Unique variants in gene GLE1

Information The variants shown are described using the NM_001003722.1 transcript reference sequence.

139 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-45T>C r.(=) p.(=) g.131267040T>C Copied from the Exome Variant Server GLE1_000001 1/13006 0/8600 1/4406
1 c.-28del r.(=) p.(=) g.131267057del Copied from the Exome Variant Server GLE1_000002 2/12518 0/8254 2/4264
1 c.-17C>G r.(=) p.(=) g.131267068C>G Copied from the Exome Variant Server GLE1_000003 1/13006 0/8600 1/4406
1 c.-15G>C r.(=) p.(=) g.131267070G>C Copied from the Exome Variant Server GLE1_000004 1/13006 0/8600 1/4406
1 c.-13C>T r.(=) p.(=) g.131267072C>T Copied from the Exome Variant Server GLE1_000005 1/13006 0/8600 1/4406
1 c.-11C>G r.(=) p.(=) g.131267074C>G Copied from the Exome Variant Server GLE1_000006 20/13006 0/8600 20/4406
1 c.-6C>T r.(=) p.(=) g.131267079C>T Copied from the Exome Variant Server GLE1_000007 1/13006 0/8600 1/4406
1 c.5C>G r.(?) p.(Pro2Arg) g.131267089C>G Copied from the Exome Variant Server GLE1_000008 6/13006 6/8600 0/4406
1 c.99+22C>T r.(=) p.(=) g.131267205C>T Copied from the Exome Variant Server GLE1_000009 1/13006 0/8600 1/4406
1 c.99+23G>A r.(=) p.(=) g.131267206G>A Copied from the Exome Variant Server GLE1_000010 1/13006 1/8600 0/4406
1 c.99+29C>G r.(=) p.(=) g.131267212C>G Copied from the Exome Variant Server GLE1_000011 416/13006 374/8600 42/4406
1 c.99+35G>A r.(=) p.(=) g.131267218G>A Copied from the Exome Variant Server GLE1_000012 2/13006 0/8600 2/4406
1 c.100-36C>T r.(=) p.(=) g.131271119C>T Copied from the Exome Variant Server GLE1_000013 1/13006 0/8600 1/4406
1 c.100-35G>A r.(=) p.(=) g.131271120G>A Copied from the Exome Variant Server GLE1_000014 1/13006 0/8600 1/4406
1 c.116G>A r.(?) p.(Cys39Tyr) g.131271171G>A Copied from the Exome Variant Server GLE1_000015 5/13006 5/8600 0/4406
1 c.166G>A r.(?) p.(Val56Ile) g.131271221G>A Copied from the Exome Variant Server GLE1_000016 2/13006 0/8600 2/4406
1 c.201T>C r.(=) p.(=) g.131271256T>C Copied from the Exome Variant Server GLE1_000017 1/13006 1/8600 0/4406
1 c.256C>T r.(?) p.(Pro86Ser) g.131271311C>T Copied from the Exome Variant Server GLE1_000018 1/13006 1/8600 0/4406
1 c.260A>G r.(?) p.(Lys87Arg) g.131271315A>G Copied from the Exome Variant Server GLE1_000019 1/13006 0/8600 1/4406
1 c.271G>A r.(?) p.(Ala91Thr) g.131271326G>A Copied from the Exome Variant Server GLE1_000020 1/13006 0/8600 1/4406
1 c.276C>T r.(=) p.(=) g.131271331C>T Copied from the Exome Variant Server GLE1_000021 1/13006 1/8600 0/4406
1 c.322-38_322-32del r.(=) p.(=) g.131277770_131277776del Copied from the Exome Variant Server GLE1_000022 3275/12464 1650/8226 1625/4238
1 c.322-36_322-30del r.(=) p.(=) g.131277772_131277778del Copied from the Exome Variant Server GLE1_000023 3263/12464 1644/8226 1619/4238
1 c.322-1G>C r.spl? p.? g.131277807G>C Copied from the Exome Variant Server GLE1_000024 1/13006 1/8600 0/4406
