NM_012200.4(B3GAT3):c.258-50A>G
|
rs4963224
|
0.99405
|
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)
|
rs112223093
|
0.00560
|
NM_012200.4(B3GAT3):c.930G>A (p.Arg310=)
|
rs147883248
|
0.00148
|
NM_012200.4(B3GAT3):c.909+263del
|
rs753764477
|
0.00129
|
NM_012200.4(B3GAT3):c.709G>A (p.Val237Met)
|
rs140378202
|
0.00106
|
NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu)
|
rs140755387
|
0.00102
|
NM_012200.4(B3GAT3):c.108C>T (p.Pro36=)
|
rs75316688
|
0.00056
|
NM_012200.4(B3GAT3):c.906T>G (p.Thr302=)
|
rs111242496
|
0.00048
|
NM_012200.4(B3GAT3):c.741G>A (p.Arg247=)
|
rs151230659
|
0.00039
|
NM_012200.4(B3GAT3):c.167C>T (p.Ala56Val)
|
rs147526003
|
0.00025
|
NM_012200.4(B3GAT3):c.772G>A (p.Val258Met)
|
rs200860039
|
0.00016
|
NM_012200.4(B3GAT3):c.213C>T (p.Pro71=)
|
rs143334227
|
0.00015
|
NM_012200.4(B3GAT3):c.866T>C (p.Val289Ala)
|
rs147681657
|
0.00014
|
NM_012200.4(B3GAT3):c.619-6C>T
|
rs374836093
|
0.00012
|
NM_012200.4(B3GAT3):c.277C>T (p.Leu93=)
|
rs201779956
|
0.00009
|
NM_012200.4(B3GAT3):c.176G>A (p.Arg59Gln)
|
rs764609129
|
0.00008
|
NM_012200.4(B3GAT3):c.910-3C>T
|
rs201387537
|
0.00008
|
NM_012200.4(B3GAT3):c.43G>C (p.Val15Leu)
|
rs150651989
|
0.00007
|
NM_012200.4(B3GAT3):c.284G>A (p.Arg95Gln)
|
rs144327434
|
0.00006
|
NM_012200.4(B3GAT3):c.32C>T (p.Ala11Val)
|
rs568826131
|
0.00006
|
NM_012200.4(B3GAT3):c.436C>T (p.Arg146Trp)
|
rs566214939
|
0.00006
|
NM_012200.4(B3GAT3):c.104C>T (p.Pro35Leu)
|
rs762438326
|
0.00004
|
NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter)
|
rs535206047
|
0.00004
|
NM_012200.4(B3GAT3):c.243C>T (p.Thr81=)
|
rs148344427
|
0.00004
|
NM_012200.4(B3GAT3):c.257+17A>G
|
rs371334246
|
0.00004
|
NM_012200.4(B3GAT3):c.258-9C>T
|
rs748591469
|
0.00004
|
NM_012200.4(B3GAT3):c.345G>A (p.Glu115=)
|
rs770392291
|
0.00004
|
NM_012200.4(B3GAT3):c.462T>C (p.His154=)
|
rs144675523
|
0.00004
|
NM_012200.4(B3GAT3):c.567C>T (p.Val189=)
|
rs539002462
|
0.00004
|
NM_012200.4(B3GAT3):c.618+16G>A
|
rs529772553
|
0.00004
|
NM_012200.4(B3GAT3):c.666C>T (p.Gly222=)
|
rs752300927
|
0.00004
|
NM_012200.4(B3GAT3):c.810A>G (p.Gln270=)
|
rs778465046
|
0.00004
|
NM_012200.4(B3GAT3):c.971G>A (p.Arg324Gln)
|
rs369154163
|
0.00004
|
NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln)
|
rs569989507
|
0.00004
|
NM_012200.4(B3GAT3):c.506G>A (p.Arg169Gln)
|
rs371091579
|
0.00003
|
NM_012200.4(B3GAT3):c.57C>T (p.Gly19=)
|
rs762351057
|
0.00003
|
NM_012200.4(B3GAT3):c.632G>A (p.Arg211His)
|
