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

* 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.