All transcript variants in gene ALDOA

Information The variants shown are described using the NM_000034.3 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-21-17C>G r.(=) p.(=) g.30078538C>G Copied from the Exome Variant Server ALDOA_000001 1/12994 1/8600 0/4394
?/? c.-12A>G r.(=) p.(=) g.30078564A>G Copied from the Exome Variant Server ALDOA_000002 2/12994 0/8600 2/4394
?/? c.-9_-8del r.(=) p.(=) g.30078567_30078568del Copied from the Exome Variant Server ALDOA_000003 1/12518 0/8254 1/4264
?/? c.-6A>G r.(=) p.(=) g.30078570A>G Copied from the Exome Variant Server ALDOA_000004 1/12994 1/8600 0/4394
?/? c.2T>C r.? p.? g.30078577T>C Copied from the Exome Variant Server ALDOA_000005 1/12994 0/8600 1/4394
?/? c.19G>A r.(?) p.(Ala7Thr) g.30078594G>A Copied from the Exome Variant Server ALDOA_000006 1/12994 1/8600 0/4394
?/? c.49T>G r.(?) p.(Ser17Ala) g.30078624T>G Copied from the Exome Variant Server ALDOA_000007 1/12994 0/8600 1/4394
?/? c.64C>T r.(?) p.(Arg22Cys) g.30078639C>T Copied from the Exome Variant Server ALDOA_000009 2/12994 1/8600 1/4394
?/? c.65G>A r.(?) p.(Arg22His) g.30078640G>A Copied from the Exome Variant Server ALDOA_000008 1/12994 0/8600 1/4394
?/? c.74C>T r.(?) p.(Ala25Val) g.30078649C>T Copied from the Exome Variant Server ALDOA_000010 1/12994 1/8600 0/4394
?/? c.91C>T r.(=) p.(=) g.30078666C>T Copied from the Exome Variant Server ALDOA_000011 2/12994 2/8600 0/4394
?/? c.112+4C>T r.spl? p.? g.30078691C>T Copied from the Exome Variant Server ALDOA_000012 33/12994 0/8600 33/4394
?/? c.112+29G>A r.(=) p.(=) g.30078716G>A Copied from the Exome Variant Server ALDOA_000013 2/12994 2/8600 0/4394
?/? c.160G>A r.(?) p.(Glu54Lys) g.30078818G>A Copied from the Exome Variant Server ALDOA_000014 1/12994 1/8600 0/4394
?/? c.202G>A r.(?) p.(Asp68Asn) g.30078860G>A Copied from the Exome Variant Server ALDOA_000015 2/12994 1/8600 1/4394
?/? c.213C>G r.(?) p.(Asn71Lys) g.30078871C>G Copied from the Exome Variant Server ALDOA_000016 2/12994 1/8600 1/4394
?/? c.215C>A r.(?) p.(Pro72His) g.30078873C>A Copied from the Exome Variant Server ALDOA_000017 1/12994 0/8600 1/4394
?/? c.249A>G r.(=) p.(=) g.30078907A>G Copied from the Exome Variant Server ALDOA_000018 54/12994 0/8600 54/4394
?/? c.309T>A r.(=) p.(=) g.30078967T>A Copied from the Exome Variant Server ALDOA_000019 12/12994 0/8600 12/4394
?/? c.324+17C>G r.(=) p.(=) g.30078999C>G Copied from the Exome Variant Server ALDOA_000020 86/12994 0/8600 86/4394
?/? c.324+45G>C r.(=) p.(=) g.30079027G>C Copied from the Exome Variant Server ALDOA_000021 1/12992 0/8600 1/4392
?/? c.325-35C>T r.(=) p.(=) g.30079932C>T Copied from the Exome Variant Server ALDOA_000022 17/12994 13/8600 4/4394
?/? c.325-31T>G r.(=) p.(=) g.30079936T>G Copied from the Exome Variant Server ALDOA_000023 2/12994 2/8600 0/4394
?/? c.325-28C>G r.(=) p.(=) g.30079939C>G Copied from the Exome Variant Server ALDOA_000024 1/12994 1/8600 0/4394