rs562657438
|
0.00003
|
NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter)
|
rs377340567
|
0.00003
|
NM_012200.4(B3GAT3):c.806C>T (p.Ala269Val)
|
rs199543524
|
0.00003
|
NM_012200.4(B3GAT3):c.909+20C>T
|
rs370750742
|
0.00003
|
NM_012200.4(B3GAT3):c.909G>T (p.Arg303=)
|
rs1278193764
|
0.00003
|
NM_012200.4(B3GAT3):c.998T>C (p.Ile333Thr)
|
rs763747195
|
0.00003
|
NM_012200.4(B3GAT3):c.168G>A (p.Ala56=)
|
rs555145931
|
0.00002
|
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu)
|
rs139759238
|
0.00002
|
NM_012200.4(B3GAT3):c.290C>T (p.Ser97Phe)
|
rs576173736
|
0.00002
|
NM_012200.4(B3GAT3):c.2T>C (p.Met1Thr)
|
rs772496010
|
0.00002
|
NM_012200.4(B3GAT3):c.582C>T (p.Asp194=)
|
rs200186699
|
0.00002
|
NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln)
|
rs758179182
|
0.00002
|
NM_012200.4(B3GAT3):c.716T>A (p.Phe239Tyr)
|
rs1436330448
|
0.00002
|
NM_012200.4(B3GAT3):c.1000G>A (p.Glu334Lys)
|
rs762837360
|
0.00001
|
NM_012200.4(B3GAT3):c.17A>G (p.Lys6Arg)
|
rs1428973034
|
0.00001
|
NM_012200.4(B3GAT3):c.184C>T (p.Pro62Ser)
|
rs765444124
|
0.00001
|
NM_012200.4(B3GAT3):c.245C>T (p.Pro82Leu)
|
rs755601885
|
0.00001
|
NM_012200.4(B3GAT3):c.253G>A (p.Ala85Thr)
|
rs1438535552
|
0.00001
|
NM_012200.4(B3GAT3):c.257+20C>G
|
rs755306273
|
0.00001
|
NM_012200.4(B3GAT3):c.259C>T (p.Leu87=)
|
rs755343748
|
0.00001
|
NM_012200.4(B3GAT3):c.285A>G (p.Arg95=)
|
rs777849239
|
0.00001
|
NM_012200.4(B3GAT3):c.356C>T (p.Pro119Leu)
|
rs746566185
|
0.00001
|
NM_012200.4(B3GAT3):c.416C>T (p.Thr139Met)
|
rs1327941900
|
0.00001
|
NM_012200.4(B3GAT3):c.467G>A (p.Arg156His)
|
rs1215648192
|
0.00001
|
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp)
|
rs765246909
|
0.00001
|
NM_012200.4(B3GAT3):c.486C>T (p.Asn162=)
|
rs753696345
|
0.00001
|
NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp)
|
rs766019547
|
0.00001
|
NM_012200.4(B3GAT3):c.526G>A (p.Gly176Ser)
|
rs1282350838
|
0.00001
|
NM_012200.4(B3GAT3):c.568G>A (p.Val190Ile)
|
rs373463855
|
0.00001
|
NM_012200.4(B3GAT3):c.593C>T (p.Thr198Ile)
|
rs753781915
|
0.00001
|
NM_012200.4(B3GAT3):c.619-11A>G
|
rs1255882397
|
0.00001
|
NM_012200.4(B3GAT3):c.619-12G>A
|
rs372473452
|
0.00001
|
NM_012200.4(B3GAT3):c.619-1G>A
|
rs895774521
|
0.00001
|
NM_012200.4(B3GAT3):c.678C>T (p.Phe226=)
|
rs761473599
|
0.00001
|
NM_012200.4(B3GAT3):c.69G>T (p.Ala23=)
|
rs368059446
|
0.00001
|
NM_012200.4(B3GAT3):c.743C>G (p.Pro248Arg)
|
rs751979169
|
0.00001
|
NM_012200.4(B3GAT3):c.771C>T (p.Ala257=)
