All transcript variants in gene SHOX

Information The variants shown are described using the NM_000451.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-48A>T r.(=) p.(=) g.591585A>T Copied from the Exome Variant Server SHOX_000001 1/12950 1/8568 0/4382
?/? c.-19G>C r.(=) p.(=) g.591614G>C Copied from the Exome Variant Server SHOX_000002 24/12996 0/8590 24/4406
?/? c.-10del r.(=) p.(=) g.591623del Copied from the Exome Variant Server SHOX_000003 5/12490 5/8236 0/4254
?/? c.36T>C r.(=) p.(=) g.591668T>C Copied from the Exome Variant Server SHOX_000004 1/12998 1/8592 0/4406
?/? c.54C>T r.(=) p.(=) g.591686C>T Copied from the Exome Variant Server SHOX_000005 1/12998 0/8592 1/4406
?/? c.63C>T r.(=) p.(=) g.591695C>T Copied from the Exome Variant Server SHOX_000006 60/12998 53/8592 7/4406
?/? c.86A>C r.(?) p.(Lys29Thr) g.591718A>C Copied from the Exome Variant Server SHOX_000007 9/12998 9/8592 0/4406
?/? c.120G>A r.(=) p.(=) g.591752G>A Copied from the Exome Variant Server SHOX_000008 12/12998 0/8592 12/4406
?/? c.123C>T r.(=) p.(=) g.591755C>T Copied from the Exome Variant Server SHOX_000009 1/12998 0/8592 1/4406
?/? c.170A>G r.(?) p.(Gln57Arg) g.591802A>G Copied from the Exome Variant Server SHOX_000010 3/12998 0/8592 3/4406
?/? c.187G>A r.(?) p.(Gly63Ser) g.591819G>A Copied from the Exome Variant Server SHOX_000011 1/12998 1/8592 0/4406
?/? c.190G>C r.(?) p.(Gly64Arg) g.591822G>C Copied from the Exome Variant Server SHOX_000012 1/12998 1/8592 0/4406
?/? c.211T>C r.(?) p.(Phe71Leu) g.591843T>C Copied from the Exome Variant Server SHOX_000013 1/12998 0/8592 1/4406
?/? c.261C>G r.(=) p.(=) g.591893C>G Copied from the Exome Variant Server SHOX_000014 1/12998 0/8592 1/4406
?/? c.277+17T>G r.(=) p.(=) g.591926T>G Copied from the Exome Variant Server SHOX_000015 12551/12976 8329/8572 4222/4404
?/? c.277+32G>T r.(=) p.(=) g.591941G>T Copied from the Exome Variant Server SHOX_000016 244/12936 5/8542 239/4394
?/? c.277+47G>T r.(=) p.(=) g.591956G>T Copied from the Exome Variant Server SHOX_000017 2/12874 0/8502 2/4372
?/? c.277+49C>A r.(=) p.(=) g.591958C>A Copied from the Exome Variant Server SHOX_000018 3/12870 0/8498 3/4372
?/? c.278-47G>A r.(=) p.(=) g.595306G>A Copied from the Exome Variant Server SHOX_000019 1/12990 1/8586 0/4404
?/? c.278-40C>T r.(=) p.(=) g.595313C>T Copied from the Exome Variant Server SHOX_000020 1/12988 1/8584 0/4404
?/? c.278-38C>A r.(=) p.(=) g.595315C>A Copied from the Exome Variant Server SHOX_000021 2/12988 2/8584 0/4404
?/? c.278-25C>A r.(=) p.(=) g.595328C>A Copied from the Exome Variant Server SHOX_000022 1/12996 1/8592 0/4404
?/? c.279G>T r.(=) p.(=) g.595354G>T Copied from the Exome Variant Server SHOX_000023 3/12996 3/8592 0/4404
?/? c.363C>A r.(=) p.(=) g.595438C>A Copied from the Exome Variant Server SHOX_000024 1/12998 0/8592 1/4406
?/? c.393G>C r.(?) p.(Glu131Asp) g.595468G>C Copied from the Exome Variant Server SHOX_000025 1/12992 1/8586 0/4406
?/? c.411C>G r.(?) p.(Asp137Glu) g.595486C>G Copied from the Exome Variant Server SHOX_000026 1/12986 1/8584 0/4402
