All transcript variants in gene AKR1C3

Information The variants shown are described using the NM_003739.5 transcript reference sequence.

113 entries on 2 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.-34A>G r.(=) p.(=) g.5136603A>G Copied from the Exome Variant Server AKR1C3_000001 1/13004 1/8598 0/4406
?/? c.-5A>C r.(=) p.(=) g.5136632A>C Copied from the Exome Variant Server AKR1C3_000002 3/13004 2/8598 1/4406
?/? c.15C>G r.(?) p.(His5Gln) g.5136651C>G Copied from the Exome Variant Server AKR1C3_000003 5592/13004 3546/8598 2046/4406
?/? c.18G>C r.(?) p.(Gln6His) g.5136654G>C Copied from the Exome Variant Server AKR1C3_000004 1/13004 1/8598 0/4406
?/? c.84+19A>G r.(=) p.(=) g.5136739A>G Copied from the Exome Variant Server AKR1C3_000005 2/13004 2/8598 0/4406
?/? c.84+32C>G r.(=) p.(=) g.5136752C>G Copied from the Exome Variant Server AKR1C3_000007 3/13004 0/8598 3/4406
?/? c.84+44C>T r.(=) p.(=) g.5136764C>T Copied from the Exome Variant Server AKR1C3_000009 1/13004 1/8598 0/4406
?/? c.85-44C>T r.(=) p.(=) g.5138558C>T Copied from the Exome Variant Server AKR1C3_000011 2/13004 2/8598 0/4406
?/? c.85-41C>A r.(=) p.(=) g.5138561C>A Copied from the Exome Variant Server AKR1C3_000013 1/13004 1/8598 0/4406
?/? c.85-39A>G r.(=) p.(=) g.5138563A>G Copied from the Exome Variant Server AKR1C3_000015 6/13004 5/8598 1/4406
?/? c.85-24_85-23insA r.(=) p.(=) g.5138578_5138579insA Copied from the Exome Variant Server AKR1C3_000016 4/12516 0/8252 4/4264
?/? c.85-21T>C r.(=) p.(=) g.5138581T>C Copied from the Exome Variant Server AKR1C3_000019 2/13004 0/8598 2/4406
?/? c.89C>T r.(?) p.(Pro30Leu) g.5138606C>T Copied from the Exome Variant Server AKR1C3_000020 1/13004 1/8598 0/4406
?/? c.90G>A r.(=) p.(=) g.5138607G>A Copied from the Exome Variant Server AKR1C3_000022 4526/13004 3041/8598 1485/4406
?/? c.108G>T r.(?) p.(Glu36Asp) g.5138625G>T Copied from the Exome Variant Server AKR1C3_000025 1/13004 0/8598 1/4406
?/? c.139C>T r.(?) p.(Arg47Cys) g.5138656C>T Copied from the Exome Variant Server AKR1C3_000028 1/13006 0/8600 1/4406
?/? c.154G>C r.(?) p.(Ala52Pro) g.5138671G>C Copied from the Exome Variant Server AKR1C3_000006 1/13006 1/8600 0/4406
?/? c.155C>G r.(?) p.(Ala52Gly) g.5138672C>G Copied from the Exome Variant Server AKR1C3_000008 4/13006 4/8600 0/4406
?/? c.175G>A r.(?) p.(Glu59Lys) g.5138692G>A Copied from the Exome Variant Server AKR1C3_000010 12/13006 0/8600 12/4406
?/? c.186A>G r.(=) p.(=) g.5138703A>G Copied from the Exome Variant Server AKR1C3_000012 119/13006 0/8600 119/4406
?/? c.192C>T r.(=) p.(=) g.5138709C>T Copied from the Exome Variant Server AKR1C3_000014 1/13002 1/8596 0/4406
?/? c.197G>A r.(?) p.(Arg66Gln) g.5138714G>A Copied from the Exome Variant Server AKR1C3_000017 323/13000 4/8594 319/4406
?/? c.227_229del r.(?) p.(Arg76_Glu77delinsLys) g.5138744_5138746del Copied from the Exome Variant Server AKR1C3_000018 1/12516 1/8252 0/4264
?/? c.230A>G r.(?) p.(Glu77Gly) g.5138747A>G Copied from the Exome Variant Server AKR1C3_000021 654/13002 543/8596 111/4406