1 c.380A>G r.(?) p.(Lys127Arg) g.131277866A>G Copied from the Exome Variant Server GLE1_000025 1/13006 1/8600 0/4406
1 c.393C>T r.(=) p.(=) g.131277879C>T Copied from the Exome Variant Server GLE1_000026 1/13006 1/8600 0/4406
1 c.397C>T r.(?) p.(Arg133*) g.131277883C>T Copied from the Exome Variant Server GLE1_000027 1/13006 1/8600 0/4406
1 c.405C>T r.(=) p.(=) g.131277891C>T Copied from the Exome Variant Server GLE1_000029 2/13006 0/8600 2/4406
1 c.406G>A r.(?) p.(Glu136Lys) g.131277892G>A Copied from the Exome Variant Server GLE1_000030 1/13006 0/8600 1/4406
1 c.432A>C r.(=) p.(=) g.131277918A>C Copied from the Exome Variant Server GLE1_000028 1/13006 1/8600 0/4406
1 c.432+17_432+18insGG r.(=) p.(=) g.131277935_131277936insGG Copied from the Exome Variant Server GLE1_000031 4/12518 4/8254 0/4264
1 c.432+31G>A r.(=) p.(=) g.131277949G>A Copied from the Exome Variant Server GLE1_000032 2/13006 2/8600 0/4406
1 c.432+39G>A r.(=) p.(=) g.131277957G>A Copied from the Exome Variant Server GLE1_000033 5/13006 0/8600 5/4406
1 c.432+44A>G r.(=) p.(=) g.131277962A>G Copied from the Exome Variant Server GLE1_000034 1/13004 1/8600 0/4404
1 c.432+46A>T r.(=) p.(=) g.131277964A>T Copied from the Exome Variant Server GLE1_000035 2/13004 1/8600 1/4404
1 c.444G>A r.(=) p.(=) g.131284958G>A Copied from the Exome Variant Server GLE1_000036 2/12958 1/8562 1/4396
1 c.447A>G r.(=) p.(=) g.131284961A>G Copied from the Exome Variant Server GLE1_000037 5/12980 0/8578 5/4402
1 c.454_455del r.(?) p.(Glu152Glyfs*15) g.131284968_131284969del Copied from the Exome Variant Server GLE1_000038 20/12518 10/8254 10/4264
1 c.485C>T r.(?) p.(Ser162Leu) g.131284999C>T Copied from the Exome Variant Server GLE1_000039 1/13006 0/8600 1/4406
1 c.495A>G r.(=) p.(=) g.131285009A>G Copied from the Exome Variant Server GLE1_000040 1/13006 0/8600 1/4406
1 c.536A>T r.(?) p.(Lys179Met) g.131285050A>T Copied from the Exome Variant Server GLE1_000041 1/13006 1/8600 0/4406
1 c.556G>T r.(?) p.(Asp186Tyr) g.131285070G>T Copied from the Exome Variant Server GLE1_000042 1/13006 0/8600 1/4406
1 c.562C>T r.(?) p.(Arg188Trp) g.131285076C>T Copied from the Exome Variant Server GLE1_000043 3/13006 1/8600 2/4406
1 c.573G>C r.(?) p.(Met191Ile) g.131285087G>C Copied from the Exome Variant Server GLE1_000044 3/13006 3/8600 0/4406
1 c.575A>G r.(?) p.(Glu192Gly) g.131285089A>G Copied from the Exome Variant Server GLE1_000045 3/13006 3/8600 0/4406
1 c.582-69G>T r.(=) p.(=) g.131285490G>T Copied from the Exome Variant Server GLE1_000046 1/4566 0/3182 1/1384
1 c.582-67_582-64del r.(=) p.(=) g.131285492_131285495del Copied from the Exome Variant Server GLE1_000047 19/12518 15/8254 4/4264
1 c.582-37T>C r.(=) p.(=) g.131285522T>C Copied from the Exome Variant Server GLE1_000048 2/13006 0/8600 2/4406
1 c.628C>T r.(?) p.(Arg210Cys) g.131285605C>T Copied from the Exome Variant Server GLE1_000049 1/13006 1/8600 0/4406
1 c.632A>G r.(?) p.(His211Arg) g.131285609A>G Copied from the Exome Variant Server GLE1_000050 1/13006 0/8600 1/4406
