NM_178138.6(LHX3):c.*780C>T
|
rs4842130
|
0.01058
|
NM_006261.5(PROP1):c.*52G>A
|
rs2233787
|
0.00869
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
NM_006261.5(PROP1):c.-302G>A
|
rs150629697
|
0.00555
|
NM_005149.3(TBX19):c.1053-11dup
|
rs138050448
|
0.00465
|
NM_000823.4(GHRHR):c.741C>T (p.Leu247=)
|
rs151019928
|
0.00461
|
NM_000823.4(GHRHR):c.237G>A (p.Pro79=)
|
rs28371558
|
0.00351
|
NM_005149.3(TBX19):c.*371C>G
|
rs188457637
|
0.00318
|
NM_178138.6(LHX3):c.*637T>C
|
rs191713062
|
0.00280
|
NM_000823.4(GHRHR):c.751+12G>A
|
rs187794371
|
0.00262
|
NM_000823.4(GHRHR):c.*51C>T
|
rs185262577
|
0.00240
|
NM_006261.5(PROP1):c.630A>C (p.Pro210=)
|
rs535993919
|
0.00212
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_178138.6(LHX3):c.*773G>A
|
rs148781569
|
0.00191
|
NM_178138.6(LHX3):c.79+1829G>A
|
rs551389075
|
0.00185
|
NM_006261.5(PROP1):c.534G>A (p.Gln178=)
|
rs73807328
|
0.00184
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_033343.4(LHX4):c.*289G>A
|
rs74970014
|
0.00180
|
NM_178138.6(LHX3):c.252-4G>T
|
rs372058376
|
0.00165
|
NM_003865.2(HESX1):c.-276T>G
|
rs983243
|
0.00148
|
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)
|
rs10227922
|
0.00125
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
NM_005149.3(TBX19):c.315C>T (p.Asn105=)
|
rs143801899
|
0.00111
|
NM_000823.4(GHRHR):c.1105-14C>G
|
rs13223704
|
0.00101
|
NM_000306.4(POU1F1):c.252C>T (p.His84=)
|
rs4988460
|
0.00098
|
NM_000306.4(POU1F1):c.*141A>T
|
rs552876873
|
0.00088
|
NM_000823.4(GHRHR):c.975-6C>A
|
rs117572522
|
0.00088
|
NM_178138.6(LHX3):c.79+1902C>T
|
rs375579333
|
0.00087
|
NM_178138.6(LHX3):c.705C>G (p.Arg235=)
|
rs138595537
|
0.00073
|
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro)
|
rs182345541
|
0.00073
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
NM_005149.3(TBX19):c.204-3T>C
|
rs200043223
|
0.00069
|
NM_178138.6(LHX3):c.*790C>T
|
rs572411652
|
0.00068
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
NM_005149.3(TBX19):c.*781A>G
|
rs575063780
|
0.00062
|
NM_003865.2(HESX1):c.-230T>A
|
rs549564119
|
0.00050
|
NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp)
|
rs142361839
|
0.00048
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00044
|
NM_005149.3(TBX19):c.*1235G>A
|
rs112010969
|
0.00036
|
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)
|
rs201356862
|
0.00035
|
NM_006261.5(PROP1):c.*468C>T
|
rs886060473
|
0.00033
|
NM_005149.3(TBX19):c.*258A>C
|
rs771131598
|
0.00031
|
NM_000061.3(BTK):c.1909-9T>C
|
rs782702231
|
0.00029
|
NM_005149.3(TBX19):c.*273A>G
|
rs755252476
|
0.00029
|
NM_000061.3(BTK):c.-105G>T
|
rs1034801451
|
0.00028
|
NM_000515.5(GH1):c.217A>G (p.Asn73Asp)
|
rs71640276
|
0.00027
|
NM_006261.5(PROP1):c.335G>A (p.Arg112Gln)
|
rs201266211
|
0.00026
|
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly)
|
rs139599160
|
0.00025
|
NM_000823.4(GHRHR):c.490G>A (p.Val164Ile)
|
rs138615339
|
0.00024
|
NM_000823.4(GHRHR):c.660G>A (p.Leu220=)
|
rs145466944
|
0.00024
|
NM_006261.5(PROP1):c.110-8G>A
|
rs377698903
|
0.00024
|
NM_021728.4(OTX2):c.*667A>C
|
rs184421963
|
0.00024
|
NM_178138.6(LHX3):c.441C>T (p.Thr147=)
|
rs200521449
|
0.00024
|
NM_000823.4(GHRHR):c.359C>T (p.Ala120Val)
|
rs138751215
|
0.00023
|
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu)
|
rs202243828
|
0.00023
|
NM_000306.4(POU1F1):c.27T>C (p.Ala9=)
|
rs35560664
|
0.00022
|
NM_003865.3(HESX1):c.460-3T>C
|
rs112703580
|
0.00021
|
NM_021728.4(OTX2):c.273+11T>C
|
rs371958059
|
0.00021
|
NM_178138.6(LHX3):c.*309C>T
|
rs1040969252
|
0.00020
|
NM_005149.3(TBX19):c.*1204T>C
|
rs548141259
|
0.00019
|
NM_005149.3(TBX19):c.*1251C>T
|