?/? c.234C>G r.(?) p.(Asp78Glu) g.5138751C>G Copied from the Exome Variant Server AKR1C3_000023 1/13006 1/8600 0/4406
?/? c.252+12A>G r.(=) p.(=) g.5138781A>G Copied from the Exome Variant Server AKR1C3_000027 27/13006 0/8600 27/4406
?/? c.252+27G>A r.(=) p.(=) g.5138796G>A Copied from the Exome Variant Server AKR1C3_000029 1/13006 0/8600 1/4406
?/? c.252+35A>G r.(=) p.(=) g.5138804A>G Copied from the Exome Variant Server AKR1C3_000031 1/13006 1/8600 0/4406
?/? c.252+50G>A r.(=) p.(=) g.5138819G>A Copied from the Exome Variant Server AKR1C3_000033 1/13006 0/8600 1/4406
?/? c.253-51G>T r.(=) p.(=) g.5139575G>T Copied from the Exome Variant Server AKR1C3_000035 7/13006 0/8600 7/4406
?/? c.253C>T r.(?) p.(Leu85Phe) g.5139626C>T Copied from the Exome Variant Server AKR1C3_000037 3/13006 0/8600 3/4406
?/? c.269A>G r.(?) p.(His90Arg) g.5139642A>G Copied from the Exome Variant Server AKR1C3_000039 5/13006 5/8600 0/4406
?/? c.271C>T r.(?) p.(Arg91*) g.5139644C>T Copied from the Exome Variant Server AKR1C3_000041 6/13006 5/8600 1/4406
?/? c.312G>A r.(=) p.(=) g.5139685G>A Copied from the Exome Variant Server AKR1C3_000043 10965/13006 7136/8600 3829/4406
?/? c.321A>G r.(=) p.(=) g.5139694A>G Copied from the Exome Variant Server AKR1C3_000045 8/13006 6/8600 2/4406
?/? c.332T>A r.(?) p.(Val111Asp) g.5139705T>A Copied from the Exome Variant Server AKR1C3_000047 1/13006 1/8600 0/4406
?/? c.369+3A>G r.spl? p.? g.5139745A>G Copied from the Exome Variant Server AKR1C3_000049 4/13006 0/8600 4/4406
?/? c.369+14A>G r.(=) p.(=) g.5139756A>G Copied from the Exome Variant Server AKR1C3_000051 1/13006 1/8600 0/4406
?/? c.369+30G>A r.(=) p.(=) g.5139772G>A Copied from the Exome Variant Server AKR1C3_000053 1/13006 0/8600 1/4406
?/? c.370-44G>A r.(=) p.(=) g.5140950G>A Copied from the Exome Variant Server AKR1C3_000055 1/13006 1/8600 0/4406
?/? c.370-36T>C r.(=) p.(=) g.5140958T>C Copied from the Exome Variant Server AKR1C3_000057 1/13006 1/8600 0/4406
?/? c.370-35T>C r.(=) p.(=) g.5140959T>C Copied from the Exome Variant Server AKR1C3_000024 4/13006 4/8600 0/4406
?/? c.370-14T>C r.(=) p.(=) g.5140980T>C Copied from the Exome Variant Server AKR1C3_000026 802/13006 550/8600 252/4406
?/? c.370-12C>T r.(=) p.(=) g.5140982C>T Copied from the Exome Variant Server AKR1C3_000030 1/13006 1/8600 0/4406
?/? c.374G>A r.(?) p.(Gly125Asp) g.5140998G>A Copied from the Exome Variant Server AKR1C3_000032 1/13006 1/8600 0/4406
?/? c.408A>G r.(=) p.(=) g.5141032A>G Copied from the Exome Variant Server AKR1C3_000034 1/13006 1/8600 0/4406
?/? c.426G>A r.(=) p.(=) g.5141050G>A Copied from the Exome Variant Server AKR1C3_000036 1/13006 1/8600 0/4406
?/? c.447+13C>T r.(=) p.(=) g.5141084C>T Copied from the Exome Variant Server AKR1C3_000038 142/13006 0/8600 142/4406
?/? c.447+14G>A r.(=) p.(=) g.5141085G>A Copied from the Exome Variant Server AKR1C3_000040 1/13006 0/8600 1/4406
?/? c.447+20G>A r.(=) p.(=) g.5141091G>A Copied from the Exome Variant Server AKR1C3_000042 3/13006 0/8600 3/4406
