NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val)
|
rs523349
|
0.71022
|
NM_000348.4(SRD5A2):c.281+15T>C
|
rs522638
|
0.68085
|
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)
|
rs9282858
|
0.02117
|
NM_000348.4(SRD5A2):c.548-18C>T
|
rs28383063
|
0.00290
|
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=)
|
rs28383064
|
0.00287
|
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val)
|
rs28383048
|
0.00188
|
NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys)
|
rs374399753
|
0.00075
|
NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr)
|
rs145712014
|
0.00063
|
NM_000348.4(SRD5A2):c.210G>A (p.Arg70=)
|
rs61750388
|
0.00054
|
NM_000348.4(SRD5A2):c.696T>C (p.His232=)
|
rs9332965
|
0.00018
|
NM_000348.4(SRD5A2):c.441C>T (p.Ser147=)
|
rs201018300
|
0.00017
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)
|
rs121434251
|
0.00016
|
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)
|
rs121434247
|
0.00015
|
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)
|
rs121434250
|
0.00015
|
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu)
|
rs9332966
|
0.00014
|
NM_000348.4(SRD5A2):c.281+20G>A
|
rs61750392
|
0.00012
|
NM_000348.4(SRD5A2):c.162C>T (p.Phe54=)
|
rs61748133
|
0.00009
|
NM_000348.4(SRD5A2):c.273C>T (p.Tyr91=)
|
rs61750390
|
0.00009
|
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)
|
rs368386747
|
0.00009
|
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)
|
rs9332967
|
0.00009
|
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)
|
rs121434252
|
0.00006
|
NM_000348.4(SRD5A2):c.331C>A (p.Leu111Ile)
|
rs200206626
|
0.00005
|
NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser)
|
rs767928056
|
0.00004
|
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)
|
rs121434248
|
0.00004
|
NM_000348.4(SRD5A2):c.111G>A (p.Thr37=)
|
rs781961035
|
0.00003
|
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu)
|
rs61748122
|
0.00003
|
NM_000348.4(SRD5A2):c.548-2A>C
|
rs61750397
|
0.00003
|
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)
|
rs763296857
|
0.00003
|
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp)
|
rs121434244
|
0.00003
|
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)
|
rs9332960
|
0.00002
|
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)
|
rs121434246
|
0.00002
|
NM_000348.4(SRD5A2):c.548-9T>G
|
rs1057519061
|
0.00002
|
NM_000348.4(SRD5A2):c.585C>T (p.Leu195=)
|
rs61750399
|
0.00002
|
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)
|
rs756853742
|
0.00002
|
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)
|
rs9332961
|
0.00002
|
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg)
|
rs748899308
|
0.00002
|
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg)
|
rs782032018
|
0.00001
|
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln)
|
rs750444774
|
0.00001
|
NM_000348.4(SRD5A2):c.183C>T (p.Phe61=)
|
rs61750385
|
0.00001
|
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter)
|
rs1060499834
|
0.00001
|
NM_000348.4(SRD5A2):c.281+11T>C
|
rs774959761
|
0.00001
|
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)
|
rs764433016
|
0.00001
|
NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu)
|
rs1057517829
|
0.00001
|
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp)
|
rs121434253
|
0.00001
|
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro)
|
rs761824859
|
0.00001
|
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp)
|
rs767564684
|
0.00001
|
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe)
|
rs772283403
|