rs377117067
|
0.00019
|
NM_005149.3(TBX19):c.603+15G>T
|
rs886045513
|
0.00019
|
NM_006261.5(PROP1):c.96G>A (p.Pro32=)
|
rs144314831
|
0.00019
|
NM_033343.4(LHX4):c.-121T>G
|
rs547988090
|
0.00019
|
NM_178138.6(LHX3):c.*582G>A
|
rs879304888
|
0.00019
|
NM_178138.6(LHX3):c.*9C>T
|
rs369623778
|
0.00018
|
NM_005149.3(TBX19):c.597T>C (p.Asn199=)
|
rs143377172
|
0.00017
|
NM_033343.4(LHX4):c.-134G>C
|
rs565557892
|
0.00017
|
NM_005149.3(TBX19):c.*809A>G
|
rs962423588
|
0.00016
|
NM_005149.3(TBX19):c.1090G>A (p.Gly364Arg)
|
rs199644548
|
0.00016
|
NM_005149.3(TBX19):c.728-7A>G
|
rs752195406
|
0.00016
|
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)
|
rs199761861
|
0.00016
|
NM_033343.4(LHX4):c.248+13G>A
|
rs375232367
|
0.00016
|
NM_178138.6(LHX3):c.79+1935C>G
|
rs769912904
|
0.00016
|
NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu)
|
rs142833343
|
0.00015
|
NM_003865.3(HESX1):c.220G>A (p.Val74Met)
|
rs148422263
|
0.00014
|
NM_021728.4(OTX2):c.*764G>A
|
rs775857186
|
0.00014
|
NM_178138.6(LHX3):c.*437G>A
|
rs1013764402
|
0.00014
|
NM_000306.4(POU1F1):c.*245A>G
|
rs771316195
|
0.00013
|
NM_006261.5(PROP1):c.234A>G (p.Pro78=)
|
rs533923552
|
0.00013
|
NM_006261.5(PROP1):c.303T>C (p.Ser101=)
|
rs114584451
|
0.00013
|
NM_178138.6(LHX3):c.*456G>A
|
rs150382420
|
0.00013
|
NM_000061.3(BTK):c.390C>T (p.Asn130=)
|
rs150917517
|
0.00012
|
NM_003865.3(HESX1):c.-6G>A
|
rs368171529
|
0.00012
|
NM_033343.4(LHX4):c.*28C>A
|
rs75471724
|
0.00012
|
NM_178138.6(LHX3):c.*638G>T
|
rs374699388
|
0.00012
|
NM_178138.6(LHX3):c.860C>T (p.Ser287Leu)
|
rs748322395
|
0.00012
|
NM_000061.3(BTK):c.*390G>A
|
rs782012349
|
0.00011
|
NM_000823.4(GHRHR):c.6C>T (p.Asp2=)
|
rs148704543
|
0.00011
|
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln)
|
rs768165720
|
0.00011
|
NM_005149.3(TBX19):c.*1026T>C
|
rs945775793
|
0.00011
|
NM_005149.3(TBX19):c.724C>T (p.His242Tyr)
|
rs202072731
|
0.00011
|
NM_006261.5(PROP1):c.46C>G (p.Arg16Gly)
|
rs140016178
|
0.00011
|
NM_000306.4(POU1F1):c.427C>A (p.Arg143=)
|
rs142046308
|
0.00010
|
NM_021728.4(OTX2):c.-119-65G>T
|
rs886050561
|
0.00010
|
NM_178138.6(LHX3):c.198C>G (p.Ala66=)
|
rs190916587
|
0.00010
|
NM_000061.3(BTK):c.*342T>G
|
rs781937023
|
0.00009
|
NM_000306.4(POU1F1):c.90T>A (p.Ser30Arg)
|
rs543096490
|
0.00009
|
NM_000515.5(GH1):c.246G>C (p.Glu82Asp)
|
rs61762497
|
0.00009
|
NM_000823.4(GHRHR):c.*29A>G
|
rs759106817
|
0.00009
|
NM_005149.3(TBX19):c.*954C>T
|
rs140853969
|
0.00009
|
NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr)
|
rs372952844
|
0.00009
|
NM_178138.6(LHX3):c.739G>A (p.Glu247Lys)
|
rs767763626
|
0.00009
|
NM_000306.4(POU1F1):c.439+4T>C
|
rs199746697
|
0.00008
|
NM_000823.4(GHRHR):c.580C>T (p.His194Tyr)
|
rs377182945
|
0.00008
|
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)
|
rs28936704
|
0.00008
|
NM_178138.6(LHX3):c.*55G>A
|
rs543364659
|
0.00008
|
NM_178138.6(LHX3):c.281A>T (p.Gln94Leu)
|
rs758634719
|
0.00008
|
NM_000061.3(BTK):c.1977C>T (p.Ser659=)
|
rs782047787
|
0.00007
|
NM_005149.3(TBX19):c.*654T>G
|
rs886045518
|
0.00007
|
NM_033343.4(LHX4):c.146A>G (p.His49Arg)
|
rs368995644
|
0.00007
|
NM_178138.6(LHX3):c.776-15C>A
|
rs376405589
|
0.00007
|
NM_000061.3(BTK):c.720A>C (p.Glu240Asp)
|
rs141590686
|
0.00006
|
NM_000823.4(GHRHR):c.200C>T (p.Thr67Met)
|
rs201893637
|
0.00006
|
NM_000823.4(GHRHR):c.485A>T (p.Asn162Ile)
|
rs746565662
|
0.00006
|
NM_000823.4(GHRHR):c.93C>T (p.Ile31=)
|
rs143429066
|
0.00006
|
NM_005149.3(TBX19):c.1147C>T (p.Leu383Phe)
|
rs200775601
|
0.00006
|
NM_005149.3(TBX19):c.603+13G>T
|
rs762160668
|
0.00006
|
NM_005149.3(TBX19):c.959C>T (p.Ser320Leu)
|
rs772038103
|
