TCAP protein-altering variants in ExAC

TCAP gene summary
TCAP variants in DCM

The table below lists the TCAP protein-altering 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. 37821617 c.5C>T p.A2V missense 0.00000828●●●●●●
2. 37821628 c.16C>A p.L6M missense 0.00000828●●●●●●
3. 37821635 c.23_24insCGAGGTGT p.Glu12ArgfsTer20 frameshift 0.00007453●●●●●●
4. 37821644 c.32C>G p.S11W missense 0.00000828●●●●●●
5. 37821655 c.43T>A p.C15S missense 0.00002484●●●●●●
6. 37821655 c.43_44delTG p.Cys15Ter frameshift 0.00000828●●●●●●
7. 37821662 c.50G>C p.R17P missense 0.00001656●●●●●●
8. 37821662 c.50G>A p.R17H missense 0.00000828●●●●●●
9. 37821665 c.53G>A p.R18Q missense 0.00004141●●●●●●
10. 37821687 c.75G>A p.W25X nonsense 0.00001657●●●●●●
11. 37821697 c.85A>T p.T29S missense 0.00000829●●●●●●
12. 37821709 c.97C>T p.R33W missense 0.00006646●●●●●●
13. 37821715 c.103G>A p.E35K missense 0.00001664●●●●●●
14. 37821971 c.113G>A p.C38Y missense 0.00001134●●●●●●
15. 37822001 c.143A>G p.H48R missense 0.00001043●●●●●●
16. 37822009 c.151T>C p.Y51H missense 0.00001038●●●●●●
17. 37822010 c.152A>T p.Y51F missense 0.00001037●●●●●●
18. 37822011 c.153C>A p.Y51X nonsense 0.00001038●●●●●●
19. 37822012 c.154C>G p.H52D missense 0.00001038●●●●●●
20. 37822028 c.170G>A p.C57Y missense 0.00001041●●●●●●
21. 37822029 c.171C>G p.C57W missense 0.00003123●●●●●●
22. 37822045 c.187C>T p.R63C missense 0.00002100●●●●●●
23. 37822046 c.188G>A p.R63H missense 0.00002108●●●●●●
24. 37822056 c.198G>C p.W66C missense 0.00001047●●●●●●
25. 37822060 c.202A>T p.M68L missense 0.00001045●●●●●●
26. 37822066 c.208C>T p.R70W missense 0.00002101●●●●●●
27. 37822067 c.209G>A p.R70Q missense 0.00002091●●●●●●
28. 37822069 c.211A>G p.M71V missense 0.00005192●●●●●●
29. 37822070 c.212T>C p.M71T missense 0.00001039●●●●●●
30. 37822081 c.223G>A p.G75S missense 0.00002075●●●●●●
31. 37822084 c.226C>T p.R76C missense 0.00005169●●●●●●
32. 37822085 c.227G>A p.R76H missense 0.00001036●●●●●●
33. 37822098 c.240G>T p.E80D missense 0.00001016●●●●●●
34. 37822117 c.259C>T p.R87W missense 0.00002999●●●●●●
35. 37822120 c.262G>T p.V88L missense 0.00000987●●●●●●
36. 37822148 c.290C>T p.A97V missense 0.00000921●●●●●●
37. 37822153 c.295A>G p.M99V missense 0.00000909●●●●●●
38. 37822159 c.301G>A p.A101T missense 0.00000897●●●●●●
39. 37822174 c.316C>A p.R106S missense 0.00000867●●●●●●
40. 37822175 c.317G>A p.R106H missense 0.00004315●●●●●●
41. 37822183 c.325A>G p.T109A missense 0.00000856●●●●●●
42. 37822189 c.331_332insT p.Gln112ProfsTer24 frameshift 0.00000851●●●●●●
43. 37822235 c.377A>G p.Q126R missense 0.00000840●●●●●●
44. 37822236 c.378G>C p.Q126H missense 0.00001679●●●●●●
45. 37822245 c.387C>G p.D129E missense 0.00000839●●●●●●
46. 37822246 c.388C>T p.R130C missense 0.00005866●●●●●●
47. 37822252 c.394G>A p.E132K missense 0.00000837●●●●●●
48. 37822268 c.410C>A p.T137K missense 0.00003340●●●●●●
49. 37822279 c.421C>G p.P141A missense 0.00003339●●●●●●
50. 37822294 c.436G>T p.V146F missense 0.00000834●●●●●●
51. 37822306 c.448G>A p.G150S missense 0.00004170●●●●●●
52. 37822310 c.452C>T p.A151V missense 0.00003337●●●●●●
53. 37822315 c.457C>T p.R153C missense 0.00001675●●●●●●
54. 37822315 c.457C>A p.R153S missense 0.00001675●●●●●●
55. 37822318 c.460C>T p.R154C missense 0.00004192●●●●●●
56. 37822318 c.460_471delCGCTCCCTGTCC p.Arg154_Ser157del inframe 0.00000838●●●●●●
57. 37822319 c.461G>A p.R154H missense 0.00002516●●●●●●
58. 37822331 c.473G>A p.R158H missense 0.00000841●●●●●●
59. 37822338 c.480G>A p.M160I missense 0.00001685●●●●●●
60. 37822355 c.497G>A p.R166K missense 0.00000846●●●●●●

* 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.