Full data view for gene ABCC2

Information The variants shown are described using the NM_000392.3 transcript reference sequence.

335 entries on 4 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-40T>C r.(=) p.(=) g.101542562T>C Copied from the Exome Variant Server ABCC2_000001 5/13006 0/8600 5/4406 - - - - - - -
?/? c.-38A>G r.(=) p.(=) g.101542564A>G Copied from the Exome Variant Server ABCC2_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-24C>T r.(=) p.(=) g.101542578C>T Copied from the Exome Variant Server ABCC2_000003 1979/13006 1708/8600 271/4406 - - - - - - -
?/? c.23C>T r.(?) p.(Ser8Phe) g.101542624C>T Copied from the Exome Variant Server ABCC2_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.33+13A>G r.(=) p.(=) g.101542647A>G Copied from the Exome Variant Server ABCC2_000005 4/13006 0/8600 4/4406 - - - - - - -
?/? c.34-50T>C r.(=) p.(=) g.101544315T>C Copied from the Exome Variant Server ABCC2_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.34-8G>A r.(=) p.(=) g.101544357G>A Copied from the Exome Variant Server ABCC2_000007 59/13006 2/8600 57/4406 - - - - - - -
?/? c.56C>T r.(?) p.(Pro19Leu) g.101544387C>T Copied from the Exome Variant Server ABCC2_000008 3/13006 3/8600 0/4406 - - - - - - -
?/? c.77G>A r.(?) p.(Cys26Tyr) g.101544408G>A Copied from the Exome Variant Server ABCC2_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.97G>T r.(?) p.(Val33Leu) g.101544428G>T Copied from the Exome Variant Server ABCC2_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.107C>T r.(?) p.(Pro36Leu) g.101544438C>T Copied from the Exome Variant Server ABCC2_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.116A>T N/A N/A g.101544447A>T Copied from the Exome Variant Server ABCC2_000012 12921/13006 8600/8600 4321/4406 - - - - - - -
?/? c.150C>T r.(=) p.(=) g.101544481C>T Copied from the Exome Variant Server ABCC2_000013 6/13006 6/8600 0/4406 - - - - - - -
?/? c.151G>A r.(?) p.(Val51Met) g.101544482G>A Copied from the Exome Variant Server ABCC2_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.159A>G r.(=) p.(=) g.101544490A>G Copied from the Exome Variant Server ABCC2_000015 18/13006 14/8600 4/4406 - - - - - - -
?/? c.169A>C r.(?) p.(Lys57Gln) g.101544500A>C Copied from the Exome Variant Server ABCC2_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.203A>C r.(?) p.(Lys68Thr) g.101544534A>C Copied from the Exome Variant Server ABCC2_000017 2/13006 2/8600 0/4406 - - - - - - -
?/? c.206A>C r.(?) p.(Gln69Pro) g.101544537A>C Copied from the Exome Variant Server ABCC2_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.214G>A r.(?) p.(Val72Ile) g.101551997G>A Copied from the Exome Variant Server ABCC2_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.221_223del r.(?) p.(Leu76del) g.101552004_101552006del Copied from the Exome Variant Server ABCC2_000020 18/12518 9/8254 9/4264 - - - - - - -
?/? c.258A>G r.(=) p.(=) g.101552041A>G Copied from the Exome Variant Server ABCC2_000021 17/13006 0/8600 17/4406 - - - - - - -
?/? c.316C>G r.(?) p.(Leu106Val) g.101552099C>G Copied from the Exome Variant Server ABCC2_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.333+22del r.(=) p.(=) g.101552138del Copied from the Exome Variant Server ABCC2_000023 5/12518 0/8254 5/4264 - - - - - - -
?/? c.333+25T>G r.(=) p.(=) g.101552141T>G Copied from the Exome Variant Server ABCC2_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.333+37C>G r.(=) p.(=) g.101552153C>G Copied from the Exome Variant Server ABCC2_000025 89/13006 79/8600 10/4406 - - - - - - -
?/? c.333+50C>T r.(=) p.(=) g.101552166C>T Copied from the Exome Variant Server ABCC2_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.334-49C>T r.(=) p.(=) g.101553259C>T Copied from the Exome Variant Server ABCC2_000028 4970/13006 3720/8600 1250/4406 - - - - - - -
?/? c.334-46G>A r.(=) p.(=) g.101553262G>A Copied from the Exome Variant Server ABCC2_000030 9/13006 7/8600 2/4406 - - - - - - -
?/? c.334-3C>T r.spl? p.? g.101553305C>T Copied from the Exome Variant Server ABCC2_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.339G>A r.(=) p.(=) g.101553313G>A Copied from the Exome Variant Server ABCC2_000035 7/13006 0/8600 7/4406 - - - - - - -
