NM_001174147.2(LMX1B):c.327-28396A>G
|
rs3861871
|
0.46585
|
NM_001174147.2(LMX1B):c.327-318A>G
|
rs10116233
|
0.46289
|
NM_001174147.2(LMX1B):c.441A>G (p.Glu147=)
|
rs2277158
|
0.45698
|
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=)
|
rs13295990
|
0.41484
|
NM_001174147.2(LMX1B):c.326+7G>C
|
rs1336980
|
0.28269
|
NM_001174147.2(LMX1B):c.140-266A>G
|
rs2235057
|
0.25849
|
NM_001174147.2(LMX1B):c.887-26G>T
|
rs3737048
|
0.20498
|
NM_001174147.2(LMX1B):c.327-338A>G
|
rs56663592
|
0.10822
|
NM_001174147.2(LMX1B):c.560-49C>T
|
rs34682917
|
0.10592
|
NM_001174147.2(LMX1B):c.*51A>G
|
rs10121481
|
0.08863
|
NM_001174147.2(LMX1B):c.*79G>A
|
rs10115393
|
0.07595
|
NM_001174147.2(LMX1B):c.1051+19A>C
|
rs975697104
|
0.07406
|
NM_001174147.2(LMX1B):c.*27G>A
|
rs10115373
|
0.06554
|
NM_001174147.2(LMX1B):c.139+209C>T
|
rs2235055
|
0.04402
|
NM_001174147.2(LMX1B):c.559+20G>A
|
rs76196383
|
0.02910
|
NM_001174147.2(LMX1B):c.930G>A (p.Thr310=)
|
rs112171815
|
0.01716
|
NM_001174147.2(LMX1B):c.327-283T>A
|
rs113530471
|
0.01661
|
NM_001174147.2(LMX1B):c.327-273G>A
|
rs112719988
|
0.01660
|
NM_001174147.2(LMX1B):c.*127C>T
|
rs113846301
|
0.01560
|
NM_001174147.2(LMX1B):c.560-28A>C
|
rs111456523
|
0.01243
|
NM_001174147.2(LMX1B):c.*280G>A
|
rs111648919
|
0.01052
|
NM_001174147.2(LMX1B):c.560-175T>C
|
rs111959047
|
0.00751
|
NM_001174147.2(LMX1B):c.560-87A>G
|
rs113782126
|
0.00745
|
NM_001174147.2(LMX1B):c.560-19C>T
|
rs112173596
|
0.00734
|
NM_001174147.2(LMX1B):c.534C>A (p.Ser178=)
|
rs116316477
|
0.00498
|
NM_001174147.2(LMX1B):c.819+53G>A
|
rs115842978
|
0.00498
|
NM_001174147.2(LMX1B):c.886+28G>A
|
rs150656317
|
0.00426
|
NM_001174147.2(LMX1B):c.560-214G>A
|
rs146508524
|
0.00364
|
NM_001174147.2(LMX1B):c.*3716C>G
|
rs147614955
|
0.00324
|
NM_001174147.2(LMX1B):c.887-77T>A
|
rs143965663
|
0.00310
|
NM_001174147.2(LMX1B):c.886+18C>T
|
rs529668402
|
0.00104
|
NM_001174147.2(LMX1B):c.295C>A (p.Arg99=)
|
rs141391682
|
0.00093
|
NM_001174147.2(LMX1B):c.*950G>C
|
rs568763153
|
0.00080
|
NM_001174147.2(LMX1B):c.1059C>T (p.Asp353=)
|
rs148940265
|
0.00056
|
NM_001174147.2(LMX1B):c.870C>A (p.Ser290=)
|
rs544649941
|
0.00051
|
NM_001174147.2(LMX1B):c.140-4A>G
|
rs368126014
|
0.00047
|
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=)
|
rs372183654
|
0.00030
|
NM_001174147.2(LMX1B):c.327-17G>A
|
rs372620265
|
0.00026
|
NM_001174147.2(LMX1B):c.1152C>T (p.Arg384=)
|
rs146476348
|
0.00016
|
NM_001174147.2(LMX1B):c.886+8G>A
|
rs774459476
|
0.00012
|
NM_001174147.2(LMX1B):c.549G>A (p.Glu183=)
|
rs775705878
|
0.00011
|
NM_001174147.2(LMX1B):c.570G>A (p.Glu190=)
