All transcript variants in gene GLI2

Information The variants shown are described using the NM_005270.4 transcript reference sequence.

289 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-7G>A r.(=) p.(=) g.121554890G>A Copied from the Exome Variant Server GLI2_000001 126/13006 1/8600 125/4406
?/? c.-1G>C r.(=) p.(=) g.121554896G>C Copied from the Exome Variant Server GLI2_000002 1/13006 1/8600 0/4406
?/? c.30C>T r.(=) p.(=) g.121554926C>T Copied from the Exome Variant Server GLI2_000003 2/13006 1/8600 1/4406
?/? c.78C>T r.(=) p.(=) g.121554974C>T Copied from the Exome Variant Server GLI2_000004 1/13006 1/8600 0/4406
?/? c.84G>A r.(=) p.(=) g.121554980G>A Copied from the Exome Variant Server GLI2_000005 1/13006 1/8600 0/4406
?/? c.119C>T r.(?) p.(Ala40Val) g.121555015C>T Copied from the Exome Variant Server GLI2_000006 3/13006 2/8600 1/4406
?/? c.121_123del r.(?) p.(Ala44del) g.121555017_121555019del Copied from the Exome Variant Server GLI2_000007 4/12512 2/8250 2/4262
?/? c.129A>C r.(=) p.(=) g.121555025A>C Copied from the Exome Variant Server GLI2_000008 14/13006 0/8600 14/4406
?/? c.132G>A r.(=) p.(=) g.121555028G>A Copied from the Exome Variant Server GLI2_000009 2/13006 1/8600 1/4406
?/? c.148+5T>C r.spl? p.? g.121555049T>C Copied from the Exome Variant Server GLI2_000010 7/13004 6/8598 1/4406
?/? c.148+14C>T r.(=) p.(=) g.121555058C>T Copied from the Exome Variant Server GLI2_000012 4/13004 4/8598 0/4406
?/? c.148+20C>T r.(=) p.(=) g.121555064C>T Copied from the Exome Variant Server GLI2_000014 2/13004 2/8598 0/4406
?/? c.148+27G>A r.(=) p.(=) g.121555071G>A Copied from the Exome Variant Server GLI2_000016 1/13004 0/8598 1/4406
?/? c.148+37G>A r.(=) p.(=) g.121555081G>A Copied from the Exome Variant Server GLI2_000018 1/12996 1/8596 0/4400
?/? c.149-23T>C r.(=) p.(=) g.121684914T>C Copied from the Exome Variant Server GLI2_000011 1/13006 1/8600 0/4406
?/? c.167C>T r.(?) p.(Pro56Leu) g.121684955C>T Copied from the Exome Variant Server GLI2_000013 1/13006 0/8600 1/4406
?/? c.168A>G r.(=) p.(=) g.121684956A>G Copied from the Exome Variant Server GLI2_000015 1/13006 1/8600 0/4406
?/? c.188C>T r.(?) p.(Pro63Leu) g.121684976C>T Copied from the Exome Variant Server GLI2_000017 2/13006 0/8600 2/4406
?/? c.189G>A r.(=) p.(=) g.121684977G>A Copied from the Exome Variant Server GLI2_000019 2/13006 2/8600 0/4406
?/? c.220C>T r.(?) p.(His74Tyr) g.121685008C>T Copied from the Exome Variant Server GLI2_000020 4/13006 4/8600 0/4406
?/? c.221A>G r.(?) p.(His74Arg) g.121685009A>G Copied from the Exome Variant Server GLI2_000021 3/13006 0/8600 3/4406
?/? c.243C>T r.(=) p.(=) g.121685031C>T Copied from the Exome Variant Server GLI2_000022 1/13006 0/8600 1/4406
?/? c.254+32C>T r.(=) p.(=) g.121685074C>T Copied from the Exome Variant Server GLI2_000023 7/13006 6/8600 1/4406
?/? c.255-22C>T r.(=) p.(=) g.121708797C>T Copied from the Exome Variant Server GLI2_000024 1/13006 1/8600 0/4406
