NM_000458.4(HNF1B):c.*100=
|
rs1555818000
|
0.80645
|
NM_000458.4(HNF1B):c.1654-22=
|
rs3110641
|
0.67606
|
NM_000458.4(HNF1B):c.*444=
|
rs2688
|
0.58526
|
NM_000458.4(HNF1B):c.*274=
|
rs2689
|
0.38166
|
NM_000458.4(HNF1B):c.*99C>A
|
rs2229295
|
0.27047
|
NM_000458.4(HNF1B):c.*924C>G
|
rs10962
|
0.22156
|
NM_000458.4(HNF1B):c.*384A>G
|
rs1058166
|
0.17933
|
NM_000458.4(HNF1B):c.*777G>A
|
rs17138512
|
0.02929
|
NM_000458.4(HNF1B):c.*47T>G
|
rs8068014
|
0.02908
|
NM_000458.4(HNF1B):c.*804T>C
|
rs75361710
|
0.01316
|
NM_000458.4(HNF1B):c.345-19C>T
|
rs59527848
|
0.00765
|
NM_000458.3(HNF1B):c.-178G>A
|
rs148442901
|
0.00528
|
NM_000458.4(HNF1B):c.-67C>T
|
rs140699244
|
0.00491
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_000458.4(HNF1B):c.444G>A (p.Ser148=)
|
rs147218489
|
0.00228
|
NM_000458.4(HNF1B):c.*659G>A
|
rs182736930
|
0.00215
|
NM_000458.4(HNF1B):c.*625C>T
|
rs188957129
|
0.00154
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
NM_000458.4(HNF1B):c.*683G>A
|
rs144234352
|
0.00126
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
NM_000458.4(HNF1B):c.*691A>G
|
rs751817675
|
0.00064
|
NM_000458.4(HNF1B):c.*445A>G
|
rs571607314
|
0.00029
|
NM_000458.4(HNF1B):c.*629C>T
|
rs566057658
|
0.00026
|
NM_000458.4(HNF1B):c.*403A>G
|
rs557216745
|
0.00016
|
NM_000458.3(HNF1B):c.-232C>T
|
rs142612536
|
0.00015
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
NM_000458.4(HNF1B):c.-82G>T
|
rs886052892
|
0.00013
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_000458.4(HNF1B):c.*701G>A
|
rs886052888
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
NM_000458.4(HNF1B):c.*88A>G
|
rs762266343
|
0.00003
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
NM_000458.4(HNF1B):c.9C>T (p.Ser3=)
|
rs773256244
|
0.00003
|
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly)
|
rs375644184
|
0.00002
|
NM_000458.4(HNF1B):c.*789T>C
|
rs886052887
|
0.00001
|
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe)
|
rs780035561
|
0.00001
|
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr)
|
rs772315985
|
0.00001
|
NM_000458.4(HNF1B):c.96G>A (p.Glu32=)
|
rs778229703
|
0.00001
|
HNF1B, 1-BP DEL
|
|
|
HNF1B, EX5DUP
|
|
|
NM_000458.3(HNF1B):c.1046del
|
|
|
NM_000458.3:c.1046_*941del
|
|
|
NM_000458.3:c.1046_1674del
|
|
|
NM_000458.3:c.1_1045del
|
|
|
NM_000458.3:c.1_809del
|
|
|
NM_000458.3:c.545_1045del
|
|
|
NM_000458.4(HNF1B):c.*409A>G
|
rs2031989734
|
|
NM_000458.4(HNF1B):c.*585T>C
|
rs886052889
|
|
NM_000458.4(HNF1B):c.*938A>G
|
rs574000398
|
|
NM_000458.4(HNF1B):c.-14dup
|
rs193922481
|
|
NM_000458.4(HNF1B):c.-31C>G
|
rs771697321
|
|
NM_000458.4(HNF1B):c.-36del
|
rs756559188
|
|
NM_000458.4(HNF1B):c.1001C>T (p.Ser334Phe)
|
rs776928989
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1006del (p.His336fs)
|
|
|
NM_000458.4(HNF1B):c.1006dup (p.His336fs)
|
rs1598840795
|
|
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
|
|
|
NM_000458.4(HNF1B):c.1009dup (p.His337fs)
|
rs1598840773
|
|
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
|
|
NM_000458.4(HNF1B):c.1046-294_1206+704delinsGGTTTAAGGCACTACATTTTTTGGGAAGGACAGAAATCATGAAGTTAAAAGGAGG
|
|
|
NM_000458.4(HNF1B):c.1046-2A>G
|
|
|
NM_000458.4(HNF1B):c.1047_1206+1del
|
|
|
NM_000458.4(HNF1B):c.1047_1206+1dup
|
|
|
NM_000458.4(HNF1B):c.1048dup (p.Val350fs)
|
|
|
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)
|
|
|
NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)
|
|
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
|
|
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.110dup (p.Asn38fs)
|
rs1598854747
|
|
NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu)
|
|
|
NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs)
|
rs1598815016
|
|
NM_000458.4(HNF1B):c.1132dup (p.Gln378fs)
|
rs1057519371
|
|
NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter)
|
|
|
NM_000458.4(HNF1B):c.1138del (p.Val380fs)
|
|
|
NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter)
|
|
|
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)
|
|
|
NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly)
|
|
|
NM_000458.4(HNF1B):c.1206+1G>A
|
|
|
NM_000458.4(HNF1B):c.1206+1G>C
|
|
|
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer)
|
rs1555833144
|
|
NM_000458.4(HNF1B):c.1235dup (p.Val413fs)
|
rs1598809747
|
|
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
|
|
|
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
|
|
|
NM_000458.4(HNF1B):c.1258dup (p.His420fs)
|
rs1598809697
|
|
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter)
|
rs2032692897
|
|
NM_000458.4(HNF1B):c.1299del (p.Ile434fs)
|
|
|
NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)
|
|
|
NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys)
|
|
|
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)
|
|
|
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
|
|
|
NM_000458.4(HNF1B):c.1333_1334del (p.Ala445fs)
|
rs2147457839
|
|
NM_000458.4(HNF1B):c.1339+1G>A
|
|
|
NM_000458.4(HNF1B):c.1340-3C>G
|
rs2032559501
|
|
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
|
|
|
NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter)
|
|
|
NM_000458.4(HNF1B):c.1360_1361del (p.Gln454fs)
|
|
|
NM_000458.4(HNF1B):c.1363_1364del (p.Ser455fs)
|
|
|
NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg)
|
rs982085453
|
|
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
|
|
|
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs)
|
rs1598806177
|
|
NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter)
|
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg)
|
rs886052891
|
|
NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter)
|
|
|
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
|
|
|
NM_000458.4(HNF1B):c.143del (p.Leu48fs)
|
|
|
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
|
|
|
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
|
|
|
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
|
|
|
NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val)
|
rs2032548578
|
|
NM_000458.4(HNF1B):c.150T>G (p.Pro50=)
|
rs2034119944
|
|
NM_000458.4(HNF1B):c.1517del (p.Gln506fs)