1 c.642+28_642+29insAAA r.(=) p.(=) g.131285647_131285648insAAA Copied from the Exome Variant Server GLE1_000051 1/12516 1/8254 0/4262
1 c.643-47A>C r.(=) p.(=) g.131285824A>C Copied from the Exome Variant Server GLE1_000052 3/13006 2/8600 1/4406
1 c.643-4A>G r.spl? p.? g.131285867A>G Copied from the Exome Variant Server GLE1_000053 1/13004 1/8598 0/4406
1 c.679C>T r.(?) p.(Arg227Cys) g.131285907C>T Copied from the Exome Variant Server GLE1_000054 7/13006 6/8600 1/4406
1 c.682G>A r.(?) p.(Val228Met) g.131285910G>A Copied from the Exome Variant Server GLE1_000055 1/13006 0/8600 1/4406
1 c.704G>A r.(?) p.(Arg235Gln) g.131285932G>A Copied from the Exome Variant Server GLE1_000056 1/13006 1/8600 0/4406
1 c.710G>A r.(?) p.(Arg237Gln) g.131285938G>A Copied from the Exome Variant Server GLE1_000057 1/13004 0/8600 1/4404
1 c.727A>G r.(?) p.(Ile243Val) g.131285955A>G Copied from the Exome Variant Server GLE1_000058 3443/13006 1732/8600 1711/4406
1 c.730C>T r.(?) p.(Arg244Cys) g.131285958C>T Copied from the Exome Variant Server GLE1_000059 1/13006 1/8600 0/4406
1 c.798G>A r.(=) p.(=) g.131286026G>A Copied from the Exome Variant Server GLE1_000060 1/13006 0/8600 1/4406
1 c.820G>A r.(?) p.(Val274Ile) g.131286048G>A Copied from the Exome Variant Server GLE1_000061 1/13006 1/8600 0/4406
1 c.823G>A r.(?) p.(Asp275Asn) g.131286051G>A Copied from the Exome Variant Server GLE1_000062 20/13006 0/8600 20/4406
1 c.845G>A r.(?) p.(Arg282Gln) g.131286073G>A Copied from the Exome Variant Server GLE1_000063 1/13006 0/8600 1/4406
1 c.865C>T r.(?) p.(Leu289Phe) g.131286093C>T Copied from the Exome Variant Server GLE1_000064 1/13006 1/8600 0/4406
1 c.897+4_897+5insC r.spl? p.? g.131286129_131286130insC Copied from the Exome Variant Server GLE1_000065 2/12518 0/8254 2/4264
1 c.897+16G>A r.(=) p.(=) g.131286141G>A Copied from the Exome Variant Server GLE1_000066 19/13006 16/8600 3/4406
1 c.897+37G>T r.(=) p.(=) g.131286162G>T Copied from the Exome Variant Server GLE1_000067 1/13002 0/8598 1/4404
1 c.898-35A>G r.(=) p.(=) g.131287436A>G Copied from the Exome Variant Server GLE1_000068 1/13006 1/8600 0/4406
1 c.898-28C>T r.(=) p.(=) g.131287443C>T Copied from the Exome Variant Server GLE1_000069 1/13006 0/8600 1/4406
1 c.898-13G>A r.(=) p.(=) g.131287458G>A Copied from the Exome Variant Server GLE1_000070 1/13006 0/8600 1/4406
1 c.905A>G r.(?) p.(Tyr302Cys) g.131287478A>G Copied from the Exome Variant Server GLE1_000071 1/13006 1/8600 0/4406
1 c.947G>A r.(?) p.(Arg316Gln) g.131287520G>A Copied from the Exome Variant Server GLE1_000072 16/13006 15/8600 1/4406
1 c.976G>A r.(?) p.(Gly326Arg) g.131287549G>A Copied from the Exome Variant Server GLE1_000073 1/13006 0/8600 1/4406
1 c.1000G>A r.(?) p.(Glu334Lys) g.131287573G>A Copied from the Exome Variant Server GLE1_000074 100/13006 87/8600 13/4406
1 c.1015C>A r.(?) p.(Gln339Lys) g.131287588C>A Copied from the Exome Variant Server GLE1_000075 1/13006 1/8600 0/4406
