TCAP variants in ExAC

TCAP gene summary
TCAP variants in DCM

The table below lists the TCAP 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. 37822174 c.316C>T p.R106C missense 0.01958338●●●●●●
2. 37822049 c.191C>T p.S64L missense 0.00111384●●●●●●
3. 37821645 c.33_35delGGA p.Glu12del inframe 0.00095227●●●●●●
4. 37821644 c.32C>T p.S11L missense 0.00038091●●●●●●
5. 37822171 c.313G>C p.E105Q missense 0.00037436●●●●●●
6. 37822211 c.353C>T p.A118V missense 0.00025325●●●●●●
7. 37822316 c.458G>A p.R153H missense 0.00016765●●●●●●
8. 37821971 c.113G>T p.C38F missense 0.00015879●●●●●●
9. 37822171 c.313G>A p.E105K missense 0.00011318●●●●●●
10. 37822195 c.337C>T p.L113F missense 0.00011038●●●●●●
11. 37822003 c.145G>A p.E49K missense 0.00010427●●●●●●
12. 37821635 c.23_24insCGAGGTGT p.Glu12ArgfsTer20 frameshift 0.00007453●●●●●●
13. 37821709 c.97C>T p.R33W missense 0.00006646●●●●●●
14. 37822246 c.388C>T p.R130C missense 0.00005866●●●●●●
15. 37822069 c.211A>G p.M71V missense 0.00005192●●●●●●
16. 37822084 c.226C>T p.R76C missense 0.00005169●●●●●●
17. 37822175 c.317G>A p.R106H missense 0.00004315●●●●●●
18. 37822318 c.460C>T p.R154C missense 0.00004192●●●●●●
19. 37822306 c.448G>A p.G150S missense 0.00004170●●●●●●
20. 37821665 c.53G>A p.R18Q missense 0.00004141●●●●●●
21. 37822268 c.410C>A p.T137K missense 0.00003340●●●●●●
22. 37822279 c.421C>G p.P141A missense 0.00003339●●●●●●
23. 37822310 c.452C>T p.A151V missense 0.00003337●●●●●●
24. 37822029 c.171C>G p.C57W missense 0.00003123●●●●●●
25. 37822117 c.259C>T p.R87W missense 0.00002999●●●●●●
26. 37822319 c.461G>A p.R154H missense 0.00002516●●●●●●
27. 37821655 c.43T>A p.C15S missense 0.00002484●●●●●●
28. 37822046 c.188G>A p.R63H missense 0.00002108●●●●●●
29. 37822066 c.208C>T p.R70W missense 0.00002101●●●●●●
30. 37822045 c.187C>T p.R63C missense 0.00002100●●●●●●
31. 37822067 c.209G>A p.R70Q missense 0.00002091●●●●●●
32. 37822081 c.223G>A p.G75S missense 0.00002075●●●●●●
33. 37822338 c.480G>A p.M160I missense 0.00001685●●●●●●
34. 37822236 c.378G>C p.Q126H missense 0.00001679●●●●●●
35. 37822315 c.457C>A p.R153S missense 0.00001675●●●●●●
36. 37822315 c.457C>T p.R153C missense 0.00001675●●●●●●
37. 37821720 c.108G>A splice site 0.00001665●●●●●●
38. 37821715 c.103G>A p.E35K missense 0.00001664●●●●●●
39. 37821687 c.75G>A p.W25X nonsense 0.00001657●●●●●●
40. 37821662 c.50G>C p.R17P missense 0.00001656●●●●●●
41. 37821971 c.113G>A p.C38Y missense 0.00001134●●●●●●
42. 37822056 c.198G>C p.W66C missense 0.00001047●●●●●●
43. 37822060 c.202A>T p.M68L missense 0.00001045●●●●●●
44. 37822001 c.143A>G p.H48R missense 0.00001043●●●●●●
45. 37822028 c.170G>A p.C57Y missense 0.00001041●●●●●●
46. 37822070 c.212T>C p.M71T missense 0.00001039●●●●●●
47. 37822011 c.153C>A p.Y51X nonsense 0.00001038●●●●●●
48. 37822012 c.154C>G p.H52D missense 0.00001038●●●●●●
49. 37822009 c.151T>C p.Y51H missense 0.00001038●●●●●●
50. 37822010 c.152A>T p.Y51F missense 0.00001037●●●●●●
51. 37822085 c.227G>A p.R76H missense 0.00001036●●●●●●
52. 37822098 c.240G>T p.E80D missense 0.00001016●●●●●●
53. 37822120 c.262G>T p.V88L missense 0.00000987●●●●●●
54. 37822148 c.290C>T p.A97V missense 0.00000921●●●●●●
55. 37822153 c.295A>G p.M99V missense 0.00000909●●●●●●
56. 37822159 c.301G>A p.A101T missense 0.00000897●●●●●●
57. 37822174 c.316C>A p.R106S missense 0.00000867●●●●●●
58. 37822183 c.325A>G p.T109A missense 0.00000856●●●●●●
59. 37822189 c.331_332insT p.Gln112ProfsTer24 frameshift 0.00000851●●●●●●
60. 37822355 c.497G>A p.R166K missense 0.00000846●●●●●●
61. 37822331 c.473G>A p.R158H missense 0.00000841●●●●●●
62. 37822235 c.377A>G p.Q126R missense 0.00000840●●●●●●
63. 37822245 c.387C>G p.D129E missense 0.00000839●●●●●●
64. 37822318 c.460_471delCGCTCCCTGTCC p.Arg154_Ser157del inframe 0.00000838●●●●●●
65. 37822252 c.394G>A p.E132K missense 0.00000837●●●●●●
66. 37822294 c.436G>T p.V146F missense 0.00000834●●●●●●
67. 37821697 c.85A>T p.T29S missense 0.00000829●●●●●●
68. 37821662 c.50G>A p.R17H missense 0.00000828●●●●●●
69. 37821644 c.32C>G p.S11W missense 0.00000828●●●●●●
70. 37821655 c.43_44delTG p.Cys15Ter frameshift 0.00000828●●●●●●
71. 37821628 c.16C>A p.L6M missense 0.00000828●●●●●●
72. 37821617 c.5C>T p.A2V 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.