|
|
|
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)
|
|
|
NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr)
|
|
|
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)
|
|
|
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs)
|
rs764042837
|
|
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)
|
rs2034119580
|
|
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
|
|
|
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)
|
|
|
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
|
|
|
NM_000458.4(HNF1B):c.1654-11T>C
|
rs193922484
|
|
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC
|
rs386134268
|
|
NM_000458.4(HNF1B):c.1654-14CT[4]
|
rs886052890
|
|
NM_000458.4(HNF1B):c.1654-2A>T
|
|
|
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
NM_000458.4(HNF1B):c.187del (p.His63fs)
|
rs2034117925
|
|
NM_000458.4(HNF1B):c.18del (p.Ser7fs)
|
|
|
NM_000458.4(HNF1B):c.206_207del (p.His69fs)
|
|
|
NM_000458.4(HNF1B):c.207_211del (p.His69fs)
|
|
|
NM_000458.4(HNF1B):c.211_217del (p.Lys71fs)
|
|
|
NM_000458.4(HNF1B):c.215del (p.Gly72fs)
|
|
|
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.230_233del (p.Asp77fs)
|
rs1555833071
|
|
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
|
|
|
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)
|
|
|
NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter)
|
rs2034113963
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)
|
|
|
NM_000458.4(HNF1B):c.252del (p.Asp84fs)
|
|
|
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)
|
|
|
NM_000458.4(HNF1B):c.280G>T (p.Glu94Ter)
|
|
|
NM_000458.4(HNF1B):c.280del (p.Glu94fs)
|
|
|
NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs)
|
|
|
NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter)
|
|
|
NM_000458.4(HNF1B):c.309G>C (p.Ala103=)
|
rs1197263675
|
|
NM_000458.4(HNF1B):c.322del (p.Ala108fs)
|
|
|
NM_000458.4(HNF1B):c.324_340del (p.Glu109fs)
|
rs1598854261
|
|
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)
|
|
|
NM_000458.4(HNF1B):c.335G>C (p.Arg112Pro)
|
|
|
NM_000458.4(HNF1B):c.335_342del (p.Arg112fs)
|
|
|
NM_000458.4(HNF1B):c.344+1G>A
|
|
|
NM_000458.4(HNF1B):c.344+2T>C
|
|
|
NM_000458.4(HNF1B):c.344+2_344+5del
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
NM_000458.4(HNF1B):c.345-1G>A
|
|
|
NM_000458.4(HNF1B):c.345-1G>T
|
|
|
NM_000458.4(HNF1B):c.345-2A>G
|
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
|
|
|
NM_000458.4(HNF1B):c.353del (p.Pro118fs)
|
|
|
NM_000458.4(HNF1B):c.356G>A (p.Trp119Ter)
|
|
|
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile)
|
|
|
NM_000458.4(HNF1B):c.374T>C (p.Ile125Thr)
|
|
|
NM_000458.4(HNF1B):c.386_392del (p.Met129fs)
|
|
|
NM_000458.4(HNF1B):c.391C>T (p.Gln131Ter)
|
|
|
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
|
|
|
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
|
|
|
NM_000458.4(HNF1B):c.398A>G (p.Asn133Ser)
|
|
|
NM_000458.4(HNF1B):c.3G>A (p.Met1Ile)
|
|
|
NM_000458.4(HNF1B):c.3G>T (p.Met1Ile)
|
|
|
NM_000458.4(HNF1B):c.406C>G (p.Gln136Glu)
|
|
|
NM_000458.4(HNF1B):c.406C>T (p.Gln136Ter)
|
|
|
NM_000458.4(HNF1B):c.406dup (p.Gln136fs)
|
rs886041820
|
|
NM_000458.4(HNF1B):c.410_484del (p.Arg137_Lys161del)
|
|
|
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln)
|
|
|
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp)
|
|
|
NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr)
|
|
|
NM_000458.4(HNF1B):c.438C>T (p.Asn146=)
|
rs2033930573
|
|
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)
|
|
|
NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
|
|
|
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)
|
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro)
|
|
|
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys)
|
|
|
NM_000458.4(HNF1B):c.457C>A (p.His153Asn)
|
|
|
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe)
|
|
|
NM_000458.4(HNF1B):c.466A>G (p.Lys156Glu)
|
|
|
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
|
|
|
NM_000458.4(HNF1B):c.471del (p.Thr158fs)
|
|
|
NM_000458.4(HNF1B):c.472_473insTGCAGCCC (p.Thr158fs)
|
|
|
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn)
|
rs1568670646
|
|
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
|
|
|
NM_000458.4(HNF1B):c.477T>C (p.Pro159=)
|
rs1212716750
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.478A>G (p.Met160Val)
|
|
|
NM_000458.4(HNF1B):c.479T>C (p.Met160Thr)
|
|
|
NM_000458.4(HNF1B):c.480G>A (p.Met160Ile)
|
|
|
NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter)
|
rs2033928772
|
|
NM_000458.4(HNF1B):c.484del (p.Thr162fs)
|
|
|
NM_000458.4(HNF1B):c.487del (p.Gln163fs)
|
|
|
NM_000458.4(HNF1B):c.490A>C (p.Lys164Gln)
|
|
|
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
|
|
|
NM_000458.4(HNF1B):c.495_496del (p.Ala166fs)
|
rs2033927631
|
|
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr)
|
|
|
NM_000458.4(HNF1B):c.499_504delinsCCCCT (p.Ala167fs)
|
rs1598848672
|
|
NM_000458.4(HNF1B):c.505T>C (p.Tyr169His)
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NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
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NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)
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NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
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NM_000458.4(HNF1B):c.515del (p.Tyr172fs)
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NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
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NM_000458.4(HNF1B):c.517G>C (p.Val173Leu)
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NM_000458.4(HNF1B):c.522_525del (p.Arg174fs)
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NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
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NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
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NM_000458.4(HNF1B):c.534del (p.Ile179fs)
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NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
