All transcript variants in gene TGFBR1

Information The variants shown are described using the NM_001130916.1 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.98-45C>T r.(=) p.(=) g.101891092C>T Copied from the Exome Variant Server TGFBR1_000001 1/12988 0/8594 1/4394
?/? c.120C>T r.(=) p.(=) g.101891159C>T Copied from the Exome Variant Server TGFBR1_000002 3/13006 2/8600 1/4406
?/? c.135T>C r.(=) p.(=) g.101891174T>C Copied from the Exome Variant Server TGFBR1_000003 1/13006 0/8600 1/4406
?/? c.192A>G r.(=) p.(=) g.101891231A>G Copied from the Exome Variant Server TGFBR1_000004 10/13006 0/8600 10/4406
?/? c.207C>T r.(=) p.(=) g.101891246C>T Copied from the Exome Variant Server TGFBR1_000005 2/13006 2/8600 0/4406
?/? c.214A>T r.(?) p.(Ile72Leu) g.101891253A>T Copied from the Exome Variant Server TGFBR1_000006 4/13006 3/8600 1/4406
?/? c.318C>T r.(=) p.(=) g.101891357C>T Copied from the Exome Variant Server TGFBR1_000007 1/13006 0/8600 1/4406
?/? c.342T>G r.(=) p.(=) g.101891381T>G Copied from the Exome Variant Server TGFBR1_000008 1/13006 1/8600 0/4406
?/? c.343+1G>A r.spl? p.? g.101891383G>A Copied from the Exome Variant Server TGFBR1_000009 1/13006 0/8600 1/4406
?/? c.343+3A>G r.spl? p.? g.101891385A>G Copied from the Exome Variant Server TGFBR1_000010 1/13006 1/8600 0/4406
?/? c.343+33A>G r.(=) p.(=) g.101891415A>G Copied from the Exome Variant Server TGFBR1_000011 30/13002 1/8596 29/4406
?/? c.343+46T>G r.(=) p.(=) g.101891428T>G Copied from the Exome Variant Server TGFBR1_000013 23/13002 22/8598 1/4404
?/? c.343+3361G>A r.(=) p.(=) g.101894743G>A Copied from the Exome Variant Server TGFBR1_000015 1/13006 0/8600 1/4406
?/? c.343+3371C>T r.(=) p.(=) g.101894753C>T Copied from the Exome Variant Server TGFBR1_000017 1/13006 0/8600 1/4406
?/? c.343+3372G>A r.(=) p.(=) g.101894754G>A Copied from the Exome Variant Server TGFBR1_000019 2/13006 2/8600 0/4406
?/? c.343+3393C>T r.(=) p.(=) g.101894775C>T Copied from the Exome Variant Server TGFBR1_000012 1/13006 1/8600 0/4406
?/? c.343+3418C>T r.(=) p.(=) g.101894800C>T Copied from the Exome Variant Server TGFBR1_000014 1/13006 1/8600 0/4406
?/? c.343+3435G>A r.(=) p.(=) g.101894817G>A Copied from the Exome Variant Server TGFBR1_000016 1/13006 1/8600 0/4406
?/? c.343+3480A>G r.(=) p.(=) g.101894862A>G Copied from the Exome Variant Server TGFBR1_000018 2/13006 2/8600 0/4406
?/? c.343+3522G>A r.(=) p.(=) g.101894904G>A Copied from the Exome Variant Server TGFBR1_000020 18/13006 16/8600 2/4406
?/? c.343+3535G>C r.(=) p.(=) g.101894917G>C Copied from the Exome Variant Server TGFBR1_000021 1/13006 1/8600 0/4406
?/? c.343+3581A>G r.(=) p.(=) g.101894963A>G Copied from the Exome Variant Server TGFBR1_000022 1/13006 1/8600 0/4406
?/? c.343+3593G>A r.(=) p.(=) g.101894975G>A Copied from the Exome Variant Server TGFBR1_000023 1/13006 1/8600 0/4406
?/? c.343+3622C>T r.(=) p.(=) g.101895004C>T Copied from the Exome Variant Server TGFBR1_000024 1/13006 0/8600 1/4406
?/? c.343+3657C>T r.(=) p.(=) g.101895039C>T Copied from the Exome Variant Server TGFBR1_000025 1/13006 1/8600 0/4406
?/? c.343+3689C>T r.(=) p.(=) g.101895071C>T Copied from the Exome Variant Server TGFBR1_000026 35/12976 0/8572 35/4404
?/? c.344-47_344-46del r.(=) p.(=) g.101900094_101900095del Copied from the Exome Variant Server TGFBR1_000027 1/12518 0/8254 1/4264
?/? c.344-37G>T r.(=) p.(=) g.101900104G>T Copied from the Exome Variant Server TGFBR1_000028 2/13006 0/8600 2/4406
?/? c.344-14_344-13insT r.(=) p.(=) g.101900127_101900128insT Copied from the Exome Variant Server TGFBR1_000029 7/12518 7/8254 0/4264
?/? c.375G>A r.(=) p.(=) g.101900172G>A Copied from the Exome Variant Server TGFBR1_000030 1/13006 1/8600 0/4406
?/? c.574+25T>C r.(=) p.(=) g.101900396T>C Copied from the Exome Variant Server TGFBR1_000031 2/13006 0/8600 2/4406
?/? c.574+39A>G r.(=) p.(=) g.101900410A>G Copied from the Exome Variant Server TGFBR1_000032 41/13006 19/8600 22/4406
?/? c.574+40G>T r.(=) p.(=) g.101900411G>T Copied from the Exome Variant Server TGFBR1_000033 1/13006 1/8600 0/4406
