Full data view for gene FTSJ1

Information The variants shown are described using the NM_012280.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-47C>T r.(=) p.(=) g.48336389C>T Copied from the Exome Variant Server FTSJ1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.121+20G>T r.(=) p.(=) g.48336576G>T Copied from the Exome Variant Server FTSJ1_000001 9/10561 9/6726 0/3835 - - - - - - -
?/? c.121+26G>A r.(=) p.(=) g.48336582G>A Copied from the Exome Variant Server FTSJ1_000002 2/10560 0/6726 2/3834 - - - - - - -
?/? c.121+30G>A r.(=) p.(=) g.48336586G>A Copied from the Exome Variant Server FTSJ1_000003 30/10560 0/6726 30/3834 - - - - - - -
?/? c.190G>A r.(?) p.(Gly64Arg) g.48336905G>A Copied from the Exome Variant Server FTSJ1_000004 6/10555 0/6721 6/3834 - - - - - - -
?/? c.191+28C>G r.(=) p.(=) g.48336934C>G Copied from the Exome Variant Server FTSJ1_000005 1/10556 1/6723 0/3833 - - - - - - -
?/? c.191+39C>T r.(=) p.(=) g.48336945C>T Copied from the Exome Variant Server FTSJ1_000006 19/10556 0/6722 19/3834 - - - - - - -
?/? c.192-40G>A r.(=) p.(=) g.48336965G>A Copied from the Exome Variant Server FTSJ1_000008 227/10558 4/6725 223/3833 - - - - - - -
?/? c.192-34G>A r.(=) p.(=) g.48336971G>A Copied from the Exome Variant Server FTSJ1_000009 1/10559 1/6725 0/3834 - - - - - - -
?/? c.195C>A r.(=) p.(=) g.48337008C>A Copied from the Exome Variant Server FTSJ1_000010 1/10561 0/6726 1/3835 - - - - - - -
?/? c.204C>T r.(=) p.(=) g.48337017C>T Copied from the Exome Variant Server FTSJ1_000011 1/10561 1/6726 0/3835 - - - - - - -
?/? c.219T>C r.(=) p.(=) g.48337032T>C Copied from the Exome Variant Server FTSJ1_000012 1/10561 0/6726 1/3835 - - - - - - -
?/? c.270G>T r.(=) p.(=) g.48337083G>T Copied from the Exome Variant Server FTSJ1_000013 31/10563 4/6728 27/3835 - - - - - - -
?/? c.283-31G>A r.(=) p.(=) g.48337395G>A Copied from the Exome Variant Server FTSJ1_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.283-27G>A r.(=) p.(=) g.48337399G>A Copied from the Exome Variant Server FTSJ1_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.303C>T r.(=) p.(=) g.48337446C>T Copied from the Exome Variant Server FTSJ1_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.304A>T r.(?) p.(Ile102Phe) g.48337447A>T Copied from the Exome Variant Server FTSJ1_000017 17/10563 0/6728 17/3835 - - - - - - -
?/? c.307C>G r.(?) p.(Gln103Glu) g.48337450C>G Copied from the Exome Variant Server FTSJ1_000018 74/10563 2/6728 72/3835 - - - - - - -
?/? c.310C>T r.(?) p.(His104Tyr) g.48337453C>T Copied from the Exome Variant Server FTSJ1_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.362-35A>C r.(=) p.(=) g.48339504A>C Copied from the Exome Variant Server FTSJ1_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.362-20C>T r.(=) p.(=) g.48339519C>T Copied from the Exome Variant Server FTSJ1_000021 8/10563 6/6728 2/3835 - - - - - - -
?/? c.380T>C r.(?) p.(Val127Ala) g.48339557T>C Copied from the Exome Variant Server FTSJ1_000022 2/10563 2/6728 0/3835 - - - - - - -
?/? c.409C>T r.(=) p.(=) g.48339586C>T Copied from the Exome Variant Server FTSJ1_000023 20/10563 0/6728 20/3835 - - - - - - -
?/? c.415-17G>A r.(=) p.(=) g.48339660G>A Copied from the Exome Variant Server FTSJ1_000024 126/10562 115/6727 11/3835 - - - - - - -
?/? c.459T>G r.(?) p.(Phe153Leu) g.48339721T>G Copied from the Exome Variant Server FTSJ1_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.461T>C r.(?) p.(Val154Ala) g.48339723T>C Copied from the Exome Variant Server FTSJ1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.469-37C>T r.(=) p.(=) g.48339777C>T Copied from the Exome Variant Server FTSJ1_000027 2/10563 0/6728 2/3835 - - - - - - -
?/? c.469-15C>T r.(=) p.(=) g.48339799C>T Copied from the Exome Variant Server FTSJ1_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.479G>A r.(?) p.(Gly160Asp) g.48339824G>A Copied from the Exome Variant Server FTSJ1_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.495C>T r.(=) p.(=) g.48339840C>T Copied from the Exome Variant Server FTSJ1_000030 226/10563 3/6728 223/3835 - - - - - - -