|
rs536687637
|
0.00010
|
NM_001174147.2(LMX1B):c.741+10G>A
|
rs565143893
|
0.00009
|
NM_001174147.2(LMX1B):c.972G>C (p.Gln324His)
|
rs886063418
|
0.00009
|
NM_001174147.2(LMX1B):c.19C>G (p.Pro7Ala)
|
rs767281663
|
0.00008
|
NM_001174147.2(LMX1B):c.327-13T>C
|
rs755470456
|
0.00008
|
NM_001174147.2(LMX1B):c.690G>A (p.Gln230=)
|
rs749449104
|
0.00008
|
NM_001174147.2(LMX1B):c.130G>A (p.Val44Met)
|
rs1017526258
|
0.00007
|
NM_001174147.2(LMX1B):c.139+19C>T
|
rs371424668
|
0.00006
|
NM_001174147.2(LMX1B):c.381C>T (p.Phe127=)
|
rs540034621
|
0.00006
|
NM_001174147.2(LMX1B):c.648G>A (p.Pro216=)
|
rs550024836
|
0.00006
|
NM_001174147.2(LMX1B):c.899G>A (p.Ser300Asn)
|
rs866053996
|
0.00006
|
NM_001174147.2(LMX1B):c.1116C>T (p.Phe372=)
|
rs750636039
|
0.00005
|
NM_001174147.2(LMX1B):c.742-7G>C
|
rs534963836
|
0.00005
|
NM_001174147.2(LMX1B):c.1014G>A (p.Thr338=)
|
rs199580468
|
0.00004
|
NM_001174147.2(LMX1B):c.1017G>A (p.Pro339=)
|
rs549494538
|
0.00004
|
NM_001174147.2(LMX1B):c.333C>T (p.Phe111=)
|
rs138385790
|
0.00004
|
NM_001174147.2(LMX1B):c.349G>A (p.Gly117Ser)
|
rs773332016
|
0.00004
|
NM_001174147.2(LMX1B):c.375C>T (p.Thr125=)
|
rs921576454
|
0.00004
|
NM_001174147.2(LMX1B):c.459C>T (p.Gly153=)
|
rs779330478
|
0.00004
|
NM_001174147.2(LMX1B):c.463G>A (p.Glu155Lys)
|
rs776839118
|
0.00004
|
NM_001174147.2(LMX1B):c.874C>T (p.Arg292Trp)
|
rs560914000
|
0.00004
|
NM_001174147.2(LMX1B):c.1120G>A (p.Gly374Ser)
|
rs769220332
|
0.00003
|
NM_001174147.2(LMX1B):c.1171C>T (p.Arg391Trp)
|
rs141496559
|
0.00003
|
NM_001174147.2(LMX1B):c.366C>T (p.Ile122=)
|
rs200350302
|
0.00003
|
NM_001174147.2(LMX1B):c.429C>T (p.Cys143=)
|
rs886038509
|
0.00003
|
NM_001174147.2(LMX1B):c.552C>T (p.Ser184=)
|
rs142488434
|
0.00003
|
NM_001174147.2(LMX1B):c.594G>A (p.Pro198=)
|
rs139862413
|
0.00003
|
NM_001174147.2(LMX1B):c.608G>A (p.Gly203Asp)
|
rs750404792
|
0.00003
|
NM_001174147.2(LMX1B):c.894G>A (p.Leu298=)
|
rs373033856
|
0.00003
|
NM_001174147.2(LMX1B):c.958G>A (p.Val320Met)
|
rs778847250
|
0.00003
|
NM_001174147.2(LMX1B):c.1011C>T (p.Leu337=)
|
rs1001731463
|
0.00002
|
NM_001174147.2(LMX1B):c.1173G>C (p.Arg391=)
|
rs200484654
|
0.00002
|
NM_001174147.2(LMX1B):c.508G>A (p.Glu170Lys)
|
rs199738980
|
0.00002
|
NM_001174147.2(LMX1B):c.559+7C>A
|
rs373728590
|
0.00002
|
NM_001174147.2(LMX1B):c.57G>A (p.Thr19=)
|
rs376265443
|
0.00002
|
NM_001174147.2(LMX1B):c.742-15C>G
|
rs566334716
|
0.00002
|
NM_001174147.2(LMX1B):c.991G>A (p.Asp331Asn)
|
rs777089988
|
0.00002
|
NM_001174147.2(LMX1B):c.99C>T (p.His33=)
|
rs1835262985
|
0.00002
|
NM_001174147.2(LMX1B):c.1035C>T (p.Asp345=)
