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