0.00001
|
NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val)
|
rs1328422263
|
0.00001
|
NC_000002.11:g.(?_31598226)_(31805969_?)dup
|
|
|
NC_000002.11:g.(?_31751246)_(31805989_?)dup
|
|
|
NC_000002.11:g.(?_31751266)_(31751352_?)del
|
|
|
NC_000002.11:g.(?_31751266)_(31758856_?)del
|
|
|
NC_000002.12:g.(?_31531351)_(31531492_?)del
|
|
|
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg)
|
rs782032018
|
|
NM_000348.4(SRD5A2):c.102del (p.Lys35fs)
|
|
|
NM_000348.4(SRD5A2):c.111G>C (p.Thr37=)
|
|
|
NM_000348.4(SRD5A2):c.115_137del (p.Ser39fs)
|
|
|
NM_000348.4(SRD5A2):c.132T>A (p.Ala44=)
|
|
|
NM_000348.4(SRD5A2):c.139C>T (p.Leu47=)
|
|
|
NM_000348.4(SRD5A2):c.144del (p.Ala49fs)
|
|
|
NM_000348.4(SRD5A2):c.147C>T (p.Ala49=)
|
|
|
NM_000348.4(SRD5A2):c.153C>T (p.Ala51=)
|
|
|
NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter)
|
|
|
NM_000348.4(SRD5A2):c.15C>T (p.Cys5=)
|
|
|
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln)
|
rs121434245
|
|
NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg)
|
|
|
NM_000348.4(SRD5A2):c.172C>T (p.Leu58=)
|
|
|
NM_000348.4(SRD5A2):c.192C>G (p.Pro64=)
|
|
|
NM_000348.4(SRD5A2):c.192C>T (p.Pro64=)
|
|
|
NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro)
|
rs1186430097
|
|
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
|
|
|
NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter)
|
|
|
NM_000348.4(SRD5A2):c.21G>A (p.Gln7=)
|
rs2148107447
|
|
NM_000348.4(SRD5A2):c.228C>T (p.Phe76=)
|
|
|
NM_000348.4(SRD5A2):c.231G>A (p.Gly77=)
|
|
|
NM_000348.4(SRD5A2):c.243G>T (p.Thr81=)
|
|
|
NM_000348.4(SRD5A2):c.258C>G (p.Leu86=)
|
rs61750389
|
|
NM_000348.4(SRD5A2):c.25C>T (p.Pro9Ser)
|
rs868322910
|
|
NM_000348.4(SRD5A2):c.264_265delinsTG (p.Leu89Val)
|
|
|
NM_000348.4(SRD5A2):c.270T>C (p.His90=)
|
|
|
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)
|
rs201175894
|
|
NM_000348.4(SRD5A2):c.281+10T>C
|
|
|
NM_000348.4(SRD5A2):c.281+13C>A
|
|
|
NM_000348.4(SRD5A2):c.281+16del
|
|
|
NM_000348.4(SRD5A2):c.281+17G>A
|
|
|
NM_000348.4(SRD5A2):c.281+18C>A
|
|
|
NM_000348.4(SRD5A2):c.281+18C>T
|
|
|
NM_000348.4(SRD5A2):c.281+19G>A
|
|
|
NM_000348.4(SRD5A2):c.281+19G>C
|
|
|
NM_000348.4(SRD5A2):c.281+2T>C
|
|
|
NM_000348.4(SRD5A2):c.282-11G>A
|
|
|
NM_000348.4(SRD5A2):c.282-11G>T
|
|
|
NM_000348.4(SRD5A2):c.282-13C>T
|
|
|
NM_000348.4(SRD5A2):c.282-13del
|
|
|
NM_000348.4(SRD5A2):c.282-18C>A
|
|
|
NM_000348.4(SRD5A2):c.284C>T (p.Thr95Ile)
|
|
|
NM_000348.4(SRD5A2):c.303C>T (p.Leu101=)
|
|
|
NM_000348.4(SRD5A2):c.307C>A (p.Arg103=)
|
|
|
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter)
|
rs267599353
|
|
NM_000348.4(SRD5A2):c.312G>A (p.Gly104=)
|
|
|
NM_000348.4(SRD5A2):c.312del (p.Arg105fs)
|
|
|
NM_000348.4(SRD5A2):c.317del (p.Pro106fs)
|
rs767595335
|
|
NM_000348.4(SRD5A2):c.318T>C (p.Pro106=)
|
|
|
NM_000348.4(SRD5A2):c.321T>C (p.Tyr107=)
|
|
|
NM_000348.4(SRD5A2):c.333C>T (p.Leu111=)
|
|
|
NM_000348.4(SRD5A2):c.33G>A (p.Leu11=)
|
|
|
NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer)
|
rs2148066893
|
|
NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn)
|
|
|
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)
|
|
|
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp)
|
rs1553324169
|
|
NM_000348.4(SRD5A2):c.39C>A (p.Gly13=)
|
|
|
NM_000348.4(SRD5A2):c.402T>C (p.Ala134=)
|
|
|
NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys)
|
|
|
NM_000348.4(SRD5A2):c.408C>T (p.Tyr136=)
|
|
|
NM_000348.4(SRD5A2):c.418del (p.Trp140fs)
|
|
|
NM_000348.4(SRD5A2):c.431dup (p.Arg145fs)
|
|
|
