NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)
|
rs148515772
|
0.00009
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000117.3(EMD):c.166G>A (p.Ala56Thr)
|
rs1057520579
|
0.00005
|
NM_000117.3(EMD):c.215A>T (p.Asp72Val)
|
rs794729021
|
0.00005
|
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)
|
rs398123157
|
0.00005
|
NM_000117.3(EMD):c.581C>T (p.Ser194Leu)
|
rs782697057
|
0.00004
|
NM_000117.3(EMD):c.608G>A (p.Arg203His)
|
rs144842093
|
0.00004
|
NM_000117.3(EMD):c.110A>T (p.Lys37Met)
|
rs1085307681
|
0.00003
|
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)
|
rs781797234
|
0.00003
|
NM_000117.3(EMD):c.267C>G (p.Gly89=)
|
rs1201464258
|
0.00003
|
NM_000117.3(EMD):c.361G>A (p.Val121Met)
|
rs2067880161
|
0.00003
|
NM_000117.3(EMD):c.399+10C>T
|
rs375654959
|
0.00003
|
NM_000117.3(EMD):c.412G>A (p.Asp138Asn)
|
rs782737897
|
0.00003
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
0.00003
|
NM_000117.3(EMD):c.502C>T (p.Arg168Cys)
|
rs886044839
|
0.00003
|
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)
|
rs782559230
|
0.00003
|
NM_000117.3(EMD):c.137G>A (p.Arg46Gln)
|
rs941514119
|
0.00002
|
NM_000117.3(EMD):c.148C>T (p.Pro50Ser)
|
rs781936763
|
0.00002
|
NM_000117.3(EMD):c.241G>A (p.Asp81Asn)
|
rs141138209
|
0.00002
|
NM_000117.3(EMD):c.353G>A (p.Arg118His)
|
rs782201984
|
0.00002
|
NM_000117.3(EMD):c.422C>T (p.Ser141Phe)
|
rs1262954618
|
0.00002
|
NM_000117.3(EMD):c.572T>C (p.Met191Thr)
|
rs782244432
|
0.00002
|
NM_000117.3(EMD):c.610C>T (p.Arg204Cys)
|
rs782299893
|
0.00002
|
NM_000117.3(EMD):c.611G>A (p.Arg204His)
|
rs782642152
|
0.00002
|
NM_000117.3(EMD):c.632G>A (p.Arg211His)
|
rs782596223
|
0.00002
|
NM_000117.3(EMD):c.704T>C (p.Phe235Ser)
|
rs782627156
|
0.00002
|
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)
|
rs782222974
|
0.00001
|
NM_000117.3(EMD):c.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
NM_000117.3(EMD):c.167C>T (p.Ala56Val)
|
rs781840855
|
0.00001
|
NM_000117.3(EMD):c.242A>G (p.Asp81Gly)
|
rs1557182377
|
0.00001
|
NM_000117.3(EMD):c.295T>C (p.Tyr99His)
|
rs781835089
|
0.00001
|
NM_000117.3(EMD):c.359C>T (p.Ser120Leu)
|
rs782038352
|
0.00001
|
NM_000117.3(EMD):c.400G>A (p.Val134Met)
|
rs201250825
|
0.00001
|
NM_000117.3(EMD):c.403C>T (p.His135Tyr)
|
rs782110153
|
0.00001
|
NM_000117.3(EMD):c.406G>C (p.Asp136His)
|
rs869025401
|
0.00001
|
NM_000117.3(EMD):c.423T>G (p.Ser141=)
|
rs1209782193
|
0.00001
|
NM_000117.3(EMD):c.436G>A (p.Glu146Lys)
|
rs782732591
|
0.00001
|
NM_000117.3(EMD):c.494C>T (p.Thr165Met)
|
rs397515751
|
0.00001
|