|
rs776598325
|
0.00001
|
NM_012200.4(B3GAT3):c.822C>T (p.Thr274=)
|
rs376057557
|
0.00001
|
NM_012200.4(B3GAT3):c.846C>T (p.Ser282=)
|
rs1367274361
|
0.00001
|
NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp)
|
rs759636773
|
0.00001
|
NM_012200.4(B3GAT3):c.910-7G>A
|
rs778227646
|
0.00001
|
NM_012200.4(B3GAT3):c.1006T>G (p.Ter336Gly)
|
|
|
NM_012200.4(B3GAT3):c.106C>A (p.Pro36Thr)
|
rs375817456
|
|
NM_012200.4(B3GAT3):c.11A>G (p.Lys4Arg)
|
|
|
NM_012200.4(B3GAT3):c.123C>T (p.Ala41=)
|
|
|
NM_012200.4(B3GAT3):c.126G>C (p.Glu42Asp)
|
rs1188079745
|
|
NM_012200.4(B3GAT3):c.126_154dup (p.Ser52delinsCysSerTyrGlyArgArgIleTer)
|
|
|
NM_012200.4(B3GAT3):c.134G>A (p.Arg45Gln)
|
rs139875377
|
|
NM_012200.4(B3GAT3):c.134G>T (p.Arg45Leu)
|
|
|
NM_012200.4(B3GAT3):c.135del (p.Gln46fs)
|
|
|
NM_012200.4(B3GAT3):c.150del (p.Ile51fs)
|
|
|
NM_012200.4(B3GAT3):c.162G>T (p.Leu54=)
|
|
|
NM_012200.4(B3GAT3):c.178C>G (p.Arg60Gly)
|
|
|
NM_012200.4(B3GAT3):c.1A>G (p.Met1Val)
|
|
|
NM_012200.4(B3GAT3):c.202C>G (p.Pro68Ala)
|
|
|
NM_012200.4(B3GAT3):c.202C>T (p.Pro68Ser)
|
rs200817074
|
|
NM_012200.4(B3GAT3):c.211C>G (p.Pro71Ala)
|
|
|
NM_012200.4(B3GAT3):c.229A>G (p.Ile77Val)
|
|
|
NM_012200.4(B3GAT3):c.237T>C (p.Val79=)
|
|
|
NM_012200.4(B3GAT3):c.240T>C (p.Val80=)
|
|
|
NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser)
|
rs1590779613
|
|
NM_012200.4(B3GAT3):c.24G>A (p.Val8=)
|
|
|
NM_012200.4(B3GAT3):c.258-20G>A
|
rs2134430962
|
|
NM_012200.4(B3GAT3):c.279G>A (p.Leu93=)
|
|
|
NM_012200.4(B3GAT3):c.283C>T (p.Arg95Ter)
|
rs750685646
|
|
NM_012200.4(B3GAT3):c.298_301del (p.Leu100fs)
|
|
|
NM_012200.4(B3GAT3):c.300G>A (p.Leu100=)
|
|
|
NM_012200.4(B3GAT3):c.302G>C (p.Ser101Thr)
|
rs563591823
|
|
NM_012200.4(B3GAT3):c.303C>T (p.Ser101=)
|
|
|
NM_012200.4(B3GAT3):c.313C>T (p.Arg105Trp)
|
|
|
NM_012200.4(B3GAT3):c.31G>A (p.Ala11Thr)
|
rs1436324851
|
|
NM_012200.4(B3GAT3):c.325C>G (p.Leu109Val)
|
rs1943052698
|
|
NM_012200.4(B3GAT3):c.334G>T (p.Glu112Ter)
|
|
|
NM_012200.4(B3GAT3):c.340G>A (p.Ala114Thr)
|
|
|
NM_012200.4(B3GAT3):c.350C>T (p.Pro117Leu)
|
|
|
NM_012200.4(B3GAT3):c.357G>A (p.Pro119=)
|
|
|
NM_012200.4(B3GAT3):c.36C>A (p.Tyr12Ter)
|
|
|
NM_012200.4(B3GAT3):c.371T>A (p.Leu124Gln)
|
rs1253042687
|
|
NM_012200.4(B3GAT3):c.372G>T (p.Leu124=)
|
rs2134430470
|
|
NM_012200.4(B3GAT3):c.390C>T (p.Leu130=)
|
|
|
NM_012200.4(B3GAT3):c.414C>G (p.Leu138=)
|
|
|
NM_012200.4(B3GAT3):c.424G>A (p.Ala142Thr)
|
rs752696250
|
|