|
rs755830984
|
0.00001
|
NM_001174147.2(LMX1B):c.1052-19C>T
|
rs770215617
|
0.00001
|
NM_001174147.2(LMX1B):c.1052-8C>T
|
rs749808946
|
0.00001
|
NM_001174147.2(LMX1B):c.1052G>A (p.Gly351Glu)
|
rs2030330651
|
0.00001
|
NM_001174147.2(LMX1B):c.1084G>A (p.Asp362Asn)
|
rs1420619429
|
0.00001
|
NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met)
|
rs750526845
|
0.00001
|
NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr)
|
rs761796969
|
0.00001
|
NM_001174147.2(LMX1B):c.180G>A (p.Gln60=)
|
rs781592042
|
0.00001
|
NM_001174147.2(LMX1B):c.186C>T (p.Pro62=)
|
rs757937784
|
0.00001
|
NM_001174147.2(LMX1B):c.22G>A (p.Glu8Lys)
|
rs756001518
|
0.00001
|
NM_001174147.2(LMX1B):c.231C>T (p.His77=)
|
rs1423332912
|
0.00001
|
NM_001174147.2(LMX1B):c.376G>A (p.Glu126Lys)
|
rs761336753
|
0.00001
|
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=)
|
rs375657880
|
0.00001
|
NM_001174147.2(LMX1B):c.559G>A (p.Val187Met)
|
rs765969991
|
0.00001
|
NM_001174147.2(LMX1B):c.637G>A (p.Gly213Arg)
|
rs1472509996
|
0.00001
|
NM_001174147.2(LMX1B):c.720C>T (p.Val240=)
|
rs1203103557
|
0.00001
|
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter)
|
rs1554728698
|
0.00001
|
NM_001174147.2(LMX1B):c.741+9C>T
|
rs753041025
|
0.00001
|
NM_001174147.2(LMX1B):c.747A>T (p.Arg249=)
|
rs1473062818
|
0.00001
|
NM_001174147.2(LMX1B):c.819+10C>T
|
rs1261006209
|
0.00001
|
NM_001174147.2(LMX1B):c.834G>A (p.Ala278=)
|
rs776615104
|
0.00001
|
NM_001174147.2(LMX1B):c.902G>A (p.Arg301His)
|
rs773510108
|
0.00001
|
GRCh37/hg19 9q33.3(chr9:129370440-129513586)x1
|
|
|
GRCh37/hg19 9q33.3(chr9:129407543-129422451)x1
|
|
|
NC_000009.11:g.(?_129376729)_(129377858_?)del
|
|
|
NC_000009.11:g.(?_129376729)_(129377868_?)del
|
|
|
NC_000009.11:g.(?_129376729)_(129458730_?)del
|
|
|
NC_000009.11:g.(?_129377642)_(129377868_?)del
|
|
|
NC_000009.11:g.(?_129453095)_(129453367_?)dup
|
|
|
NC_000009.11:g.(?_129453095)_(129458730_?)del
|
|
|
NC_000009.12:g.126615383del
|
|
|
NM_001174147.2(LMX1B):c.1002G>T (p.Gln334His)
|
rs1469503021
|
|
NM_001174147.2(LMX1B):c.1007G>A (p.Gly336Asp)
|
|
|
NM_001174147.2(LMX1B):c.103C>T (p.Leu35=)
|
|
|
NM_001174147.2(LMX1B):c.1051+23G>C
|
rs776843607
|
|
NM_001174147.2(LMX1B):c.1051+27G>A
|
rs146424259
|
|
NM_001174147.2(LMX1B):c.1051+27G>C
|
rs146424259
|
|
NM_001174147.2(LMX1B):c.1051+92C>A
|
rs149111178
|
|
NM_001174147.2(LMX1B):c.1052-18A>G
|
|
|
NM_001174147.2(LMX1B):c.1052-5C>T
|
|
|
NM_001174147.2(LMX1B):c.1057G>A (p.Asp353Asn)
|
rs1310715839
|
|
NM_001174147.2(LMX1B):c.1061C>T (p.Ser354Phe)
|
|
|
NM_001174147.2(LMX1B):c.1080C>T (p.Asp360=)