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys)
|
rs1569552104
|
0.00001
|
NM_000117.3(EMD):c.557C>T (p.Ser186Phe)
|
rs372718547
|
0.00001
|
NM_000117.3(EMD):c.575C>T (p.Ser192Phe)
|
rs782393829
|
0.00001
|
NM_000117.3(EMD):c.593C>T (p.Ser198Phe)
|
rs1569552105
|
0.00001
|
NM_000117.3(EMD):c.619C>T (p.Arg207Trp)
|
rs2067885563
|
0.00001
|
NM_000117.3(EMD):c.620G>A (p.Arg207Gln)
|
rs782352489
|
0.00001
|
NM_000117.3(EMD):c.631C>T (p.Arg211Cys)
|
rs782193940
|
0.00001
|
NM_000117.3(EMD):c.728A>C (p.Tyr243Ser)
|
rs782208090
|
0.00001
|
NC_000023.10:g.(?_153607835)_(153609567_?)dup
|
|
|
NM_000117.3(EMD):c.110A>G (p.Lys37Arg)
|
|
|
NM_000117.3(EMD):c.115_117del (p.Phe39del)
|
rs781959238
|
|
NM_000117.3(EMD):c.118G>C (p.Glu40Gln)
|
rs2067875036
|
|
NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)
|
|
|
NM_000117.3(EMD):c.136C>T (p.Arg46Trp)
|
rs2067875291
|
|
NM_000117.3(EMD):c.139C>T (p.Arg47Trp)
|
|
|
NM_000117.3(EMD):c.143T>G (p.Leu48Arg)
|
rs2148128160
|
|
NM_000117.3(EMD):c.152C>G (p.Pro51Arg)
|
|
|
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)
|
|
|
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys)
|
rs2148128196
|
|
NM_000117.3(EMD):c.180C>G (p.Ser60Arg)
|
rs2067875771
|
|
NM_000117.3(EMD):c.187+4A>T
|
rs2148128205
|
|
NM_000117.3(EMD):c.187+5G>C
|
|
|
NM_000117.3(EMD):c.188-6A>G
|
rs2148128297
|
|
NM_000117.3(EMD):c.188A>G (p.Asp63Gly)
|
rs1557182355
|
|
NM_000117.3(EMD):c.192G>C (p.Leu64Phe)
|
rs782066603
|
|
NM_000117.3(EMD):c.19C>T (p.Leu7Phe)
|
rs2067873080
|
|
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
|
|
|
NM_000117.3(EMD):c.208G>T (p.Asp70Tyr)
|
rs2148128314
|
|
NM_000117.3(EMD):c.20T>A (p.Leu7His)
|
rs794729016
|
|
NM_000117.3(EMD):c.218T>C (p.Met73Thr)
|
rs2148128327
|
|
NM_000117.3(EMD):c.229C>T (p.Pro77Ser)
|
rs1557182365
|
|
NM_000117.3(EMD):c.235A>G (p.Lys79Glu)
|
|
|
NM_000117.3(EMD):c.236A>G (p.Lys79Arg)
|
|
|
NM_000117.3(EMD):c.237A>C (p.Lys79Asn)
|
|
|
NM_000117.3(EMD):c.23C>G (p.Ser8Trp)
|
rs869025400
|
|
NM_000117.3(EMD):c.23C>T (p.Ser8Leu)
|
rs869025400
|
|
NM_000117.3(EMD):c.264G>C (p.Lys88Asn)
|
|
|
NM_000117.3(EMD):c.271A>G (p.Asn91Asp)
|
rs2067879275
|
|
NM_000117.3(EMD):c.285T>C (p.Tyr95=)
|
rs2148128483
|
|
NM_000117.3(EMD):c.307A>G (p.Arg103Gly)
|
|
|
NM_000117.3(EMD):c.317G>A (p.Gly106Glu)
|
rs1312994862
|
|
NM_000117.3(EMD):c.31G>A (p.Glu11Lys)
|
rs2148127965
|
|
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
|
|
|
NM_000117.3(EMD):c.32A>G (p.Glu11Gly)
|
|
|
NM_000117.3(EMD):c.334G>A (p.Gly112Ser)
|
|
|
NM_000117.3(EMD):c.343A>T (p.Arg115Trp)
|
