All transcript variants in gene FHL3

Information The variants shown are described using the NM_004468.4 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-20-30G>T r.(=) p.(=) g.38465134C>A Copied from the Exome Variant Server FHL3_000054 1/13006 0/8600 1/4406
?/? c.-20-7C>A r.(=) p.(=) g.38465111G>T Copied from the Exome Variant Server FHL3_000053 1/13006 1/8600 0/4406
?/? c.-13T>C r.(=) p.(=) g.38465097A>G Copied from the Exome Variant Server FHL3_000052 45/13006 43/8600 2/4406
?/? c.153G>A r.(=) p.(=) g.38464932C>T Copied from the Exome Variant Server FHL3_000051 7/13006 0/8600 7/4406
?/? c.157-31G>C r.(=) p.(=) g.38464851C>G Copied from the Exome Variant Server FHL3_000050 1/13006 1/8600 0/4406
?/? c.167A>G r.(?) p.(Tyr56Cys) g.38464810T>C Copied from the Exome Variant Server FHL3_000049 1/13006 1/8600 0/4406
?/? c.186C>T r.(=) p.(=) g.38464791G>A Copied from the Exome Variant Server FHL3_000048 1/13006 1/8600 0/4406
?/? c.197T>G r.(?) p.(Phe66Cys) g.38464780A>C Copied from the Exome Variant Server FHL3_000047 1/13006 1/8600 0/4406
?/? c.217C>T r.(?) p.(Arg73Cys) g.38464760G>A Copied from the Exome Variant Server FHL3_000046 1/13006 0/8600 1/4406
?/? c.218G>A r.(?) p.(Arg73His) g.38464759C>T Copied from the Exome Variant Server FHL3_000045 2/13006 0/8600 2/4406
?/? c.287C>T r.(?) p.(Ala96Val) g.38464690G>A Copied from the Exome Variant Server FHL3_000044 14/13006 10/8600 4/4406
?/? c.296C>T r.(?) p.(Ser99Leu) g.38464681G>A Copied from the Exome Variant Server FHL3_000043 1/13006 0/8600 1/4406
?/? c.297G>A r.(=) p.(=) g.38464680C>T Copied from the Exome Variant Server FHL3_000042 3/13006 2/8600 1/4406
?/? c.299A>G r.(?) p.(Gln100Arg) g.38464678T>C Copied from the Exome Variant Server FHL3_000041 2/13006 0/8600 2/4406
?/? c.302G>A r.(?) p.(Cys101Tyr) g.38464675C>T Copied from the Exome Variant Server FHL3_000040 1/13006 1/8600 0/4406
?/? c.307G>A r.(?) p.(Ala103Thr) g.38464670C>T Copied from the Exome Variant Server FHL3_000039 230/13006 0/8600 230/4406
?/? c.309T>C r.(=) p.(=) g.38464668A>G Copied from the Exome Variant Server FHL3_000038 4/13006 0/8600 4/4406
?/? c.331+7G>C r.(=) p.(=) g.38464639C>G Copied from the Exome Variant Server FHL3_000037 12983/13006 8600/8600 4383/4406
?/? c.332-42G>A r.(=) p.(=) g.38463846C>T Copied from the Exome Variant Server FHL3_000036 2/13006 0/8600 2/4406
?/? c.332-33A>G r.(=) p.(=) g.38463837T>C Copied from the Exome Variant Server FHL3_000035 2/13006 0/8600 2/4406
?/? c.362C>T r.(?) p.(Thr121Ile) g.38463774G>A Copied from the Exome Variant Server FHL3_000034 1/13006 1/8600 0/4406
?/? c.390T>C r.(=) p.(=) g.38463746A>G Copied from the Exome Variant Server FHL3_000033 1/13004 1/8600 0/4404
?/? c.429C>T r.(=) p.(=) g.38463707G>A Copied from the Exome Variant Server FHL3_000032 1/13006 1/8600 0/4406
?/? c.444C>T r.(=) p.(=) g.38463692G>A Copied from the Exome Variant Server FHL3_000031 1/13006 0/8600 1/4406
?/? c.482G>A r.(?) p.(Arg161His) g.38463654C>T Copied from the Exome Variant Server FHL3_000030 1/13006 1/8600 0/4406
?/? c.486C>T r.(=) p.(=) g.38463650G>A Copied from the Exome Variant Server FHL3_000029 1/13006 0/8600 1/4406
?/? c.487G>A r.(?) p.(Ala163Thr) g.38463649C>T Copied from the Exome Variant Server FHL3_000028 1/13006 0/8600 1/4406