|
|
|
NM_001174147.2(LMX1B):c.1098C>T (p.Thr366=)
|
|
|
NM_001174147.2(LMX1B):c.109C>T (p.Pro37Ser)
|
|
|
NM_001174147.2(LMX1B):c.1107C>A (p.Ser369Arg)
|
|
|
NM_001174147.2(LMX1B):c.1107C>T (p.Ser369=)
|
rs10115304
|
|
NM_001174147.2(LMX1B):c.1108G>A (p.Asp370Asn)
|
|
|
NM_001174147.2(LMX1B):c.1119C>T (p.Leu373=)
|
rs555304586
|
|
NM_001174147.2(LMX1B):c.1124C>T (p.Ser375Phe)
|
|
|
NM_001174147.2(LMX1B):c.1132G>A (p.Val378Met)
|
|
|
NM_001174147.2(LMX1B):c.1134G>T (p.Val378=)
|
rs2118998828
|
|
NM_001174147.2(LMX1B):c.1139C>T (p.Ser380Phe)
|
|
|
NM_001174147.2(LMX1B):c.1141C>T (p.Leu381=)
|
rs1588309897
|
|
NM_001174147.2(LMX1B):c.1176C>G (p.Leu392=)
|
|
|
NM_001174147.2(LMX1B):c.1197C>T (p.Tyr399=)
|
|
|
NM_001174147.2(LMX1B):c.1203C>T (p.Ala401=)
|
|
|
NM_001174147.2(LMX1B):c.130dup (p.Val44fs)
|
|
|
NM_001174147.2(LMX1B):c.139+295G>A
|
rs75894916
|
|
NM_001174147.2(LMX1B):c.139+5G>C
|
rs1114167421
|
|
NM_001174147.2(LMX1B):c.140-12T>G
|
|
|
NM_001174147.2(LMX1B):c.140-13C>T
|
|
|
NM_001174147.2(LMX1B):c.140-14C>T
|
|
|
NM_001174147.2(LMX1B):c.140-15C>A
|
|
|
NM_001174147.2(LMX1B):c.140-1G>A
|
|
|
NM_001174147.2(LMX1B):c.140-3C>G
|
|
|
NM_001174147.2(LMX1B):c.140-5T>C
|
|
|
NM_001174147.2(LMX1B):c.157C>G (p.Pro53Ala)
|
rs1228632022
|
|
NM_001174147.2(LMX1B):c.162C>T (p.Ala54=)
|
|
|
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)
|
rs1588257904
|
|
NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)
|
|
|
NM_001174147.2(LMX1B):c.178C>T (p.Gln60Ter)
|
rs2118823223
|
|
NM_001174147.2(LMX1B):c.182G>C (p.Arg61Pro)
|
rs2118823251
|
|
NM_001174147.2(LMX1B):c.192C>G (p.Ser64=)
|
rs746649113
|
|
NM_001174147.2(LMX1B):c.193G>T (p.Asp65Tyr)
|
|
|
NM_001174147.2(LMX1B):c.207dup (p.Arg70fs)
|
rs2118823366
|
|
NM_001174147.2(LMX1B):c.208C>T (p.Arg70Ter)
|
rs2118823374
|
|
NM_001174147.2(LMX1B):c.209G>A (p.Arg70Gln)
|
|
|
NM_001174147.2(LMX1B):c.209del (p.Arg70fs)
|
|
|
NM_001174147.2(LMX1B):c.217G>C (p.Glu73Gln)
|
|
|
NM_001174147.2(LMX1B):c.217G>T (p.Glu73Ter)
|
|
|
NM_001174147.2(LMX1B):c.217del (p.Glu73fs)
|
rs2118823413
|
|
NM_001174147.2(LMX1B):c.221C>T (p.Ser74Leu)
|
rs1835285052
|
|
NM_001174147.2(LMX1B):c.224C>G (p.Ser75Cys)
|
|
|
NM_001174147.2(LMX1B):c.226T>G (p.Trp76Gly)
|
rs1057520783
|
|
NM_001174147.2(LMX1B):c.227G>A (p.Trp76Ter)
|
rs886039574
|
|
NM_001174147.2(LMX1B):c.232G>A (p.Glu78Lys)
|
rs1835285480
|
|
NM_001174147.2(LMX1B):c.235G>T (p.Glu79Ter)
|
rs745711468
|
|
NM_001174147.2(LMX1B):c.237G>T (p.Glu79Asp)
|
rs2118823518
|
|
NM_001174147.2(LMX1B):c.238T>C (p.Cys80Arg)
|
rs2118823527
|
|
