NM_006876.3(B4GAT1):c.117G>A (p.Gln39=)
|
rs11537930
|
0.12566
|
NM_006876.3(B4GAT1):c.828G>T (p.Val276=)
|
rs142956522
|
0.00291
|
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=)
|
rs1190625
|
0.00264
|
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=)
|
rs139287952
|
0.00106
|
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=)
|
rs146812867
|
0.00059
|
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu)
|
rs143223962
|
0.00041
|
NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala)
|
rs372380407
|
0.00016
|
NM_006876.3(B4GAT1):c.1056+7A>T
|
rs373100703
|
0.00013
|
NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu)
|
rs531686913
|
0.00011
|
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)
|
rs35429253
|
0.00011
|
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)
|
rs765114036
|
0.00010
|
NM_006876.3(B4GAT1):c.1074G>T (p.Val358=)
|
rs768782904
|
0.00009
|
NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=)
|
rs771065781
|
0.00007
|
NM_006876.3(B4GAT1):c.924G>A (p.Pro308=)
|
rs200574075
|
0.00007
|
NM_006876.3(B4GAT1):c.1100A>G (p.Asn367Ser)
|
rs1024259166
|
0.00006
|
NM_006876.3(B4GAT1):c.162G>T (p.Arg54=)
|
rs751180898
|
0.00006
|
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr)
|
rs201892419
|
0.00006
|
NM_006876.3(B4GAT1):c.582G>C (p.Gln194His)
|
rs377415983
|
0.00006
|
NM_006876.3(B4GAT1):c.1057-6C>T
|
rs373478461
|
0.00005
|
NM_006876.3(B4GAT1):c.510C>G (p.Pro170=)
|
rs761777602
|
0.00005
|
NM_006876.3(B4GAT1):c.241G>A (p.Val81Ile)
|
rs774458027
|
0.00004
|
NM_006876.3(B4GAT1):c.297G>A (p.Thr99=)
|
rs772838995
|
0.00004
|
NM_006876.3(B4GAT1):c.312C>T (p.Asp104=)
|
rs781614449
|
0.00004
|
NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His)
|
rs770685607
|
0.00003
|
NM_006876.3(B4GAT1):c.156C>T (p.Ser52=)
|
rs767852256
|
0.00003
|
NM_006876.3(B4GAT1):c.338T>C (p.Leu113Pro)
|
rs757942327
|
0.00003
|
NM_006876.3(B4GAT1):c.951C>T (p.Tyr317=)
|
rs774619108
|
0.00003
|
NM_006876.3(B4GAT1):c.1209G>A (p.Glu403=)
|
rs747107884
|
0.00002
|
NM_006876.3(B4GAT1):c.300C>T (p.His100=)
|
rs746274346
|
0.00002
|
NM_006876.3(B4GAT1):c.496G>A (p.Ala166Thr)
|
rs753511719
|
0.00002
|
NM_006876.3(B4GAT1):c.512G>C (p.Arg171Pro)
|
rs767498508
|
0.00002
|
NM_006876.3(B4GAT1):c.717C>A (p.Gly239=)
|
rs199653445
|
0.00002
|
NM_006876.3(B4GAT1):c.852G>A (p.Val284=)
|
rs1209507604
|
0.00002
|
NM_006876.3(B4GAT1):c.993A>G (p.Ala331=)
|
rs763537240
|
0.00002
|
NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser)
|
rs1555016408
|
0.00001
|
NM_006876.3(B4GAT1):c.1090G>A (p.Glu364Lys)
|
rs765579855
|
0.00001
|
NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly)
|
rs1012499887
|
0.00001
|
NM_006876.3(B4GAT1):c.1242C>T (p.Arg414=)
|
rs754397014