0.00006
|
NM_178138.6(LHX3):c.251+9C>T
|
rs569254423
|
0.00006
|
NM_178138.6(LHX3):c.79+1904C>T
|
rs1021046718
|
0.00006
|
NM_178138.6(LHX3):c.919C>A (p.Arg307=)
|
rs145867977
|
0.00006
|
NM_178138.6(LHX3):c.94G>A (p.Ala32Thr)
|
rs201187873
|
0.00006
|
NM_003865.3(HESX1):c.*48G>A
|
rs372550682
|
0.00005
|
NM_005149.3(TBX19):c.*746A>G
|
rs553418600
|
0.00005
|
NM_005149.3(TBX19):c.1310C>T (p.Ala437Val)
|
rs147003438
|
0.00005
|
NM_006261.5(PROP1):c.*37C>T
|
rs749918250
|
0.00005
|
NM_006261.5(PROP1):c.624C>T (p.Cys208=)
|
rs761651134
|
0.00005
|
NM_178138.6(LHX3):c.*161C>A
|
rs886063701
|
0.00005
|
NM_000061.3(BTK):c.894+3A>G
|
rs781949555
|
0.00004
|
NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp)
|
rs200508601
|
0.00004
|
NM_000823.4(GHRHR):c.914G>A (p.Arg305His)
|
rs200472991
|
0.00004
|
NM_003865.3(HESX1):c.350A>C (p.Gln117Pro)
|
rs765353265
|
0.00004
|
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)
|
rs770886420
|
0.00004
|
NM_005149.3(TBX19):c.310G>A (p.Val104Ile)
|
rs762183325
|
0.00004
|
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)
|
rs200197424
|
0.00004
|
NM_006261.5(PROP1):c.-160C>T
|
rs1025842722
|
0.00004
|
NM_006261.5(PROP1):c.197C>T (p.Pro66Leu)
|
rs764154376
|
0.00004
|
NM_006261.5(PROP1):c.359G>A (p.Arg120His)
|
rs769171020
|
0.00004
|
NM_021728.4(OTX2):c.406A>G (p.Ser136Gly)
|
rs770291855
|
0.00004
|
NM_033343.4(LHX4):c.*154A>G
|
rs747210761
|
0.00004
|
NM_178138.6(LHX3):c.*357G>A
|
rs886063700
|
0.00004
|
NM_178138.6(LHX3):c.*517C>T
|
rs369945393
|
0.00004
|
NM_178138.6(LHX3):c.*554C>T
|
rs886063697
|
0.00004
|
NM_178138.6(LHX3):c.1155C>T (p.Pro385=)
|
rs377653669
|
0.00004
|
NM_178138.6(LHX3):c.79+1862A>G
|
rs886063705
|
0.00004
|
NM_178138.6(LHX3):c.79+1888G>A
|
rs1188545118
|
0.00004
|
NM_178138.6(LHX3):c.966C>T (p.Ala322=)
|
rs551180434
|
0.00004
|
NM_000061.3(BTK):c.1358C>T (p.Ser453Phe)
|
rs782457670
|
0.00003
|
NM_000306.4(POU1F1):c.456T>C (p.Asn152=)
|
rs886058914
|
0.00003
|
NM_000823.4(GHRHR):c.*88T>A
|
rs578006876
|
0.00003
|
NM_000823.4(GHRHR):c.760G>A (p.Val254Met)
|
rs375562610
|
0.00003
|
NM_000823.4(GHRHR):c.812+12C>T
|
rs151020002
|
0.00003
|
NM_003865.3(HESX1):c.479G>A (p.Arg160His)
|
rs766234350
|
0.00003
|
NM_005149.3(TBX19):c.*1230C>T
|
rs775873047
|
0.00003
|
NM_005149.3(TBX19):c.840G>A (p.Glu280=)
|
rs753572197
|
0.00003
|
NM_021728.4(OTX2):c.*219G>A
|
rs886050559
|
0.00003
|
NM_021728.4(OTX2):c.*647A>G
|
rs886050557
|
0.00003
|
NM_021728.4(OTX2):c.270G>T (p.Val90=)
|
rs747916036
|
0.00003
|
NM_021728.4(OTX2):c.713A>T (p.His238Leu)
|
rs144449264
|
0.00003
|
NM_033343.4(LHX4):c.*91C>T
|
rs555728017
|
0.00003
|
NM_033343.4(LHX4):c.-221G>A
|
rs532307461
|
0.00003
|
NM_033343.4(LHX4):c.998C>T (p.Thr333Met)
|
rs780869144
|
0.00003
|
NM_178138.6(LHX3):c.*32G>A
|
rs771392788
|
0.00003
|
NM_178138.6(LHX3):c.*857C>T
|
rs886063696
|
0.00003
|
NM_178138.6(LHX3):c.413G>T (p.Arg138Leu)
|
rs374047783
|
0.00003
|
NM_178138.6(LHX3):c.804G>C (p.Pro268=)
|
rs771201500
|
0.00003
|
NM_178138.6(LHX3):c.993G>A (p.Gln331=)
|
rs752480970
|
0.00003
|
NM_000061.3(BTK):c.482A>C (p.Asn161Thr)
|
rs371085740
|
0.00002
|
NM_005149.3(TBX19):c.*88G>A
|
rs980005154
|
0.00002
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)
|
rs146918863
|
0.00002
|
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)
|
rs775353413
|
0.00002
|
NM_033343.4(LHX4):c.378G>A (p.Thr126=)
|
rs751665904
|
0.00002
|
NM_178138.6(LHX3):c.79+1967C>A
|
rs759584117
|
0.00002
|
NM_000061.3(BTK):c.100G>A (p.Val34Met)
|
rs141488935
|
0.00001
|
NM_000061.3(BTK):c.1328T>C (p.Ile443Thr)
|
rs782133950
|
0.00001
|
NM_000061.3(BTK):c.1475G>A (p.Arg492His)