rs2067879939
|
|
NM_000117.3(EMD):c.350T>G (p.Val117Gly)
|
rs781924971
|
|
NM_000117.3(EMD):c.352C>T (p.Arg118Cys)
|
rs781847968
|
|
NM_000117.3(EMD):c.356A>G (p.Gln119Arg)
|
|
|
NM_000117.3(EMD):c.377A>G (p.Asp126Gly)
|
|
|
NM_000117.3(EMD):c.37A>C (p.Thr13Pro)
|
rs2148127968
|
|
NM_000117.3(EMD):c.399G>C (p.Gln133His)
|
|
|
NM_000117.3(EMD):c.400-3C>T
|
|
|
NM_000117.3(EMD):c.406G>A (p.Asp136Asn)
|
rs869025401
|
|
NM_000117.3(EMD):c.411C>G (p.Asp137Glu)
|
rs2148128718
|
|
NM_000117.3(EMD):c.413A>G (p.Asp138Gly)
|
rs1212579575
|
|
NM_000117.3(EMD):c.41C>A (p.Thr14Asn)
|
|
|
NM_000117.3(EMD):c.421TCT[2] (p.Ser143del)
|
rs1557182551
|
|
NM_000117.3(EMD):c.425C>T (p.Ser142Phe)
|
rs2067882775
|
|
NM_000117.3(EMD):c.433G>A (p.Glu145Lys)
|
rs2067882908
|
|
NM_000117.3(EMD):c.437A>G (p.Glu146Gly)
|
rs2148128747
|
|
NM_000117.3(EMD):c.448A>G (p.Arg150Gly)
|
|
|
NM_000117.3(EMD):c.449+4C>T
|
rs886044810
|
|
NM_000117.3(EMD):c.449G>C (p.Arg150Thr)
|
rs1557182571
|
|
NM_000117.3(EMD):c.455G>A (p.Arg152His)
|
|
|
NM_000117.3(EMD):c.457C>T (p.Pro153Ser)
|
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
NM_000117.3(EMD):c.487A>G (p.Ser163Gly)
|
rs1557182614
|
|
NM_000117.3(EMD):c.490A>C (p.Ile164Leu)
|
rs2067884058
|
|
NM_000117.3(EMD):c.490A>G (p.Ile164Val)
|
|
|
NM_000117.3(EMD):c.497A>G (p.His166Arg)
|
rs1016943599
|
|
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)
|
rs2067884177
|
|
NM_000117.3(EMD):c.503G>A (p.Arg168His)
|
rs898460509
|
|
NM_000117.3(EMD):c.503G>T (p.Arg168Leu)
|
|
|
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
|
|
|
NM_000117.3(EMD):c.525C>G (p.Ser175Arg)
|
rs782367505
|
|
NM_000117.3(EMD):c.52C>A (p.Arg18=)
|
rs2148127991
|
|
NM_000117.3(EMD):c.533A>G (p.Asp178Gly)
|
rs2067884448
|
|
NM_000117.3(EMD):c.534C>A (p.Asp178Glu)
|
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
NM_000117.3(EMD):c.547C>T (p.Pro183Ser)
|
rs104894806
|
|
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)
|
rs104894805
|
|
NM_000117.3(EMD):c.550_552del (p.Thr184del)
|
|
|
NM_000117.3(EMD):c.551C>T (p.Thr184Ile)
|
|
|
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
|
|
|
NM_000117.3(EMD):c.562A>C (p.Thr188Pro)
|
rs1557182639
|
|
NM_000117.3(EMD):c.571A>G (p.Met191Val)
|
rs397515752
|
|
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del)
|
rs2067884874
|
|
NM_000117.3(EMD):c.578C>T (p.Ser193Phe)
|
rs1220835396
|
|
NM_000117.3(EMD):c.587C>G (p.Ser196Cys)
|
|
|
NM_000117.3(EMD):c.587C>T (p.Ser196Phe)
|
rs781900414
|
|
NM_000117.3(EMD):c.599G>T (p.Trp200Leu)
|
|
|
NM_000117.3(EMD):c.59A>G (p.Asn20Ser)
