All transcript variants in gene AKR1B10

Information The variants shown are described using the NM_020299.4 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-53G>A r.(=) p.(=) g.134212611G>A Copied from the Exome Variant Server AKR1B10_000002 1716/4566 1240/3182 476/1384
?/? c.-45C>T r.(=) p.(=) g.134212619C>T Copied from the Exome Variant Server AKR1B10_000004 1/13006 1/8600 0/4406
?/? c.-44G>A r.(=) p.(=) g.134212620G>A Copied from the Exome Variant Server AKR1B10_000007 2/13006 2/8600 0/4406
?/? c.27C>A r.(=) p.(=) g.134212690C>A Copied from the Exome Variant Server AKR1B10_000009 3/13006 0/8600 3/4406
?/? c.39G>A r.(?) p.(Met13Ile) g.134212702G>A Copied from the Exome Variant Server AKR1B10_000001 2/13006 2/8600 0/4406
?/? c.51C>T r.(=) p.(=) g.134212714C>T Copied from the Exome Variant Server AKR1B10_000003 1/13006 1/8600 0/4406
?/? c.66+12A>G r.(=) p.(=) g.134212741A>G Copied from the Exome Variant Server AKR1B10_000005 4878/13006 3377/8600 1501/4406
?/? c.66+24C>T r.(=) p.(=) g.134212753C>T Copied from the Exome Variant Server AKR1B10_000006 93/13006 87/8600 6/4406
?/? c.66+43C>T r.(=) p.(=) g.134212772C>T Copied from the Exome Variant Server AKR1B10_000008 1/13006 0/8600 1/4406
?/? c.67-43_67-42insA r.(=) p.(=) g.134215352_134215353insA Copied from the Exome Variant Server AKR1B10_000010 187/12518 5/8254 182/4264
?/? c.67-35A>T r.(=) p.(=) g.134215360A>T Copied from the Exome Variant Server AKR1B10_000011 4/13006 4/8600 0/4406
?/? c.75T>C r.(=) p.(=) g.134215403T>C Copied from the Exome Variant Server AKR1B10_000012 7215/13006 3954/8600 3261/4406
?/? c.117A>G r.(=) p.(=) g.134215445A>G Copied from the Exome Variant Server AKR1B10_000013 1/13006 0/8600 1/4406
?/? c.121C>T r.(?) p.(Arg41Trp) g.134215449C>T Copied from the Exome Variant Server AKR1B10_000014 1/13006 1/8600 0/4406
?/? c.122G>A r.(?) p.(Arg41Gln) g.134215450G>A Copied from the Exome Variant Server AKR1B10_000015 6/13006 1/8600 5/4406
?/? c.204G>C r.(=) p.(=) g.134215532G>C Copied from the Exome Variant Server AKR1B10_000016 1/13006 0/8600 1/4406
?/? c.226G>A r.(?) p.(Val76Ile) g.134215554G>A Copied from the Exome Variant Server AKR1B10_000017 5/13006 0/8600 5/4406
?/? c.234+30C>T r.(=) p.(=) g.134215592C>T Copied from the Exome Variant Server AKR1B10_000018 5/13006 0/8600 5/4406
?/? c.235T>C r.(=) p.(=) g.134216660T>C Copied from the Exome Variant Server AKR1B10_000019 4/13006 0/8600 4/4406
?/? c.257G>C r.(?) p.(Arg86Thr) g.134216682G>C Copied from the Exome Variant Server AKR1B10_000020 1/13006 1/8600 0/4406
?/? c.259C>T r.(?) p.(Pro87Ser) g.134216684C>T Copied from the Exome Variant Server AKR1B10_000021 169/13006 142/8600 27/4406
?/? c.261C>T r.(=) p.(=) g.134216686C>T Copied from the Exome Variant Server AKR1B10_000022 1/13006 1/8600 0/4406
?/? c.309C>T r.(=) p.(=) g.134216734C>T Copied from the Exome Variant Server AKR1B10_000023 2/13002 2/8596 0/4406
