DSP inframe variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP inframe 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. 7575640 c.2549_2550insTCT p.D850delinsDL inframe 0.00003295●●●●●●
2. 7580280 c.3857_3859delAGA p.Lys1288del inframe 0.00000831●●●●●●
3. 7580492 c.4069_4071delGAG p.Glu1357del inframe 0.00001658●●●●●●
4. 7580647 c.4224_4226delAAT p.Ile1409del inframe 0.00000826●●●●●●
5. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311●●●●●●
6. 7583167 c.5672_5674delAGA p.E1891_K1892delinsE inframe 0.00000825●●●●●●
7. 7583316 c.5821_5826delAAACTC p.Lys1941_Leu1942del inframe 0.00000828●●●●●●
8. 7584030 c.6535_6537delAAG p.K2179del1 inframe 0.00001648●●●●●●
9. 7584840 c.7345_7347delAAG p.Lys2449del inframe 0.00000827●●●●●●
10. 7585605 c.8110_8112delAAG p.Lys2706del inframe 0.00051142●●●●●●
11. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141●●●●●●
12. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849●●●●●●
13. 7585989 c.8494_8505delGGATCTCGCTCC p.Gly2832_Ser2835del inframe 0.00024222●●●●●●
14. 7585993 c.8498_8499insCCCGCTCCGGA p.Ser2835_Gly2836insGlySerArgSer inframe 0.00000835●●●●●●
15. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011●●●●●●
16. 7586022 c.8527_8538delAGTGGGTCCCGG p.Ser2843_Arg2846del inframe 0.00041825●●●●●●

* 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.