TCAP protein-altering variants in ExAC


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 frequencyPopulations*
1. 37821635 c.23_24insCGAGGTGT p.Glu12ArgfsTer20 frameshift 0.00007453
2. 37821709 c.97C>T p.R33W missense 0.00006646
3. 37822246 c.388C>T p.R130C missense 0.00005866
4. 37822069 c.211A>G p.M71V missense 0.00005192
5. 37822084 c.226C>T p.R76C missense 0.00005169
6. 37822175 c.317G>A p.R106H missense 0.00004315
7. 37822318 c.460C>T p.R154C missense 0.00004192
8. 37822306 c.448G>A p.G150S missense 0.00004170
9. 37821665 c.53G>A p.R18Q missense 0.00004141
10. 37822268 c.410C>A p.T137K missense 0.00003340
11. 37822279 c.421C>G p.P141A missense 0.00003339
12. 37822310 c.452C>T p.A151V missense 0.00003337
13. 37822029 c.171C>G p.C57W missense 0.00003123
14. 37822117 c.259C>T p.R87W missense 0.00002999
15. 37822319 c.461G>A p.R154H missense 0.00002516
16. 37821655 c.43T>A p.C15S missense 0.00002484
17. 37822046 c.188G>A p.R63H missense 0.00002108
18. 37822066 c.208C>T p.R70W missense 0.00002101
19. 37822045 c.187C>T p.R63C missense 0.00002100
20. 37822067 c.209G>A p.R70Q missense 0.00002091
21. 37822081 c.223G>A p.G75S missense 0.00002075
22. 37822338 c.480G>A p.M160I missense 0.00001685
23. 37822236 c.378G>C p.Q126H missense 0.00001679
24. 37822315 c.457C>A p.R153S missense 0.00001675
25. 37822315 c.457C>T p.R153C missense 0.00001675
26. 37821715 c.103G>A p.E35K missense 0.00001664
27. 37821687 c.75G>A p.W25X nonsense 0.00001657
28. 37821662 c.50G>C p.R17P missense 0.00001656
29. 37821971 c.113G>A p.C38Y missense 0.00001134
30. 37822056 c.198G>C p.W66C missense 0.00001047
31. 37822060 c.202A>T p.M68L missense 0.00001045
32. 37822001 c.143A>G p.H48R missense 0.00001043
33. 37822028 c.170G>A p.C57Y missense 0.00001041
34. 37822070 c.212T>C p.M71T missense 0.00001039
35. 37822011 c.153C>A p.Y51X nonsense 0.00001038
36. 37822012 c.154C>G p.H52D missense 0.00001038
37. 37822009 c.151T>C p.Y51H missense 0.00001038
38. 37822010 c.152A>T p.Y51F missense 0.00001037
39. 37822085 c.227G>A p.R76H missense 0.00001036
40. 37822098 c.240G>T p.E80D missense 0.00001016
41. 37822120 c.262G>T p.V88L missense 0.00000987
42. 37822148 c.290C>T p.A97V missense 0.00000921
43. 37822153 c.295A>G p.M99V missense 0.00000909
44. 37822159 c.301G>A p.A101T missense 0.00000897
45. 37822174 c.316C>A p.R106S missense 0.00000867
46. 37822183 c.325A>G p.T109A missense 0.00000856
47. 37822189 c.331_332insT p.Gln112ProfsTer24 frameshift 0.00000851
48. 37822355 c.497G>A p.R166K missense 0.00000846
49. 37822331 c.473G>A p.R158H missense 0.00000841
50. 37822235 c.377A>G p.Q126R missense 0.00000840
51. 37822245 c.387C>G p.D129E missense 0.00000839
52. 37822318 c.460_471delCGCTCCCTGTCC p.Arg154_Ser157del inframe 0.00000838
53. 37822252 c.394G>A p.E132K missense 0.00000837
54. 37822294 c.436G>T p.V146F missense 0.00000834
55. 37821697 c.85A>T p.T29S missense 0.00000829
56. 37821655 c.43_44delTG p.Cys15Ter frameshift 0.00000828
57. 37821628 c.16C>A p.L6M missense 0.00000828
58. 37821617 c.5C>T p.A2V missense 0.00000828
59. 37821662 c.50G>A p.R17H missense 0.00000828
60. 37821644 c.32C>G p.S11W missense 0.00000828

* 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.