|
rs782338603
|
0.00001
|
NM_000061.3(BTK):c.1697C>T (p.Pro566Leu)
|
rs1057521814
|
0.00001
|
NM_000061.3(BTK):c.367C>T (p.Arg123Trp)
|
rs1926975244
|
0.00001
|
NM_000061.3(BTK):c.577G>C (p.Glu193Gln)
|
rs1555978783
|
0.00001
|
NM_000061.3(BTK):c.580G>A (p.Glu194Lys)
|
rs1555978779
|
0.00001
|
NM_000061.3(BTK):c.736G>C (p.Glu246Gln)
|
rs1468544899
|
0.00001
|
NM_000061.3(BTK):c.7G>A (p.Ala3Thr)
|
rs368549990
|
0.00001
|
NM_000061.3(BTK):c.852A>G (p.Lys284=)
|
rs1057515724
|
0.00001
|
NM_000306.4(POU1F1):c.-48T>C
|
rs771498395
|
0.00001
|
NM_000306.4(POU1F1):c.604+9T>C
|
rs374875206
|
0.00001
|
NM_000306.4(POU1F1):c.667A>G (p.Ile223Val)
|
rs770960302
|
0.00001
|
NM_000515.5(GH1):c.309C>T (p.Arg103=)
|
rs886053236
|
0.00001
|
NM_000515.5(GH1):c.502A>T (p.Thr168Ser)
|
rs771280061
|
0.00001
|
NM_000823.4(GHRHR):c.*198C>A
|
rs886062276
|
0.00001
|
NM_000823.4(GHRHR):c.447C>T (p.Thr149=)
|
rs753197652
|
0.00001
|
NM_000823.4(GHRHR):c.812C>T (p.Ala271Val)
|
rs547906129
|
0.00001
|
NM_000823.4(GHRHR):c.882+11G>A
|
rs200997755
|
0.00001
|
NM_003865.3(HESX1):c.11G>A (p.Ser4Asn)
|
rs1332400265
|
0.00001
|
NM_003865.3(HESX1):c.124C>T (p.His42Tyr)
|
rs761470587
|
0.00001
|
NM_003865.3(HESX1):c.137C>T (p.Ala46Val)
|
rs765587086
|
0.00001
|
NM_003865.3(HESX1):c.183T>C (p.His61=)
|
rs374187836
|
0.00001
|
NM_003865.3(HESX1):c.18G>C (p.Gln6His)
|
rs121909173
|
0.00001
|
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)
|
rs754137696
|
0.00001
|
NM_003865.3(HESX1):c.34G>A (p.Gly12Arg)
|
rs375305919
|
0.00001
|
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu)
|
rs28936703
|
0.00001
|
NM_003865.3(HESX1):c.59C>G (p.Ser20Cys)
|
rs747106663
|
0.00001
|
NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala)
|
rs144416092
|
0.00001
|
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu)
|
rs753455443
|
0.00001
|
NM_005149.3(TBX19):c.39T>G (p.Asp13Glu)
|
rs886045508
|
0.00001
|
NM_005149.3(TBX19):c.536G>A (p.Arg179Gln)
|
rs139968594
|
0.00001
|
NM_005149.3(TBX19):c.814G>T (p.Ala272Ser)
|
rs752325337
|
0.00001
|
NM_005149.3(TBX19):c.916+2T>G
|
rs763382655
|
0.00001
|
NM_006261.5(PROP1):c.109+13C>T
|
rs759210335
|
0.00001
|
NM_006261.5(PROP1):c.156G>A (p.Gly52=)
|
rs781247441
|
0.00001
|
NM_006261.5(PROP1):c.249G>A (p.Gln83=)
|
rs373160119
|
0.00001
|
NM_021728.4(OTX2):c.*1018T>C
|
rs1594950988
|
0.00001
|
NM_021728.4(OTX2):c.*147G>T
|
rs1478094910
|
0.00001
|
NM_021728.4(OTX2):c.*543A>G
|
rs948990605
|
0.00001
|
NM_021728.4(OTX2):c.*648C>A
|
rs886050556
|
0.00001
|
NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn)
|
rs201612374
|
0.00001
|
NM_033343.4(LHX4):c.740A>T (p.Glu247Val)
|
rs766381404
|
0.00001
|
NM_033343.4(LHX4):c.775C>G (p.Arg259Gly)
|
rs747140246
|
0.00001
|
NM_178138.6(LHX3):c.*1031A>G
|
rs569655668
|
0.00001
|
NM_178138.6(LHX3):c.*140G>A
|
rs1181863841
|
0.00001
|
NM_178138.6(LHX3):c.*237G>A
|
rs1252042714
|
0.00001
|
NM_178138.6(LHX3):c.*403T>C
|
rs919677270
|
0.00001
|
NM_178138.6(LHX3):c.1024A>G (p.Thr342Ala)
|
rs1260618703
|
0.00001
|
NM_178138.6(LHX3):c.1092C>A (p.Asn364Lys)
|
rs886063702
|
0.00001
|
NM_178138.6(LHX3):c.145C>T (p.Arg49Cys)
|
rs781049722
|
0.00001
|
NM_178138.6(LHX3):c.80-10G>A
|
rs555766551
|
0.00001
|
NM_178138.6(LHX3):c.812G>A (p.Gly271Asp)
|
rs758724505
|
0.00001
|
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp)
|
rs746433383
|
0.00001
|
NC_000003.11:g.(?_57130421)_(57303715_?)dup
|
|
|
NC_000023.10:g.(?_100604873)_(100630272_?)dup
|
|
|
NC_000023.10:g.(?_100617141)_(100662891_?)dup
|
|
|
NC_000023.10:g.(?_99551275)_(101097764_?)dup
|
|
|
NC_000023.11:g.(?_101353174)_(101358716_?)dup
|
|
|
NM_000061.3(BTK):c.-31+1G>A