1 c.1109C>T r.(?) p.(Pro370Leu) g.131287682C>T Copied from the Exome Variant Server GLE1_000076 5/12984 5/8592 0/4392
1 c.1242+18G>A r.(=) p.(=) g.131289588G>A Copied from the Exome Variant Server GLE1_000078 1/13006 1/8600 0/4406
1 c.1242+30G>T r.(=) p.(=) g.131289600G>T Copied from the Exome Variant Server GLE1_000079 2636/13006 1661/8600 975/4406
1 c.1242+38G>A r.(=) p.(=) g.131289608G>A Copied from the Exome Variant Server GLE1_000082 1/13006 1/8600 0/4406
1 c.1243-55G>C r.(=) p.(=) g.131289680G>C Copied from the Exome Variant Server GLE1_000077 1/4566 0/3182 1/1384
1 c.1243-39T>C r.(=) p.(=) g.131289696T>C Copied from the Exome Variant Server GLE1_000080 1/13006 1/8600 0/4406
1 c.1243-38C>T r.(=) p.(=) g.131289697C>T Copied from the Exome Variant Server GLE1_000081 1/13006 1/8600 0/4406
1 c.1243-15G>T r.(=) p.(=) g.131289720G>T Copied from the Exome Variant Server GLE1_000083 1/13006 1/8600 0/4406
1 c.1243-5G>A r.spl? p.? g.131289730G>A Copied from the Exome Variant Server GLE1_000084 2/13006 2/8600 0/4406
1 c.1290G>A r.(=) p.(=) g.131289782G>A Copied from the Exome Variant Server GLE1_000085 1/13006 1/8600 0/4406
1 c.1312+41G>A r.(=) p.(=) g.131289845G>A Copied from the Exome Variant Server GLE1_000086 226/13006 109/8600 117/4406
1 c.1313-31A>G r.(=) p.(=) g.131295761A>G Copied from the Exome Variant Server GLE1_000087 1/13006 1/8600 0/4406
1 c.1323G>A r.(=) p.(=) g.131295802G>A Copied from the Exome Variant Server GLE1_000088 1/13006 1/8600 0/4406
1 c.1360G>A r.(?) p.(Gly454Arg) g.131295839G>A Copied from the Exome Variant Server GLE1_000089 1/13006 0/8600 1/4406
1 c.1384C>T r.(?) p.(Arg462Cys) g.131295863C>T Copied from the Exome Variant Server GLE1_000090 1/13006 1/8600 0/4406
1 c.1391T>C r.(?) p.(Val464Ala) g.131295870T>C Copied from the Exome Variant Server GLE1_000091 2/13006 2/8600 0/4406
1 c.1393T>A r.(?) p.(Ser465Thr) g.131295872T>A Copied from the Exome Variant Server GLE1_000092 23/13006 0/8600 23/4406
1 c.1431A>G r.(=) p.(=) g.131295910A>G Copied from the Exome Variant Server GLE1_000093 2/13006 2/8600 0/4406
1 c.1455+17C>G r.(=) p.(=) g.131295951C>G Copied from the Exome Variant Server GLE1_000094 1/13006 1/8600 0/4406
1 c.1456-35T>C r.(=) p.(=) g.131296005T>C Copied from the Exome Variant Server GLE1_000095 1/13006 0/8600 1/4406
1 c.1456-19C>T r.(=) p.(=) g.131296021C>T Copied from the Exome Variant Server GLE1_000096 1/13006 1/8600 0/4406
1 c.1456-10A>G r.(=) p.(=) g.131296030A>G Copied from the Exome Variant Server GLE1_000097 1/13006 0/8600 1/4406
1 c.1466A>C r.(?) p.(Glu489Ala) g.131296050A>C Copied from the Exome Variant Server GLE1_000098 1/13006 1/8600 0/4406
1 c.1488T>G r.(?) p.(His496Gln) g.131296072T>G Copied from the Exome Variant Server GLE1_000099 1/13006 1/8600 0/4406
1 c.1494A>G r.(=) p.(=) g.131296078A>G Copied from the Exome Variant Server GLE1_000100 1/13006 1/8600 0/4406
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