?/? c.491G>A r.(?) p.(Arg164His) g.38463645C>T Copied from the Exome Variant Server FHL3_000027 1/13006 1/8600 0/4406
?/? c.501+32_501+35del r.(=) p.(=) g.38463600_38463603del Copied from the Exome Variant Server FHL3_000026 12/12518 10/8252 2/4266
?/? c.502-44T>C r.(=) p.(=) g.38463586A>G Copied from the Exome Variant Server FHL3_000025 55/13006 52/8600 3/4406
?/? c.502-30C>T r.(=) p.(=) g.38463572G>A Copied from the Exome Variant Server FHL3_000024 2/13006 2/8600 0/4406
?/? c.503C>T r.(?) p.(Thr168Met) g.38463541G>A Copied from the Exome Variant Server FHL3_000023 2/13006 2/8600 0/4406
?/? c.504G>A r.(=) p.(=) g.38463540C>T Copied from the Exome Variant Server FHL3_000022 1/13006 1/8600 0/4406
?/? c.507G>A r.(=) p.(=) g.38463537C>T Copied from the Exome Variant Server FHL3_000021 1/13006 0/8600 1/4406
?/? c.519A>G r.(=) p.(=) g.38463525T>C Copied from the Exome Variant Server FHL3_000019 1/13006 0/8600 1/4406
?/? c.530G>A r.(?) p.(Arg177His) g.38463514C>T Copied from the Exome Variant Server FHL3_000017 1/13006 1/8600 0/4406
?/? c.537G>T r.(?) p.(Gln179His) g.38463507C>A Copied from the Exome Variant Server FHL3_000015 1/13006 1/8600 0/4406
?/? c.540G>A r.(=) p.(=) g.38463504C>T Copied from the Exome Variant Server FHL3_000013 6470/13006 3598/8600 2872/4406
?/? c.567C>T r.(=) p.(=) g.38463477G>A Copied from the Exome Variant Server FHL3_000012 10/13006 3/8600 7/4406
?/? c.568G>A r.(?) p.(Gly190Arg) g.38463476C>T Copied from the Exome Variant Server FHL3_000010 2/13006 0/8600 2/4406
?/? c.589G>A r.(?) p.(Gly197Arg) g.38463455C>T Copied from the Exome Variant Server FHL3_000008 1/13006 1/8600 0/4406
?/? c.634T>A r.(?) p.(Cys212Ser) g.38463410A>T Copied from the Exome Variant Server FHL3_000006 1/13006 1/8600 0/4406
?/? c.677G>A r.(?) p.(Arg226His) g.38463367C>T Copied from the Exome Variant Server FHL3_000004 1/13006 1/8600 0/4406
?/? c.685G>A r.(?) p.(Val229Ile) g.38463359C>T Copied from the Exome Variant Server FHL3_000003 1/13006 0/8600 1/4406
?/? c.688+3G>T r.spl? p.? g.38463353C>A Copied from the Exome Variant Server FHL3_000002 10/13006 10/8600 0/4406
?/? c.688+10G>C r.(=) p.(=) g.38463346C>G Copied from the Exome Variant Server FHL3_000001 1/13006 0/8600 1/4406
?/? c.694G>A r.(?) p.(Gly232Ser) g.38463226C>T Copied from the Exome Variant Server FHL3_000020 26/13006 23/8600 3/4406
?/? c.754G>A r.(?) p.(Ala252Thr) g.38463166C>T Copied from the Exome Variant Server FHL3_000018 1/13006 0/8600 1/4406
?/? c.758G>A r.(?) p.(Arg253His) g.38463162C>T Copied from the Exome Variant Server FHL3_000016 1/13006 0/8600 1/4406
?/? c.772C>G r.(?) p.(Leu258Val) g.38463148G>C Copied from the Exome Variant Server FHL3_000014 24/13006 24/8600 0/4406
?/? c.790G>A r.(?) p.(Val264Ile) g.38463130C>T Copied from the Exome Variant Server FHL3_000011 1/13006 0/8600 1/4406
?/? c.840C>T r.(=) p.(=) g.38463080G>A Copied from the Exome Variant Server FHL3_000009 1/13006 0/8600 1/4406
?/? c.*12T>C r.(=) p.(=) g.38463065A>G Copied from the Exome Variant Server FHL3_000007 2/13006 0/8600 2/4406
?/? c.*20_*34del r.(=) p.(=) g.38463043_38463057del Copied from the Exome Variant Server FHL3_000005 244/12520 5/8254 239/4266
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