Full data view for gene TIMP1

Information The variants shown are described using the NM_003254.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-9+92C>T r.(=) p.(=) g.47441965C>T Copied from the Exome Variant Server TIMP1_000001 2/4499 0/3088 2/1411 - - - - - - -
?/? c.-9+99A>G r.(=) p.(=) g.47441972A>G Copied from the Exome Variant Server TIMP1_000003 5/4505 4/3093 1/1412 - - - - - - -
?/? c.22G>A r.(?) p.(Ala8Thr) g.47442836G>A Copied from the Exome Variant Server TIMP1_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.82C>G r.(?) p.(Pro28Ala) g.47442896C>G Copied from the Exome Variant Server TIMP1_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.121+10C>T r.(=) p.(=) g.47442945C>T Copied from the Exome Variant Server TIMP1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.121+12C>T r.(=) p.(=) g.47442947C>T Copied from the Exome Variant Server TIMP1_000002 10/10563 0/6728 10/3835 - - - - - - -
?/? c.122-41C>T r.(=) p.(=) g.47444294C>T Copied from the Exome Variant Server TIMP1_000004 3/10563 3/6728 0/3835 - - - - - - -
?/? c.139G>A r.(?) p.(Val47Met) g.47444352G>A Copied from the Exome Variant Server TIMP1_000006 2/10563 0/6728 2/3835 - - - - - - -
?/? c.148C>T r.(?) p.(Pro50Ser) g.47444361C>T Copied from the Exome Variant Server TIMP1_000008 9/10563 5/6728 4/3835 - - - - - - -
?/? c.153A>C r.(?) p.(Glu51Asp) g.47444366A>C Copied from the Exome Variant Server TIMP1_000010 2/10563 0/6728 2/3835 - - - - - - -
?/? c.195G>T r.(?) p.(Met65Ile) g.47444408G>T Copied from the Exome Variant Server TIMP1_000011 4/10563 4/6728 0/3835 - - - - - - -
?/? c.201+50T>C r.(=) p.(=) g.47444464T>C Copied from the Exome Variant Server TIMP1_000012 1/10561 1/6727 0/3834 - - - - - - -
?/? c.261C>T r.(=) p.(=) g.47444663C>T Copied from the Exome Variant Server TIMP1_000013 169/10563 159/6728 10/3835 - - - - - - -
?/? c.276C>G r.(=) p.(=) g.47444678C>G Copied from the Exome Variant Server TIMP1_000014 5/10563 0/6728 5/3835 - - - - - - -
?/? c.305G>A r.(?) p.(Arg102His) g.47444707G>A Copied from the Exome Variant Server TIMP1_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.328+16C>T r.(=) p.(=) g.47444746C>T Copied from the Exome Variant Server TIMP1_000016 16/10563 14/6728 2/3835 - - - - - - -
?/? c.328+51C>T r.(=) p.(=) g.47444781C>T Copied from the Exome Variant Server TIMP1_000017 2/10557 2/6724 0/3833 - - - - - - -
?/? c.329-32C>T r.(=) p.(=) g.47444910C>T Copied from the Exome Variant Server TIMP1_000018 1/10559 0/6725 1/3834 - - - - - - -
?/? c.329-19G>A r.(=) p.(=) g.47444923G>A Copied from the Exome Variant Server TIMP1_000019 31/10560 10/6725 21/3835 - - - - - - -
?/? c.329-4T>A r.spl? p.? g.47444938T>A Copied from the Exome Variant Server TIMP1_000020 4/10563 4/6728 0/3835 - - - - - - -
?/? c.372T>C r.(=) p.(=) g.47444985T>C Copied from the Exome Variant Server TIMP1_000021 4892/10563 3078/6728 1814/3835 - - - - - - -
?/? c.453+20C>T r.(=) p.(=) g.47445086C>T Copied from the Exome Variant Server TIMP1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.453+25A>G r.(=) p.(=) g.47445091A>G Copied from the Exome Variant Server TIMP1_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.453+50T>C r.(=) p.(=) g.47445116T>C Copied from the Exome Variant Server TIMP1_000024 2/10561 0/6726 2/3835 - - - - - - -
?/? c.453+52C>T r.(=) p.(=) g.47445118C>T Copied from the Exome Variant Server TIMP1_000025 1/6038 1/3621 0/2417 - - - - - - -
?/? c.454-49G>A r.(=) p.(=) g.47445871G>A Copied from the Exome Variant Server TIMP1_000026 2/10563 0/6728 2/3835 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.47445940C>T Copied from the Exome Variant Server TIMP1_000027 88/10563 61/6728 27/3835 - - - - - - -
?/? c.509G>A r.(?) p.(Trp170*) g.47445975G>A Copied from the Exome Variant Server TIMP1_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.512C>T r.(?) p.(Thr171Met) g.47445978C>T Copied from the Exome Variant Server TIMP1_000029 3/10563 3/6728 0/3835 - - - - - - -
?/? c.554G>A r.(?) p.(Arg185His) g.47446020G>A Copied from the Exome Variant Server TIMP1_000030 2/10563 1/6728 1/3835 - - - - - - -
?/? c.575G>A r.(?) p.(Arg192Gln) g.47446041G>A Copied from the Exome Variant Server TIMP1_000031 22/10563 19/6728 3/3835 - - - - - - -
?/? c.607C>T r.(?) p.(Arg203Trp) g.47446073C>T Copied from the Exome Variant Server TIMP1_000032 3/10563 3/6728 0/3835 - - - - - - -
?/? c.609G>A r.(=) p.(=) g.47446075G>A Copied from the Exome Variant Server TIMP1_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*9C>T r.(=) p.(=) g.47446099C>T Copied from the Exome Variant Server TIMP1_000034 2/10563 1/6728 1/3835 - - - - - - -
?/? c.*10G>A r.(=) p.(=) g.47446100G>A Copied from the Exome Variant Server TIMP1_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*35T>C r.(=) p.(=) g.47446125T>C Copied from the Exome Variant Server TIMP1_000036 11/10563 9/6728 2/3835 - - - - - - -
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