All transcript variants in gene FEZ1

Information The variants shown are described using the NM_005103.4 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-45-5T>C r.spl? p.? g.125359723A>G Copied from the Exome Variant Server FEZ1_000078 6/13000 0/8598 6/4402
?/? c.-14C>G r.(=) p.(=) g.125359687G>C Copied from the Exome Variant Server FEZ1_000077 2/13000 0/8598 2/4402
?/? c.-5C>T r.(=) p.(=) g.125359678G>A Copied from the Exome Variant Server FEZ1_000076 65/13000 1/8598 64/4402
?/? c.43C>T r.(?) p.(Leu15Phe) g.125359631G>A Copied from the Exome Variant Server FEZ1_000075 5/13000 0/8598 5/4402
?/? c.47G>A r.(?) p.(Arg16Gln) g.125359627C>T Copied from the Exome Variant Server FEZ1_000074 1/13000 1/8598 0/4402
?/? c.59C>T r.(?) p.(Ser20Leu) g.125359615G>A Copied from the Exome Variant Server FEZ1_000073 2/13000 2/8598 0/4402
?/? c.148T>G r.(?) p.(Ser50Ala) g.125359526A>C Copied from the Exome Variant Server FEZ1_000072 2/13000 0/8598 2/4402
?/? c.153C>G r.(=) p.(=) g.125359521G>C Copied from the Exome Variant Server FEZ1_000071 1/13000 0/8598 1/4402
?/? c.164G>A r.(?) p.(Ser55Asn) g.125359510C>T Copied from the Exome Variant Server FEZ1_000070 1/13000 1/8598 0/4402
?/? c.175A>G r.(?) p.(Met59Val) g.125359499T>C Copied from the Exome Variant Server FEZ1_000069 1/13000 0/8598 1/4402
?/? c.213T>C r.(=) p.(=) g.125359461A>G Copied from the Exome Variant Server FEZ1_000068 2/13000 2/8598 0/4402
?/? c.224G>A r.(?) p.(Arg75Gln) g.125359450C>T Copied from the Exome Variant Server FEZ1_000067 1/13000 1/8598 0/4402
?/? c.249C>G r.(?) p.(Asn83Lys) g.125359425G>C Copied from the Exome Variant Server FEZ1_000066 1/13000 0/8598 1/4402
?/? c.259G>A r.(?) p.(Val87Met) g.125359415C>T Copied from the Exome Variant Server FEZ1_000065 1/13000 1/8598 0/4402
?/? c.311+35C>T r.(=) p.(=) g.125359328G>A Copied from the Exome Variant Server FEZ1_000064 3/13000 0/8598 3/4402
?/? c.312-50C>T r.(=) p.(=) g.125351579G>A Copied from the Exome Variant Server FEZ1_000063 2/13000 1/8598 1/4402
?/? c.312-45C>A r.(=) p.(=) g.125351574G>T Copied from the Exome Variant Server FEZ1_000062 25/13000 0/8598 25/4402
?/? c.369T>A r.(?) p.(Asp123Glu) g.125351472A>T Copied from the Exome Variant Server FEZ1_000061 2552/13000 1601/8598 951/4402
?/? c.390T>C r.(=) p.(=) g.125351451A>G Copied from the Exome Variant Server FEZ1_000060 1/13000 1/8598 0/4402
?/? c.411+10C>T r.(=) p.(=) g.125351420G>A Copied from the Exome Variant Server FEZ1_000059 1/13000 1/8598 0/4402
?/? c.411+11G>A r.(=) p.(=) g.125351419C>T Copied from the Exome Variant Server FEZ1_000058 1/13000 1/8598 0/4402
?/? c.411+26G>C r.(=) p.(=) g.125351404C>G Copied from the Exome Variant Server FEZ1_000057 1/13000 0/8598 1/4402
?/? c.411+45A>G r.(=) p.(=) g.125351385T>C Copied from the Exome Variant Server FEZ1_000056 1/13000 1/8598 0/4402
?/? c.412-47T>G r.(=) p.(=) g.125333513A>C Copied from the Exome Variant Server FEZ1_000055 1/13000 0/8598 1/4402
?/? c.412-43G>A r.(=) p.(=) g.125333509C>T Copied from the Exome Variant Server FEZ1_000054 1/13000 1/8598 0/4402