|
0.00001
|
NM_006876.3(B4GAT1):c.128A>G (p.Asp43Gly)
|
rs1249218517
|
0.00001
|
NM_006876.3(B4GAT1):c.144C>A (p.Phe48Leu)
|
rs756392214
|
0.00001
|
NM_006876.3(B4GAT1):c.186G>A (p.Gln62=)
|
rs1196515362
|
0.00001
|
NM_006876.3(B4GAT1):c.192C>G (p.Arg64=)
|
rs1172561316
|
0.00001
|
NM_006876.3(B4GAT1):c.204C>T (p.Ala68=)
|
rs1200054256
|
0.00001
|
NM_006876.3(B4GAT1):c.210A>T (p.Gly70=)
|
rs1213999550
|
0.00001
|
NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn)
|
rs746966446
|
0.00001
|
NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr)
|
rs1465193578
|
0.00001
|
NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly)
|
rs1085307691
|
0.00001
|
NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser)
|
rs1332907515
|
0.00001
|
NM_006876.3(B4GAT1):c.289C>T (p.Leu97=)
|
rs1412219970
|
0.00001
|
NM_006876.3(B4GAT1):c.363C>T (p.Ser121=)
|
rs947725699
|
0.00001
|
NM_006876.3(B4GAT1):c.36C>T (p.Tyr12=)
|
rs571265305
|
0.00001
|
NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter)
|
rs767082700
|
0.00001
|
NM_006876.3(B4GAT1):c.468C>T (p.His156=)
|
rs1163014613
|
0.00001
|
NM_006876.3(B4GAT1):c.478C>G (p.Pro160Ala)
|
rs1188034363
|
0.00001
|
NM_006876.3(B4GAT1):c.511C>A (p.Arg171=)
|
rs750370418
|
0.00001
|
NM_006876.3(B4GAT1):c.586G>T (p.Gly196Trp)
|
rs560639654
|
0.00001
|
NM_006876.3(B4GAT1):c.601C>T (p.Leu201=)
|
rs750284280
|
0.00001
|
NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys)
|
rs113570160
|
0.00001
|
NM_006876.3(B4GAT1):c.667G>A (p.Ala223Thr)
|
rs1855225079
|
0.00001
|
NM_006876.3(B4GAT1):c.76C>A (p.Gln26Lys)
|
rs762690431
|
0.00001
|
NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala)
|
rs201440245
|
0.00001
|
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=)
|
rs1319732212
|
0.00001
|
NM_006876.3(B4GAT1):c.842T>G (p.Val281Gly)
|
rs1449152242
|
0.00001
|
NM_006876.3(B4GAT1):c.861C>T (p.Phe287=)
|
rs1296863347
|
0.00001
|
NM_006876.3(B4GAT1):c.897C>G (p.Thr299=)
|
rs1356572423
|
0.00001
|
NM_006876.3(B4GAT1):c.952G>A (p.Val318Met)
|
rs1008736415
|
0.00001
|
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)
|
rs368961025
|
0.00001
|
NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg)
|
rs775935595
|
0.00001
|
NM_006876.2(B4GAT1):[c.1168A>G;c.1217C>T]
|
|
|
NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys)
|
rs1441553616
|
|
NM_006876.3(B4GAT1):c.1045C>A (p.Arg349=)
|
rs377282346
|
|
NM_006876.3(B4GAT1):c.1056+11G>A
|
|
|
NM_006876.3(B4GAT1):c.1056+15G>A
|
|
|
NM_006876.3(B4GAT1):c.1056+17G>A
|
|
|
NM_006876.3(B4GAT1):c.1056+6C>G
|
rs1555016387
|
|
NM_006876.3(B4GAT1):c.1057-13T>C
|
|
|
NM_006876.3(B4GAT1):c.1060T>C (p.Cys354Arg)
|
rs2134973952
|
|
NM_006876.3(B4GAT1):c.1062C>T (p.Cys354=)
|
|
|
NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro)
|
rs878853035
|
|
NM_006876.3(B4GAT1):c.1074G>A (p.Val358=)
|
rs768782904
|
|
NM_006876.3(B4GAT1):c.1077G>A (p.Ala359=)
|
rs144759932
|
|
NM_006876.3(B4GAT1):c.1077G>C (p.Ala359=)
|
rs144759932
|
|
NM_006876.3(B4GAT1):c.1089dup (p.Glu364Ter)
|
|
|
NM_006876.3(B4GAT1):c.108G>A (p.Leu36=)
|
rs2134975722
|
|
NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met)
|
rs898632587
|
|
NM_006876.3(B4GAT1):c.1116T>G (p.Val372=)
|
rs1590633382
|
|
NM_006876.3(B4GAT1):c.1118A>T (p.His373Leu)
|
|
|
NM_006876.3(B4GAT1):c.1122G>A (p.Lys374=)
|
rs754282235
|
|
NM_006876.3(B4GAT1):c.1137G>A (p.Ala379=)
|
|
|
NM_006876.3(B4GAT1):c.1151C>G (p.Pro384Arg)
|
rs1443678248
|
|
NM_006876.3(B4GAT1):c.1152C>G (p.Pro384=)
|
|
|
NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=)
|
rs767119927
|
|
NM_006876.3(B4GAT1):c.1176C>T (p.His392=)
|
rs375281337
|
|
NM_006876.3(B4GAT1):c.1200C>G (p.Phe400Leu)
|
|
|
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter)
|
rs921785357
|
|
NM_006876.3(B4GAT1):c.1240C>T (p.Arg414Cys)
|
rs562459083
|
|
NM_006876.3(B4GAT1):c.132A>G (p.Gln44=)
|
rs749485530
|
|
NM_006876.3(B4GAT1):c.133T>C (p.Tyr45His)
|
rs780415381
|
|
NM_006876.3(B4GAT1):c.151C>T (p.Pro51Ser)
|
rs1272704626
|
|
NM_006876.3(B4GAT1):c.153G>A (p.Pro51=)
|
rs2134975644
|
|
NM_006876.3(B4GAT1):c.157C>T (p.Pro53Ser)
|
rs1000733603
|
|
NM_006876.3(B4GAT1):c.162G>A (p.Arg54=)
|
rs751180898
|
|
NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala)
|
rs1555016653
|
|
NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg)
|
rs1555016650
|
|
NM_006876.3(B4GAT1):c.185A>G (p.Gln62Arg)
|
rs529539963
|
|
NM_006876.3(B4GAT1):c.237C>T (p.Tyr79=)
|
|
|
NM_006876.3(B4GAT1):c.240C>T (p.Arg80=)
|
|
|
NM_006876.3(B4GAT1):c.248G>T (p.Arg83Met)
|
|
|
NM_006876.3(B4GAT1):c.271G>A (p.Asp91Asn)
|
rs1855236030
|
|
NM_006876.3(B4GAT1):c.292G>A (p.Ala98Thr)
|
|
|
NM_006876.3(B4GAT1):c.2T>C (p.Met1Thr)
|
rs1855240969
|
|
NM_006876.3(B4GAT1):c.324C>T (p.His108=)
|
|
|
NM_006876.3(B4GAT1):c.327G>T (p.Leu109=)
|
rs752090290
|
|
NM_006876.3(B4GAT1):c.330G>A (p.Ser110=)
|
|
|
NM_006876.3(B4GAT1):c.342G>A (p.Glu114=)
|
|
|
NM_006876.3(B4GAT1):c.363C>G (p.Ser121=)
|
rs947725699
|
|
NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val)
|
rs1161795181
|
|
NM_006876.3(B4GAT1):c.409G>A (p.Val137Met)
|
rs376914969
|
|
NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser)
|
rs1565209689
|
|
NM_006876.3(B4GAT1):c.420C>T (p.Tyr140=)
|
rs1163789115
|
|
NM_006876.3(B4GAT1):c.441C>G (p.Pro147=)
|
rs1590634309
|
|
NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile)
|
rs374533716
|
|
NM_006876.3(B4GAT1):c.447G>T (p.Met149Ile)
|
rs374533716
|
|
NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser)