|
rs1927600989
|
|
NM_000061.3(BTK):c.-31+6T>C
|
|
|
NM_000061.3(BTK):c.-87C>T
|
rs1927601892
|
|
NM_000061.3(BTK):c.100G>C (p.Val34Leu)
|
|
|
NM_000061.3(BTK):c.1018C>T (p.Pro340Ser)
|
|
|
NM_000061.3(BTK):c.1039G>C (p.Ala347Pro)
|
rs1603006298
|
|
NM_000061.3(BTK):c.1064T>C (p.Ile355Thr)
|
rs1057517709
|
|
NM_000061.3(BTK):c.1069G>A (p.Glu357Lys)
|
rs1555978130
|
|
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys)
|
rs28935478
|
|
NM_000061.3(BTK):c.1093A>T (p.Asn365Tyr)
|
rs2147429790
|
|
NM_000061.3(BTK):c.1132T>C (p.Ser378Pro)
|
|
|
NM_000061.3(BTK):c.1144A>G (p.Lys382Glu)
|
|
|
NM_000061.3(BTK):c.1207A>C (p.Thr403Pro)
|
|
|
NM_000061.3(BTK):c.1229C>T (p.Thr410Ile)
|
rs1603005179
|
|
NM_000061.3(BTK):c.1239T>G (p.Phe413Leu)
|
|
|
NM_000061.3(BTK):c.1272G>T (p.Gln424His)
|
|
|
NM_000061.3(BTK):c.1279_1280delinsAA (p.Val427Lys)
|
|
|
NM_000061.3(BTK):c.1282G>C (p.Ala428Pro)
|
|
|
NM_000061.3(BTK):c.1349+2dup
|
rs2147428153
|
|
NM_000061.3(BTK):c.1349+6T>G
|
|
|
NM_000061.3(BTK):c.1387G>A (p.Val463Ile)
|
|
|
NM_000061.3(BTK):c.1391G>T (p.Cys464Phe)
|
rs2147427522
|
|
NM_000061.3(BTK):c.1418T>A (p.Ile473Asn)
|
rs1926475663
|
|
NM_000061.3(BTK):c.1431G>A (p.Met477Ile)
|
|
|
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)
|
rs1057519826
|
|
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)
|
rs1057519825
|
|
NM_000061.3(BTK):c.1445T>C (p.Leu482Pro)
|
rs1926474231
|
|
NM_000061.3(BTK):c.1468C>T (p.Arg490Cys)
|
|
|
NM_000061.3(BTK):c.1469G>A (p.Arg490His)
|
rs1926473502
|
|
NM_000061.3(BTK):c.1475G>C (p.Arg492Pro)
|
rs782338603
|
|
NM_000061.3(BTK):c.1487A>C (p.Gln496Pro)
|
rs2147427327
|
|
NM_000061.3(BTK):c.1492C>G (p.Leu498Val)
|
rs1555977807
|
|
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg)
|
rs128621200
|
|
NM_000061.3(BTK):c.1535T>G (p.Leu512Arg)
|
|
|
NM_000061.3(BTK):c.1553T>G (p.Leu518Arg)
|
|
|
NM_000061.3(BTK):c.1556A>C (p.His519Pro)
|
|
|
NM_000061.3(BTK):c.1559G>T (p.Arg520Leu)
|
|
|
NM_000061.3(BTK):c.1571C>T (p.Ala524Val)
|
|
|
NM_000061.3(BTK):c.1578C>A (p.Asn526Lys)
|
rs1569291237
|
|
NM_000061.3(BTK):c.1591G>T (p.Asp531Tyr)
|
|
|
NM_000061.3(BTK):c.1606A>G (p.Lys536Glu)
|
rs1603003195
|
|
NM_000061.3(BTK):c.1610T>C (p.Val537Ala)
|
|
|
NM_000061.3(BTK):c.1631+6T>G
|
rs2147425735
|
|
NM_000061.3(BTK):c.1631G>A (p.Arg544Lys)
|
|
|
NM_000061.3(BTK):c.1632-11_1632-6del
|
|
|
NM_000061.3(BTK):c.1632-3C>A
|
rs1926384033
|
|
NM_000061.3(BTK):c.1633T>C (p.Tyr545His)
|
|
|
NM_000061.3(BTK):c.163T>C (p.Ser55Pro)
|
rs1603019607
|
|
NM_000061.3(BTK):c.1664T>C (p.Val555Ala)
|
|
|
NM_000061.3(BTK):c.1690T>C (p.Ser564Pro)
|
rs2147424985
|
|
NM_000061.3(BTK):c.1720T>C (p.Phe574Leu)
|
rs1926379592
|
|
NM_000061.3(BTK):c.1730A>C (p.Lys577Thr)
|
rs2147424863
|
|
NM_000061.3(BTK):c.1743G>T (p.Trp581Cys)
|
rs1603002341
|
|
NM_000061.3(BTK):c.1751G>A (p.Gly584Glu)
|
rs1926361058
|
|
NM_000061.3(BTK):c.1759A>C (p.Met587Leu)
|
rs1603001822
|
|
NM_000061.3(BTK):c.1761G>A (p.Met587Ile)
|
|
|
NM_000061.3(BTK):c.1762T>C (p.Trp588Arg)
|
|
|
NM_000061.3(BTK):c.1774T>C (p.Ser592Pro)
|
rs1603001783
|
|
NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr)
|
rs1926358194
|
|
NM_000061.3(BTK):c.1778T>C (p.Leu593Pro)
|
rs2147424197
|
|
NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)
|
rs868967798
|
|
NM_000061.3(BTK):c.1819G>A (p.Ala607Thr)
|
|
|
NM_000061.3(BTK):c.1832C>A (p.Ala611Asp)
|
|
|
NM_000061.3(BTK):c.1843C>T (p.Arg615Cys)
|
rs1603001680
|
|
NM_000061.3(BTK):c.1844G>T (p.Arg615Leu)
|
rs1901797830
|
|
NM_000061.3(BTK):c.1864G>C (p.Ala622Pro)
|
rs2147424035
|
|
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu)
|