?/? c.351C>G r.(?) p.(Ile117Met) g.101553325C>G Copied from the Exome Variant Server ABCC2_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.368G>T r.(?) p.(Trp123Leu) g.101553342G>T Copied from the Exome Variant Server ABCC2_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.382A>T r.(?) p.(Asn128Tyr) g.101553356A>T Copied from the Exome Variant Server ABCC2_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.410T>G r.(?) p.(Ile137Ser) g.101553384T>G Copied from the Exome Variant Server ABCC2_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.417G>A r.(=) p.(=) g.101553391G>A Copied from the Exome Variant Server ABCC2_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.455G>A r.(?) p.(Arg152Gln) g.101553429G>A Copied from the Exome Variant Server ABCC2_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.461T>A r.(?) p.(Leu154His) g.101553435T>A Copied from the Exome Variant Server ABCC2_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.469-33G>C r.(=) p.(=) g.101553616G>C Copied from the Exome Variant Server ABCC2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.469-9T>C r.(=) p.(=) g.101553640T>C Copied from the Exome Variant Server ABCC2_000039 2/13006 0/8600 2/4406 - - - - - - -
?/? c.469-4A>G r.spl? p.? g.101553645A>G Copied from the Exome Variant Server ABCC2_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.475del r.(?) p.(Asn159Ilefs*4) g.101553655del Copied from the Exome Variant Server ABCC2_000041 310/12510 180/8248 130/4262 - - - - - - -
?/? c.476A>G r.(?) p.(Asn159Ser) g.101553656A>G Copied from the Exome Variant Server ABCC2_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.492C>T r.(=) p.(=) g.101553672C>T Copied from the Exome Variant Server ABCC2_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.517G>A r.(?) p.(Gly173Arg) g.101553697G>A Copied from the Exome Variant Server ABCC2_000044 2/13006 0/8600 2/4406 - - - - - - -
?/? c.519A>G r.(=) p.(=) g.101553699A>G Copied from the Exome Variant Server ABCC2_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.568T>C r.(?) p.(Ser190Pro) g.101553748T>C Copied from the Exome Variant Server ABCC2_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.573A>G r.(=) p.(=) g.101553753A>G Copied from the Exome Variant Server ABCC2_000047 2/13006 2/8600 0/4406 - - - - - - -
?/? c.576+1G>A r.spl? p.? g.101553757G>A Copied from the Exome Variant Server ABCC2_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.576+49T>A r.(=) p.(=) g.101553805T>A Copied from the Exome Variant Server ABCC2_000049 1/13000 0/8594 1/4406 - - - - - - -
?/? c.577-60G>C r.(=) p.(=) g.101554110G>C Copied from the Exome Variant Server ABCC2_000050 1/4566 1/3182 0/1384 - - - - - - -
?/? c.577-42G>A r.(=) p.(=) g.101554128G>A Copied from the Exome Variant Server ABCC2_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.577-24T>G r.(=) p.(=) g.101554146T>G Copied from the Exome Variant Server ABCC2_000052 6/13006 6/8600 0/4406 - - - - - - -
?/? c.577-20G>A r.(=) p.(=) g.101554150G>A Copied from the Exome Variant Server ABCC2_000053 113/13006 0/8600 113/4406 - - - - - - -
?/? c.577-19_577-18insT r.(=) p.(=) g.101554151_101554152insT Copied from the Exome Variant Server ABCC2_000054 2/12518 1/8254 1/4264 - - - - - - -
?/? c.577-11G>T r.(=) p.(=) g.101554159G>T Copied from the Exome Variant Server ABCC2_000055 5/13006 5/8600 0/4406 - - - - - - -
?/? c.632G>A r.(?) p.(Ser211Asn) g.101554225G>A Copied from the Exome Variant Server ABCC2_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.632+9G>A r.(=) p.(=) g.101554234G>A Copied from the Exome Variant Server ABCC2_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.633-30G>T r.(=) p.(=) g.101556824G>T Copied from the Exome Variant Server ABCC2_000058 150/13006 7/8600 143/4406 - - - - - - -
?/? c.633-23C>T r.(=) p.(=) g.101556831C>T Copied from the Exome Variant Server ABCC2_000059 2/13006 1/8600 1/4406 - - - - - - -
?/? c.633-14C>T r.(=) p.(=) g.101556840C>T Copied from the Exome Variant Server ABCC2_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.633-13G>A r.(=) p.(=) g.101556841G>A Copied from the Exome Variant Server ABCC2_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.656G>A r.(?) p.(Arg219His) g.101556877G>A Copied from the Exome Variant Server ABCC2_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.736A>C r.(?) p.(Met246Leu) g.101556957A>C Copied from the Exome Variant Server ABCC2_000063 4/13006 0/8600 4/4406 - - - - - - -
?/? c.745G>C r.(?) p.(Glu249Gln) g.101556966G>C Copied from the Exome Variant Server ABCC2_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.763C>T r.(?) p.(Arg255Trp) g.101556984C>T Copied from the Exome Variant Server ABCC2_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.764G>C r.(?) p.(Arg255Pro) g.101556985G>C Copied from the Exome Variant Server ABCC2_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.778C>T r.(?) p.(Arg260Trp) g.101556999C>T Copied from the Exome Variant Server ABCC2_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.779G>A r.(?) p.(Arg260Gln) g.101557000G>A Copied from the Exome Variant Server ABCC2_000068 2/13006 2/8600 0/4406 - - - - - - -