NM_000348.4(SRD5A2):c.433C>T (p.Arg145Trp)
|
|
|
NM_000348.4(SRD5A2):c.442T>C (p.Leu148=)
|
|
|
NM_000348.4(SRD5A2):c.445+11C>T
|
|
|
NM_000348.4(SRD5A2):c.445+15C>G
|
|
|
NM_000348.4(SRD5A2):c.445+16del
|
|
|
NM_000348.4(SRD5A2):c.445+18C>A
|
|
|
NM_000348.4(SRD5A2):c.446-10_446-8del
|
rs758063160
|
|
NM_000348.4(SRD5A2):c.446-15C>G
|
|
|
NM_000348.4(SRD5A2):c.446-4C>T
|
|
|
NM_000348.4(SRD5A2):c.462T>C (p.Ile154=)
|
|
|
NM_000348.4(SRD5A2):c.480C>T (p.Asn160=)
|
|
|
NM_000348.4(SRD5A2):c.485A>C (p.His162Pro)
|
rs1665904910
|
|
NM_000348.4(SRD5A2):c.492_493insGA (p.Tyr165fs)
|
|
|
NM_000348.4(SRD5A2):c.504C>T (p.Arg168=)
|
|
|
NM_000348.4(SRD5A2):c.510C>T (p.Leu170=)
|
rs267599352
|
|
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)
|
|
|
NM_000348.4(SRD5A2):c.531C>T (p.Ser177=)
|
|
|
NM_000348.4(SRD5A2):c.535A>C (p.Arg179=)
|
|
|
NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)
|
|
|
NM_000348.4(SRD5A2):c.547+11C>G
|
|
|
NM_000348.4(SRD5A2):c.547+16C>A
|
|
|
NM_000348.4(SRD5A2):c.547+17C>T
|
|
|
NM_000348.4(SRD5A2):c.547+19C>G
|
|
|
NM_000348.4(SRD5A2):c.547+19C>T
|
|
|
NM_000348.4(SRD5A2):c.547+1G>C
|
|
|
NM_000348.4(SRD5A2):c.548-13C>T
|
rs563086989
|
|
NM_000348.4(SRD5A2):c.548-4G>A
|
rs763759170
|
|
NM_000348.4(SRD5A2):c.548-5C>T
|
|
|
NM_000348.4(SRD5A2):c.548-6A>C
|
|
|
NM_000348.4(SRD5A2):c.548-6A>T
|
|
|
NM_000348.4(SRD5A2):c.548-8G>C
|
|
|
NM_000348.4(SRD5A2):c.54C>T (p.Val18=)
|
|
|
NM_000348.4(SRD5A2):c.561G>A (p.Thr187=)
|
|
|
NM_000348.4(SRD5A2):c.561G>C (p.Thr187=)
|
|
|
NM_000348.4(SRD5A2):c.564del (p.Thr187_Tyr188insTer)
|
|
|
NM_000348.4(SRD5A2):c.571G>A (p.Gly191Arg)
|
|
|
NM_000348.4(SRD5A2):c.588T>G (p.Gly196=)
|
|
|
NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter)
|
|
|
NM_000348.4(SRD5A2):c.614C>A (p.Ala205Asp)
|
|
|
NM_000348.4(SRD5A2):c.615C>T (p.Ala205=)
|
|
|
NM_000348.4(SRD5A2):c.61G>C (p.Gly21Arg)
|
rs1265216982
|
|
NM_000348.4(SRD5A2):c.621C>T (p.Ala207=)
|
|
|
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile)
|
rs759318152
|
|
NM_000348.4(SRD5A2):c.630C>T (p.Ser210=)
|
|
|
NM_000348.4(SRD5A2):c.636A>G (p.Pro212=)
|
|
|
NM_000348.4(SRD5A2):c.656del (p.Phe219fs)
|
rs61748127
|
|
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)
|
|
|
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)
|
rs121434249
|
|
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val)
|
rs1553323488
|
|
NM_000348.4(SRD5A2):c.687T>C (p.Phe229=)
|
|
|
NM_000348.4(SRD5A2):c.687del (p.His230fs)
|
|
|
NM_000348.4(SRD5A2):c.689A>C (p.His230Pro)
|
|
|
NM_000348.4(SRD5A2):c.698+1G>T
|
|
|
NM_000348.4(SRD5A2):c.698+20C>T
|
|
|
NM_000348.4(SRD5A2):c.698+7T>G
|
|
|
NM_000348.4(SRD5A2):c.699-15T>C
|
|
|
NM_000348.4(SRD5A2):c.699-18T>C
|
|
|
NM_000348.4(SRD5A2):c.699-20A>G
|
|
|
NM_000348.4(SRD5A2):c.705C>T (p.Tyr235=)
|
|
|
NM_000348.4(SRD5A2):c.72C>G (p.Ala24=)
|
|
|
NM_000348.4(SRD5A2):c.747T>A (p.Leu249=)
|
|
|
NM_000348.4(SRD5A2):c.75G>A (p.Leu25=)
|
|
|
NM_000348.4(SRD5A2):c.78C>T (p.Tyr26=)
|
|
|
NM_000348.4(SRD5A2):c.81C>G (p.Val27=)
|
|
|
NM_000348.4(SRD5A2):c.81C>T (p.Val27=)
|
|
|
NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs)
|
|
|
NM_000348.4(SRD5A2):c.82_88del (p.Ala28fs)
|
|
|
NM_000348.4(SRD5A2):c.84G>A (p.Ala28=)
|
|
|
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs)
|
rs142200057
|
|
NM_000348.4(SRD5A2):c.92C>T (p.Ser31Phe)
|
|
|
NM_000348.4(SRD5A2):c.93C>T (p.Ser31=)
|
|
|
NM_000348.4(SRD5A2):c.94G>A (p.Gly32Ser)
|
|
|
NM_000348.4(SRD5A2):c.96C>A (p.Gly32=)
|
|
|
NM_000348.4(SRD5A2):c.99C>T (p.Tyr33=)
|
|
|