DSP truncating variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP 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. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330●●●●●●
2. 7583805 c.6310delA frameshift 0.00003306●●●●●●
3. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300●●●●●●
4. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520●●●●●●
5. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488●●●●●●
6. 7584495 c.7000C>T p.R2334X nonsense 0.00001648●●●●●●
7. 7580228 c.3805C>T p.R1269X nonsense 0.00000832●●●●●●
8. 7580229 c.3806delG p.Arg1269GlnfsTer16 frameshift 0.00000832●●●●●●
9. 7580155 c.3732_3733insGAAAATC p.Asp1248LysfsTer7 frameshift 0.00000832●●●●●●
10. 7580288 c.3865C>T p.Q1289X nonsense 0.00000830●●●●●●
11. 7580285 c.3862A>T p.K1288X nonsense 0.00000830●●●●●●
12. 7585967 c.8472_8473insCTCCGGC p.Ser2825LeufsTer29 frameshift 0.00000828●●●●●●
13. 7580621 c.4198C>T p.R1400X nonsense 0.00000827●●●●●●
14. 7580795 c.4372C>T p.R1458X nonsense 0.00000827●●●●●●
15. 7580603 c.4180C>T p.Q1394X nonsense 0.00000826●●●●●●
16. 7585783 c.8288_8289insGCTT p.Gln2765AlafsTer23 frameshift 0.00000825●●●●●●
17. 7583973 c.6478C>T p.R2160X nonsense 0.00000825●●●●●●
18. 7580737 c.4314_4315delTG p.Glu1439GlyfsTer11 frameshift 0.00000825●●●●●●
19. 7574314 c.2131-5_2131-2delGACA essential splice site 0.00000825●●●●●●
20. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824●●●●●●
21. 7562884 c.598-1G>C essential splice site 0.00000824●●●●●●
22. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824●●●●●●
23. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824●●●●●●
24. 7563014 c.726+1G>A essential splice site 0.00000824●●●●●●
25. 7568676 c.1273C>T p.R425X nonsense 0.00000824●●●●●●
26. 7575030 c.2436+2T>C essential splice site 0.00000824●●●●●●
27. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824●●●●●●
28. 7562883 c.598-2A>G essential splice site 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.