All transcript variants in gene F9

Information The variants shown are described using the NM_000133.3 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-15C>G r.(=) p.(=) g.138612909C>G Copied from the Exome Variant Server F9_000054 1/10563 0/6728 1/3835
?/? c.8G>A r.(?) p.(Arg3His) g.138612931G>A Copied from the Exome Variant Server F9_000055 6/10563 1/6728 5/3835
?/? c.19A>T r.(?) p.(Ile7Phe) g.138612942A>T Copied from the Exome Variant Server F9_000056 10/10563 9/6728 1/3835
?/? c.88+27G>A r.(=) p.(=) g.138613038G>A Copied from the Exome Variant Server F9_000053 21/10563 0/6728 21/3835
?/? c.88+29G>C r.(=) p.(=) g.138613040G>C Copied from the Exome Variant Server F9_000043 1/10563 1/6728 0/3835
?/? c.88+46A>G r.(=) p.(=) g.138613057A>G Copied from the Exome Variant Server F9_000044 2/10562 2/6728 0/3834
?/? c.89-26_89-25insG r.(=) p.(=) g.138619143_138619144insG Copied from the Exome Variant Server F9_000045 13/9913 8/6364 5/3549
?/? c.109G>A r.(?) p.(Ala37Thr) g.138619189G>A Copied from the Exome Variant Server F9_000046 1/10542 1/6717 0/3825
?/? c.122T>G r.(?) p.(Leu41Arg) g.138619202T>G Copied from the Exome Variant Server F9_000047 1/10545 0/6718 1/3827
?/? c.177C>A r.(?) p.(Asn59Lys) g.138619257C>A Copied from the Exome Variant Server F9_000048 1/10560 0/6725 1/3835
?/? c.250A>G r.(?) p.(Thr84Ala) g.138619330A>G Copied from the Exome Variant Server F9_000049 1/10563 1/6728 0/3835
?/? c.252+44T>C r.(=) p.(=) g.138619376T>C Copied from the Exome Variant Server F9_000050 17/10543 0/6721 17/3822
?/? c.253-29G>A r.(=) p.(=) g.138619492G>A Copied from the Exome Variant Server F9_000051 1/10527 0/6702 1/3825
?/? c.253-21G>A r.(=) p.(=) g.138619500G>A Copied from the Exome Variant Server F9_000052 1/10534 0/6707 1/3827
?/? c.273T>C r.(=) p.(=) g.138619541T>C Copied from the Exome Variant Server F9_000033 1/10552 1/6720 0/3832
?/? c.277+32T>C r.(=) p.(=) g.138619577T>C Copied from the Exome Variant Server F9_000034 2/10539 0/6715 2/3824
?/? c.278-33C>T r.(=) p.(=) g.138623202C>T Copied from the Exome Variant Server F9_000035 2/10563 0/6728 2/3835
?/? c.278-32G>A r.(=) p.(=) g.138623203G>A Copied from the Exome Variant Server F9_000036 1/10563 1/6728 0/3835
?/? c.278-27A>G r.(=) p.(=) g.138623208A>G Copied from the Exome Variant Server F9_000037 165/10563 1/6728 164/3835
?/? c.316G>A r.(?) p.(Gly106Ser) g.138623273G>A Copied from the Exome Variant Server F9_000038 1/10563 1/6728 0/3835
?/? c.320G>C r.(?) p.(Ser107Thr) g.138623277G>C Copied from the Exome Variant Server F9_000039 1/10563 0/6728 1/3835
?/? c.333C>T r.(=) p.(=) g.138623290C>T Copied from the Exome Variant Server F9_000040 1/10563 1/6728 0/3835
?/? c.391+7A>G r.(=) p.(=) g.138623355A>G Copied from the Exome Variant Server F9_000041 518/10563 4/6728 514/3835
?/? c.391+10T>G r.(=) p.(=) g.138623358T>G Copied from the Exome Variant Server F9_000042 18/10563 17/6728 1/3835
?/? c.391+36G>T r.(=) p.(=) g.138623384G>T Copied from the Exome Variant Server F9_000027 1/10563 0/6728 1/3835
?/? c.391+42C>T r.(=) p.(=) g.138623390C>T Copied from the Exome Variant Server F9_000028 16/10562 1/6727 15/3835
?/? c.423C>T r.(=) p.(=) g.138630553C>T Copied from the Exome Variant Server F9_000029 1/10563 1/6728 0/3835
?/? c.459G>A r.(=) p.(=) g.138630589G>A Copied from the Exome Variant Server F9_000030 1/10563 1/6728 0/3835