?/? c.255-17G>T r.(=) p.(=) g.121708802G>T Copied from the Exome Variant Server GLI2_000025 31/13004 27/8598 4/4406
?/? c.270C>T r.(=) p.(=) g.121708834C>T Copied from the Exome Variant Server GLI2_000026 1/13006 0/8600 1/4406
?/? c.291C>T r.(=) p.(=) g.121708855C>T Copied from the Exome Variant Server GLI2_000027 5/13006 5/8600 0/4406
?/? c.304C>T r.(?) p.(Arg102Trp) g.121708868C>T Copied from the Exome Variant Server GLI2_000028 1/13006 1/8600 0/4406
?/? c.305G>A r.(?) p.(Arg102Gln) g.121708869G>A Copied from the Exome Variant Server GLI2_000029 4/13006 0/8600 4/4406
?/? c.314C>T r.(?) p.(Pro105Leu) g.121708878C>T Copied from the Exome Variant Server GLI2_000030 1/13006 0/8600 1/4406
?/? c.315G>A r.(=) p.(=) g.121708879G>A Copied from the Exome Variant Server GLI2_000031 2/13006 2/8600 0/4406
?/? c.320C>T r.(?) p.(Pro107Leu) g.121708884C>T Copied from the Exome Variant Server GLI2_000032 1/13006 1/8600 0/4406
?/? c.328C>T r.(?) p.(Pro110Ser) g.121708892C>T Copied from the Exome Variant Server GLI2_000033 1/13006 0/8600 1/4406
?/? c.348C>T r.(=) p.(=) g.121708912C>T Copied from the Exome Variant Server GLI2_000034 6/13006 0/8600 6/4406
?/? c.381G>A r.(=) p.(=) g.121708945G>A Copied from the Exome Variant Server GLI2_000035 1/13006 1/8600 0/4406
?/? c.392G>A r.(?) p.(Arg131His) g.121708956G>A Copied from the Exome Variant Server GLI2_000036 2/13006 2/8600 0/4406
?/? c.395C>A r.(?) p.(Ser132Tyr) g.121708959C>A Copied from the Exome Variant Server GLI2_000037 1/13006 1/8600 0/4406
?/? c.400C>T r.(?) p.(His134Tyr) g.121708964C>T Copied from the Exome Variant Server GLI2_000038 1/13006 1/8600 0/4406
?/? c.413C>T r.(?) p.(Thr138Met) g.121708977C>T Copied from the Exome Variant Server GLI2_000039 1/13006 1/8600 0/4406
?/? c.457+51C>T r.(=) p.(=) g.121709072C>T Copied from the Exome Variant Server GLI2_000040 17/13000 0/8598 17/4402
?/? c.561C>T r.(=) p.(=) g.121712924C>T Copied from the Exome Variant Server GLI2_000041 1/13006 1/8600 0/4406
?/? c.562G>A r.(?) p.(Ala188Thr) g.121712925G>A Copied from the Exome Variant Server GLI2_000042 1/13006 1/8600 0/4406
?/? c.563C>T r.(?) p.(Ala188Val) g.121712926C>T Copied from the Exome Variant Server GLI2_000043 2/13006 1/8600 1/4406
?/? c.597C>A r.(=) p.(=) g.121712960C>A Copied from the Exome Variant Server GLI2_000044 1/13004 1/8598 0/4406
?/? c.598G>A r.(?) p.(Ala200Thr) g.121712961G>A Copied from the Exome Variant Server GLI2_000045 4/13002 1/8598 3/4404
?/? c.606C>T r.(=) p.(=) g.121712969C>T Copied from the Exome Variant Server GLI2_000046 1/13004 0/8600 1/4404
?/? c.607G>A r.(?) p.(Ala203Thr) g.121712970G>A Copied from the Exome Variant Server GLI2_000047 17/13004 17/8600 0/4404
?/? c.637G>A r.(?) p.(Val213Met) g.121713000G>A Copied from the Exome Variant Server GLI2_000048 1/13004 0/8598 1/4406
?/? c.643+24G>A r.(=) p.(=) g.121713030G>A Copied from the Exome Variant Server GLI2_000049 9766/12950 8076/8558 1690/4392
?/? c.643+27G>T r.(=) p.(=) g.121713033G>T Copied from the Exome Variant Server GLI2_000050 1/12946 1/8556 0/4390