?/? c.426C>G r.(=) p.(=) g.595501C>G Copied from the Exome Variant Server SHOX_000027 1/12982 0/8584 1/4398
?/? c.447G>A r.(=) p.(=) g.595522G>A Copied from the Exome Variant Server SHOX_000028 1/12954 1/8566 0/4388
?/? c.486+8C>T r.(=) p.(=) g.595569C>T Copied from the Exome Variant Server SHOX_000029 1/12466 1/8256 0/4210
?/? c.486+21G>T r.(=) p.(=) g.595582G>T Copied from the Exome Variant Server SHOX_000030 2/11714 2/7744 0/3970
?/? c.487-65T>C r.(=) p.(=) g.601491T>C Copied from the Exome Variant Server SHOX_000031 2/4566 0/3182 2/1384
?/? c.487-29C>T r.(=) p.(=) g.601527C>T Copied from the Exome Variant Server SHOX_000032 8/12998 8/8592 0/4406
?/? c.504G>A r.(=) p.(=) g.601573G>A Copied from the Exome Variant Server SHOX_000033 1/12998 0/8592 1/4406
?/? c.538C>T r.(?) p.(His180Tyr) g.601607C>T Copied from the Exome Variant Server SHOX_000034 1/12998 1/8592 0/4406
?/? c.544+9C>T r.(=) p.(=) g.601622C>T Copied from the Exome Variant Server SHOX_000035 2/12998 1/8592 1/4406
?/? c.544+10G>A r.(=) p.(=) g.601623G>A Copied from the Exome Variant Server SHOX_000036 1/12998 1/8592 0/4406
?/? c.544+20G>A r.(=) p.(=) g.601633G>A Copied from the Exome Variant Server SHOX_000037 1/12998 1/8592 0/4406
?/? c.544+32G>C r.(=) p.(=) g.601645G>C Copied from the Exome Variant Server SHOX_000038 1/12998 1/8592 0/4406
?/? c.544+36G>C r.(=) p.(=) g.601649G>C Copied from the Exome Variant Server SHOX_000039 1/12998 0/8592 1/4406
?/? c.544+45C>A r.(=) p.(=) g.601658C>A Copied from the Exome Variant Server SHOX_000040 10/12998 9/8592 1/4406
?/? c.545-57C>T r.(=) p.(=) g.601677C>T Copied from the Exome Variant Server SHOX_000041 1/4566 1/3182 0/1384
?/? c.545-36G>A r.(=) p.(=) g.601698G>A Copied from the Exome Variant Server SHOX_000042 3/12998 0/8592 3/4406
?/? c.545-28C>T r.(=) p.(=) g.601706C>T Copied from the Exome Variant Server SHOX_000043 1/12998 0/8592 1/4406
?/? c.545-14C>T r.(=) p.(=) g.601720C>T Copied from the Exome Variant Server SHOX_000044 1/12998 1/8592 0/4406
?/? c.545-10T>C r.(=) p.(=) g.601724T>C Copied from the Exome Variant Server SHOX_000045 2/12998 2/8592 0/4406
?/? c.546C>T r.(=) p.(=) g.601735C>T Copied from the Exome Variant Server SHOX_000046 1/12998 1/8592 0/4406
?/? c.576C>T r.(=) p.(=) g.601765C>T Copied from the Exome Variant Server SHOX_000047 1/12998 1/8592 0/4406
?/? c.577G>A r.(?) p.(Ala193Thr) g.601766G>A Copied from the Exome Variant Server SHOX_000048 3/12998 0/8592 3/4406
?/? c.598G>A r.(?) p.(Val200Ile) g.601787G>A Copied from the Exome Variant Server SHOX_000049 2/12998 0/8592 2/4406
?/? c.633+5C>G r.spl? p.? g.601827C>G Copied from the Exome Variant Server SHOX_000050 3/12998 0/8592 3/4406
?/? c.633+36G>A r.(=) p.(=) g.601858G>A Copied from the Exome Variant Server SHOX_000051 1/12998 1/8592 0/4406
?/? c.634-40C>T r.(=) p.(=) g.605086C>T Copied from the Exome Variant Server SHOX_000052 8/11116 1/7432 7/3684
?/? c.634-23C>T r.(=) p.(=) g.605103C>T Copied from the Exome Variant Server SHOX_000053 4/11446 4/7632 0/3814
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