?/? c.336C>T r.(=) p.(=) g.30079978C>T Copied from the Exome Variant Server ALDOA_000025 1/12994 1/8600 0/4394
?/? c.337G>A r.(?) p.(Val113Met) g.30079979G>A Copied from the Exome Variant Server ALDOA_000026 2/12994 2/8600 0/4394
?/? c.348G>C r.(=) p.(=) g.30079990G>C Copied from the Exome Variant Server ALDOA_000027 1/12994 0/8600 1/4394
?/? c.379+24C>T r.(=) p.(=) g.30080045C>T Copied from the Exome Variant Server ALDOA_000028 1/12994 1/8600 0/4394
?/? c.379+28C>T r.(=) p.(=) g.30080049C>T Copied from the Exome Variant Server ALDOA_000029 1/12994 0/8600 1/4394
?/? c.379+39A>G r.(=) p.(=) g.30080060A>G Copied from the Exome Variant Server ALDOA_000030 2/12994 2/8600 0/4394
?/? c.379+42G>A r.(=) p.(=) g.30080063G>A Copied from the Exome Variant Server ALDOA_000031 10/12994 2/8600 8/4394
?/? c.380-35C>A r.(=) p.(=) g.30080104C>A Copied from the Exome Variant Server ALDOA_000032 1/12994 1/8600 0/4394
?/? c.380-16C>A r.(=) p.(=) g.30080123C>A Copied from the Exome Variant Server ALDOA_000033 113/12994 0/8600 113/4394
?/? c.380-3T>C r.spl? p.? g.30080136T>C Copied from the Exome Variant Server ALDOA_000034 1/12994 1/8600 0/4394
?/? c.400C>T r.(?) p.(Arg134Cys) g.30080159C>T Copied from the Exome Variant Server ALDOA_000035 1/12994 1/8600 0/4394
?/? c.423C>T r.(=) p.(=) g.30080182C>T Copied from the Exome Variant Server ALDOA_000036 1/12994 0/8600 1/4394
?/? c.451G>T r.(?) p.(Val151Leu) g.30080210G>T Copied from the Exome Variant Server ALDOA_000037 4/12994 0/8600 4/4394
?/? c.486C>G r.(=) p.(=) g.30080245C>G Copied from the Exome Variant Server ALDOA_000038 13/12994 0/8600 13/4394
?/? c.517C>T r.(?) p.(Arg173Cys) g.30080276C>T Copied from the Exome Variant Server ALDOA_000039 2/12994 2/8600 0/4394
?/? c.540+20A>G r.(=) p.(=) g.30080319A>G Copied from the Exome Variant Server ALDOA_000040 1/12994 1/8600 0/4394
?/? c.540+22A>C r.(=) p.(=) g.30080321A>C Copied from the Exome Variant Server ALDOA_000041 2/12994 1/8600 1/4394
?/? c.540+28C>T r.(=) p.(=) g.30080327C>T Copied from the Exome Variant Server ALDOA_000042 7/12994 1/8600 6/4394
?/? c.540+44_540+47del r.(=) p.(=) g.30080343_30080346del Copied from the Exome Variant Server ALDOA_000043 2/12516 0/8252 2/4264
?/? c.541-17_541-16insG r.(=) p.(=) g.30080610_30080611insG Copied from the Exome Variant Server ALDOA_000044 1/12518 1/8254 0/4264
?/? c.541-9G>A r.(=) p.(=) g.30080618G>A Copied from the Exome Variant Server ALDOA_000045 1/12994 0/8600 1/4394
?/? c.541-4G>A r.spl? p.? g.30080623G>A Copied from the Exome Variant Server ALDOA_000046 1/12994 0/8600 1/4394
?/? c.612T>C r.(=) p.(=) g.30080698T>C Copied from the Exome Variant Server ALDOA_000047 1/12994 0/8600 1/4394
?/? c.624+41G>A r.(=) p.(=) g.30080751G>A Copied from the Exome Variant Server ALDOA_000048 1/12994 1/8600 0/4394
?/? c.624+42G>A r.(=) p.(=) g.30080752G>A Copied from the Exome Variant Server ALDOA_000049 2/12994 2/8600 0/4394
