TTN inframe variants in ExAC


The table below lists the TTN 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 frequencyPopulations*
1. 179544688 c.33513_33515dupAGA p.Glu11171dup inframe 0.01100754
2. 179542392 c.34247_34249delAAG p.Glu11416del inframe 0.00282770
3. 179436259 c.74600_74602delCAA p.Thr24867del inframe 0.00130564
4. 179395828 c.105514_105516delTCT p.S35172del1 inframe 0.00030637
5. 179486462 c.45089_45091delAAG p.E15030_A15031delinsA inframe 0.00021634
6. 179416863 c.90764_90766delGAG p.G30255_E30256delinsE inframe 0.00021564
7. 179539086 c.34663_34665delGAA p.Glu11555del inframe 0.00018190
8. 179514603 c.39836_39838delAGA p.Lys13279del inframe 0.00015758
9. 179664628 c.593_595delAAG p.E198_V199delinsV inframe 0.00014894
10. 179544688 c.33513_33515delAGA p.Glu11172del inframe 0.00014123
11. 179424127 c.86732_86734delAAG p.E28911_G28912delinsG inframe 0.00013262
12. 179453518 c.62934_62936delAGA p.E20978_E20979delinsE inframe 0.00010817
13. 179474103 c.51934_51936delGAA p.E17312del1 inframe 0.00010021
14. 179418740 c.89098_89100delGAA p.Glu29700del inframe 0.00009948
15. 179570051 c.29454_29456delAGA p.Glu9820del inframe 0.00007086
16. 179513992 c.40040_40042delAAG p.Glu13347del inframe 0.00006761
17. 179459169 c.58052_58054delAAG p.Glu19351del inframe 0.00006661
18. 179424608 c.86251_86253delGAA p.Glu28751del inframe 0.00005816
19. 179490064 c.44484_44486delAGA p.Glu14828del inframe 0.00005806
20. 179422462 c.87619_87621delGAA p.Glu29207del inframe 0.00005797
21. 179543189 c.33862_33864delAAG p.Lys11288del inframe 0.00005517
22. 179398426 c.102916_102918delAAG p.Lys34306del inframe 0.00004146
23. 179434293 c.76566_76568dupAAG p.Arg25523dup inframe 0.00003408
24. 179434473 c.76386_76388delTAA p.N25462_K25463delinsK inframe 0.00003337
25. 179403732 c.98930_98932delATG p.Asp32977del inframe 0.00003320
26. 179451347 c.64281_64283delTGT p.Val21428del inframe 0.00003318
27. 179484953 c.46295_46297delAAG p.Glu15432del inframe 0.00002736
28. 179442347 c.68806_68808delATT p.Ile22936del inframe 0.00002576
29. 179466116 c.55608_55610delCAC p.Thr18537del inframe 0.00002500
30. 179501449 c.41005_41007delCCT p.Pro13669del inframe 0.00002498
31. 179414952 c.91613_91615delTTA p.Ile30538del inframe 0.00002491
32. 179397677 c.103665_103667delAGA p.E34555_D34556delinsD inframe 0.00002485
33. 179528220 c.36556_36558delGTT p.Val12186del inframe 0.00001702
34. 179484774 c.46370_46371insTGA p.Asp15456dup inframe 0.00001670
35. 179587950 c.21784_21786delACT p.Thr7262del inframe 0.00001669
36. 179419755 c.88431_88436delTGATAA p.Asp29477_Lys29479delinsGlu inframe 0.00001667
37. 179585157 c.23332_23334delAAT p.Asn7778del inframe 0.00001662
38. 179421692 c.88189_88191delATC p.Ile29397del inframe 0.00001661
39. 179516833 c.39285_39287delTCC p.Pro13097del inframe 0.00001660
40. 179397418 c.103924_103926delCCT p.Pro34642del inframe 0.00001658
41. 179393673 c.106805_106807delAAG p.Glu35602del inframe 0.00001658
42. 179410288 c.95549_95551delAGA p.Lys31850del inframe 0.00001656
43. 179654710 c.1933_1935delGAG p.Glu645del inframe 0.00001649
44. 179402072 c.99862_99864dupCAA p.Gln33288dup inframe 0.00001162
45. 179585915 c.22831_22833delGTT p.Val7611del inframe 0.00001039
46. 179570036 c.29469_29471delCAT p.Ile9823del inframe 0.00001014
47. 179558714 c.31448_31450delAGA p.Lys10483del inframe 0.00000964
48. 179477993 c.49543_49545delCTC p.Leu16515del inframe 0.00000953
49. 179485016 c.46232_46234delCCT p.Ser15411del inframe 0.00000908
50. 179455005 c.61447_61449delCGT p.Arg20483del inframe 0.00000900
51. 179592331 c.19974_19976delTAC p.T6658_T6659delinsT inframe 0.00000889
52. 179474436 c.51714_51716delTCC p.Pro17239del inframe 0.00000876
53. 179589254 c.20848_20850delATT p.Ile6950del inframe 0.00000875
54. 179593807 c.18958_18960delCCT p.Pro6320del inframe 0.00000870
55. 179415713 c.91545_91547delTAT p.Ile30515del inframe 0.00000867
56. 179528748 c.36358_36360delGTT p.Val12120del inframe 0.00000866
57. 179423099 c.87087_87089delTCT p.Leu29031del inframe 0.00000857
