All transcript variants in gene TFE3

Information The variants shown are described using the NM_006521.4 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.106C>A r.(?) p.(Gln36Lys) g.48900647G>T Copied from the Exome Variant Server TFE3_000064 1/10169 0/6475 1/3694
?/? c.230+40T>G r.(=) p.(=) g.48897942A>C Copied from the Exome Variant Server TFE3_000063 1/10563 1/6728 0/3835
?/? c.231-9A>C r.(=) p.(=) g.48896944T>G Copied from the Exome Variant Server TFE3_000062 480/10559 4/6725 476/3834
?/? c.236C>T r.(?) p.(Pro79Leu) g.48896930G>A Copied from the Exome Variant Server TFE3_000061 1/10559 0/6725 1/3834
?/? c.282A>G r.(=) p.(=) g.48896884T>C Copied from the Exome Variant Server TFE3_000060 1/10561 1/6727 0/3834
?/? c.411C>T r.(=) p.(=) g.48896755G>A Copied from the Exome Variant Server TFE3_000059 8/10555 2/6725 6/3830
?/? c.451G>A r.(?) p.(Ala151Thr) g.48896715C>T Copied from the Exome Variant Server TFE3_000058 1/10561 0/6727 1/3834
?/? c.468C>T r.(=) p.(=) g.48896698G>A Copied from the Exome Variant Server TFE3_000057 2/10560 2/6727 0/3833
?/? c.469G>A r.(?) p.(Val157Ile) g.48896697C>T Copied from the Exome Variant Server TFE3_000056 1/10560 1/6727 0/3833
?/? c.650C>T r.(?) p.(Thr217Ile) g.48895852G>A Copied from the Exome Variant Server TFE3_000055 2/10549 2/6722 0/3827
?/? c.654A>G r.(=) p.(=) g.48895848T>C Copied from the Exome Variant Server TFE3_000054 1/10548 0/6719 1/3829
?/? c.667G>A r.(?) p.(Ala223Thr) g.48895835C>T Copied from the Exome Variant Server TFE3_000053 1/10542 1/6717 0/3825
?/? c.780+6A>G r.(=) p.(=) g.48895716T>C Copied from the Exome Variant Server TFE3_000052 1/10562 0/6727 1/3835
?/? c.780+35C>T r.(=) p.(=) g.48895687G>A Copied from the Exome Variant Server TFE3_000051 5/10563 4/6728 1/3835
?/? c.780+40C>A r.(=) p.(=) g.48895682G>T Copied from the Exome Variant Server TFE3_000050 1/10563 1/6728 0/3835
?/? c.781-13C>T r.(=) p.(=) g.48895652G>A Copied from the Exome Variant Server TFE3_000049 4/10563 0/6728 4/3835
?/? c.813G>A r.(=) p.(=) g.48895607C>T Copied from the Exome Variant Server TFE3_000048 1/10563 1/6728 0/3835
?/? c.886-42_886-41insG r.(=) p.(=) g.48891807_48891808insC Copied from the Exome Variant Server TFE3_000047 970/10102 8/6426 962/3676
?/? c.886-5C>T r.spl? p.? g.48891771G>A Copied from the Exome Variant Server TFE3_000046 1/10558 0/6724 1/3834
?/? c.923G>A r.(?) p.(Ser308Asn) g.48891729C>T Copied from the Exome Variant Server TFE3_000045 15/10563 0/6728 15/3835
?/? c.942A>G r.(=) p.(=) g.48891710T>C Copied from the Exome Variant Server TFE3_000044 10/10563 0/6728 10/3835
?/? c.1004-43C>T r.(=) p.(=) g.48891340G>A Copied from the Exome Variant Server TFE3_000043 6/10563 0/6728 6/3835
?/? c.1004-39C>A r.(=) p.(=) g.48891336G>T Copied from the Exome Variant Server TFE3_000042 830/10563 759/6728 71/3835
?/? c.1060+15G>A r.(=) p.(=) g.48891226C>T Copied from the Exome Variant Server TFE3_000041 1/10563 1/6728 0/3835
?/? c.1060+21A>C r.(=) p.(=) g.48891220T>G Copied from the Exome Variant Server TFE3_000040 2/10563 0/6728 2/3835
?/? c.1060+32G>A r.(=) p.(=) g.48891209C>T Copied from the Exome Variant Server TFE3_000039 1/10563 0/6728 1/3835
?/? c.1061-48T>C r.(=) p.(=) g.48891103A>G Copied from the Exome Variant Server TFE3_000038 1/10563 1/6728 0/3835
?/? c.1061-43A>T r.(=) p.(=) g.48891098T>A Copied from the Exome Variant Server TFE3_000037 1/10563 0/6728 1/3835
?/? c.1136+22C>G r.(=) p.(=) g.48890958G>C Copied from the Exome Variant Server TFE3_000036 11/10563 8/6728 3/3835
?/? c.1136+30C>T r.(=) p.(=) g.48890950G>A Copied from the Exome Variant Server TFE3_000035 15/10563 13/6728 2/3835
?/? c.1189C>T r.(?) p.(Arg397Cys) g.48889007G>A Copied from the Exome Variant Server TFE3_000034 1/10555 1/6722 0/3833
?/? c.1284+15G>T r.(=) p.(=) g.48888897C>A Copied from the Exome Variant Server TFE3_000033 115/10560 0/6726 115/3834