NM_012200.4(B3GAT3):c.444C>T (p.Gly148=)
|
|
|
NM_012200.4(B3GAT3):c.459T>C (p.Val153=)
|
|
|
NM_012200.4(B3GAT3):c.465C>T (p.Pro155=)
|
|
|
NM_012200.4(B3GAT3):c.466C>T (p.Arg156Cys)
|
rs267603076
|
|
NM_012200.4(B3GAT3):c.474C>T (p.Val158=)
|
|
|
NM_012200.4(B3GAT3):c.480G>A (p.Gln160=)
|
|
|
NM_012200.4(B3GAT3):c.492C>T (p.Ala164=)
|
|
|
NM_012200.4(B3GAT3):c.496G>T (p.Asp166Tyr)
|
rs2134430036
|
|
NM_012200.4(B3GAT3):c.512G>C (p.Arg171Thr)
|
|
|
NM_012200.4(B3GAT3):c.514G>A (p.Gly172Arg)
|
|
|
NM_012200.4(B3GAT3):c.516_517insT (p.Gly173fs)
|
rs1554968726
|
|
NM_012200.4(B3GAT3):c.517G>A (p.Gly173Ser)
|
|
|
NM_012200.4(B3GAT3):c.548C>T (p.Pro183Leu)
|
rs746221368
|
|
NM_012200.4(B3GAT3):c.560A>C (p.Gln187Pro)
|
|
|
NM_012200.4(B3GAT3):c.570C>T (p.Val190=)
|
|
|
NM_012200.4(B3GAT3):c.576T>C (p.Phe192=)
|
|
|
NM_012200.4(B3GAT3):c.58CTC[1] (p.Leu21del)
|
rs1565079578
|
|
NM_012200.4(B3GAT3):c.590A>C (p.Asn197Thr)
|
rs1842716430
|
|
NM_012200.4(B3GAT3):c.597C>T (p.Tyr199=)
|
|
|
NM_012200.4(B3GAT3):c.601C>T (p.Arg201Trp)
|
|
|
NM_012200.4(B3GAT3):c.604G>T (p.Glu202Ter)
|
|
|
NM_012200.4(B3GAT3):c.60C>T (p.Leu20=)
|
|
|
NM_012200.4(B3GAT3):c.618+11G>A
|
|
|
NM_012200.4(B3GAT3):c.618+8C>T
|
|
|
NM_012200.4(B3GAT3):c.619-10C>A
|
|
|
NM_012200.4(B3GAT3):c.619-10C>T
|
rs369693069
|
|
NM_012200.4(B3GAT3):c.619-19C>T
|
|
|
NM_012200.4(B3GAT3):c.619-5G>A
|
|
|
NM_012200.4(B3GAT3):c.619-6dup
|
|
|
NM_012200.4(B3GAT3):c.619-9C>T
|
|
|
NM_012200.4(B3GAT3):c.63C>G (p.Leu21=)
|
|
|
NM_012200.4(B3GAT3):c.657_665del (p.Leu220_Gly222del)
|
rs2134429110
|
|
NM_012200.4(B3GAT3):c.65A>G (p.Tyr22Cys)
|
rs2134439341
|
|
NM_012200.4(B3GAT3):c.681G>A (p.Glu227=)
|
|
|
NM_012200.4(B3GAT3):c.684C>T (p.Gly228=)
|
rs763008165
|
|
NM_012200.4(B3GAT3):c.685C>T (p.Pro229Ser)
|
rs2134429010
|
|
NM_012200.4(B3GAT3):c.694C>G (p.Gln232Glu)
|
|
|
NM_012200.4(B3GAT3):c.699C>T (p.Asp233=)
|
|
|
NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu)
|
rs1454428915
|
|
NM_012200.4(B3GAT3):c.725C>T (p.Ala242Val)
|
|
|
NM_012200.4(B3GAT3):c.735C>T (p.Pro245=)
|
|
|
NM_012200.4(B3GAT3):c.738C>T (p.Ser246=)
|
rs750905248
|
|
NM_012200.4(B3GAT3):c.743C>T (p.Pro248Leu)
|
|
|
NM_012200.4(B3GAT3):c.74T>C (p.Val25Ala)
|
|
|
NM_012200.4(B3GAT3):c.778C>G (p.Leu260Val)
|
|
|
NM_012200.4(B3GAT3):c.7CTGAAG[3] (p.Lys6_Asn7insLeuLys)
|
|
|
NM_012200.4(B3GAT3):c.803A>G (p.Asn268Ser)
|
|
|
NM_012200.4(B3GAT3):c.819C>T (p.Ser273=)
|
|
|
NM_012200.4(B3GAT3):c.82+10G>T
|
|
|