58. 179547582 c.32936_32938delAAG p.Glu10979del inframe 0.00000857
59. 179595690 c.17702_17704delTTG p.Val5901del inframe 0.00000851
60. 179656920 c.1541_1543delGAA p.Arg514del inframe 0.00000849
61. 179517798 c.38845_38847delCCT p.Pro12949del inframe 0.00000843
62. 179410796 c.95167_95169delGAG p.Glu31723del inframe 0.00000838
63. 179474154 c.51883_51885delAAG p.Lys17295del inframe 0.00000836
64. 179436238 c.74621_74623delAGA p.Lys24874del inframe 0.00000836
65. 179419748 c.88438_88440delGAA p.Glu29480del inframe 0.00000834
66. 179587242 c.22272_22277delATTAAA p.Leu7425_Lys7426del inframe 0.00000834
67. 179483181 c.47004_47012delAACATTTGA p.Glu15668_Phe15670del inframe 0.00000834
68. 179576926 c.27631_27636delTTGGAG p.Leu9211_Glu9212del inframe 0.00000833
69. 179536793 c.35132_35133insTGTCTTTCTTCTGTATTTCTTGTTTCTGAC p.Glu11711delinsAspValPheLeuLeuTyrPheLeuPheLeuThr inframe 0.00000833
70. 179485229 c.46019_46021delAAG p.Glu15340del inframe 0.00000833
71. 179481273 c.48245_48247delATG p.Asp16082del inframe 0.00000832
72. 179424710 c.86149_86151delACA p.Thr28717del inframe 0.00000832
73. 179396890 c.104452_104454delGAA p.Glu34818del inframe 0.00000832
74. 179403953 c.98709_98711delTCC p.Pro32904del inframe 0.00000831
75. 179437315 c.73544_73555delGAGTTCTCGATA p.Arg24515_Asp24518del inframe 0.00000831
76. 179454160 c.62292_62294delAGA p.Glu20764del inframe 0.00000831
77. 179466768 c.55230_55232delATC p.Ser18411del inframe 0.00000831
78. 179443690 c.68067_68069delCAA p.Asn22689del inframe 0.00000830
79. 179485505 c.45832_45834delAAT p.Asn15278del inframe 0.00000830
80. 179396834 c.104508_104510delACT p.Leu34837del inframe 0.00000830
81. 179481675 c.47941_47942insTCA p.Ile15980dup inframe 0.00000830
82. 179544670 c.33531_33533delAGA p.Glu11179del inframe 0.00000830
83. 179641750 c.4841_4842insTGC p.Ala1614dup inframe 0.00000830
84. 179398200 c.103142_103144delGCT p.Cys34381del inframe 0.00000830
85. 179434858 c.76001_76003delGTG p.Ser25334_Glu25335delinsLys inframe 0.00000830
86. 179435935 c.74924_74926delAAG p.Glu24975del inframe 0.00000829
87. 179430290 c.80569_80571delAAT p.Asn26857del inframe 0.00000829
88. 179604228 c.13732_13734delGAG p.Glu4578del inframe 0.00000829
89. 179397421 c.103921_103923delTCT p.Ser34641del inframe 0.00000829
90. 179417441 c.90186_90188delCAC p.Thr30063del inframe 0.00000829
91. 179456422 c.60124_60126delCAA p.Q20042del1 inframe 0.00000829
92. 179412551 c.93802_93803insCAA p.Thr31267dup inframe 0.00000829
93. 179429002 c.81857_81858insCATCGT p.Ile27285_Val27286dup inframe 0.00000829
94. 179414935 c.91630_91632delCTT p.Leu30544del inframe 0.00000829
95. 179433653 c.77206_77208dupGAA p.Glu25736dup inframe 0.00000829
96. 179424240 c.86619_86621delTGG p.Gly28874del inframe 0.00000829
97. 179430268 c.80591_80593delCAA p.Pro26864del inframe 0.00000829
98. 179419298 c.88776_88778delCAT p.Ile29593del inframe 0.00000829
99. 179583125 c.24708_24710delGGA p.Glu8236del inframe 0.00000829
100. 179542496 c.34143_34145delAGA p.Glu11383del inframe 0.00000829
101. 179567226 c.30388_30390delCGC p.Arg10130del inframe 0.00000828
102. 179552866 c.32283_32285delGGA p.Glu10763del inframe 0.00000828
103. 179431050 c.79809_79811delTGT p.Val26604del inframe 0.00000828
104. 179586681 c.22709_22711delCTC p.Pro7570del inframe 0.00000828
105. 179399814 c.101528_101530delAGA p.Lys33843del inframe 0.00000828
106. 179397751 c.103591_103593delAAG p.Lys34531del inframe 0.00000828
107. 179552880 c.32269_32271delGAA p.Glu10757del inframe 0.00000828
108. 179410244 c.95593_95595delGAT p.Asp31865del inframe 0.00000828
109. 179645899 c.3472_3474delGTT p.Val1158del inframe 0.00000826
110. 179650628 c.2317_2319delTCT p.Ser773del inframe 0.00000824
111. 179632774 c.9272_9274delTGA p.Met3091del inframe 0.00000824
112. 179659231 c.1293_1295delTGC p.A431_A432delinsA inframe 0.00000824
113. 179658173 c.1494_1496delAAT p.Ile499del inframe 0.00000824
114. 179655464 c.1771_1773delCAA p.Gln591del inframe 0.00000824

* 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.