|
rs1555016589
|
|
NM_006876.3(B4GAT1):c.471C>T (p.Leu157=)
|
|
|
NM_006876.3(B4GAT1):c.480C>G (p.Pro160=)
|
|
|
NM_006876.3(B4GAT1):c.485G>A (p.Arg162His)
|
rs1565209634
|
|
NM_006876.3(B4GAT1):c.506A>T (p.Asp169Val)
|
rs1855229583
|
|
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln)
|
rs761732914
|
|
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val)
|
rs771427950
|
|
NM_006876.3(B4GAT1):c.553G>A (p.Val185Ile)
|
rs1855227445
|
|
NM_006876.3(B4GAT1):c.572G>A (p.Arg191Lys)
|
|
|
NM_006876.3(B4GAT1):c.576G>A (p.Val192=)
|
|
|
NM_006876.3(B4GAT1):c.582G>A (p.Gln194=)
|
|
|
NM_006876.3(B4GAT1):c.583C>T (p.Pro195Ser)
|
|
|
NM_006876.3(B4GAT1):c.590T>G (p.Ile197Ser)
|
|
|
NM_006876.3(B4GAT1):c.600G>A (p.Ala200=)
|
|
|
NM_006876.3(B4GAT1):c.603G>C (p.Leu201=)
|
rs2134974950
|
|
NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)
|
|
|
NM_006876.3(B4GAT1):c.630C>T (p.Asn210=)
|
|
|
NM_006876.3(B4GAT1):c.646G>C (p.Ala216Pro)
|
|
|
NM_006876.3(B4GAT1):c.675G>A (p.Val225=)
|
|
|
NM_006876.3(B4GAT1):c.678C>A (p.Ile226=)
|
|
|
NM_006876.3(B4GAT1):c.679G>A (p.Asp227Asn)
|
rs1288080924
|
|
NM_006876.3(B4GAT1):c.688A>C (p.Met230Leu)
|
rs774850290
|
|
NM_006876.3(B4GAT1):c.688A>G (p.Met230Val)
|
rs774850290
|
|
NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg)
|
rs768060657
|
|
NM_006876.3(B4GAT1):c.69G>T (p.Ala23=)
|
|
|
NM_006876.3(B4GAT1):c.717C>G (p.Gly239=)
|
|
|
NM_006876.3(B4GAT1):c.748dup (p.Trp250fs)
|
rs1379626331
|
|
NM_006876.3(B4GAT1):c.771G>A (p.Val257=)
|
|
|
NM_006876.3(B4GAT1):c.775G>A (p.Ala259Thr)
|
rs766537591
|
|
NM_006876.3(B4GAT1):c.780C>G (p.Phe260Leu)
|
rs1319732212
|
|
NM_006876.3(B4GAT1):c.787C>G (p.Arg263Gly)
|
rs2134974665
|
|
NM_006876.3(B4GAT1):c.796C>T (p.Arg266Cys)
|
rs1455459346
|
|
NM_006876.3(B4GAT1):c.79C>A (p.Leu27Met)
|
|
|
NM_006876.3(B4GAT1):c.79C>T (p.Leu27=)
|
|
|
NM_006876.3(B4GAT1):c.819C>G (p.Asn273Lys)
|
|
|
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)
|
rs730882237
|
|
NM_006876.3(B4GAT1):c.828G>A (p.Val276=)
|
rs142956522
|
|
NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His)
|
rs1855220609
|
|
NM_006876.3(B4GAT1):c.837C>T (p.Tyr279=)
|
|
|
NM_006876.3(B4GAT1):c.838C>A (p.Gln280Lys)
|
rs1187161687
|
|
NM_006876.3(B4GAT1):c.85T>G (p.Tyr29Asp)
|
|
|
NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)
|
|
|
NM_006876.3(B4GAT1):c.870G>A (p.Gly290=)
|
rs2134974531
|
|
NM_006876.3(B4GAT1):c.872T>G (p.Leu291Trp)
|
|
|
NM_006876.3(B4GAT1):c.888G>A (p.Gln296=)
|
|
|
NM_006876.3(B4GAT1):c.89T>C (p.Leu30Pro)
|
|
|
NM_006876.3(B4GAT1):c.955G>C (p.Val319Leu)
|
rs2134974418
|
|
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln)
|
rs1555016420
|
|
NM_006876.3(B4GAT1):c.984C>T (p.Phe328=)
|
rs368961025
|
|