NM_001174147.2(LMX1B):c.242T>G (p.Leu81Trp)
|
rs1835285672
|
|
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter)
|
rs121909489
|
|
NM_001174147.2(LMX1B):c.247T>C (p.Cys83Arg)
|
|
|
NM_001174147.2(LMX1B):c.249C>G (p.Cys83Trp)
|
|
|
NM_001174147.2(LMX1B):c.253G>T (p.Ala85Ser)
|
|
|
NM_001174147.2(LMX1B):c.255G>A (p.Ala85=)
|
rs763085114
|
|
NM_001174147.2(LMX1B):c.255G>C (p.Ala85=)
|
|
|
NM_001174147.2(LMX1B):c.256T>A (p.Cys86Ser)
|
|
|
NM_001174147.2(LMX1B):c.257G>A (p.Cys86Tyr)
|
rs1554721897
|
|
NM_001174147.2(LMX1B):c.257G>C (p.Cys86Ser)
|
|
|
NM_001174147.2(LMX1B):c.258T>A (p.Cys86Ter)
|
|
|
NM_001174147.2(LMX1B):c.259_304del (p.Gln87fs)
|
|
|
NM_001174147.2(LMX1B):c.262C>T (p.Gln88Ter)
|
|
|
NM_001174147.2(LMX1B):c.267C>A (p.Ala89=)
|
|
|
NM_001174147.2(LMX1B):c.271_272del (p.Thr91fs)
|
|
|
NM_001174147.2(LMX1B):c.273C>T (p.Thr91=)
|
|
|
NM_001174147.2(LMX1B):c.285C>G (p.Tyr95Ter)
|
rs2118823701
|
|
NM_001174147.2(LMX1B):c.285_289del (p.Tyr95_Arg97delinsTer)
|
rs1057520178
|
|
NM_001174147.2(LMX1B):c.289_291del (p.Arg97del)
|
rs2118823763
|
|
NM_001174147.2(LMX1B):c.297del (p.Lys100fs)
|
rs2118823819
|
|
NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)
|
|
|
NM_001174147.2(LMX1B):c.305A>G (p.Tyr102Cys)
|
rs1564143881
|
|
NM_001174147.2(LMX1B):c.311A>G (p.Lys104Arg)
|
|
|
NM_001174147.2(LMX1B):c.317A>C (p.Asp106Ala)
|
|
|
NM_001174147.2(LMX1B):c.319T>G (p.Tyr107Asp)
|
|
|
NM_001174147.2(LMX1B):c.321C>G (p.Tyr107Ter)
|
rs1835287345
|
|
NM_001174147.2(LMX1B):c.323_326+8del
|
rs2118823917
|
|
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)
|
rs1835287406
|
|
NM_001174147.2(LMX1B):c.326+14G>A
|
|
|
NM_001174147.2(LMX1B):c.326+16C>T
|
|
|
NM_001174147.2(LMX1B):c.326+178G>C
|
rs945686
|
|
NM_001174147.2(LMX1B):c.326+1G>A
|
|
|
NM_001174147.2(LMX1B):c.326+1G>C
|
rs1835287461
|
|
NM_001174147.2(LMX1B):c.327-2A>G
|
rs2118986578
|
|
NM_001174147.2(LMX1B):c.327-4G>A
|
rs147333150
|
|
NM_001174147.2(LMX1B):c.327-5C>T
|
|
|
NM_001174147.2(LMX1B):c.327-5_327-3dup
|
rs376229612
|
|
NM_001174147.2(LMX1B):c.327-6C>T
|
rs572751023
|
|
NM_001174147.2(LMX1B):c.330C>G (p.Leu110=)
|
|
|
NM_001174147.2(LMX1B):c.332del (p.Phe111fs)
|
rs2118986608
|
|
NM_001174147.2(LMX1B):c.335C>T (p.Ala112Val)
|
|
|
NM_001174147.2(LMX1B):c.346_347insT (p.Ser116fs)
|
rs2118986658
|
|
NM_001174147.2(LMX1B):c.348C>T (p.Ser116=)
|
|
|
NM_001174147.2(LMX1B):c.351_355dup (p.Met119fs)
|
rs2118986709
|
|
NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr)
|
rs121909488
|
|
NM_001174147.2(LMX1B):c.369C>G (p.Ala123=)
|
|
|
NM_001174147.2(LMX1B):c.36G>T (p.Arg12Ser)
|
|