rs1926354581
|
|
NM_000061.3(BTK):c.1882A>T (p.Thr628Ser)
|
|
|
NM_000061.3(BTK):c.188G>C (p.Cys63Ser)
|
|
|
NM_000061.3(BTK):c.1909-1G>A
|
|
|
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
|
|
|
NM_000061.3(BTK):c.1976_*10del (p.Ser659_Ter660delinsXaa)
|
|
|
NM_000061.3(BTK):c.216T>G (p.Asn72Lys)
|
rs1555980789
|
|
NM_000061.3(BTK):c.239C>T (p.Pro80Leu)
|
|
|
NM_000061.3(BTK):c.240+2dup
|
|
|
NM_000061.3(BTK):c.240G>A (p.Pro80=)
|
rs1569296295
|
|
NM_000061.3(BTK):c.26T>A (p.Ile9Asn)
|
|
|
NM_000061.3(BTK):c.282C>G (p.Ile94Met)
|
rs2147444915
|
|
NM_000061.3(BTK):c.302C>T (p.Pro101Leu)
|
|
|
NM_000061.3(BTK):c.308A>C (p.Gln103Pro)
|
|
|
NM_000061.3(BTK):c.319G>T (p.Asp107Tyr)
|
rs1926977202
|
|
NM_000061.3(BTK):c.337G>A (p.Val113Ile)
|
rs2147443453
|
|
NM_000061.3(BTK):c.344C>T (p.Ser115Phe)
|
|
|
NM_000061.3(BTK):c.355G>A (p.Glu119Lys)
|
|
|
NM_000061.3(BTK):c.391G>A (p.Val131Ile)
|
|
|
NM_000061.3(BTK):c.41C>T (p.Ser14Phe)
|
rs1057520682
|
|
NM_000061.3(BTK):c.493T>C (p.Cys165Arg)
|
rs1603010344
|
|
NM_000061.3(BTK):c.518G>A (p.Gly173Glu)
|
|
|
NM_000061.3(BTK):c.520+15C>T
|
rs782697907
|
|
NM_000061.3(BTK):c.52A>G (p.Lys18Glu)
|
|
|
NM_000061.3(BTK):c.532G>A (p.Gly178Arg)
|
|
|
NM_000061.3(BTK):c.586C>A (p.Gln196Lys)
|
|
|
NM_000061.3(BTK):c.679C>A (p.Pro227Thr)
|
|
|
NM_000061.3(BTK):c.758G>A (p.Arg253Lys)
|
|
|
NM_000061.3(BTK):c.77A>G (p.Lys26Arg)
|
rs2147448262
|
|
NM_000061.3(BTK):c.839+4_839+7del
|
|
|
NM_000061.3(BTK):c.839+5G>T
|
|
|
NM_000061.3(BTK):c.839+5_839+6insAGAAATGTATGAGTAAGGCTGACTGTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_000061.3(BTK):c.840-3C>G
|
|
|
NM_000061.3(BTK):c.857T>C (p.Met286Thr)
|
|
|
NM_000061.3(BTK):c.863G>C (p.Arg288Pro)
|
|
|
NM_000061.3(BTK):c.867T>A (p.Ser289Arg)
|
rs1926588297
|
|
NM_000061.3(BTK):c.872C>A (p.Ala291Asp)
|
|
|
NM_000061.3(BTK):c.892G>A (p.Glu298Lys)
|
|
|
NM_000061.3(BTK):c.894+2dup
|
rs2147430924
|
|
NM_000061.3(BTK):c.895-12T>C
|
rs1926564625
|
|
NM_000061.3(BTK):c.905G>T (p.Gly302Val)
|
|
|
NM_000061.3(BTK):c.907G>A (p.Gly303Ser)
|
|
|
NM_000061.3(BTK):c.908G>A (p.Gly303Asp)
|
|
|
NM_000061.3(BTK):c.911T>G (p.Phe304Cys)
|
|
|
NM_000061.3(BTK):c.917T>C (p.Val306Ala)
|
|
|
NM_000061.3(BTK):c.934G>C (p.Ala312Pro)
|
rs1926563146
|
|
NM_000061.3(BTK):c.941A>G (p.Lys314Arg)
|
rs1386621585
|
|
NM_000061.3(BTK):c.978C>A (p.Asp326Glu)
|
|
|
NM_000061.3(BTK):c.980C>T (p.Pro327Leu)
|
rs1926556967
|
|
NM_000061.3(BTK):c.997C>T (p.His333Tyr)
|
|
|
NM_000061.3(BTK):c.998A>C (p.His333Pro)
|
|
|
NM_000061.3(BTK):c.998A>G (p.His333Arg)
|
rs193922133
|
|
NM_000306.4(POU1F1):c.-105T>C
|
rs886058915
|
|
NM_000306.4(POU1F1):c.143-64T>G
|
rs1064796954
|
|
NM_000306.4(POU1F1):c.439+12T>C
|
rs780655005
|
|
NM_000306.4(POU1F1):c.486C>T (p.Gly162=)
|
rs1706526416
|
|
NM_000329.3(RPE65):c.110G>C (p.Trp37Ser)
|
rs1557603965
|
|
NM_000329.3(RPE65):c.203A>C (p.His68Pro)
|
rs1557603862
|
|
NM_000329.3(RPE65):c.722A>G (p.His241Arg)
|
rs1557600322
|
|
NM_000515.5(GH1):c.11-8C>T
|
|
|
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu)
|
rs1907477324
|
|
NM_000515.5(GH1):c.302T>C (p.Leu101Pro)
|
rs1907452711
|
|
NM_000515.5(GH1):c.452T>C (p.Met151Thr)
|
rs1180054712
|
|
NM_000515.5(GH1):c.588G>A (p.Met196Ile)
|
rs1907385621
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
NM_000823.4(GHRHR):c.1213C>T (p.Arg405Cys)
|
|
|
NM_000823.4(GHRHR):c.1242G>A (p.Ser414=)
|
rs28371562
|
|
NM_000823.4(GHRHR):c.1250del (p.Lys417fs)
|
rs771060895
|
|
NM_000823.4(GHRHR):c.174C>A (p.Thr58=)
|
rs540740642
|
|
NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala)
|
rs775025721
|
|
NM_000823.4(GHRHR):c.279A>G (p.Lys93=)
|
