All transcript variants in gene G6PC

Information The variants shown are described using the NM_000151.3 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     
?/? c.-45G>A r.(=) p.(=) g.41052849G>A Copied from the Exome Variant Server G6PC_000001 14/13006 14/8600 0/4406
?/? c.-15G>T r.(=) p.(=) g.41052879G>T Copied from the Exome Variant Server G6PC_000002 1/13006 1/8600 0/4406
?/? c.-2G>A r.(=) p.(=) g.41052892G>A Copied from the Exome Variant Server G6PC_000003 1/13006 1/8600 0/4406
?/? c.15G>A r.(?) p.(Met5Ile) g.41052908G>A Copied from the Exome Variant Server G6PC_000004 1/13006 0/8600 1/4406
?/? c.18T>C r.(=) p.(=) g.41052911T>C Copied from the Exome Variant Server G6PC_000005 2/13006 2/8600 0/4406
?/? c.75C>G r.(?) p.(Asp25Glu) g.41052968C>G Copied from the Exome Variant Server G6PC_000006 1/13006 1/8600 0/4406
?/? c.77del r.(?) p.(Gln27Argfs*9) g.41052970del Copied from the Exome Variant Server G6PC_000007 25/12518 15/8254 10/4264
?/? c.81G>C r.(?) p.(Gln27His) g.41052974G>C Copied from the Exome Variant Server G6PC_000008 1/13006 1/8600 0/4406
?/? c.118A>G r.(?) p.(Arg40Gly) g.41053011A>G Copied from the Exome Variant Server G6PC_000009 1/13006 1/8600 0/4406
?/? c.133G>A r.(?) p.(Val45Ile) g.41053026G>A Copied from the Exome Variant Server G6PC_000010 1/13006 1/8600 0/4406
?/? c.193G>T r.(?) p.(Ala65Ser) g.41053086G>T Copied from the Exome Variant Server G6PC_000011 1/13006 1/8600 0/4406
?/? c.219C>A r.(=) p.(=) g.41053112C>A Copied from the Exome Variant Server G6PC_000012 1/13006 1/8600 0/4406
?/? c.230+30A>G r.(=) p.(=) g.41053153A>G Copied from the Exome Variant Server G6PC_000013 70/13006 0/8600 70/4406
?/? c.230+44C>T r.(=) p.(=) g.41053167C>T Copied from the Exome Variant Server G6PC_000014 6/13006 0/8600 6/4406
?/? c.231-12G>A r.(=) p.(=) g.41055936G>A Copied from the Exome Variant Server G6PC_000015 1/13006 1/8600 0/4406
?/? c.231-11T>C r.(=) p.(=) g.41055937T>C Copied from the Exome Variant Server G6PC_000016 1/13006 0/8600 1/4406
?/? c.247C>T r.(?) p.(Arg83Cys) g.41055964C>T Copied from the Exome Variant Server G6PC_000017 6/13006 5/8600 1/4406
?/? c.252A>G r.(=) p.(=) g.41055969A>G Copied from the Exome Variant Server G6PC_000018 1/13006 1/8600 0/4406
?/? c.258G>A r.(?) p.(Trp86*) g.41055975G>A Copied from the Exome Variant Server G6PC_000019 1/13006 1/8600 0/4406
?/? c.304A>T r.(?) p.(Ile102Leu) g.41056021A>T Copied from the Exome Variant Server G6PC_000020 1/13006 0/8600 1/4406
?/? c.340+10C>A r.(=) p.(=) g.41056067C>A Copied from the Exome Variant Server G6PC_000021 14/13006 11/8600 3/4406
?/? c.340+20C>T r.(=) p.(=) g.41056077C>T Copied from the Exome Variant Server G6PC_000022 7/13006 0/8600 7/4406
?/? c.340+42C>T r.(=) p.(=) g.41056099C>T Copied from the Exome Variant Server G6PC_000023 252/13006 9/8600 243/4406
?/? c.432G>A r.(=) p.(=) g.41059631G>A Copied from the Exome Variant Server G6PC_000024 336/13006 5/8600 331/4406
?/? c.453G>A r.(=) p.(=) g.41061326G>A Copied from the Exome Variant Server G6PC_000025 1/13006 1/8600 0/4406
?/? c.508C>T r.(?) p.(Arg170*) g.41061381C>T Copied from the Exome Variant Server G6PC_000026 1/13006 1/8600 0/4406
?/? c.549T>C r.(=) p.(=) g.41061422T>C Copied from the Exome Variant Server G6PC_000027 1/13006 1/8600 0/4406
?/? c.558G>T r.(=) p.(=) g.41061431G>T Copied from the Exome Variant Server G6PC_000028 5/13006 0/8600 5/4406
?/? c.562G>C r.(?) p.(Gly188Arg) g.41061435G>C Copied from the Exome Variant Server G6PC_000029 1/13006 1/8600 0/4406
?/? c.562+10G>A r.(=) p.(=) g.41061445G>A Copied from the Exome Variant Server G6PC_000030 7/13006 0/8600 7/4406