?/? c.625-51C>A r.(=) p.(=) g.30080769C>A Copied from the Exome Variant Server ALDOA_000050 38/12994 0/8600 38/4394
?/? c.625-47A>G r.(=) p.(=) g.30080773A>G Copied from the Exome Variant Server ALDOA_000051 1/12994 1/8600 0/4394
?/? c.625-40C>T r.(=) p.(=) g.30080780C>T Copied from the Exome Variant Server ALDOA_000052 1239/12994 628/8600 611/4394
?/? c.625-39C>T r.(=) p.(=) g.30080781C>T Copied from the Exome Variant Server ALDOA_000053 3/12994 3/8600 0/4394
?/? c.625-21C>T r.(=) p.(=) g.30080799C>T Copied from the Exome Variant Server ALDOA_000054 1/12994 1/8600 0/4394
?/? c.625-20G>A r.(=) p.(=) g.30080800G>A Copied from the Exome Variant Server ALDOA_000055 16/12994 4/8600 12/4394
?/? c.625-17C>T r.(=) p.(=) g.30080803C>T Copied from the Exome Variant Server ALDOA_000056 1/12994 0/8600 1/4394
?/? c.625-6C>T r.(=) p.(=) g.30080814C>T Copied from the Exome Variant Server ALDOA_000057 1/12994 1/8600 0/4394
?/? c.636T>A r.(=) p.(=) g.30080831T>A Copied from the Exome Variant Server ALDOA_000058 1/12994 1/8600 0/4394
?/? c.637G>C r.(?) p.(Val213Leu) g.30080832G>C Copied from the Exome Variant Server ALDOA_000059 2/12994 0/8600 2/4394
?/? c.693C>T r.(=) p.(=) g.30080888C>T Copied from the Exome Variant Server ALDOA_000060 2/12994 0/8600 2/4394
?/? c.724C>G r.(?) p.(Gln242Glu) g.30080919C>G Copied from the Exome Variant Server ALDOA_000061 1/12994 1/8600 0/4394
?/? c.736C>T r.(?) p.(His246Tyr) g.30080931C>T Copied from the Exome Variant Server ALDOA_000062 6/12994 6/8600 0/4394
?/? c.759C>T r.(=) p.(=) g.30080954C>T Copied from the Exome Variant Server ALDOA_000063 2/12994 1/8600 1/4394
?/? c.760G>A r.(?) p.(Val254Ile) g.30080955G>A Copied from the Exome Variant Server ALDOA_000064 2/12994 1/8600 1/4394
?/? c.764C>T r.(?) p.(Thr255Ile) g.30080959C>T Copied from the Exome Variant Server ALDOA_000065 1/12994 0/8600 1/4394
?/? c.773G>A r.(?) p.(Arg258His) g.30080968G>A Copied from the Exome Variant Server ALDOA_000066 1/12994 0/8600 1/4394
?/? c.799+12A>G r.(=) p.(=) g.30081006A>G Copied from the Exome Variant Server ALDOA_000067 2/12994 2/8600 0/4394
?/? c.799+32del r.(=) p.(=) g.30081026del Copied from the Exome Variant Server ALDOA_000068 1/12518 0/8254 1/4264
?/? c.799+50A>T r.(=) p.(=) g.30081044A>T Copied from the Exome Variant Server ALDOA_000069 1/12994 1/8600 0/4394
?/? c.800-20G>A r.(=) p.(=) g.30081131G>A Copied from the Exome Variant Server ALDOA_000070 1/12994 1/8600 0/4394
?/? c.800-14C>T r.(=) p.(=) g.30081137C>T Copied from the Exome Variant Server ALDOA_000071 1/12994 1/8600 0/4394
?/? c.800-3_800-2insA r.spl? p.? g.30081148_30081149insA Copied from the Exome Variant Server ALDOA_000072 1/12518 1/8254 0/4264
?/? c.811C>T r.(=) p.(=) g.30081162C>T Copied from the Exome Variant Server ALDOA_000073 6/12994 6/8600 0/4394
?/? c.813G>A r.(=) p.(=) g.30081164G>A Copied from the Exome Variant Server ALDOA_000074 1/12994 1/8600 0/4394