?/? c.465C>T r.(=) p.(=) g.138630595C>T Copied from the Exome Variant Server F9_000031 1/10563 1/6728 0/3835
?/? c.520+19T>C r.(=) p.(=) g.138630669T>C Copied from the Exome Variant Server F9_000032 1/10563 1/6728 0/3835
?/? c.521-50A>G r.(=) p.(=) g.138633171A>G Copied from the Exome Variant Server F9_000006 1/10562 0/6727 1/3835
?/? c.571C>T r.(?) p.(Arg191Cys) g.138633271C>T Copied from the Exome Variant Server F9_000007 1/10563 1/6728 0/3835
?/? c.580A>G r.(?) p.(Thr194Ala) g.138633280A>G Copied from the Exome Variant Server F9_000008 2481/10563 2007/6728 474/3835
?/? c.584T>G r.(?) p.(Val195Gly) g.138633284T>G Copied from the Exome Variant Server F9_000009 1/10563 0/6728 1/3835
?/? c.674C>T r.(?) p.(Thr225Ile) g.138633374C>T Copied from the Exome Variant Server F9_000010 1/10563 0/6728 1/3835
?/? c.696T>C r.(=) p.(=) g.138633396T>C Copied from the Exome Variant Server F9_000011 19/10563 0/6728 19/3835
?/? c.712T>G r.(?) p.(Phe238Val) g.138633412T>G Copied from the Exome Variant Server F9_000012 1/10563 1/6728 0/3835
?/? c.723+15T>C r.(=) p.(=) g.138633438T>C Copied from the Exome Variant Server F9_000013 1/10563 0/6728 1/3835
?/? c.723+51A>G r.(=) p.(=) g.138633474A>G Copied from the Exome Variant Server F9_000014 16/10563 16/6728 0/3835
?/? c.724-37G>A r.(=) p.(=) g.138642863G>A Copied from the Exome Variant Server F9_000015 1/10563 1/6728 0/3835
?/? c.808G>A r.(?) p.(Glu270Lys) g.138642984G>A Copied from the Exome Variant Server F9_000016 1/10563 1/6728 0/3835
?/? c.819T>C r.(=) p.(=) g.138642995T>C Copied from the Exome Variant Server F9_000017 13/10563 11/6728 2/3835
?/? c.838+4A>G r.spl? p.? g.138643018A>G Copied from the Exome Variant Server F9_000018 1/10563 1/6728 0/3835
?/? c.838+18A>G r.(=) p.(=) g.138643032A>G Copied from the Exome Variant Server F9_000019 1/10563 0/6728 1/3835
?/? c.839-24_839-23insA r.(=) p.(=) g.138643659_138643660insA Copied from the Exome Variant Server F9_000020 110/10203 106/6482 4/3721
?/? c.904C>T r.(?) p.(His302Tyr) g.138643748C>T Copied from the Exome Variant Server F9_000021 1/10562 1/6727 0/3835
?/? c.907C>T r.(?) p.(His303Tyr) g.138643751C>T Copied from the Exome Variant Server F9_000022 5/10562 4/6727 1/3835
?/? c.966C>T r.(=) p.(=) g.138643810C>T Copied from the Exome Variant Server F9_000023 1/10563 1/6728 0/3835
?/? c.967G>A r.(?) p.(Glu323Lys) g.138643811G>A Copied from the Exome Variant Server F9_000024 30/10563 0/6728 30/3835
?/? c.1029C>T r.(=) p.(=) g.138643873C>T Copied from the Exome Variant Server F9_000025 4/10563 4/6728 0/3835
?/? c.1095A>G r.(=) p.(=) g.138643939A>G Copied from the Exome Variant Server F9_000026 128/10563 1/6728 127/3835
?/? c.1110G>A r.(=) p.(=) g.138643954G>A Copied from the Exome Variant Server F9_000001 128/10563 3/6728 125/3835
?/? c.1154C>G r.(?) p.(Ser385Cys) g.138643998C>G Copied from the Exome Variant Server F9_000002 1/10563 1/6728 0/3835
?/? c.1257G>T r.(=) p.(=) g.138644101G>T Copied from the Exome Variant Server F9_000003 12/10563 0/6728 12/3835
?/? c.1346G>A r.(?) p.(Arg449Gln) g.138644190G>A Copied from the Exome Variant Server F9_000004 2/10563 0/6728 2/3835
?/? c.1381A>C r.(?) p.(Thr461Pro) g.138644225A>C Copied from the Exome Variant Server F9_000005 9/10554 0/6725 9/3829
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