All transcript variants in gene TBX2

Information The variants shown are described using the NM_005994.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.99G>T r.(=) p.(=) g.59477636G>T Copied from the Exome Variant Server TBX2_000001 5/9548 0/6520 5/3028
?/? c.246G>A r.(=) p.(=) g.59477783G>A Copied from the Exome Variant Server TBX2_000002 1/12678 0/8404 1/4274
?/? c.248A>G r.(?) p.(His83Arg) g.59477785A>G Copied from the Exome Variant Server TBX2_000003 1/12700 1/8420 0/4280
?/? c.250C>A r.(?) p.(Pro84Thr) g.59477787C>A Copied from the Exome Variant Server TBX2_000004 1/12716 1/8426 0/4290
?/? c.324G>C r.(=) p.(=) g.59477861G>C Copied from the Exome Variant Server TBX2_000005 2/12890 0/8538 2/4352
?/? c.366C>A r.(=) p.(=) g.59477903C>A Copied from the Exome Variant Server TBX2_000006 894/12884 456/8532 438/4352
?/? c.376G>A r.(?) p.(Val126Ile) g.59477913G>A Copied from the Exome Variant Server TBX2_000007 1/12822 1/8494 0/4328
?/? c.395+29_395+32del r.(=) p.(=) g.59477961_59477964del Copied from the Exome Variant Server TBX2_000008 22/2862 16/2074 6/788
?/? c.396-11C>T r.(=) p.(=) g.59479034C>T Copied from the Exome Variant Server TBX2_000009 1/13004 1/8600 0/4404
?/? c.423A>G r.(=) p.(=) g.59479072A>G Copied from the Exome Variant Server TBX2_000011 1/13006 1/8600 0/4406
?/? c.424G>C r.(?) p.(Val142Leu) g.59479073G>C Copied from the Exome Variant Server TBX2_000010 1/13006 0/8600 1/4406
?/? c.426C>T r.(=) p.(=) g.59479075C>T Copied from the Exome Variant Server TBX2_000012 1/13006 1/8600 0/4406
?/? c.429C>T r.(=) p.(=) g.59479078C>T Copied from the Exome Variant Server TBX2_000013 1/13006 1/8600 0/4406
?/? c.442A>C r.(?) p.(Lys148Gln) g.59479091A>C Copied from the Exome Variant Server TBX2_000014 3/13006 0/8600 3/4406
?/? c.452A>G r.(?) p.(Tyr151Cys) g.59479101A>G Copied from the Exome Variant Server TBX2_000015 1/13006 1/8600 0/4406
?/? c.454A>T r.(?) p.(Ile152Phe) g.59479103A>T Copied from the Exome Variant Server TBX2_000016 1/13006 1/8600 0/4406
?/? c.464T>C r.(?) p.(Met155Thr) g.59479113T>C Copied from the Exome Variant Server TBX2_000017 4/13006 4/8600 0/4406
?/? c.554G>A r.(?) p.(Arg185His) g.59479203G>A Copied from the Exome Variant Server TBX2_000018 1/13006 0/8600 1/4406
?/? c.581C>A r.(?) p.(Ala194Asp) g.59479230C>A Copied from the Exome Variant Server TBX2_000019 1/13006 0/8600 1/4406
?/? c.630G>A r.(=) p.(=) g.59479279G>A Copied from the Exome Variant Server TBX2_000020 1/13006 1/8600 0/4406
?/? c.663+37T>A r.(=) p.(=) g.59479349T>A Copied from the Exome Variant Server TBX2_000021 1/13002 0/8598 1/4404
?/? c.664-14C>T r.(=) p.(=) g.59480408C>T Copied from the Exome Variant Server TBX2_000022 1/13006 0/8600 1/4406
?/? c.752G>A r.(?) p.(Arg251His) g.59480510G>A Copied from the Exome Variant Server TBX2_000023 1/13006 1/8600 0/4406
?/? c.789C>T r.(=) p.(=) g.59480547C>T Copied from the Exome Variant Server TBX2_000024 13/13006 13/8600 0/4406
?/? c.810+15C>A r.(=) p.(=) g.59480583C>A Copied from the Exome Variant Server TBX2_000025 4/13006 0/8600 4/4406
?/? c.810+52G>A r.(=) p.(=) g.59480620G>A Copied from the Exome Variant Server TBX2_000026 1/7270 0/4616 1/2654