?/? c.817C>T r.(=) p.(=) g.101557038C>T Copied from the Exome Variant Server ABCC2_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.842G>A r.(?) p.(Ser281Asn) g.101557063G>A Copied from the Exome Variant Server ABCC2_000070 67/13006 60/8600 7/4406 - - - - - - -
?/? c.867+1G>A r.spl? p.? g.101557089G>A Copied from the Exome Variant Server ABCC2_000071 1/13004 1/8600 0/4404 - - - - - - -
?/? c.867+8T>C r.(=) p.(=) g.101557096T>C Copied from the Exome Variant Server ABCC2_000072 11/13004 0/8600 11/4404 - - - - - - -
?/? c.867+30G>A r.(=) p.(=) g.101557118G>A Copied from the Exome Variant Server ABCC2_000073 1/12996 0/8594 1/4402 - - - - - - -
?/? c.867+32G>A r.(=) p.(=) g.101557120G>A Copied from the Exome Variant Server ABCC2_000074 53/12996 49/8594 4/4402 - - - - - - -
?/? c.867+37A>G r.(=) p.(=) g.101557125A>G Copied from the Exome Variant Server ABCC2_000075 1/12994 1/8592 0/4402 - - - - - - -
?/? c.974C>G r.(?) p.(Ser325*) g.101559070C>G Copied from the Exome Variant Server ABCC2_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.993G>A r.(=) p.(=) g.101559089G>A Copied from the Exome Variant Server ABCC2_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.998A>G r.(?) p.(Asp333Gly) g.101559094A>G Copied from the Exome Variant Server ABCC2_000079 23/13006 0/8600 23/4406 - - - - - - -
?/? c.1007C>T r.(?) p.(Thr336Met) g.101559103C>T Copied from the Exome Variant Server ABCC2_000081 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1014G>T r.(=) p.(=) g.101559110G>T Copied from the Exome Variant Server ABCC2_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1031+4A>G r.spl? p.? g.101559131A>G Copied from the Exome Variant Server ABCC2_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1031+31A>C r.(=) p.(=) g.101559158A>C Copied from the Exome Variant Server ABCC2_000078 161/13006 8/8600 153/4406 - - - - - - -
?/? c.1031+34G>A r.(=) p.(=) g.101559161G>A Copied from the Exome Variant Server ABCC2_000080 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1031+40T>C r.(=) p.(=) g.101559167T>C Copied from the Exome Variant Server ABCC2_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1032-37C>A r.(=) p.(=) g.101560106C>A Copied from the Exome Variant Server ABCC2_000084 161/13006 8/8600 153/4406 - - - - - - -
?/? c.1032-3C>T r.spl? p.? g.101560140C>T Copied from the Exome Variant Server ABCC2_000086 41/13006 39/8600 2/4406 - - - - - - -
?/? c.1058G>A r.(?) p.(Arg353His) g.101560169G>A Copied from the Exome Variant Server ABCC2_000087 227/13006 1/8600 226/4406 - - - - - - -
?/? c.1109C>T r.(?) p.(Ala370Val) g.101560220C>T Copied from the Exome Variant Server ABCC2_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1149A>G r.(=) p.(=) g.101560260A>G Copied from the Exome Variant Server ABCC2_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1160A>G r.(?) p.(Lys387Arg) g.101560271A>G Copied from the Exome Variant Server ABCC2_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1209+14G>A r.(=) p.(=) g.101560334G>A Copied from the Exome Variant Server ABCC2_000091 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1209+17A>C r.(=) p.(=) g.101560337A>C Copied from the Exome Variant Server ABCC2_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1210-51C>T r.(=) p.(=) g.101563725C>T Copied from the Exome Variant Server ABCC2_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1210-26G>A r.(=) p.(=) g.101563750G>A Copied from the Exome Variant Server ABCC2_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1217C>G r.(?) p.(Thr406Ser) g.101563783C>G Copied from the Exome Variant Server ABCC2_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1219C>T r.(=) p.(=) g.101563785C>T Copied from the Exome Variant Server ABCC2_000096 108/13006 2/8600 106/4406 - - - - - - -
?/? c.1249G>A r.(?) p.(Val417Ile) g.101563815G>A Copied from the Exome Variant Server ABCC2_000097 2499/13006 1675/8600 824/4406 - - - - - - -
?/? c.1250T>C r.(?) p.(Val417Ala) g.101563816T>C Copied from the Exome Variant Server ABCC2_000098 6/13006 5/8600 1/4406 - - - - - - -
?/? c.1315C>T r.(?) p.(His439Tyr) g.101563881C>T Copied from the Exome Variant Server ABCC2_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1338A>G r.(=) p.(=) g.101563904A>G Copied from the Exome Variant Server ABCC2_000100 1/13006 1/8600 0/4406 - - - - - - -
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