?/? c.447G>A r.(=) p.(=) g.125333431C>T Copied from the Exome Variant Server FEZ1_000053 1/13000 1/8598 0/4402
?/? c.460_461insT r.(?) p.(Ser154Phefs*16) g.125333417_125333418insA Copied from the Exome Variant Server FEZ1_000052 1/12518 1/8254 0/4264
?/? c.462C>T r.(=) p.(=) g.125333416G>A Copied from the Exome Variant Server FEZ1_000051 2/13000 2/8598 0/4402
?/? c.471C>T r.(=) p.(=) g.125333407G>A Copied from the Exome Variant Server FEZ1_000050 1/13000 0/8598 1/4402
?/? c.498+6del r.(=) p.(=) g.125333374del Copied from the Exome Variant Server FEZ1_000049 231/12518 148/8254 83/4264
?/? c.498+19G>A r.(=) p.(=) g.125333361C>T Copied from the Exome Variant Server FEZ1_000048 1/13000 0/8598 1/4402
?/? c.498+57C>T r.(=) p.(=) g.125333323G>A Copied from the Exome Variant Server FEZ1_000047 4/4566 0/3182 4/1384
?/? c.499-16C>T r.(=) p.(=) g.125330578G>A Copied from the Exome Variant Server FEZ1_000045 5/13000 3/8598 2/4402
?/? c.499-15G>A r.(=) p.(=) g.125330577C>T Copied from the Exome Variant Server FEZ1_000043 70/13000 2/8598 68/4402
?/? c.499-11A>G r.(=) p.(=) g.125330573T>C Copied from the Exome Variant Server FEZ1_000041 1/13000 0/8598 1/4402
?/? c.606G>A r.(=) p.(=) g.125330455C>T Copied from the Exome Variant Server FEZ1_000039 4/13000 3/8598 1/4402
?/? c.645C>T r.(=) p.(=) g.125330416G>A Copied from the Exome Variant Server FEZ1_000037 1/13000 1/8598 0/4402
?/? c.667+15C>T r.(=) p.(=) g.125330379G>A Copied from the Exome Variant Server FEZ1_000035 1/13000 1/8598 0/4402
?/? c.667+27C>T r.(=) p.(=) g.125330367G>A Copied from the Exome Variant Server FEZ1_000033 2/13000 1/8598 1/4402
?/? c.667+28G>A r.(=) p.(=) g.125330366C>T Copied from the Exome Variant Server FEZ1_000031 3/13000 3/8598 0/4402
?/? c.667+46C>T r.(=) p.(=) g.125330348G>A Copied from the Exome Variant Server FEZ1_000029 2/13000 2/8598 0/4402
?/? c.668-24G>A r.(=) p.(=) g.125326026C>T Copied from the Exome Variant Server FEZ1_000027 4581/13000 3311/8598 1270/4402
?/? c.668-23C>T r.(=) p.(=) g.125326025G>A Copied from the Exome Variant Server FEZ1_000025 1/13000 0/8598 1/4402
?/? c.668-22G>A r.(=) p.(=) g.125326024C>T Copied from the Exome Variant Server FEZ1_000023 1/13000 1/8598 0/4402
?/? c.668-20del r.(=) p.(=) g.125326022del Copied from the Exome Variant Server FEZ1_000021 1/12518 1/8254 0/4264
?/? c.668-16C>T r.(=) p.(=) g.125326018G>A Copied from the Exome Variant Server FEZ1_000019 2/13000 1/8598 1/4402
?/? c.675G>A r.(=) p.(=) g.125325995C>T Copied from the Exome Variant Server FEZ1_000017 2/13000 1/8598 1/4402
?/? c.711C>T r.(=) p.(=) g.125325959G>A Copied from the Exome Variant Server FEZ1_000014 1/13000 1/8598 0/4402
?/? c.740C>T r.(?) p.(Ser247Leu) g.125325930G>A Copied from the Exome Variant Server FEZ1_000046 1/13000 0/8598 1/4402
?/? c.766C>T r.(?) p.(Arg256Cys) g.125325904G>A Copied from the Exome Variant Server FEZ1_000044 1/13000 1/8598 0/4402
?/? c.767G>A r.(?) p.(Arg256His) g.125325903C>T Copied from the Exome Variant Server FEZ1_000042 2/13000 2/8598 0/4402
?/? c.906C>T r.(=) p.(=) g.125325764G>A Copied from the Exome Variant Server FEZ1_000040 1/13000 1/8598 0/4402