?/? c.811-56C>T r.(=) p.(=) g.59481726C>T Copied from the Exome Variant Server TBX2_000027 17/4566 1/3182 16/1384
?/? c.820C>A r.(?) p.(Leu274Met) g.59481791C>A Copied from the Exome Variant Server TBX2_000028 1/12996 0/8600 1/4396
?/? c.879G>C r.(=) p.(=) g.59481850G>C Copied from the Exome Variant Server TBX2_000029 1/12996 0/8598 1/4398
?/? c.887+30_887+31insG r.(=) p.(=) g.59481888_59481889insG Copied from the Exome Variant Server TBX2_000030 195/12442 126/8220 69/4222
?/? c.887+53_887+54insA r.(=) p.(=) g.59481911_59481912insA Copied from the Exome Variant Server TBX2_000031 1/12478 1/8238 0/4240
?/? c.888-43G>T r.(=) p.(=) g.59481924G>T Copied from the Exome Variant Server TBX2_000032 105/12992 0/8598 105/4394
?/? c.888-42G>T r.(=) p.(=) g.59481925G>T Copied from the Exome Variant Server TBX2_000033 1/12992 1/8598 0/4394
?/? c.888-33C>T r.(=) p.(=) g.59481934C>T Copied from the Exome Variant Server TBX2_000034 10/12996 0/8598 10/4398
?/? c.911T>C r.(?) p.(Leu304Pro) g.59481990T>C Copied from the Exome Variant Server TBX2_000035 1/13000 1/8600 0/4400
?/? c.913C>A r.(?) p.(Arg305Ser) g.59481992C>A Copied from the Exome Variant Server TBX2_000036 1/12998 1/8598 0/4400
?/? c.953C>A r.(?) p.(Ala318Glu) g.59482032C>A Copied from the Exome Variant Server TBX2_000037 2/12986 2/8592 0/4394
?/? c.965C>T r.(?) p.(Ala322Val) g.59482044C>T Copied from the Exome Variant Server TBX2_000038 1/12972 1/8584 0/4388
?/? c.971C>T r.(?) p.(Ser324Leu) g.59482050C>T Copied from the Exome Variant Server TBX2_000039 1/12962 0/8578 1/4384
?/? c.986C>A r.(?) p.(Pro329His) g.59482065C>A Copied from the Exome Variant Server TBX2_000040 20/12876 15/8528 5/4348
?/? c.1008C>T r.(=) p.(=) g.59482087C>T Copied from the Exome Variant Server TBX2_000041 1/12466 1/8260 0/4206
?/? c.1034G>T r.(?) p.(Arg345Leu) g.59482113G>T Copied from the Exome Variant Server TBX2_000042 1/11388 1/7598 0/3790
?/? c.1051+19G>A r.(=) p.(=) g.59482149G>A Copied from the Exome Variant Server TBX2_000043 105/10086 5/6922 100/3164
?/? c.1051+35_1051+36del r.(=) p.(=) g.59482165_59482166del Copied from the Exome Variant Server TBX2_000044 4996/8700 4202/5962 794/2738
?/? c.1051+36del r.(=) p.(=) g.59482166del Copied from the Exome Variant Server TBX2_000045 5145/8822 4302/6042 843/2780
?/? c.1051+39del r.(=) p.(=) g.59482169del Copied from the Exome Variant Server TBX2_000046 5285/8692 4400/6004 885/2688
?/? c.1051+43G>A r.(=) p.(=) g.59482173G>A Copied from the Exome Variant Server TBX2_000047 284/9220 254/6380 30/2840
?/? c.1051+43_1051+44insA r.(=) p.(=) g.59482173_59482174insA Copied from the Exome Variant Server TBX2_000048 5282/8748 4406/6066 876/2682
?/? c.1113del r.(?) p.(Ala372Argfs*5) g.59482624del Copied from the Exome Variant Server TBX2_000049 25/10100 18/6852 7/3248
?/? c.1125G>A r.(=) p.(=) g.59482636G>A Copied from the Exome Variant Server TBX2_000050 34/10744 3/7248 31/3496
?/? c.1179C>T r.(=) p.(=) g.59482690C>T Copied from the Exome Variant Server TBX2_000051 28/10742 0/7186 28/3556
?/? c.1212G>A r.(=) p.(=) g.59482723G>A Copied from the Exome Variant Server TBX2_000052 53/11126 47/7468 6/3658