?/? c.319G>A r.(?) p.(Val107Ile) g.134216744G>A Copied from the Exome Variant Server AKR1B10_000024 1/13006 1/8600 0/4406
?/? c.332A>G r.(?) p.(His111Arg) g.134216757A>G Copied from the Exome Variant Server AKR1B10_000025 6/13006 4/8600 2/4406
?/? c.340C>T r.(?) p.(Gln114*) g.134216765C>T Copied from the Exome Variant Server AKR1B10_000026 8/13006 0/8600 8/4406
?/? c.343G>A r.(?) p.(Gly115Arg) g.134216768G>A Copied from the Exome Variant Server AKR1B10_000027 1/13006 0/8600 1/4406
?/? c.351+11_351+12del r.(=) p.(=) g.134216787_134216788del Copied from the Exome Variant Server AKR1B10_000028 8/12518 0/8254 8/4264
?/? c.352-35C>A r.(=) p.(=) g.134217721C>A Copied from the Exome Variant Server AKR1B10_000029 2/13006 2/8600 0/4406
?/? c.352-28C>T r.(=) p.(=) g.134217728C>T Copied from the Exome Variant Server AKR1B10_000030 1/13006 1/8600 0/4406
?/? c.352-27A>G r.(=) p.(=) g.134217729A>G Copied from the Exome Variant Server AKR1B10_000031 2442/13006 2172/8600 270/4406
?/? c.352-21C>T r.(=) p.(=) g.134217735C>T Copied from the Exome Variant Server AKR1B10_000032 90/13006 0/8600 90/4406
?/? c.352-12C>G r.(=) p.(=) g.134217744C>G Copied from the Exome Variant Server AKR1B10_000033 1/13006 1/8600 0/4406
?/? c.373A>G r.(?) p.(Lys125Glu) g.134217777A>G Copied from the Exome Variant Server AKR1B10_000034 3/13006 0/8600 3/4406
?/? c.417G>A r.(=) p.(=) g.134217821G>A Copied from the Exome Variant Server AKR1B10_000035 55/13006 0/8600 55/4406
?/? c.429+28C>T r.(=) p.(=) g.134217861C>T Copied from the Exome Variant Server AKR1B10_000036 3/13006 0/8600 3/4406
?/? c.429+39A>G r.(=) p.(=) g.134217872A>G Copied from the Exome Variant Server AKR1B10_000037 5/13006 0/8600 5/4406
?/? c.429+62G>A r.(=) p.(=) g.134217895G>A Copied from the Exome Variant Server AKR1B10_000038 1/4566 1/3182 0/1384
?/? c.430-34A>G r.(=) p.(=) g.134221368A>G Copied from the Exome Variant Server AKR1B10_000039 868/13006 298/8600 570/4406
?/? c.430-27C>T r.(=) p.(=) g.134221375C>T Copied from the Exome Variant Server AKR1B10_000040 873/13002 299/8596 574/4406
?/? c.430-19G>A r.(=) p.(=) g.134221383G>A Copied from the Exome Variant Server AKR1B10_000041 4/13006 0/8600 4/4406
?/? c.430-17A>G r.(=) p.(=) g.134221385A>G Copied from the Exome Variant Server AKR1B10_000042 1/13006 1/8600 0/4406
?/? c.488G>A r.(?) p.(Ser163Asn) g.134221460G>A Copied from the Exome Variant Server AKR1B10_000043 1/13006 1/8600 0/4406
?/? c.490C>T r.(?) p.(His164Tyr) g.134221462C>T Copied from the Exome Variant Server AKR1B10_000044 1/13006 1/8600 0/4406
?/? c.501C>T r.(=) p.(=) g.134221473C>T Copied from the Exome Variant Server AKR1B10_000045 4/13006 4/8600 0/4406
?/? c.502G>A r.(?) p.(Glu168Lys) g.134221474G>A Copied from the Exome Variant Server AKR1B10_000046 1/13006 1/8600 0/4406
?/? c.516C>T r.(=) p.(=) g.134221488C>T Copied from the Exome Variant Server AKR1B10_000047 1/13006 0/8600 1/4406
