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. 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. 179393673 c.106805_106807delAAG p.Glu35602del inframe 0.00001658●●●●●●
41. 179397418 c.103924_103926delCCT p.Pro34642del 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. 179436238 c.74621_74623delAGA p.Lys24874del inframe 0.00000836●●●●●●
64. 179474154 c.51883_51885delAAG p.Lys17295del inframe 0.00000836●●●●●●
65. 179419748 c.88438_88440delGAA p.Glu29480del inframe 0.00000834●●●●●●
66. 179483181 c.47004_47012delAACATTTGA p.Glu15668_Phe15670del inframe 0.00000834●●●●●●
67. 179587242 c.22272_22277delATTAAA p.Leu7425_Lys7426del inframe 0.00000834●●●●●●
68. 179485229 c.46019_46021delAAG p.Glu15340del inframe 0.00000833●●●●●●
69. 179536793 c.35132_35133insTGTCTTTCTTCTGTATTTCTTGTTTCTGAC p.Glu11711delinsAspValPheLeuLeuTyrPheLeuPheLeuThr inframe 0.00000833●●●●●●
70. 179576926 c.27631_27636delTTGGAG p.Leu9211_Glu9212del inframe 0.00000833●●●●●●
71. 179396890 c.104452_104454delGAA p.Glu34818del inframe 0.00000832●●●●●●
72. 179424710 c.86149_86151delACA p.Thr28717del inframe 0.00000832●●●●●●
73. 179481273 c.48245_48247delATG p.Asp16082del 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. 179396834 c.104508_104510delACT p.Leu34837del inframe 0.00000830●●●●●●
79. 179398200 c.103142_103144delGCT p.Cys34381del inframe 0.00000830●●●●●●
80. 179434858 c.76001_76003delGTG p.Ser25334_Glu25335delinsLys inframe 0.00000830●●●●●●
81. 179443690 c.68067_68069delCAA p.Asn22689del inframe 0.00000830●●●●●●
82. 179481675 c.47941_47942insTCA p.Ile15980dup inframe 0.00000830●●●●●●
83. 179485505 c.45832_45834delAAT p.Asn15278del inframe 0.00000830●●●●●●
84. 179544670 c.33531_33533delAGA p.Glu11179del inframe 0.00000830●●●●●●
85. 179641750 c.4841_4842insTGC p.Ala1614dup inframe 0.00000830●●●●●●
86. 179456422 c.60124_60126delCAA p.Q20042del1 inframe 0.00000829●●●●●●
87. 179397421 c.103921_103923delTCT p.Ser34641del inframe 0.00000829●●●●●●
88. 179412551 c.93802_93803insCAA p.Thr31267dup inframe 0.00000829●●●●●●
89. 179414935 c.91630_91632delCTT p.Leu30544del inframe 0.00000829●●●●●●
90. 179417441 c.90186_90188delCAC p.Thr30063del inframe 0.00000829●●●●●●
91. 179419298 c.88776_88778delCAT p.Ile29593del inframe 0.00000829●●●●●●
92. 179424240 c.86619_86621delTGG p.Gly28874del inframe 0.00000829●●●●●●
93. 179429002 c.81857_81858insCATCGT p.Ile27285_Val27286dup inframe 0.00000829●●●●●●
94. 179430268 c.80591_80593delCAA p.Pro26864del inframe 0.00000829●●●●●●
95. 179430290 c.80569_80571delAAT p.Asn26857del inframe 0.00000829●●●●●●
96. 179433653 c.77206_77208dupGAA p.Glu25736dup inframe 0.00000829●●●●●●
97. 179435935 c.74924_74926delAAG p.Glu24975del inframe 0.00000829●●●●●●
98. 179542496 c.34143_34145delAGA p.Glu11383del inframe 0.00000829●●●●●●
99. 179583125 c.24708_24710delGGA p.Glu8236del inframe 0.00000829●●●●●●
100. 179604228 c.13732_13734delGAG p.Glu4578del inframe 0.00000829●●●●●●
101. 179397751 c.103591_103593delAAG p.Lys34531del inframe 0.00000828●●●●●●
102. 179399814 c.101528_101530delAGA p.Lys33843del inframe 0.00000828●●●●●●
103. 179410244 c.95593_95595delGAT p.Asp31865del inframe 0.00000828●●●●●●
104. 179431050 c.79809_79811delTGT p.Val26604del inframe 0.00000828●●●●●●
105. 179552866 c.32283_32285delGGA p.Glu10763del inframe 0.00000828●●●●●●
106. 179552880 c.32269_32271delGAA p.Glu10757del inframe 0.00000828●●●●●●
107. 179567226 c.30388_30390delCGC p.Arg10130del inframe 0.00000828●●●●●●
108. 179586681 c.22709_22711delCTC p.Pro7570del inframe 0.00000828●●●●●●
109. 179645899 c.3472_3474delGTT p.Val1158del inframe 0.00000826●●●●●●
110. 179659231 c.1293_1295delTGC p.A431_A432delinsA inframe 0.00000824●●●●●●
111. 179632774 c.9272_9274delTGA p.Met3091del inframe 0.00000824●●●●●●
112. 179650628 c.2317_2319delTCT p.Ser773del inframe 0.00000824●●●●●●
113. 179655464 c.1771_1773delCAA p.Gln591del inframe 0.00000824●●●●●●
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.