|
NM_001174147.2(LMX1B):c.372C>T (p.Pro124=)
|
|
|
NM_001174147.2(LMX1B):c.392C>T (p.Ala131Val)
|
|
|
NM_001174147.2(LMX1B):c.398_399dup (p.Cys134fs)
|
rs2118986877
|
|
NM_001174147.2(LMX1B):c.403G>A (p.Val135Met)
|
|
|
NM_001174147.2(LMX1B):c.406T>A (p.Tyr136Asn)
|
rs2030102298
|
|
NM_001174147.2(LMX1B):c.407_421del (p.Tyr136_Cys140del)
|
rs2118986919
|
|
NM_001174147.2(LMX1B):c.408C>G (p.Tyr136Ter)
|
|
|
NM_001174147.2(LMX1B):c.409C>T (p.His137Tyr)
|
rs2030102410
|
|
NM_001174147.2(LMX1B):c.419G>A (p.Cys140Tyr)
|
rs2118986952
|
|
NM_001174147.2(LMX1B):c.419G>T (p.Cys140Phe)
|
rs2118986952
|
|
NM_001174147.2(LMX1B):c.428G>A (p.Cys143Tyr)
|
|
|
NM_001174147.2(LMX1B):c.428G>C (p.Cys143Ser)
|
rs2118986969
|
|
NM_001174147.2(LMX1B):c.42C>T (p.Phe14=)
|
|
|
NM_001174147.2(LMX1B):c.436T>C (p.Cys146Arg)
|
|
|
NM_001174147.2(LMX1B):c.437G>A (p.Cys146Tyr)
|
|
|
NM_001174147.2(LMX1B):c.442C>T (p.Arg148Trp)
|
|
|
NM_001174147.2(LMX1B):c.443G>A (p.Arg148Gln)
|
rs748017457
|
|
NM_001174147.2(LMX1B):c.445C>T (p.Gln149Ter)
|
rs2118987040
|
|
NM_001174147.2(LMX1B):c.448C>G (p.Leu150Val)
|
rs2118987049
|
|
NM_001174147.2(LMX1B):c.451C>A (p.Arg151Ser)
|
|
|
NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys)
|
rs149434820
|
|
NM_001174147.2(LMX1B):c.462C>T (p.Asp154=)
|
|
|
NM_001174147.2(LMX1B):c.465A>C (p.Glu155Asp)
|
|
|
NM_001174147.2(LMX1B):c.469G>A (p.Val157Met)
|
rs767072869
|
|
NM_001174147.2(LMX1B):c.479_486del (p.Glu160fs)
|
|
|
NM_001174147.2(LMX1B):c.484C>T (p.Gln162Ter)
|
rs2118987177
|
|
NM_001174147.2(LMX1B):c.491T>C (p.Leu164Pro)
|
|
|
NM_001174147.2(LMX1B):c.507C>G (p.Tyr169Ter)
|
|
|
NM_001174147.2(LMX1B):c.507C>T (p.Tyr169=)
|
|
|
NM_001174147.2(LMX1B):c.51G>A (p.Gly17=)
|
|
|
NM_001174147.2(LMX1B):c.522C>T (p.Asp174=)
|
rs754713175
|
|
NM_001174147.2(LMX1B):c.544G>A (p.Asp182Asn)
|
|
|
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=)
|
rs34434402
|
|
NM_001174147.2(LMX1B):c.553G>A (p.Asp185Asn)
|
|
|
NM_001174147.2(LMX1B):c.558C>T (p.Ser186=)
|
|
|
NM_001174147.2(LMX1B):c.559+24del
|
rs542331709
|
|
NM_001174147.2(LMX1B):c.560-11G>T
|
|
|
NM_001174147.2(LMX1B):c.560-20C>T
|
|
|
NM_001174147.2(LMX1B):c.585C>T (p.Asp195=)
|
|
|
NM_001174147.2(LMX1B):c.587T>G (p.Met196Arg)
|
rs1167579696
|
|
NM_001174147.2(LMX1B):c.58G>A (p.Asp20Asn)
|
|
|
NM_001174147.2(LMX1B):c.600_604dup (p.Gln202fs)
|
|
|
NM_001174147.2(LMX1B):c.60C>T (p.Asp20=)
|
|
|
NM_001174147.2(LMX1B):c.623del (p.Gly208fs)
|
rs2118991726
|
|
NM_001174147.2(LMX1B):c.627C>G (p.Ser209Arg)
|
|
|
NM_001174147.2(LMX1B):c.627C>T (p.Ser209=)
|
|
|
NM_001174147.2(LMX1B):c.628G>A (p.Gly210Arg)