?/? c.643+35T>C r.(=) p.(=) g.121713041T>C Copied from the Exome Variant Server GLI2_000051 9757/12910 8047/8530 1710/4380
?/? c.644-28G>C r.(=) p.(=) g.121726262G>C Copied from the Exome Variant Server GLI2_000052 6/13002 5/8596 1/4406
?/? c.644-18G>A r.(=) p.(=) g.121726272G>A Copied from the Exome Variant Server GLI2_000053 1/13006 1/8600 0/4406
?/? c.649C>T r.(?) p.(Arg217Cys) g.121726295C>T Copied from the Exome Variant Server GLI2_000054 2/13006 1/8600 1/4406
?/? c.650G>A r.(?) p.(Arg217His) g.121726296G>A Copied from the Exome Variant Server GLI2_000055 4/13006 1/8600 3/4406
?/? c.671C>T r.(?) p.(Thr224Met) g.121726317C>T Copied from the Exome Variant Server GLI2_000056 2/13006 2/8600 0/4406
?/? c.672G>A r.(=) p.(=) g.121726318G>A Copied from the Exome Variant Server GLI2_000057 3/13006 0/8600 3/4406
?/? c.708C>G r.(=) p.(=) g.121726354C>G Copied from the Exome Variant Server GLI2_000058 1/13006 0/8600 1/4406
?/? c.720C>T r.(=) p.(=) g.121726366C>T Copied from the Exome Variant Server GLI2_000059 54/13006 47/8600 7/4406
?/? c.733C>A r.(?) p.(Leu245Met) g.121726379C>A Copied from the Exome Variant Server GLI2_000060 1/13006 1/8600 0/4406
?/? c.739C>T r.(?) p.(Arg247Trp) g.121726385C>T Copied from the Exome Variant Server GLI2_000061 1/13006 1/8600 0/4406
?/? c.777C>T r.(=) p.(=) g.121726423C>T Copied from the Exome Variant Server GLI2_000062 1/13006 1/8600 0/4406
?/? c.801G>A r.(=) p.(=) g.121726447G>A Copied from the Exome Variant Server GLI2_000063 10525/13006 8461/8600 2064/4406
?/? c.803C>T r.(?) p.(Ala268Val) g.121726449C>T Copied from the Exome Variant Server GLI2_000064 29/13006 0/8600 29/4406
?/? c.811G>A r.(?) p.(Gly271Ser) g.121726457G>A Copied from the Exome Variant Server GLI2_000065 1/13006 1/8600 0/4406
?/? c.845+5G>T r.spl? p.? g.121726496G>T Copied from the Exome Variant Server GLI2_000066 1/13006 0/8600 1/4406
?/? c.845+10G>A r.(=) p.(=) g.121726501G>A Copied from the Exome Variant Server GLI2_000067 1/13004 1/8600 0/4404
?/? c.845+14G>A r.(=) p.(=) g.121726505G>A Copied from the Exome Variant Server GLI2_000068 1/13000 1/8596 0/4404
?/? c.846-23T>A r.(=) p.(=) g.121727946T>A Copied from the Exome Variant Server GLI2_000069 51/13006 0/8600 51/4406
?/? c.846-22C>T r.(=) p.(=) g.121727947C>T Copied from the Exome Variant Server GLI2_000070 27/13006 0/8600 27/4406
?/? c.846-14G>A r.(=) p.(=) g.121727955G>A Copied from the Exome Variant Server GLI2_000071 1/13006 0/8600 1/4406
?/? c.880G>A r.(?) p.(Val294Met) g.121728003G>A Copied from the Exome Variant Server GLI2_000072 1/13006 0/8600 1/4406
?/? c.896T>C r.(?) p.(Ile299Thr) g.121728019T>C Copied from the Exome Variant Server GLI2_000073 1/13006 1/8600 0/4406
?/? c.906G>T r.(?) p.(Gln302His) g.121728029G>T Copied from the Exome Variant Server GLI2_000074 1/13006 0/8600 1/4406
?/? c.946C>G r.(?) p.(Leu316Val) g.121728069C>G Copied from the Exome Variant Server GLI2_000075 1/13006 1/8600 0/4406
