C>T p.Q1538X nonsense 0.00000826●●●●●●
16. 112440516 c.4645-2A>C essential splice site 0.00000826●●●●●●
17. 112441580 c.4550T>A p.L1517X nonsense 0.00000826●●●●●●
18. 112528342 c.302_303delGC p.Cys101SerfsTer10 frameshift 0.00000825●●●●●●
19. 112466073 c.2395C>T p.R799X nonsense 0.00000825●●●●●●
20. 112480034 c.1696C>T p.Q566X nonsense 0.00000825●●●●●●
21. 112469515 c.2176C>T p.Q726X nonsense 0.00000825●●●●●●
22. 112528305 c.339T>A p.C113X nonsense 0.00000825●●●●●●
23. 112452303 c.3814_3817delTCAG p.Ser1272ThrfsTer16 frameshift 0.00000825●●●●●●
24. 112430716 c.5375dupA p.Asp1792GlufsTer9 frameshift 0.00000825●●●●●●
25. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824●●●●●●
26. 112469448 c.2243dupT p.Met748IlefsTer16 frameshift 0.00000824●●●●●●
27. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824●●●●●●
28. 112443321 c.4350C>A p.C1450X nonsense 0.00000824●●●●●●
29. 112454554 c.3672_3675delACTT p.Leu1225TyrfsTer63 frameshift 0.00000824●●●●●●
30. 112493907 c.1436C>A p.S479X nonsense 0.00000824●●●●●●
31. 112437068 c.5089C>T p.Q1697X nonsense 0.00000824●●●●●●
32. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824●●●●●●
33. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824●●●●●●
34. 112460321 c.3261+1G>T essential splice site 0.00000824●●●●●●
35. 112522814 c.498T>A p.C166X nonsense 0.00000824●●●●●●
36. 112476778 c.1927C>T p.R643X nonsense 0.00000824●●●●●●
37. 112522807 c.503+2T>C essential splice site 0.00000824●●●●●●
38. 112460366 c.3217C>T p.R1073X nonsense 0.00000824●●●●●●
39. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824●●●●●●
40. 112460955 c.3088C>T p.R1030X nonsense 0.00000824●●●●●●
41. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 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.