?/? c.506A>G r.(?) p.(Gln169Arg) g.48339851A>G Copied from the Exome Variant Server FTSJ1_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.510G>A r.(=) p.(=) g.48339855G>A Copied from the Exome Variant Server FTSJ1_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.571+48G>T r.(=) p.(=) g.48339964G>T Copied from the Exome Variant Server FTSJ1_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.572-40G>A r.(=) p.(=) g.48339980G>A Copied from the Exome Variant Server FTSJ1_000034 478/10563 1/6728 477/3835 - - - - - - -
?/? c.572-35C>T r.(=) p.(=) g.48339985C>T Copied from the Exome Variant Server FTSJ1_000035 2262/10563 1321/6728 941/3835 - - - - - - -
?/? c.572-34G>A r.(=) p.(=) g.48339986G>A Copied from the Exome Variant Server FTSJ1_000036 5/10563 0/6728 5/3835 - - - - - - -
?/? c.572-32C>T r.(=) p.(=) g.48339988C>T Copied from the Exome Variant Server FTSJ1_000037 3/10563 0/6728 3/3835 - - - - - - -
?/? c.572-8C>T r.(=) p.(=) g.48340012C>T Copied from the Exome Variant Server FTSJ1_000038 352/10563 1/6728 351/3835 - - - - - - -
?/? c.580G>A r.(?) p.(Ala194Thr) g.48340028G>A Copied from the Exome Variant Server FTSJ1_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.607G>A r.(?) p.(Glu203Lys) g.48340055G>A Copied from the Exome Variant Server FTSJ1_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.48340102C>T Copied from the Exome Variant Server FTSJ1_000041 16/10563 0/6728 16/3835 - - - - - - -
?/? c.655+40A>C r.(=) p.(=) g.48340143A>C Copied from the Exome Variant Server FTSJ1_000042 4/10560 3/6728 1/3832 - - - - - - -
?/? c.695T>C r.(?) p.(Ile232Thr) g.48340830T>C Copied from the Exome Variant Server FTSJ1_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.738G>A r.(=) p.(=) g.48340873G>A Copied from the Exome Variant Server FTSJ1_000044 16/10563 16/6728 0/3835 - - - - - - -
?/? c.741C>T r.(=) p.(=) g.48340876C>T Copied from the Exome Variant Server FTSJ1_000045 1/10563 0/6728 1/3835 - - - - - - -
?/? c.762A>G r.(=) p.(=) g.48340987A>G Copied from the Exome Variant Server FTSJ1_000046 2/10561 2/6728 0/3833 - - - - - - -
?/? c.768C>T r.(=) p.(=) g.48340993C>T Copied from the Exome Variant Server FTSJ1_000047 1/10560 0/6728 1/3832 - - - - - - -
?/? c.777G>A r.(=) p.(=) g.48341002G>A Copied from the Exome Variant Server FTSJ1_000048 1/10560 0/6728 1/3832 - - - - - - -
?/? c.837G>A r.(=) p.(=) g.48341062G>A Copied from the Exome Variant Server FTSJ1_000049 2/10558 2/6727 0/3831 - - - - - - -
?/? c.872G>A r.(?) p.(Arg291His) g.48341097G>A Copied from the Exome Variant Server FTSJ1_000050 2/10556 2/6727 0/3829 - - - - - - -
?/? c.893G>A r.(?) p.(Ser298Asn) g.48341118G>A Copied from the Exome Variant Server FTSJ1_000051 4/10560 4/6728 0/3832 - - - - - - -
?/? c.927C>T r.(=) p.(=) g.48341152C>T Copied from the Exome Variant Server FTSJ1_000052 1/10560 1/6728 0/3832 - - - - - - -
?/? c.931C>G r.(?) p.(Gln311Glu) g.48341156C>G Copied from the Exome Variant Server FTSJ1_000053 1/10560 1/6728 0/3832 - - - - - - -
?/? c.957+42G>A r.(=) p.(=) g.48341224G>A Copied from the Exome Variant Server FTSJ1_000054 1/10557 0/6726 1/3831 - - - - - - -
?/? c.958-38C>T r.(=) p.(=) g.48341336C>T Copied from the Exome Variant Server FTSJ1_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*8C>T r.(=) p.(=) g.48341414C>T Copied from the Exome Variant Server FTSJ1_000056 10/10563 7/6728 3/3835 - - - - - - -
?/? c.*9+19C>T r.(=) p.(=) g.48341434C>T Copied from the Exome Variant Server FTSJ1_000057 7/10563 7/6728 0/3835 - - - - - - -
?/? c.*9+47T>C r.(=) p.(=) g.48341462T>C Copied from the Exome Variant Server FTSJ1_000058 194/3600 0/2391 194/1209 - - - - - - -
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