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NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
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NM_000458.4(HNF1B):c.544+1G>A
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NM_000458.4(HNF1B):c.544+1G>C
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NM_000458.4(HNF1B):c.544+1G>T
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NM_000458.4(HNF1B):c.544+2_544+3dup
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NM_000458.4(HNF1B):c.544+2dup
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NM_000458.4(HNF1B):c.544+3_544+4insT
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NM_000458.4(HNF1B):c.544+3_544+6del
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NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
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NM_000458.4(HNF1B):c.61dup (p.Val21fs)
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rs2034124973
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NM_000458.4(HNF1B):c.70del (p.Glu24fs)
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NM_000458.4(HNF1B):c.810-2A>C
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NM_000458.4(HNF1B):c.810-4C>G
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NM_000458.4(HNF1B):c.811_1045+1del
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NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)
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NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)
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NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter)
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NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
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NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
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NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
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NM_000458.4(HNF1B):c.840del (p.Ser281fs)
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NM_000458.4(HNF1B):c.840dup (p.Ser281fs)
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rs1598841082
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NM_000458.4(HNF1B):c.850del (p.His284fs)
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NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
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NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp)
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NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
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NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)
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rs2147545592
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NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)
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NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
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NM_000458.4(HNF1B):c.869T>A (p.Leu290Ter)
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NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)
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NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
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NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
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NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)
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NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)
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NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter)
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rs1598840996
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NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
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NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
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NM_000458.4(HNF1B):c.908G>A (p.Arg303His)
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rs2033692404
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NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly)
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rs2033692285
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NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp)
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rs988279557
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NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter)
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NM_000458.4(HNF1B):c.935dup (p.Leu313fs)
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NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)
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NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
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NM_000458.4(HNF1B):c.949del (p.Ala317fs)
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NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter)
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NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
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NM_000458.4(HNF1B):c.967dup (p.Thr323fs)
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NM_000458.4(HNF1B):c.972_973del (p.His324fs)
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NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)
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NM_000458.4(HNF1B):c.983del (p.Pro328fs)
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NM_000458.4:c.(?_-1)_(*1_?)del
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NM_000458.4:c.(?_-1)_(544+1_545-1)del
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NM_000458.4:c.810_1045del
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