?/? c.963C>G r.(=) p.(=) g.121728086C>G Copied from the Exome Variant Server GLI2_000076 197/13006 2/8600 195/4406
?/? c.966C>T r.(=) p.(=) g.121728089C>T Copied from the Exome Variant Server GLI2_000077 1/13006 0/8600 1/4406
?/? c.972G>A r.(=) p.(=) g.121728095G>A Copied from the Exome Variant Server GLI2_000079 1/13006 1/8600 0/4406
?/? c.985A>G r.(?) p.(Met329Val) g.121728108A>G Copied from the Exome Variant Server GLI2_000081 1/13006 0/8600 1/4406
?/? c.1003A>G r.(?) p.(Asn335Asp) g.121728126A>G Copied from the Exome Variant Server GLI2_000083 1/13006 1/8600 0/4406
?/? c.1059+4G>T r.spl? p.? g.121728186G>T Copied from the Exome Variant Server GLI2_000085 1/13006 0/8600 1/4406
?/? c.1059+40A>T r.(=) p.(=) g.121728222A>T Copied from the Exome Variant Server GLI2_000087 4/13006 4/8600 0/4406
?/? c.1059+41T>A r.(=) p.(=) g.121728223T>A Copied from the Exome Variant Server GLI2_000089 1/13006 0/8600 1/4406
?/? c.1059+51T>G r.(=) p.(=) g.121728233T>G Copied from the Exome Variant Server GLI2_000091 6/13004 5/8600 1/4404
?/? c.1060-27C>T r.(=) p.(=) g.121729490C>T Copied from the Exome Variant Server GLI2_000093 11308/13006 8466/8600 2842/4406
?/? c.1060-22T>C r.(=) p.(=) g.121729495T>C Copied from the Exome Variant Server GLI2_000095 271/13006 4/8600 267/4406
?/? c.1060-2A>C r.spl? p.? g.121729515A>C Copied from the Exome Variant Server GLI2_000097 2/13006 2/8600 0/4406
?/? c.1080G>A r.(=) p.(=) g.121729537G>A Copied from the Exome Variant Server GLI2_000099 4/13006 0/8600 4/4406
?/? c.1083C>T r.(=) p.(=) g.121729540C>T Copied from the Exome Variant Server GLI2_000101 2/13006 0/8600 2/4406
?/? c.1084G>A r.(?) p.(Val362Ile) g.121729541G>A Copied from the Exome Variant Server GLI2_000078 1/13006 1/8600 0/4406
?/? c.1095C>T r.(=) p.(=) g.121729552C>T Copied from the Exome Variant Server GLI2_000080 1/13006 1/8600 0/4406
?/? c.1106T>C r.(?) p.(Val369Ala) g.121729563T>C Copied from the Exome Variant Server GLI2_000082 4/13006 0/8600 4/4406
?/? c.1121G>A r.(?) p.(Arg374His) g.121729578G>A Copied from the Exome Variant Server GLI2_000084 1/13006 1/8600 0/4406
?/? c.1138G>A r.(?) p.(Glu380Lys) g.121729595G>A Copied from the Exome Variant Server GLI2_000086 1/13006 1/8600 0/4406
?/? c.1145A>G r.(?) p.(Glu382Gly) g.121729602A>G Copied from the Exome Variant Server GLI2_000088 1/13006 1/8600 0/4406
?/? c.1153C>T r.(?) p.(Arg385Trp) g.121729610C>T Copied from the Exome Variant Server GLI2_000090 1/13006 0/8600 1/4406
?/? c.1158G>A r.(=) p.(=) g.121729615G>A Copied from the Exome Variant Server GLI2_000092 2/13006 1/8600 1/4406
?/? c.1171G>A r.(?) p.(Ala391Thr) g.121729628G>A Copied from the Exome Variant Server GLI2_000094 2/13006 0/8600 2/4406
?/? c.1173G>A r.(=) p.(=) g.121729630G>A Copied from the Exome Variant Server GLI2_000096 1/13006 0/8600 1/4406
?/? c.1179G>A r.(=) p.(=) g.121729636G>A Copied from the Exome Variant Server GLI2_000098 1/13004 0/8600 1/4404
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