Full data view for gene GDF5

Information The variants shown are described using the NM_000557.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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.-48T>C r.(=) p.(=) g.34025756A>G Copied from the Exome Variant Server GDF5_000061 7560/12978 3714/8584 3846/4394 - - - - - - -
?/? c.-39C>A r.(=) p.(=) g.34025747G>T Copied from the Exome Variant Server GDF5_000060 1/12980 1/8586 0/4394 - - - - - - -
?/? c.-30C>A r.(=) p.(=) g.34025738G>T Copied from the Exome Variant Server GDF5_000059 1/12990 1/8590 0/4400 - - - - - - -
?/? c.25T>C r.(?) p.(Phe9Leu) g.34025684A>G Copied from the Exome Variant Server GDF5_000058 1/13004 1/8600 0/4404 - - - - - - -
?/? c.29T>C r.(?) p.(Leu10Ser) g.34025680A>G Copied from the Exome Variant Server GDF5_000057 8/13002 0/8598 8/4404 - - - - - - -
?/? c.64A>G r.(?) p.(Ile22Val) g.34025645T>C Copied from the Exome Variant Server GDF5_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.65T>C r.(?) p.(Ile22Thr) g.34025644A>G Copied from the Exome Variant Server GDF5_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.152C>T r.(?) p.(Pro51Leu) g.34025557G>A Copied from the Exome Variant Server GDF5_000054 2/12998 2/8594 0/4404 - - - - - - -
?/? c.164G>A r.(?) p.(Arg55Gln) g.34025545C>T Copied from the Exome Variant Server GDF5_000053 1/12982 1/8582 0/4400 - - - - - - -
?/? c.169G>A r.(?) p.(Val57Ile) g.34025540C>T Copied from the Exome Variant Server GDF5_000052 2/12998 2/8594 0/4404 - - - - - - -
?/? c.201G>A r.(=) p.(=) g.34025508C>T Copied from the Exome Variant Server GDF5_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.240C>T r.(=) p.(=) g.34025469G>A Copied from the Exome Variant Server GDF5_000050 2/13006 2/8600 0/4406 - - - - - - -
?/? c.241G>A r.(?) p.(Gly81Arg) g.34025468C>T Copied from the Exome Variant Server GDF5_000049 4/13006 3/8600 1/4406 - - - - - - -
?/? c.301C>T r.(?) p.(Pro101Ser) g.34025408G>A Copied from the Exome Variant Server GDF5_000048 2/13006 0/8600 2/4406 - - - - - - -
?/? c.302C>T r.(?) p.(Pro101Leu) g.34025407G>A Copied from the Exome Variant Server GDF5_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.334C>G r.(?) p.(Pro112Ala) g.34025375G>C Copied from the Exome Variant Server GDF5_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.347A>G r.(?) p.(Gln116Arg) g.34025362T>C Copied from the Exome Variant Server GDF5_000045 3/13006 0/8600 3/4406 - - - - - - -
?/? c.349G>T r.(?) p.(Ala117Ser) g.34025360C>A Copied from the Exome Variant Server GDF5_000044 56/13006 0/8600 56/4406 - - - - - - -
?/? c.359G>A r.(?) p.(Arg120Gln) g.34025350C>T Copied from the Exome Variant Server GDF5_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.388G>A r.(?) p.(Gly130Arg) g.34025321C>T Copied from the Exome Variant Server GDF5_000042 46/13006 2/8600 44/4406 - - - - - - -
?/? c.461C>T r.(?) p.(Pro154Leu) g.34025248G>A Copied from the Exome Variant Server GDF5_000041 3/13006 0/8600 3/4406 - - - - - - -
?/? c.462C>A r.(=) p.(=) g.34025247G>T Copied from the Exome Variant Server GDF5_000040 29/13006 0/8600 29/4406 - - - - - - -
?/? c.487C>T r.(?) p.(Arg163Cys) g.34025222G>A Copied from the Exome Variant Server GDF5_000039 2/13006 1/8600 1/4406 - - - - - - -
?/? c.488G>A r.(?) p.(Arg163His) g.34025221C>T Copied from the Exome Variant Server GDF5_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.490C>T r.(?) p.(Pro164Ser) g.34025219G>A Copied from the Exome Variant Server GDF5_000037 3/13006 0/8600 3/4406 - - - - - - -
?/? c.497C>A r.(?) p.(Pro166His) g.34025212G>T Copied from the Exome Variant Server GDF5_000036 437/13006 3/8600 434/4406 - - - - - - -
?/? c.525G>T r.(=) p.(=) g.34025184C>A Copied from the Exome Variant Server GDF5_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.536C>T r.(?) p.(Thr179Met) g.34025173G>A Copied from the Exome Variant Server GDF5_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.544G>A r.(?) p.(Asp182Asn) g.34025165C>T Copied from the Exome Variant Server GDF5_000033 2/13006 1/8600 1/4406 - - - - - - -