rs1792444704
|
|
NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter)
|
rs147098353
|
|
NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu)
|
rs570281194
|
|
NM_000823.4(GHRHR):c.57+1G>T
|
rs2302022
|
|
NM_000823.4(GHRHR):c.640A>G (p.Met214Val)
|
rs535947130
|
|
NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp)
|
rs527387367
|
|
NM_000823.4(GHRHR):c.974+15T>G
|
rs1792566990
|
|
NM_003865.2(HESX1):c.-203_-200delAATT
|
rs886058754
|
|
NM_003865.2(HESX1):c.-245delT
|
rs886058755
|
|
NM_003865.3(HESX1):c.*192T>A
|
rs886058753
|
|
NM_003865.3(HESX1):c.131C>T (p.Pro44Leu)
|
|
|
NM_003865.3(HESX1):c.157+5G>A
|
|
|
NM_003865.3(HESX1):c.158G>A (p.Gly53Glu)
|
rs756899311
|
|
NM_003865.3(HESX1):c.163G>A (p.Asp55Asn)
|
rs2060466182
|
|
NM_003865.3(HESX1):c.163G>T (p.Asp55Tyr)
|
rs2060466182
|
|
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn)
|
rs141863326
|
|
NM_003865.3(HESX1):c.200G>C (p.Ser67Thr)
|
rs141863326
|
|
NM_003865.3(HESX1):c.218G>A (p.Ser73Asn)
|
|
|
NM_003865.3(HESX1):c.219C>T (p.Ser73=)
|
|
|
NM_003865.3(HESX1):c.224T>G (p.Val75Gly)
|
|
|
NM_003865.3(HESX1):c.25G>A (p.Ala9Thr)
|
|
|
NM_003865.3(HESX1):c.288A>C (p.Arg96Ser)
|
|
|
NM_003865.3(HESX1):c.305A>T (p.Glu102Val)
|
|
|
NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)
|
|
|
NM_003865.3(HESX1):c.316T>A (p.Tyr106Asn)
|
|
|
NM_003865.3(HESX1):c.316T>G (p.Tyr106Asp)
|
|
|
NM_003865.3(HESX1):c.332C>T (p.Pro111Leu)
|
|
|
NM_003865.3(HESX1):c.335G>C (p.Arg112Thr)
|
|
|
NM_003865.3(HESX1):c.354C>G (p.Asn118Lys)
|
|
|
NM_003865.3(HESX1):c.35G>A (p.Gly12Glu)
|
|
|
NM_003865.3(HESX1):c.373_374delinsGG (p.Asn125Gly)
|
rs2107564081
|
|
NM_003865.3(HESX1):c.3G>A (p.Met1Ile)
|
rs2107566038
|
|
NM_003865.3(HESX1):c.400G>C (p.Gly134Arg)
|
rs2107564014
|
|
NM_003865.3(HESX1):c.405C>G (p.Ile135Met)
|
rs190201411
|
|
NM_003865.3(HESX1):c.431A>C (p.Lys144Thr)
|
|
|
NM_003865.3(HESX1):c.439C>A (p.Leu147Ile)
|
|
|
NM_003865.3(HESX1):c.450C>G (p.Asp150Glu)
|
rs1385826685
|
|
NM_003865.3(HESX1):c.47C>T (p.Pro16Leu)
|
|
|
NM_003865.3(HESX1):c.50C>T (p.Ser17Leu)
|
|
|
NM_003865.3(HESX1):c.68T>C (p.Ile23Thr)
|
|
|
NM_005149.3(TBX19):c.*1109dup
|
rs550552066
|
|
NM_005149.3(TBX19):c.*1325T>C
|
rs886045520
|
|
NM_005149.3(TBX19):c.*243T>C
|
rs886045515
|
|
NM_005149.3(TBX19):c.*30G>A
|
rs778394368
|
|
NM_005149.3(TBX19):c.*363AG[1]
|
rs886045516
|
|
NM_005149.3(TBX19):c.*587G>C
|
rs1649574851
|
|
NM_005149.3(TBX19):c.*618CTC[1]
|
rs780261050
|
|
NM_005149.3(TBX19):c.*695G>A
|
rs891536291
|
|
NM_005149.3(TBX19):c.194A>G (p.Lys65Arg)
|
rs886045509
|
|
NM_005149.3(TBX19):c.403T>C (p.Trp135Arg)
|
rs1648935336
|
|
NM_005149.3(TBX19):c.524G>T (p.Gly175Val)
|
rs1648991442
|
|
NM_005149.3(TBX19):c.562G>A (p.Glu188Lys)
|
rs1159356681
|
|
NM_005149.3(TBX19):c.603+10_603+11insTTGTGT
|
rs746785887
|
|
NM_005149.3(TBX19):c.603+6_603+7insCTGTGT
|
rs746838916
|
|
NM_005149.3(TBX19):c.603+7GT[18]
|
rs57039241
|
|
NM_005149.3(TBX19):c.603+7GT[19]
|
rs57039241
|
|
NM_005149.3(TBX19):c.603+7GT[20]
|
rs57039241
|
|
NM_005149.3(TBX19):c.603+7GT[22]
|
rs57039241
|
|
NM_005149.3(TBX19):c.603+7GT[23]
|
rs57039241
|
|
NM_005149.3(TBX19):c.603+7GT[24]
|
rs57039241
|
|
NM_005149.3(TBX19):c.603+7GT[25]
|
rs57039241
|
|
NM_005149.3(TBX19):c.779C>T (p.Ser260Phe)
|
rs1215287541
|
|
NM_005149.3(TBX19):c.932G>A (p.Ser311Asn)
|
rs1649461770
|
|
NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del)
|
rs1927349741
|
|
NM_006261.5(PROP1):c.*434T>A
|
rs1772656639
|
|
NM_006261.5(PROP1):c.-260A>T
|
rs886060476
|
|
NM_006261.5(PROP1):c.131G>A (p.Arg44Lys)
|
rs1755702883
|
|
NM_006261.5(PROP1):c.152G>T (p.Gly51Val)
|
rs2233783
|