|
rs754095270
|
|
NM_001174147.2(LMX1B):c.647C>T (p.Pro216Leu)
|
rs779417752
|
|
NM_001174147.2(LMX1B):c.64G>A (p.Ala22Thr)
|
|
|
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter)
|
rs121909487
|
|
NM_001174147.2(LMX1B):c.666C>T (p.Pro222=)
|
|
|
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
|
|
|
NM_001174147.2(LMX1B):c.667del (p.Arg223fs)
|
rs1564169730
|
|
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln)
|
rs121909491
|
|
NM_001174147.2(LMX1B):c.674T>G (p.Ile225Ser)
|
|
|
NM_001174147.2(LMX1B):c.676C>T (p.Leu226Phe)
|
|
|
NM_001174147.2(LMX1B):c.679_680del (p.Thr227fs)
|
|
|
NM_001174147.2(LMX1B):c.688C>A (p.Gln230Lys)
|
rs2118991973
|
|
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)
|
rs121909490
|
|
NM_001174147.2(LMX1B):c.702C>T (p.Phe234=)
|
|
|
NM_001174147.2(LMX1B):c.705G>C (p.Lys235Asn)
|
|
|
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)
|
rs1588307140
|
|
NM_001174147.2(LMX1B):c.714C>T (p.Phe238=)
|
|
|
NM_001174147.2(LMX1B):c.722C>T (p.Ser241Leu)
|
|
|
NM_001174147.2(LMX1B):c.723G>C (p.Ser241=)
|
|
|
NM_001174147.2(LMX1B):c.723G>T (p.Ser241=)
|
rs368736494
|
|
NM_001174147.2(LMX1B):c.725C>T (p.Ser242Leu)
|
rs1002033502
|
|
NM_001174147.2(LMX1B):c.731C>G (p.Pro244Arg)
|
rs2118992203
|
|
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
|
rs1191455921
|
|
NM_001174147.2(LMX1B):c.739A>T (p.Lys247Ter)
|
rs2118992231
|
|
NM_001174147.2(LMX1B):c.741+12C>A
|
|
|
NM_001174147.2(LMX1B):c.741+13C>T
|
|
|
NM_001174147.2(LMX1B):c.741+16G>T
|
rs374894222
|
|
NM_001174147.2(LMX1B):c.741+19dup
|
rs752786088
|
|
NM_001174147.2(LMX1B):c.741+1G>T
|
rs1427331961
|
|
NM_001174147.2(LMX1B):c.741+8del
|
rs779132103
|
|
NM_001174147.2(LMX1B):c.742-14T>C
|
|
|
NM_001174147.2(LMX1B):c.742-7_742-6delinsCT
|
|
|
NM_001174147.2(LMX1B):c.745C>A (p.Arg249=)
|
rs121909492
|
|
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter)
|
rs121909492
|
|
NM_001174147.2(LMX1B):c.746G>T (p.Arg249Leu)
|
|
|
NM_001174147.2(LMX1B):c.748G>T (p.Glu250Ter)
|
rs2118992752
|
|
NM_001174147.2(LMX1B):c.750_751del (p.Glu250fs)
|
rs2118992738
|
|
NM_001174147.2(LMX1B):c.768G>A (p.Thr256=)
|
|
|
NM_001174147.2(LMX1B):c.770G>T (p.Gly257Val)
|
rs2118992774
|
|
NM_001174147.2(LMX1B):c.770dup (p.Leu258fs)
|
|
|
NM_001174147.2(LMX1B):c.776dup (p.Ser259fs)
|
|
|
NM_001174147.2(LMX1B):c.781C>G (p.Arg261Gly)
|
rs886039576
|
|
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys)
|
rs886039576
|
|
NM_001174147.2(LMX1B):c.782G>T (p.Arg261Leu)
|
rs1161738395
|
|
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=)
|
|