?/? c.1236_1237insGG r.(?) p.(Asp414Glyfs*7) g.59482747_59482748insGG Copied from the Exome Variant Server TBX2_000053 520/8606 365/5854 155/2752
?/? c.1325G>A r.(?) p.(Gly442Asp) g.59482836G>A Copied from the Exome Variant Server TBX2_000054 2/12658 1/8382 1/4276
?/? c.1492A>G r.(?) p.(Met498Val) g.59483003A>G Copied from the Exome Variant Server TBX2_000055 2/12816 0/8490 2/4326
?/? c.1686+5G>A r.spl? p.? g.59483202G>A Copied from the Exome Variant Server TBX2_000056 20/12088 0/7998 20/4090
?/? c.1686+17C>A r.(=) p.(=) g.59483214C>A Copied from the Exome Variant Server TBX2_000057 4/11744 0/7782 4/3962
?/? c.1687-22C>T r.(=) p.(=) g.59485393C>T Copied from the Exome Variant Server TBX2_000058 9160/13006 6222/8600 2938/4406
?/? c.1687-21G>A r.(=) p.(=) g.59485394G>A Copied from the Exome Variant Server TBX2_000059 1/13006 0/8600 1/4406
?/? c.1693C>G r.(?) p.(Pro565Ala) g.59485421C>G Copied from the Exome Variant Server TBX2_000060 1/13006 1/8600 0/4406
?/? c.1712G>C r.(?) p.(Gly571Ala) g.59485440G>C Copied from the Exome Variant Server TBX2_000061 53/13006 0/8600 53/4406
?/? c.1726C>A r.(?) p.(Pro576Thr) g.59485454C>A Copied from the Exome Variant Server TBX2_000062 1/13006 0/8600 1/4406
?/? c.1735T>C r.(?) p.(Tyr579His) g.59485463T>C Copied from the Exome Variant Server TBX2_000063 1/13002 0/8598 1/4404
?/? c.1800C>A r.(=) p.(=) g.59485528C>A Copied from the Exome Variant Server TBX2_000064 21/12808 18/8492 3/4316
?/? c.1803_1804insGCC r.(?) p.(Ala603dup) g.59485531_59485532insGCC Copied from the Exome Variant Server TBX2_000065 6/12284 1/8122 5/4162
?/? c.1810G>A r.(?) p.(Gly604Ser) g.59485538G>A Copied from the Exome Variant Server TBX2_000066 3/12942 0/8564 3/4378
?/? c.1821C>T r.(=) p.(=) g.59485549C>T Copied from the Exome Variant Server TBX2_000067 1/12972 0/8588 1/4384
?/? c.1827C>T r.(=) p.(=) g.59485555C>T Copied from the Exome Variant Server TBX2_000068 7492/12988 6225/8592 1267/4396
?/? c.1858C>T r.(?) p.(Arg620Cys) g.59485586C>T Copied from the Exome Variant Server TBX2_000069 1/13000 1/8596 0/4404
?/? c.1892C>T r.(?) p.(Pro631Leu) g.59485620C>T Copied from the Exome Variant Server TBX2_000070 1/12996 1/8592 0/4404
?/? c.1929T>C r.(=) p.(=) g.59485657T>C Copied from the Exome Variant Server TBX2_000071 1/12978 1/8590 0/4388
?/? c.1945G>A r.(?) p.(Ala649Thr) g.59485673G>A Copied from the Exome Variant Server TBX2_000072 1/12958 0/8570 1/4388
?/? c.1961G>A r.(?) p.(Arg654Gln) g.59485689G>A Copied from the Exome Variant Server TBX2_000073 2/12952 0/8564 2/4388
?/? c.1980C>T r.(=) p.(=) g.59485708C>T Copied from the Exome Variant Server TBX2_000074 1/12914 1/8554 0/4360
?/? c.1992del r.(?) p.(Arg665Alafs*3) g.59485720del Copied from the Exome Variant Server TBX2_000075 1/12344 1/8162 0/4182
?/? c.2014C>T r.(?) p.(Arg672Cys) g.59485742C>T Copied from the Exome Variant Server TBX2_000076 1/12696 1/8416 0/4280
?/? c.2030C>T r.(?) p.(Pro677Leu) g.59485758C>T Copied from the Exome Variant Server TBX2_000077 96/12532 86/8306 10/4226
?/? c.2040G>A r.(=) p.(=) g.59485768G>A Copied from the Exome Variant Server TBX2_000078 3/12368 0/8208 3/4160
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