?/? c.447+25A>T r.(=) p.(=) g.5141096A>T Copied from the Exome Variant Server AKR1C3_000044 5/13006 5/8600 0/4406
?/? c.447+50_447+51del r.(=) p.(=) g.5141121_5141122del Copied from the Exome Variant Server AKR1C3_000046 2/12518 0/8254 2/4264
?/? c.448-22C>T r.(=) p.(=) g.5141497C>T Copied from the Exome Variant Server AKR1C3_000048 4/13006 3/8600 1/4406
?/? c.448-14C>T r.(=) p.(=) g.5141505C>T Copied from the Exome Variant Server AKR1C3_000050 3/13006 0/8600 3/4406
?/? c.459G>A r.(=) p.(=) g.5141530G>A Copied from the Exome Variant Server AKR1C3_000052 275/13006 1/8600 274/4406
?/? c.470C>A r.(?) p.(Ala157Glu) g.5141541C>A Copied from the Exome Variant Server AKR1C3_000054 1/13006 1/8600 0/4406
?/? c.479C>G r.(?) p.(Ala160Gly) g.5141550C>G Copied from the Exome Variant Server AKR1C3_000056 1/13006 1/8600 0/4406
?/? c.508C>T r.(?) p.(Arg170Cys) g.5141579C>T Copied from the Exome Variant Server AKR1C3_000058 7/13006 1/8600 6/4406
?/? c.512G>T r.(?) p.(Arg171Met) g.5141583G>T Copied from the Exome Variant Server AKR1C3_000059 1/13006 1/8600 0/4406
?/? c.533A>G r.(?) p.(Asn178Ser) g.5141604A>G Copied from the Exome Variant Server AKR1C3_000060 2/13006 0/8600 2/4406
?/? c.538C>T r.(?) p.(Pro180Ser) g.5141609C>T Copied from the Exome Variant Server AKR1C3_000061 152/13006 134/8600 18/4406
?/? c.548A>T r.(?) p.(Lys183Met) g.5141619A>T Copied from the Exome Variant Server AKR1C3_000062 51/13006 1/8600 50/4406
?/? c.561C>G r.(=) p.(=) g.5141632C>G Copied from the Exome Variant Server AKR1C3_000063 2/13006 0/8600 2/4406
?/? c.568C>T r.(?) p.(Gln190*) g.5141639C>T Copied from the Exome Variant Server AKR1C3_000064 31/13006 2/8600 29/4406
?/? c.570+1G>A r.spl? p.? g.5141642G>A Copied from the Exome Variant Server AKR1C3_000065 27/13006 0/8600 27/4406
?/? c.570+3G>A r.spl? p.? g.5141644G>A Copied from the Exome Variant Server AKR1C3_000066 1/13006 1/8600 0/4406
?/? c.570+21C>G r.(=) p.(=) g.5141662C>G Copied from the Exome Variant Server AKR1C3_000067 1/13006 1/8600 0/4406
?/? c.570+28C>T r.(=) p.(=) g.5141669C>T Copied from the Exome Variant Server AKR1C3_000068 2/13006 2/8600 0/4406
?/? c.571-12G>A r.(=) p.(=) g.5144281G>A Copied from the Exome Variant Server AKR1C3_000069 1/13006 1/8600 0/4406
?/? c.584C>T r.(?) p.(Pro195Leu) g.5144306C>T Copied from the Exome Variant Server AKR1C3_000070 2/13006 2/8600 0/4406
?/? c.595C>T r.(?) p.(Arg199Trp) g.5144317C>T Copied from the Exome Variant Server AKR1C3_000071 1/13006 0/8600 1/4406
?/? c.596G>A r.(?) p.(Arg199Gln) g.5144318G>A Copied from the Exome Variant Server AKR1C3_000072 2/13006 1/8600 1/4406
?/? c.597G>C r.(=) p.(=) g.5144319G>C Copied from the Exome Variant Server AKR1C3_000073 1/13006 0/8600 1/4406
?/? c.607C>T r.(=) p.(=) g.5144329C>T Copied from the Exome Variant Server AKR1C3_000074 1/13006 1/8600 0/4406
?/? c.614_615insA r.(?) p.(Phe205Leufs*13) g.5144336_5144337insA Copied from the Exome Variant Server AKR1C3_000075 16/12518 0/8254 16/4264