NM_012200.4(B3GAT3):c.82+11del
|
|
|
NM_012200.4(B3GAT3):c.82+13G>T
|
rs1288315000
|
|
NM_012200.4(B3GAT3):c.82+15G>T
|
|
|
NM_012200.4(B3GAT3):c.82+18G>A
|
|
|
NM_012200.4(B3GAT3):c.82+1G>A
|
|
|
NM_012200.4(B3GAT3):c.82+3G>A
|
|
|
NM_012200.4(B3GAT3):c.823G>A (p.Ala275Thr)
|
|
|
NM_012200.4(B3GAT3):c.829C>T (p.Arg277Trp)
|
|
|
NM_012200.4(B3GAT3):c.82G>A (p.Gly28Ser)
|
|
|
NM_012200.4(B3GAT3):c.83-11C>T
|
|
|
NM_012200.4(B3GAT3):c.83-20T>C
|
|
|
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)
|
rs387906937
|
|
NM_012200.4(B3GAT3):c.871C>A (p.Pro291Thr)
|
|
|
NM_012200.4(B3GAT3):c.876G>C (p.Lys292Asn)
|
|
|
NM_012200.4(B3GAT3):c.907C>T (p.Arg303Trp)
|
|
|
NM_012200.4(B3GAT3):c.908G>A (p.Arg303Gln)
|
|
|
NM_012200.4(B3GAT3):c.909+263C>G
|
rs12794886
|
|
NM_012200.4(B3GAT3):c.910-10C>T
|
|
|
NM_012200.4(B3GAT3):c.910-13C>T
|
|
|
NM_012200.4(B3GAT3):c.910-16A>T
|
|
|
NM_012200.4(B3GAT3):c.910-6G>A
|
|
|
NM_012200.4(B3GAT3):c.910-9C>T
|
|
|
NM_012200.4(B3GAT3):c.947T>G (p.Met316Arg)
|
|
|
NM_012200.4(B3GAT3):c.952C>T (p.Gln318Ter)
|
rs2134426364
|
|
NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln)
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rs1565074659
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NM_012200.4(B3GAT3):c.95A>G (p.Asp32Gly)
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rs1943128827
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NM_012200.4(B3GAT3):c.968A>T (p.Gln323Leu)
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rs2134426342
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NM_012200.4(B3GAT3):c.96C>T (p.Asp32=)
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NM_012200.4(B3GAT3):c.970C>T (p.Arg324Trp)
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NM_012200.4(B3GAT3):c.979C>A (p.Arg327=)
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rs200511074
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NM_012200.4(B3GAT3):c.979C>T (p.Arg327Trp)
|
rs200511074
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NM_012200.4(B3GAT3):c.981G>A (p.Arg327=)
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NM_012200.4(B3GAT3):c.985T>C (p.Ser329Pro)
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NM_012200.4(B3GAT3):c.986C>G (p.Ser329Ter)
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NM_012200.4(B3GAT3):c.992del (p.Pro331fs)
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rs750535749
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