?/? c.575-45A>G r.(=) p.(=) g.101904773A>G Copied from the Exome Variant Server TGFBR1_000034 2/13006 0/8600 2/4406
?/? c.575-23G>A r.(=) p.(=) g.101904795G>A Copied from the Exome Variant Server TGFBR1_000035 2/13006 2/8600 0/4406
?/? c.579T>C r.(=) p.(=) g.101904822T>C Copied from the Exome Variant Server TGFBR1_000036 7/13006 1/8600 6/4406
?/? c.630C>T r.(=) p.(=) g.101904873C>T Copied from the Exome Variant Server TGFBR1_000037 1/13006 1/8600 0/4406
?/? c.666G>A r.(=) p.(=) g.101904909G>A Copied from the Exome Variant Server TGFBR1_000038 1/13006 1/8600 0/4406
?/? c.699G>A r.(=) p.(=) g.101904942G>A Copied from the Exome Variant Server TGFBR1_000039 1/13006 0/8600 1/4406
?/? c.742+19C>A r.(=) p.(=) g.101905004C>A Copied from the Exome Variant Server TGFBR1_000040 3/13006 1/8600 2/4406
?/? c.742+19_742+20insT r.(=) p.(=) g.101905004_101905005insT Copied from the Exome Variant Server TGFBR1_000041 1/12518 1/8254 0/4264
?/? c.743-43G>T r.(=) p.(=) g.101906971G>T Copied from the Exome Variant Server TGFBR1_000042 2/13006 0/8600 2/4406
?/? c.743-22T>A r.(=) p.(=) g.101906992T>A Copied from the Exome Variant Server TGFBR1_000043 63/13006 0/8600 63/4406
?/? c.743-17A>T r.(=) p.(=) g.101906997A>T Copied from the Exome Variant Server TGFBR1_000044 1/13006 1/8600 0/4406
?/? c.801T>C r.(=) p.(=) g.101907072T>C Copied from the Exome Variant Server TGFBR1_000045 2/13006 1/8600 1/4406
?/? c.809G>C r.(?) p.(Cys270Ser) g.101907080G>C Copied from the Exome Variant Server TGFBR1_000046 2/13006 0/8600 2/4406
?/? c.879C>T r.(=) p.(=) g.101907150C>T Copied from the Exome Variant Server TGFBR1_000047 1/13006 0/8600 1/4406
?/? c.894A>C r.(=) p.(=) g.101907165A>C Copied from the Exome Variant Server TGFBR1_000048 39/13006 34/8600 5/4406
?/? c.900-25A>G r.(=) p.(=) g.101908742A>G Copied from the Exome Variant Server TGFBR1_000049 2/13006 0/8600 2/4406
?/? c.900-19T>G r.(=) p.(=) g.101908748T>G Copied from the Exome Variant Server TGFBR1_000050 1/13006 1/8600 0/4406
?/? c.921C>T r.(=) p.(=) g.101908788C>T Copied from the Exome Variant Server TGFBR1_000051 45/13006 1/8600 44/4406
?/? c.979A>G r.(?) p.(Met327Val) g.101908846A>G Copied from the Exome Variant Server TGFBR1_000052 1/13006 0/8600 1/4406
?/? c.988G>C r.(?) p.(Val330Leu) g.101908855G>C Copied from the Exome Variant Server TGFBR1_000053 1/13006 1/8600 0/4406
?/? c.1024+24G>A r.(=) p.(=) g.101908915G>A Copied from the Exome Variant Server TGFBR1_000054 2832/13006 1744/8600 1088/4406
?/? c.1024+34A>G r.(=) p.(=) g.101908925A>G Copied from the Exome Variant Server TGFBR1_000055 2/13006 0/8600 2/4406
?/? c.1024+50C>G r.(=) p.(=) g.101908941C>G Copied from the Exome Variant Server TGFBR1_000056 1/13006 1/8600 0/4406
?/? c.1025-50C>A r.(=) p.(=) g.101909886C>A Copied from the Exome Variant Server TGFBR1_000057 1/12996 1/8592 0/4404
?/? c.1025-37A>C r.(=) p.(=) g.101909899A>C Copied from the Exome Variant Server TGFBR1_000058 25/13002 0/8600 25/4402
?/? c.1047G>T r.(=) p.(=) g.101909958G>T Copied from the Exome Variant Server TGFBR1_000059 1/13006 1/8600 0/4406
?/? c.1155+25G>T r.(=) p.(=) g.101910091G>T Copied from the Exome Variant Server TGFBR1_000060 1/13006 1/8600 0/4406
?/? c.1156-25del r.(=) p.(=) g.101911437del Copied from the Exome Variant Server TGFBR1_000063 837/12368 554/8154 283/4214
?/? c.1156-25dup r.(=) p.(=) g.101911437dup Copied from the Exome Variant Server TGFBR1_000061 177/12368 107/8154 70/4214
?/? c.1156-15_1156-14insA r.(=) p.(=) g.101911447_101911448insA Copied from the Exome Variant Server TGFBR1_000065 28/12462 1/8214 27/4248
?/? c.1202A>G r.(?) p.(Asn401Ser) g.101911508A>G Copied from the Exome Variant Server TGFBR1_000066 6/13006 6/8600 0/4406
?/? c.1204G>A r.(?) p.(Gly402Arg) g.101911510G>A Copied from the Exome Variant Server TGFBR1_000067 1/13006 1/8600 0/4406
?/? c.1248G>A r.(=) p.(=) g.101911554G>A Copied from the Exome Variant Server TGFBR1_000062 1/13006 0/8600 1/4406
?/? c.*20C>T r.(=) p.(=) g.101911607C>T Copied from the Exome Variant Server TGFBR1_000064 2/13006 0/8600 2/4406
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