?/? c.623C>T r.(?) p.(Ser208Leu) g.5144345C>T Copied from the Exome Variant Server AKR1C3_000076 5/13006 1/8600 4/4406
?/? c.624G>T r.(=) p.(=) g.5144346G>T Copied from the Exome Variant Server AKR1C3_000077 1/13006 1/8600 0/4406
?/? c.636T>C r.(=) p.(=) g.5144358T>C Copied from the Exome Variant Server AKR1C3_000078 1/13006 1/8600 0/4406
?/? c.680+5T>C r.spl? p.? g.5144407T>C Copied from the Exome Variant Server AKR1C3_000079 1/13006 1/8600 0/4406
?/? c.680+8A>G r.(=) p.(=) g.5144410A>G Copied from the Exome Variant Server AKR1C3_000080 1/13006 0/8600 1/4406
?/? c.680+26A>G r.(=) p.(=) g.5144428A>G Copied from the Exome Variant Server AKR1C3_000081 1/13006 1/8600 0/4406
?/? c.680+42C>T r.(=) p.(=) g.5144444C>T Copied from the Exome Variant Server AKR1C3_000083 1/13006 1/8600 0/4406
?/? c.681-28G>A r.(=) p.(=) g.5144649G>A Copied from the Exome Variant Server AKR1C3_000085 2/12808 0/8478 2/4330
?/? c.704T>C r.(?) p.(Leu235Pro) g.5144700T>C Copied from the Exome Variant Server AKR1C3_000087 1/12636 1/8418 0/4218
?/? c.735del r.(?) p.(Lys247Serfs*8) g.5144731del Copied from the Exome Variant Server AKR1C3_000089 62/9734 43/6494 19/3240
?/? c.772C>T r.(?) p.(Arg258Cys) g.5144768C>T Copied from the Exome Variant Server AKR1C3_000091 12/12328 9/8208 3/4120
?/? c.810G>T r.(?) p.(Lys270Asn) g.5144806G>T Copied from the Exome Variant Server AKR1C3_000093 1/12814 1/8464 0/4350
?/? c.818A>G r.(?) p.(Asn273Ser) g.5144814A>G Copied from the Exome Variant Server AKR1C3_000095 2/12836 1/8476 1/4360
?/? c.826C>T r.(?) p.(Arg276Cys) g.5144822C>T Copied from the Exome Variant Server AKR1C3_000097 2/12850 2/8486 0/4364
?/? c.846+51C>A r.(=) p.(=) g.5144893C>A Copied from the Exome Variant Server AKR1C3_000099 174/12632 2/8376 172/4256
?/? c.847-22_847-21del r.(=) p.(=) g.5147765_5147766del Copied from the Exome Variant Server AKR1C3_000101 15/12510 10/8250 5/4260
?/? c.847-17del r.(=) p.(=) g.5147770del Copied from the Exome Variant Server AKR1C3_000082 10/12512 5/8250 5/4262
?/? c.847-16T>A r.(=) p.(=) g.5147771T>A Copied from the Exome Variant Server AKR1C3_000084 1/13004 0/8598 1/4406
?/? c.868G>A r.(?) p.(Ala290Thr) g.5147808G>A Copied from the Exome Variant Server AKR1C3_000086 1/13006 1/8600 0/4406
?/? c.869C>T r.(?) p.(Ala290Val) g.5147809C>T Copied from the Exome Variant Server AKR1C3_000088 12/13006 3/8600 9/4406
?/? c.895C>A r.(?) p.(Leu299Ile) g.5147835C>A Copied from the Exome Variant Server AKR1C3_000090 1/13006 1/8600 0/4406
?/? c.897A>C r.(=) p.(=) g.5147837A>C Copied from the Exome Variant Server AKR1C3_000092 1/13006 1/8600 0/4406
?/? c.900C>T r.(=) p.(=) g.5147840C>T Copied from the Exome Variant Server AKR1C3_000094 7/13006 0/8600 7/4406
?/? c.929G>C r.(?) p.(Ser310Thr) g.5147869G>C Copied from the Exome Variant Server AKR1C3_000096 8/13006 0/8600 8/4406
?/? c.929+40G>A r.(=) p.(=) g.5147909G>A Copied from the Exome Variant Server AKR1C3_000098 7918/13006 5094/8600 2824/4406
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