?/? c.906C>T r.(=) p.(=) g.30081257C>T Copied from the Exome Variant Server ALDOA_000075 6/12994 5/8600 1/4394
?/? c.918G>A r.(=) p.(=) g.30081269G>A Copied from the Exome Variant Server ALDOA_000076 1/12994 0/8600 1/4394
?/? c.945C>T r.(=) p.(=) g.30081296C>T Copied from the Exome Variant Server ALDOA_000077 1/12994 0/8600 1/4394
?/? c.962T>C r.(?) p.(Leu321Pro) g.30081313T>C Copied from the Exome Variant Server ALDOA_000078 1/12994 1/8600 0/4394
?/? c.963G>A r.(=) p.(=) g.30081314G>A Copied from the Exome Variant Server ALDOA_000079 1/12994 1/8600 0/4394
?/? c.967G>T r.(?) p.(Ala323Ser) g.30081318G>T Copied from the Exome Variant Server ALDOA_000080 3/12994 0/8600 3/4394
?/? c.979G>A r.(?) p.(Glu327Lys) g.30081330G>A Copied from the Exome Variant Server ALDOA_000081 1/12994 1/8600 0/4394
?/? c.999+9A>G r.(=) p.(=) g.30081359A>G Copied from the Exome Variant Server ALDOA_000082 1/12976 1/8582 0/4394
?/? c.999+17G>T r.(=) p.(=) g.30081367G>T Copied from the Exome Variant Server ALDOA_000083 1548/12988 1339/8596 209/4392
?/? c.999+29G>A r.(=) p.(=) g.30081379G>A Copied from the Exome Variant Server ALDOA_000084 1/12992 1/8598 0/4394
?/? c.999+42G>C r.(=) p.(=) g.30081392G>C Copied from the Exome Variant Server ALDOA_000085 1/12994 0/8600 1/4394
?/? c.1000-41C>T r.(=) p.(=) g.30081397C>T Copied from the Exome Variant Server ALDOA_000086 2/12994 1/8600 1/4394
?/? c.1000-40G>A r.(=) p.(=) g.30081398G>A Copied from the Exome Variant Server ALDOA_000087 1/12994 0/8600 1/4394
?/? c.1000-39G>A r.(=) p.(=) g.30081399G>A Copied from the Exome Variant Server ALDOA_000088 2/12994 0/8600 2/4394
?/? c.1000-16C>T r.(=) p.(=) g.30081422C>T Copied from the Exome Variant Server ALDOA_000089 3/12994 2/8600 1/4394
?/? c.1000-11T>C r.(=) p.(=) g.30081427T>C Copied from the Exome Variant Server ALDOA_000090 1/12994 0/8600 1/4394
?/? c.1004A>G r.(?) p.(Asn335Ser) g.30081442A>G Copied from the Exome Variant Server ALDOA_000091 1/12994 1/8600 0/4394
?/? c.1020A>G r.(=) p.(=) g.30081458A>G Copied from the Exome Variant Server ALDOA_000092 11/12994 0/8600 11/4394
?/? c.1038C>T r.(=) p.(=) g.30081476C>T Copied from the Exome Variant Server ALDOA_000093 9/12994 3/8600 6/4394
?/? c.1039G>A r.(?) p.(Gly347Ser) g.30081477G>A Copied from the Exome Variant Server ALDOA_000094 28/12994 26/8600 2/4394
?/? c.1074C>T r.(=) p.(=) g.30081512C>T Copied from the Exome Variant Server ALDOA_000095 1/12994 1/8600 0/4394
?/? c.1075G>A r.(?) p.(Val359Ile) g.30081513G>A Copied from the Exome Variant Server ALDOA_000096 1/12994 1/8600 0/4394
?/? c.*19T>C r.(=) p.(=) g.30081552T>C Copied from the Exome Variant Server ALDOA_000097 1/12994 1/8600 0/4394
?/? c.*31T>G r.(=) p.(=) g.30081564T>G Copied from the Exome Variant Server ALDOA_000098 1/12994 1/8600 0/4394
?/? c.*39C>G r.(=) p.(=) g.30081572C>G Copied from the Exome Variant Server ALDOA_000099 1/12994 0/8600 1/4394
Legend