|
|
|
NM_000117.3(EMD):c.605C>T (p.Thr202Ile)
|
|
|
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)
|
rs782299893
|
|
NM_000117.3(EMD):c.618C>G (p.Ile206Met)
|
rs782496874
|
|
NM_000117.3(EMD):c.620G>C (p.Arg207Pro)
|
rs782352489
|
|
NM_000117.3(EMD):c.623C>G (p.Pro208Arg)
|
rs987808355
|
|
NM_000117.3(EMD):c.631C>G (p.Arg211Gly)
|
rs782193940
|
|
NM_000117.3(EMD):c.641G>C (p.Gly214Ala)
|
rs2148128967
|
|
NM_000117.3(EMD):c.651G>A (p.Leu217=)
|
rs2067885915
|
|
NM_000117.3(EMD):c.656A>G (p.Gln219Arg)
|
|
|
NM_000117.3(EMD):c.65C>T (p.Pro22Leu)
|
rs794729017
|
|
NM_000117.3(EMD):c.662G>A (p.Arg221His)
|
rs782057378
|
|
NM_000117.3(EMD):c.667G>A (p.Val223Ile)
|
|
|
NM_000117.3(EMD):c.670C>T (p.Pro224Ser)
|
rs1557182687
|
|
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
|
|
|
NM_000117.3(EMD):c.680_684del (p.Gly227fs)
|
rs2148128987
|
|
NM_000117.3(EMD):c.683A>G (p.Gln228Arg)
|
|
|
NM_000117.3(EMD):c.684GCT[2] (p.Leu231del)
|
rs2067886222
|
|
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro)
|
rs2067873549
|
|
NM_000117.3(EMD):c.69C>G (p.His23Gln)
|
|
|
NM_000117.3(EMD):c.706G>A (p.Val236Met)
|
|
|
NM_000117.3(EMD):c.709A>G (p.Ile237Val)
|
rs2148129009
|
|
NM_000117.3(EMD):c.70G>A (p.Gly24Arg)
|
rs727504628
|
|
NM_000117.3(EMD):c.70G>C (p.Gly24Arg)
|
|
|
NM_000117.3(EMD):c.712G>A (p.Val238Ile)
|
rs782455914
|
|
NM_000117.3(EMD):c.715C>T (p.Leu239Phe)
|
rs2067886585
|
|
NM_000117.3(EMD):c.717_718del (p.Phe240fs)
|
rs1603366041
|
|
NM_000117.3(EMD):c.718TTC[1] (p.Phe241del)
|
rs2148129019
|
|
NM_000117.3(EMD):c.725T>G (p.Ile242Ser)
|
rs2067886717
|
|
NM_000117.3(EMD):c.730C>T (p.His244Tyr)
|
rs2067886772
|
|
NM_000117.3(EMD):c.73C>A (p.Pro25Thr)
|
rs876661346
|
|
NM_000117.3(EMD):c.74C>G (p.Pro25Arg)
|
rs2067873634
|
|
NM_000117.3(EMD):c.74C>T (p.Pro25Leu)
|
rs2067873634
|
|
NM_000117.3(EMD):c.759C>G (p.Pro253=)
|
rs1569552110
|
|
NM_000117.3(EMD):c.762C>G (p.Phe254Leu)
|
|
|
NM_000117.3(EMD):c.77T>C (p.Val26Ala)
|
rs727505029
|
|
NM_000117.3(EMD):c.82+3A>G
|
|
|
NM_000117.3(EMD):c.82+4C>A
|
rs376569563
|
|
NM_000117.3(EMD):c.82+4C>T
|
|
|
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)
|
rs1064797380
|
|
NM_000117.3(EMD):c.82G>C (p.Gly28Arg)
|
rs1064797380
|
|
NM_000117.3(EMD):c.83-6G>A
|
|
|
NM_000117.3(EMD):c.83G>A (p.Gly28Glu)
|
rs781978021
|
|
NM_000117.3(EMD):c.85T>C (p.Ser29Pro)
|
rs2067874763
|
|
NM_000117.3(EMD):c.86C>T (p.Ser29Leu)
|
|
|
NM_000117.3(EMD):c.92G>C (p.Arg31Pro)
|
|
|
NM_000117.3(EMD):c.92G>T (p.Arg31Leu)
|
rs2148128120
|
|
NM_000117.3(EMD):c.95G>C (p.Arg32Thr)
|
|
|