TRDN truncating variants in ExAC

TRDN gene summary
TRDN variants in

The table below lists the TRDN 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. 123699045 c.1187-2A>G essential splice site 0.00204273●●●●●●
2. 123539855 c.2081T>A p.L694X nonsense 0.00031360●●●●●●
3. 123600200 c.1537+1G>A essential splice site 0.00016003●●●●●●
4. 123687319 c.1282C>T p.R428X nonsense 0.00013533●●●●●●
5. 123588851 c.1783+1G>A essential splice site 0.00012248●●●●●●
6. 123539840 c.2096delG p.Gly699AlafsTer45 frameshift 0.00008969●●●●●●
7. 123653023 c.1471+1G>A essential splice site 0.00008449●●●●●●
8. 123786049 c.931+2C>A essential splice site 0.00006147●●●●●●
9. 123892247 c.53_56delACAG frameshift 0.00005802●●●●●●
10. 123577024 c.1894_1895insA p.Arg632LysfsTer31 frameshift 0.00005701●●●●●●
11. 123658776 c.1408delC p.Leu470Ter frameshift 0.00005333●●●●●●
12. 123539757 c.2179C>T p.Q727X nonsense 0.00005106●●●●●●
13. 123703293 c.1136-1G>A essential splice site 0.00004940●●●●●●
14. 123580768 c.1870+1G>T essential splice site 0.00004877●●●●●●
15. 123580772 c.1867A>T p.K623X nonsense 0.00004874●●●●●●
16. 123837353 c.485-2A>G essential splice site 0.00004810●●●●●●
17. 123576272 c.1907-2A>G essential splice site 0.00004678●●●●●●
18. 123868486 c.423delA p.E142Kfs*33 frameshift 0.00004662●●●●●●
19. 123576243 c.1934T>G p.L645X nonsense 0.00004593●●●●●●
20. 123760087 c.991+2_991+5delTAGG essential splice site 0.00003791●●●●●●
21. 123760143 c.937G>T p.E313X nonsense 0.00003725●●●●●●
22. 123600201 c.1537C>T p.Q513X nonsense 0.00003369●●●●●●
23. 123825044 c.613C>T p.Q205X nonsense 0.00003244●●●●●●
24. 123539751 c.2185C>T p.Q729X nonsense 0.00002546●●●●●●
25. 123833449 c.609delA p.Glu204AsnfsTer19 frameshift 0.00002467●●●●●●
26. 123687279 c.1321+1delG essential splice site 0.00001756●●●●●●
27. 123824996 c.661G>T p.E221X nonsense 0.00001725●●●●●●
28. 123759207 c.1051+1G>T essential splice site 0.00001430●●●●●●
29. 123687278 c.1321+2T>C essential splice site 0.00000878●●●●●●
30. 123673682 c.1369+2delT essential splice site 0.00000842●●●●●●
31. 123892243 c.57_58insTTTT p.Lys20PhefsTer2 frameshift 0.00000829●●●●●●
32. 123698874 c.1233_1234dupGA p.Lys412ArgfsTer12 frameshift 0.00000829●●●●●●

* 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.