|
NM_006261.5(PROP1):c.20_22dup (p.Arg7dup)
|
rs1554182643
|
|
NM_006261.5(PROP1):c.340C>A (p.Gln114Lys)
|
rs1554182481
|
|
NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del)
|
rs1554182637
|
|
NM_006261.5(PROP1):c.51C>G (p.Val17=)
|
rs760446926
|
|
NM_006261.5(PROP1):c.592T>C (p.Leu198=)
|
rs780774091
|
|
NM_006261.5(PROP1):c.611del (p.Gly204fs)
|
rs1554182368
|
|
NM_006261.5(PROP1):c.618G>A (p.Leu206=)
|
rs765098843
|
|
NM_006261.5(PROP1):c.623dup (p.Cys208fs)
|
rs886060474
|
|
NM_006261.5(PROP1):c.629dup (p.Pro211fs)
|
rs761018422
|
|
NM_006261.5(PROP1):c.652dup (p.Ser218fs)
|
rs1554182363
|
|
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)
|
|
|
NM_021728.4(OTX2):c.*648C>G
|
rs886050556
|
|
NM_021728.4(OTX2):c.*933C>T
|
rs886050555
|
|
NM_021728.4(OTX2):c.*993G>C
|
rs1891845026
|
|
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln)
|
rs199799627
|
|
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro)
|
rs199799627
|
|
NM_021728.4(OTX2):c.380G>T (p.Arg127Leu)
|
rs199799627
|
|
NM_021728.4(OTX2):c.444G>A (p.Pro148=)
|
rs147896150
|
|
NM_021728.4(OTX2):c.464C>G (p.Ala155Gly)
|
rs200171280
|
|
NM_021728.4(OTX2):c.730G>A (p.Ala244Thr)
|
rs1594952158
|
|
NM_021728.4(OTX2):c.96G>T (p.Pro32=)
|
rs1892046623
|
|
NM_033343.4(LHX4):c.*17C>T
|
rs116482990
|
|
NM_033343.4(LHX4):c.*221G>T
|
rs1648926689
|
|
NM_033343.4(LHX4):c.*280T>C
|
rs1648929835
|
|
NM_033343.4(LHX4):c.*460G>C
|
rs988330056
|
|
NM_033343.4(LHX4):c.*8T>C
|
rs1320121590
|
|
NM_033343.4(LHX4):c.-172A>G
|
rs376657735
|
|
NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu)
|
|
|
NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe)
|
|
|
NM_033343.4(LHX4):c.269C>G (p.Thr90Arg)
|
rs773975101
|
|
NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr)
|
rs1553282666
|
|
NM_033343.4(LHX4):c.364C>T (p.Arg122Trp)
|
|
|
NM_033343.4(LHX4):c.37_39del (p.Val13del)
|
|
|
NM_033343.4(LHX4):c.451+15C>T
|
rs886045598
|
|
NM_033343.4(LHX4):c.451G>C (p.Asp151His)
|
|
|
NM_033343.4(LHX4):c.464C>T (p.Ala155Val)
|
rs746041842
|
|
NM_033343.4(LHX4):c.486C>A (p.Thr162=)
|
rs183432227
|
|
NM_033343.4(LHX4):c.569T>C (p.Leu190Pro)
|
|
|
NM_033343.4(LHX4):c.602T>C (p.Val201Ala)
|
rs1648658489
|
|
NM_033343.4(LHX4):c.621C>G (p.Asn207Lys)
|
rs2149266749
|
|
NM_033343.4(LHX4):c.743A>T (p.Asp248Val)
|
|
|
NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter)
|
|
|
NM_033343.4(LHX4):c.83C>T (p.Pro28Leu)
|
rs886045597
|
|
NM_033343.4(LHX4):c.90C>G (p.Cys30Trp)
|
rs147491286
|
|
NM_178138.6(LHX3):c.*1063C>T
|
rs1564280053
|
|
NM_178138.6(LHX3):c.*31C>G
|
rs776792156
|
|
NM_178138.6(LHX3):c.*409G>T
|
rs886063699
|
|
NM_178138.6(LHX3):c.*501A>T
|
rs886063698
|
|
NM_178138.6(LHX3):c.*518G>A
|
rs545939943
|
|
NM_178138.6(LHX3):c.*570C>A
|
rs1588623321
|
|
NM_178138.6(LHX3):c.*692C>T
|
rs1831495899
|
|
NM_178138.6(LHX3):c.*715C>A
|
rs1831495471
|
|
NM_178138.6(LHX3):c.*719C>T
|
rs1831495385
|
|
NM_178138.6(LHX3):c.*956C>T
|
rs886063695
|
|
NM_178138.6(LHX3):c.1003T>C (p.Ser335Pro)
|
|
|
NM_178138.6(LHX3):c.1092C>T (p.Asn364=)
|
rs886063702
|
|
NM_178138.6(LHX3):c.112A>G (p.Ile38Val)
|
rs1341469393
|
|
NM_178138.6(LHX3):c.597C>T (p.Arg199=)
|
rs369145566
|
|
NM_178138.6(LHX3):c.622C>T (p.Arg208Cys)
|
rs1280467564
|
|
NM_178138.6(LHX3):c.737A>G (p.Gln246Arg)
|
rs886063704
|
|
NM_178138.6(LHX3):c.79+1813G>C
|
rs886063706
|
|
NM_178138.6(LHX3):c.79+1927G>A
|
rs1831682631
|
|
NM_178138.6(LHX3):c.804G>A (p.Pro268=)
|
rs771201500
|
|
NM_178138.6(LHX3):c.819C>T (p.Tyr273=)
|
rs373923718
|
|
NM_178138.6(LHX3):c.915G>A (p.Gln305=)
|
rs548140963
|
|
NM_178138.6(LHX3):c.93_95dup (p.Ala32dup)
|
rs2131036367
|
|