?/? c.563-41A>G r.(=) p.(=) g.41062891A>G Copied from the Exome Variant Server G6PC_000031 2/13006 2/8600 0/4406
?/? c.563-37C>A r.(=) p.(=) g.41062895C>A Copied from the Exome Variant Server G6PC_000032 1/13006 1/8600 0/4406
?/? c.563-23C>T r.(=) p.(=) g.41062909C>T Copied from the Exome Variant Server G6PC_000033 1/13006 1/8600 0/4406
?/? c.615C>T r.(=) p.(=) g.41062984C>T Copied from the Exome Variant Server G6PC_000034 1/13006 1/8600 0/4406
?/? c.657C>T r.(=) p.(=) g.41063026C>T Copied from the Exome Variant Server G6PC_000035 1/13006 1/8600 0/4406
?/? c.694G>A r.(?) p.(Val232Ile) g.41063063G>A Copied from the Exome Variant Server G6PC_000036 3/13006 3/8600 0/4406
?/? c.786C>T r.(=) p.(=) g.41063155C>T Copied from the Exome Variant Server G6PC_000037 1/13006 1/8600 0/4406
?/? c.793C>G r.(?) p.(Leu265Val) g.41063162C>G Copied from the Exome Variant Server G6PC_000038 5/13006 4/8600 1/4406
?/? c.800C>T r.(?) p.(Thr267Met) g.41063169C>T Copied from the Exome Variant Server G6PC_000039 2/13006 2/8600 0/4406
?/? c.813G>C r.(=) p.(=) g.41063182G>C Copied from the Exome Variant Server G6PC_000040 1/13006 1/8600 0/4406
?/? c.846G>A r.(=) p.(=) g.41063215G>A Copied from the Exome Variant Server G6PC_000041 1/13006 0/8600 1/4406
?/? c.870G>A r.(=) p.(=) g.41063239G>A Copied from the Exome Variant Server G6PC_000042 1/13006 1/8600 0/4406
?/? c.884G>A r.(?) p.(Arg295His) g.41063253G>A Copied from the Exome Variant Server G6PC_000043 1/13006 1/8600 0/4406
?/? c.909C>T r.(=) p.(=) g.41063278C>T Copied from the Exome Variant Server G6PC_000044 1/13006 1/8600 0/4406
?/? c.942C>G r.(=) p.(=) g.41063311C>G Copied from the Exome Variant Server G6PC_000045 1/13006 0/8600 1/4406
?/? c.943C>G r.(?) p.(Pro315Ala) g.41063312C>G Copied from the Exome Variant Server G6PC_000046 5/13006 5/8600 0/4406
?/? c.948C>A r.(=) p.(=) g.41063317C>A Copied from the Exome Variant Server G6PC_000047 4/13006 1/8600 3/4406
?/? c.954C>A r.(=) p.(=) g.41063323C>A Copied from the Exome Variant Server G6PC_000048 1/13006 0/8600 1/4406
?/? c.970G>A r.(?) p.(Val324Ile) g.41063339G>A Copied from the Exome Variant Server G6PC_000049 1/13006 0/8600 1/4406
?/? c.992C>T r.(?) p.(Ala331Val) g.41063361C>T Copied from the Exome Variant Server G6PC_000050 3/13006 2/8600 1/4406
?/? c.993G>A r.(=) p.(=) g.41063362G>A Copied from the Exome Variant Server G6PC_000051 1/13006 1/8600 0/4406
?/? c.1002C>T r.(=) p.(=) g.41063371C>T Copied from the Exome Variant Server G6PC_000052 4/13006 0/8600 4/4406
?/? c.1011C>T r.(=) p.(=) g.41063380C>T Copied from the Exome Variant Server G6PC_000053 1/13006 1/8600 0/4406
?/? c.1012G>A r.(?) p.(Val338Ile) g.41063381G>A Copied from the Exome Variant Server G6PC_000054 1/13006 1/8600 0/4406
?/? c.1039C>T r.(?) p.(Gln347*) g.41063408C>T Copied from the Exome Variant Server G6PC_000055 9/13006 9/8600 0/4406
?/? c.1055C>T r.(?) p.(Pro352Leu) g.41063424C>T Copied from the Exome Variant Server G6PC_000056 1/13002 1/8598 0/4404
?/? c.*3G>A r.(=) p.(=) g.41063446G>A Copied from the Exome Variant Server G6PC_000057 10/12990 1/8592 9/4398
?/? c.*17G>A r.(=) p.(=) g.41063460G>A Copied from the Exome Variant Server G6PC_000058 1/12966 0/8572 1/4394
?/? c.*23T>C r.(=) p.(=) g.41063466T>C Copied from the Exome Variant Server G6PC_000059 9773/12954 6708/8566 3065/4388
?/? c.*24A>C r.(=) p.(=) g.41063467A>C Copied from the Exome Variant Server G6PC_000060 3/12952 0/8564 3/4388
?/? c.*26A>G r.(=) p.(=) g.41063469A>G Copied from the Exome Variant Server G6PC_000061 1/12956 1/8568 0/4388
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