|
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met)
|
rs1588307464
|
|
NM_001174147.2(LMX1B):c.788T>C (p.Val263Ala)
|
|
|
NM_001174147.2(LMX1B):c.796T>G (p.Trp266Gly)
|
rs1588307482
|
|
NM_001174147.2(LMX1B):c.801del (p.Gln268fs)
|
|
|
NM_001174147.2(LMX1B):c.803A>C (p.Gln268Pro)
|
rs2118992851
|
|
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys)
|
rs121909486
|
|
NM_001174147.2(LMX1B):c.807C>T (p.Asn269=)
|
|
|
NM_001174147.2(LMX1B):c.812G>C (p.Arg271Thr)
|
|
|
NM_001174147.2(LMX1B):c.819+11_819+30del
|
rs747533344
|
|
NM_001174147.2(LMX1B):c.819+14C>T
|
|
|
NM_001174147.2(LMX1B):c.819+15C>A
|
rs989131995
|
|
NM_001174147.2(LMX1B):c.819+16C>T
|
|
|
NM_001174147.2(LMX1B):c.819+17C>A
|
rs745541136
|
|
NM_001174147.2(LMX1B):c.819+2T>G
|
rs2118992878
|
|
NM_001174147.2(LMX1B):c.820-13G>A
|
rs914683099
|
|
NM_001174147.2(LMX1B):c.820-13G>T
|
rs914683099
|
|
NM_001174147.2(LMX1B):c.820-14C>A
|
rs578206037
|
|
NM_001174147.2(LMX1B):c.820-14C>T
|
|
|
NM_001174147.2(LMX1B):c.820-15G>A
|
rs2118993229
|
|
NM_001174147.2(LMX1B):c.820-15G>T
|
rs2118993229
|
|
NM_001174147.2(LMX1B):c.820-18A>G
|
|
|
NM_001174147.2(LMX1B):c.820-1G>A
|
|
|
NM_001174147.2(LMX1B):c.82A>G (p.Ile28Val)
|
|
|
NM_001174147.2(LMX1B):c.844C>T (p.Gln282Ter)
|
rs2118993320
|
|
NM_001174147.2(LMX1B):c.856G>A (p.Glu286Lys)
|
|
|
NM_001174147.2(LMX1B):c.867C>T (p.Asn289=)
|
rs1490029797
|
|
NM_001174147.2(LMX1B):c.871C>T (p.Gln291Ter)
|
|
|
NM_001174147.2(LMX1B):c.875G>A (p.Arg292Gln)
|
rs775625232
|
|
NM_001174147.2(LMX1B):c.875G>T (p.Arg292Leu)
|
|
|
NM_001174147.2(LMX1B):c.878T>G (p.Leu293Arg)
|
|
|
NM_001174147.2(LMX1B):c.879G>A (p.Leu293=)
|
rs1388453714
|
|
NM_001174147.2(LMX1B):c.883C>A (p.Gln295Lys)
|
rs2118993442
|
|
NM_001174147.2(LMX1B):c.886+13C>T
|
|
|
NM_001174147.2(LMX1B):c.886+14G>A
|
|
|
NM_001174147.2(LMX1B):c.886+26_886+64del
|
rs762501399
|
|
NM_001174147.2(LMX1B):c.886+7_886+39del
|
rs746256519
|
|
NM_001174147.2(LMX1B):c.886+7_886+39dup
|
|
|
NM_001174147.2(LMX1B):c.888G>T (p.Glu296Asp)
|
|
|
NM_001174147.2(LMX1B):c.901C>T (p.Arg301Cys)
|
rs376497496
|
|
NM_001174147.2(LMX1B):c.904A>C (p.Met302Leu)
|
rs1782032990
|
|
NM_001174147.2(LMX1B):c.914T>C (p.Met305Thr)
|
|
|
NM_001174147.2(LMX1B):c.915G>A (p.Met305Ile)
|
rs2118997138
|
|
NM_001174147.2(LMX1B):c.933G>A (p.Pro311=)
|
|
|
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=)
|
rs145052881
|
|
NM_001174147.2(LMX1B):c.945A>G (p.Pro315=)
|
|
|
NM_001174147.2(LMX1B):c.948G>T (p.Gln316His)
|
|
|
NM_001174147.2(LMX1B):c.963C>T (p.Ala321=)
|
|
|
NM_001174147.2(LMX1B):c.976C>G (p.Pro326Ala)
|
|
|