?/? c.534T>G r.(?) p.(Tyr178*) g.134221506T>G Copied from the Exome Variant Server AKR1B10_000049 2/13006 2/8600 0/4406
?/? c.552+5A>G r.spl? p.? g.134221529A>G Copied from the Exome Variant Server AKR1B10_000051 9/13000 9/8594 0/4406
?/? c.552+17T>A r.(=) p.(=) g.134221541T>A Copied from the Exome Variant Server AKR1B10_000053 929/13002 298/8596 631/4406
?/? c.552+20A>T r.(=) p.(=) g.134221544A>T Copied from the Exome Variant Server AKR1B10_000055 2/13006 0/8600 2/4406
?/? c.552+21G>C r.(=) p.(=) g.134221545G>C Copied from the Exome Variant Server AKR1B10_000057 1/13006 0/8600 1/4406
?/? c.552+37C>A r.(=) p.(=) g.134221561C>A Copied from the Exome Variant Server AKR1B10_000059 2/13006 2/8600 0/4406
?/? c.553-42A>G r.(=) p.(=) g.134221761A>G Copied from the Exome Variant Server AKR1B10_000061 1/12884 1/8554 0/4330
?/? c.553-26G>A r.(=) p.(=) g.134221777G>A Copied from the Exome Variant Server AKR1B10_000048 4/12770 4/8500 0/4270
?/? c.582G>T r.(?) p.(Glu194Asp) g.134221832G>T Copied from the Exome Variant Server AKR1B10_000050 1/12880 1/8546 0/4334
?/? c.609G>A r.(=) p.(=) g.134221859G>A Copied from the Exome Variant Server AKR1B10_000052 1/12874 1/8552 0/4322
?/? c.618C>T r.(=) p.(=) g.134221868C>T Copied from the Exome Variant Server AKR1B10_000054 1/12882 1/8562 0/4320
?/? c.623C>T r.(?) p.(Thr208Met) g.134221873C>T Copied from the Exome Variant Server AKR1B10_000056 6/12864 4/8560 2/4304
?/? c.660-16A>G r.(=) p.(=) g.134222316A>G Copied from the Exome Variant Server AKR1B10_000058 1/13006 0/8600 1/4406
?/? c.660-12T>G r.(=) p.(=) g.134222320T>G Copied from the Exome Variant Server AKR1B10_000060 1/13006 1/8600 0/4406
?/? c.660-4C>G r.spl? p.? g.134222328C>G Copied from the Exome Variant Server AKR1B10_000062 170/13006 1/8600 169/4406
?/? c.667C>T r.(?) p.(Pro223Ser) g.134222339C>T Copied from the Exome Variant Server AKR1B10_000063 1/13006 1/8600 0/4406
?/? c.668C>G r.(?) p.(Pro223Arg) g.134222340C>G Copied from the Exome Variant Server AKR1B10_000064 54/13006 0/8600 54/4406
?/? c.673G>T r.(?) p.(Asp225Tyr) g.134222345G>T Copied from the Exome Variant Server AKR1B10_000065 1/13006 1/8600 0/4406
?/? c.676_678del r.(?) p.(Pro226del) g.134222348_134222350del Copied from the Exome Variant Server AKR1B10_000066 1/12518 1/8254 0/4264
?/? c.684G>A r.(=) p.(=) g.134222356G>A Copied from the Exome Variant Server AKR1B10_000067 1/13006 1/8600 0/4406
?/? c.735A>G r.(=) p.(=) g.134222407A>G Copied from the Exome Variant Server AKR1B10_000068 1/13006 1/8600 0/4406
?/? c.738C>T r.(=) p.(=) g.134222410C>T Copied from the Exome Variant Server AKR1B10_000069 82/13006 0/8600 82/4406
?/? c.741G>A r.(=) p.(=) g.134222413G>A Copied from the Exome Variant Server AKR1B10_000070 81/13006 0/8600 81/4406
?/? c.741+28C>G r.(=) p.(=) g.134222441C>G Copied from the Exome Variant Server AKR1B10_000071 10/13006 9/8600 1/4406
