All transcript variants in gene CITED1

Information The variants shown are described using the NM_004143.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-66+1141G>C r.(=) p.(=) g.71525186C>G Copied from the Exome Variant Server CITED1_000024 4/3600 0/2391 4/1209
?/? c.-34C>G r.(=) p.(=) g.71522753G>C Copied from the Exome Variant Server CITED1_000023 2/10563 2/6728 0/3835
?/? c.-33G>A r.(=) p.(=) g.71522752C>T Copied from the Exome Variant Server CITED1_000022 1/10563 1/6728 0/3835
?/? c.11C>T r.(?) p.(Thr4Met) g.71522709G>A Copied from the Exome Variant Server CITED1_000021 1/10563 0/6728 1/3835
?/? c.12G>A r.(=) p.(=) g.71522708C>T Copied from the Exome Variant Server CITED1_000020 3/10563 0/6728 3/3835
?/? c.49C>T r.(?) p.(Pro17Ser) g.71522671G>A Copied from the Exome Variant Server CITED1_000019 1/10563 0/6728 1/3835
?/? c.54G>A r.(=) p.(=) g.71522666C>T Copied from the Exome Variant Server CITED1_000018 1/10562 1/6728 0/3834
?/? c.61-32G>A r.(=) p.(=) g.71522126C>T Copied from the Exome Variant Server CITED1_000017 2516/10548 720/6717 1796/3831
?/? c.93C>T r.(=) p.(=) g.71522062G>A Copied from the Exome Variant Server CITED1_000016 1/10563 1/6728 0/3835
?/? c.105G>A r.(=) p.(=) g.71522050C>T Copied from the Exome Variant Server CITED1_000015 1/10563 0/6728 1/3835
?/? c.172A>G r.(?) p.(Ser58Gly) g.71521983T>C Copied from the Exome Variant Server CITED1_000014 3/10556 0/6724 3/3832
?/? c.194C>T r.(?) p.(Ser65Leu) g.71521961G>A Copied from the Exome Variant Server CITED1_000013 17/10545 0/6719 17/3826
?/? c.195G>A r.(=) p.(=) g.71521960C>T Copied from the Exome Variant Server CITED1_000012 12/10545 11/6719 1/3826
?/? c.288C>G r.(?) p.(His96Gln) g.71521867G>C Copied from the Exome Variant Server CITED1_000011 9647/10558 5914/6726 3733/3832
?/? c.354A>C r.(=) p.(=) g.71521801T>G Copied from the Exome Variant Server CITED1_000010 11/10563 10/6728 1/3835
?/? c.355G>C r.(?) p.(Gly119Arg) g.71521800C>G Copied from the Exome Variant Server CITED1_000009 11/10563 10/6728 1/3835
?/? c.357A>G r.(=) p.(=) g.71521798T>C Copied from the Exome Variant Server CITED1_000008 1011/10563 8/6728 1003/3835
?/? c.439A>G r.(?) p.(Ile147Val) g.71521716T>C Copied from the Exome Variant Server CITED1_000007 2/10563 0/6728 2/3835
?/? c.450G>A r.(=) p.(=) g.71521705C>T Copied from the Exome Variant Server CITED1_000006 1/10563 1/6728 0/3835
?/? c.486G>A r.(=) p.(=) g.71521669C>T Copied from the Exome Variant Server CITED1_000005 23/10563 0/6728 23/3835
?/? c.522G>A r.(=) p.(=) g.71521633C>T Copied from the Exome Variant Server CITED1_000004 13/10563 12/6728 1/3835
?/? c.557C>T r.(?) p.(Thr186Ile) g.71521598G>A Copied from the Exome Variant Server CITED1_000003 8/10563 8/6728 0/3835
?/? c.565T>C r.(?) p.(Phe189Leu) g.71521590A>G Copied from the Exome Variant Server CITED1_000002 1/10563 1/6728 0/3835
?/? c.*25G>A r.(=) p.(=) g.71521548C>T Copied from the Exome Variant Server CITED1_000001 13/10563 1/6728 12/3835
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