?/? c.911T>C r.(?) p.(Ile304Thr) g.125325759A>G Copied from the Exome Variant Server FEZ1_000038 1/13000 1/8598 0/4402
?/? c.924C>T r.(=) p.(=) g.125325746G>A Copied from the Exome Variant Server FEZ1_000036 35/13000 0/8598 35/4402
?/? c.940-44G>T r.(=) p.(=) g.125324150C>A Copied from the Exome Variant Server FEZ1_000034 1/13000 1/8598 0/4402
?/? c.960C>G r.(?) p.(Ile320Met) g.125324086G>C Copied from the Exome Variant Server FEZ1_000032 1/13000 0/8598 1/4402
?/? c.997G>A r.(?) p.(Gly333Ser) g.125324049C>T Copied from the Exome Variant Server FEZ1_000030 1/13000 0/8598 1/4402
?/? c.1020+7G>A r.(=) p.(=) g.125324019C>T Copied from the Exome Variant Server FEZ1_000028 91/13000 0/8598 91/4402
?/? c.1020+21C>T r.(=) p.(=) g.125324005G>A Copied from the Exome Variant Server FEZ1_000026 1/13000 0/8598 1/4402
?/? c.1020+24A>T r.(=) p.(=) g.125324002T>A Copied from the Exome Variant Server FEZ1_000024 1/13000 0/8598 1/4402
?/? c.1020+33C>T r.(=) p.(=) g.125323993G>A Copied from the Exome Variant Server FEZ1_000022 1/13000 0/8598 1/4402
?/? c.1020+38A>G r.(=) p.(=) g.125323988T>C Copied from the Exome Variant Server FEZ1_000020 2/13000 2/8598 0/4402
?/? c.1020+61G>A r.(=) p.(=) g.125323965C>T Copied from the Exome Variant Server FEZ1_000018 2214/4566 1744/3182 470/1384
?/? c.1021-60_1021-59insC r.(=) p.(=) g.125322364_125322365insG Copied from the Exome Variant Server FEZ1_000015 1/12518 0/8254 1/4264
?/? c.1021-59T>A r.(=) p.(=) g.125322364A>T Copied from the Exome Variant Server FEZ1_000012 1/4566 0/3182 1/1384
?/? c.1065C>T r.(=) p.(=) g.125322261G>A Copied from the Exome Variant Server FEZ1_000010 20/13000 0/8598 20/4402
?/? c.1072G>C r.(?) p.(Glu358Gln) g.125322254C>G Copied from the Exome Variant Server FEZ1_000008 157/13000 143/8598 14/4402
?/? c.1096+22C>G r.(=) p.(=) g.125322208G>C Copied from the Exome Variant Server FEZ1_000006 1/13000 0/8598 1/4402
?/? c.1146G>A r.(=) p.(=) g.125318414C>T Copied from the Exome Variant Server FEZ1_000005 1/13000 1/8598 0/4402
?/? c.1162+4A>G r.spl? p.? g.125318394T>C Copied from the Exome Variant Server FEZ1_000004 3/13000 0/8598 3/4402
?/? c.1162+8C>A r.(=) p.(=) g.125318390G>T Copied from the Exome Variant Server FEZ1_000003 1/13000 0/8598 1/4402
?/? c.1163-66A>T r.(=) p.(=) g.125316073T>A Copied from the Exome Variant Server FEZ1_000002 613/4566 476/3182 137/1384
?/? c.1163-60C>T r.(=) p.(=) g.125316067G>A Copied from the Exome Variant Server FEZ1_000001 1/4566 0/3182 1/1384
?/? c.1163-55G>T r.(=) p.(=) g.125316062C>A Copied from the Exome Variant Server FEZ1_000016 2/4566 0/3182 2/1384
?/? c.1163-41C>G r.(=) p.(=) g.125316048G>C Copied from the Exome Variant Server FEZ1_000013 1/13000 1/8598 0/4402
?/? c.1163-32G>A r.(=) p.(=) g.125316039C>T Copied from the Exome Variant Server FEZ1_000011 3/13000 0/8598 3/4402
?/? c.1163-28G>A r.(=) p.(=) g.125316035C>T Copied from the Exome Variant Server FEZ1_000009 3/13000 1/8598 2/4402
?/? c.1163-7G>A r.(=) p.(=) g.125316014C>T Copied from the Exome Variant Server FEZ1_000007 3/13000 1/8598 2/4402
Legend