?/? c.741+33A>C r.(=) p.(=) g.134222446A>C Copied from the Exome Variant Server AKR1B10_000072 3/13006 2/8600 1/4406
?/? c.741+50T>G r.(=) p.(=) g.134222463T>G Copied from the Exome Variant Server AKR1B10_000073 2/13006 2/8600 0/4406
?/? c.742-48_742-47insG r.(=) p.(=) g.134222898_134222899insG Copied from the Exome Variant Server AKR1B10_000074 3/12518 0/8254 3/4264
?/? c.742-28G>A r.(=) p.(=) g.134222918G>A Copied from the Exome Variant Server AKR1B10_000075 1/13006 1/8600 0/4406
?/? c.742-6G>A r.(=) p.(=) g.134222940G>A Copied from the Exome Variant Server AKR1B10_000076 1/13006 1/8600 0/4406
?/? c.742-3T>C r.spl? p.? g.134222943T>C Copied from the Exome Variant Server AKR1B10_000077 2/13006 0/8600 2/4406
?/? c.752G>A r.(?) p.(Arg251His) g.134222956G>A Copied from the Exome Variant Server AKR1B10_000078 1/13006 1/8600 0/4406
?/? c.758A>G r.(?) p.(His253Arg) g.134222962A>G Copied from the Exome Variant Server AKR1B10_000079 2/13006 2/8600 0/4406
?/? c.759T>C r.(=) p.(=) g.134222963T>C Copied from the Exome Variant Server AKR1B10_000080 1/13006 0/8600 1/4406
?/? c.805C>G r.(?) p.(Arg269Gly) g.134223009C>G Copied from the Exome Variant Server AKR1B10_000081 5/13006 5/8600 0/4406
?/? c.806G>A r.(?) p.(Arg269His) g.134223010G>A Copied from the Exome Variant Server AKR1B10_000082 17/13006 10/8600 7/4406
?/? c.825+21C>G r.(=) p.(=) g.134223050C>G Copied from the Exome Variant Server AKR1B10_000083 29/13006 18/8600 11/4406
?/? c.825+22C>G r.(=) p.(=) g.134223051C>G Copied from the Exome Variant Server AKR1B10_000084 215/13006 145/8600 70/4406
?/? c.826-12C>T r.(=) p.(=) g.134223675C>T Copied from the Exome Variant Server AKR1B10_000085 2/13006 2/8600 0/4406
?/? c.826-8C>T r.(=) p.(=) g.134223679C>T Copied from the Exome Variant Server AKR1B10_000086 1/13006 0/8600 1/4406
?/? c.857T>C r.(?) p.(Met286Thr) g.134223718T>C Copied from the Exome Variant Server AKR1B10_000087 16/13006 8/8600 8/4406
?/? c.900C>T r.(=) p.(=) g.134223761C>T Copied from the Exome Variant Server AKR1B10_000088 1/13006 1/8600 0/4406
?/? c.901G>A r.(?) p.(Val301Met) g.134223762G>A Copied from the Exome Variant Server AKR1B10_000089 3/13006 2/8600 1/4406
?/? c.908+27C>T r.(=) p.(=) g.134223796C>T Copied from the Exome Variant Server AKR1B10_000090 1/13006 1/8600 0/4406
?/? c.909-22T>C r.(=) p.(=) g.134225777T>C Copied from the Exome Variant Server AKR1B10_000091 1/13006 1/8600 0/4406
?/? c.909-11C>T r.(=) p.(=) g.134225788C>T Copied from the Exome Variant Server AKR1B10_000092 9681/13006 6039/8600 3642/4406
?/? c.934T>A r.(?) p.(Phe312Ile) g.134225824T>A Copied from the Exome Variant Server AKR1B10_000093 1/13006 1/8600 0/4406
?/? c.937A>G r.(?) p.(Asn313Asp) g.134225827A>G Copied from the Exome Variant Server AKR1B10_000094 12181/13006 7842/8600 4339/4406
?/? c.*45G>A r.(=) p.(=) g.134225886G>A Copied from the Exome Variant Server AKR1B10_000095 148/13006 0/8600 148/4406
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