?/? c.560G>A r.(?) p.(Gly187Glu) g.34025149C>T Copied from the Exome Variant Server GDF5_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.574G>A r.(?) p.(Val192Met) g.34025135C>T Copied from the Exome Variant Server GDF5_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.628C>T r.(?) p.(Gln210*) g.34025081G>A Copied from the Exome Variant Server GDF5_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.631+10C>T r.(=) p.(=) g.34025068G>A Copied from the Exome Variant Server GDF5_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.631+49C>T r.(=) p.(=) g.34025029G>A Copied from the Exome Variant Server GDF5_000028 1/13002 0/8596 1/4406 - - - - - - -
?/? c.652A>C r.(=) p.(=) g.34022561T>G Copied from the Exome Variant Server GDF5_000027 18/13006 0/8600 18/4406 - - - - - - -
?/? c.740C>T r.(?) p.(Ser247Leu) g.34022473G>A Copied from the Exome Variant Server GDF5_000026 2/13006 0/8600 2/4406 - - - - - - -
?/? c.826T>G r.(?) p.(Ser276Ala) g.34022387A>C Copied from the Exome Variant Server GDF5_000025 4741/12846 2951/8530 1790/4316 - - - - - - -
?/? c.846C>T r.(=) p.(=) g.34022367G>A Copied from the Exome Variant Server GDF5_000024 1/12968 1/8580 0/4388 - - - - - - -
?/? c.855C>T r.(=) p.(=) g.34022358G>A Copied from the Exome Variant Server GDF5_000023 3/12974 3/8586 0/4388 - - - - - - -
?/? c.956G>T r.(?) p.(Gly319Val) g.34022257C>A Copied from the Exome Variant Server GDF5_000022 1/12986 1/8592 0/4394 - - - - - - -
?/? c.978C>G r.(=) p.(=) g.34022235G>C Copied from the Exome Variant Server GDF5_000021 1/13000 0/8596 1/4404 - - - - - - -
?/? c.988G>T r.(?) p.(Asp330Tyr) g.34022225C>A Copied from the Exome Variant Server GDF5_000020 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1000C>T r.(?) p.(Arg334Trp) g.34022213G>A Copied from the Exome Variant Server GDF5_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1017G>A r.(=) p.(=) g.34022196C>T Copied from the Exome Variant Server GDF5_000018 1339/12998 472/8592 867/4406 - - - - - - -
?/? c.1027C>T r.(=) p.(=) g.34022186G>A Copied from the Exome Variant Server GDF5_000017 1/12996 1/8590 0/4406 - - - - - - -
?/? c.1041C>T r.(=) p.(=) g.34022172G>A Copied from the Exome Variant Server GDF5_000016 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1043C>T r.(?) p.(Thr348Ile) g.34022170G>A Copied from the Exome Variant Server GDF5_000015 1/13000 0/8596 1/4404 - - - - - - -
?/? c.1051C>T r.(?) p.(Arg351Trp) g.34022162G>A Copied from the Exome Variant Server GDF5_000014 3/12996 2/8592 1/4404 - - - - - - -
?/? c.1067A>G r.(?) p.(Asn356Ser) g.34022146T>C Copied from the Exome Variant Server GDF5_000013 1/12998 1/8594 0/4404 - - - - - - -
?/? c.1083C>T r.(=) p.(=) g.34022130G>A Copied from the Exome Variant Server GDF5_000012 4/13004 0/8598 4/4406 - - - - - - -
?/? c.1128G>T r.(?) p.(Gln376His) g.34022085C>A Copied from the Exome Variant Server GDF5_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1148C>T r.(?) p.(Pro383Leu) g.34022065G>A Copied from the Exome Variant Server GDF5_000010 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1159C>T r.(?) p.(Arg387Cys) g.34022054G>A Copied from the Exome Variant Server GDF5_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1166G>T r.(?) p.(Gly389Val) g.34022047C>A Copied from the Exome Variant Server GDF5_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1167C>G r.(=) p.(=) g.34022046G>C Copied from the Exome Variant Server GDF5_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1191G>C r.(?) p.(Lys397Asn) g.34022022C>G Copied from the Exome Variant Server GDF5_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1268A>T r.(?) p.(Glu423Val) g.34021945T>A Copied from the Exome Variant Server GDF5_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1309T>C r.(=) p.(=) g.34021904A>G Copied from the Exome Variant Server GDF5_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1331C>G r.(?) p.(Thr444Arg) g.34021882G>C Copied from the Exome Variant Server GDF5_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1371C>T r.(=) p.(=) g.34021842G>A Copied from the Exome Variant Server GDF5_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1473G>A r.(=) p.(=) g.34021740C>T Copied from the Exome Variant Server GDF5_000001 3/13006 3/8600 0/4406 - - - - - - -
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