TTN inframe variants in ExAC

TTN gene summary
TTN variants in

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

* 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.