?/? c.1284+35G>A r.(=) p.(=) g.48888877C>T Copied from the Exome Variant Server TFE3_000032 3/10550 3/6718 0/3832
?/? c.1284+44T>G r.(=) p.(=) g.48888868A>C Copied from the Exome Variant Server TFE3_000031 1/10545 0/6715 1/3830
?/? c.1285-11A>G r.(=) p.(=) g.48888123T>C Copied from the Exome Variant Server TFE3_000030 1/10560 1/6726 0/3834
?/? c.1310A>G r.(?) p.(His437Arg) g.48888087T>C Copied from the Exome Variant Server TFE3_000029 1/10563 1/6728 0/3835
?/? c.1323A>G r.(=) p.(=) g.48888074T>C Copied from the Exome Variant Server TFE3_000028 3855/10562 3549/6728 306/3834
?/? c.1337G>A r.(?) p.(Gly446Glu) g.48888060C>T Copied from the Exome Variant Server TFE3_000027 1/10563 0/6728 1/3835
?/? c.1338G>A r.(=) p.(=) g.48888059C>T Copied from the Exome Variant Server TFE3_000026 1/10563 1/6728 0/3835
?/? c.1363G>T r.(?) p.(Ala455Ser) g.48888034C>A Copied from the Exome Variant Server TFE3_000025 1/10563 0/6728 1/3835
?/? c.1408G>A r.(?) p.(Gly470Ser) g.48887989C>T Copied from the Exome Variant Server TFE3_000024 5/10563 4/6728 1/3835
?/? c.1426A>G r.(?) p.(Thr476Ala) g.48887971T>C Copied from the Exome Variant Server TFE3_000023 2/10563 0/6728 2/3835
?/? c.1439G>C r.(?) p.(Gly480Ala) g.48887958C>G Copied from the Exome Variant Server TFE3_000022 13/10562 8/6727 5/3835
?/? c.1447C>T r.(?) p.(Pro483Ser) g.48887950G>A Copied from the Exome Variant Server TFE3_000021 1/10562 1/6727 0/3835
?/? c.1450G>A r.(?) p.(Ala484Thr) g.48887947C>T Copied from the Exome Variant Server TFE3_000020 115/10563 0/6728 115/3835
?/? c.1451C>T r.(?) p.(Ala484Val) g.48887946G>A Copied from the Exome Variant Server TFE3_000019 18/10563 0/6728 18/3835
?/? c.1462C>T r.(?) p.(Pro488Ser) g.48887935G>A Copied from the Exome Variant Server TFE3_000018 2/10562 0/6727 2/3835
?/? c.1465C>A r.(?) p.(His489Asn) g.48887932G>T Copied from the Exome Variant Server TFE3_000017 1/10562 1/6727 0/3835
?/? c.1473G>A r.(=) p.(=) g.48887924C>T Copied from the Exome Variant Server TFE3_000016 1/10562 1/6727 0/3835
?/? c.1589_1591del r.(?) p.(Glu530del) g.48887806_48887808del Copied from the Exome Variant Server TFE3_000015 34/10189 20/6472 14/3717
?/? c.1611G>A r.(=) p.(=) g.48887786C>T Copied from the Exome Variant Server TFE3_000014 3/10557 0/6722 3/3835
?/? c.1673C>T r.(?) p.(Ala558Val) g.48887724G>A Copied from the Exome Variant Server TFE3_000013 1/10545 1/6714 0/3831
?/? c.1696C>T r.(?) p.(Arg566Cys) g.48887701G>A Copied from the Exome Variant Server TFE3_000012 1/10529 1/6710 0/3819
?/? c.*75C>T r.(=) p.(=) g.48887594G>A Copied from the Exome Variant Server TFE3_000011 1/4524 1/3106 0/1418
?/? c.*165G>A r.(=) p.(=) g.48887504C>T Copied from the Exome Variant Server TFE3_000010 4/4525 3/3107 1/1418
?/? c.*181C>T r.(=) p.(=) g.48887488G>A Copied from the Exome Variant Server TFE3_000009 1/4525 0/3107 1/1418
?/? c.*244C>G r.(=) p.(=) g.48887425G>C Copied from the Exome Variant Server TFE3_000008 2/4525 2/3107 0/1418
?/? c.*245A>G r.(=) p.(=) g.48887424T>C Copied from the Exome Variant Server TFE3_000007 7/4525 0/3107 7/1418
?/? c.*246T>G r.(=) p.(=) g.48887423A>C Copied from the Exome Variant Server TFE3_000006 1/4525 0/3107 1/1418
?/? c.*264C>A r.(=) p.(=) g.48887405G>T Copied from the Exome Variant Server TFE3_000005 2/4525 2/3107 0/1418
?/? c.*350T>A r.(=) p.(=) g.48887319A>T Copied from the Exome Variant Server TFE3_000004 1/4525 1/3107 0/1418
?/? c.*402G>A r.(=) p.(=) g.48887267C>T Copied from the Exome Variant Server TFE3_000003 1/4525 1/3107 0/1418
?/? c.*502C>T r.(=) p.(=) g.48887167G>A Copied from the Exome Variant Server TFE3_000002 1/4525 0/3107 1/1418
?/? c.*530G>T r.(=) p.(=) g.48887139C>A Copied from the Exome Variant Server TFE3_000001 20/4525 0/3107 20/1418
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