NM_006261.5(PROP1):c.109+3G>A
|
rs4072924
|
0.54780
|
NM_005149.3(TBX19):c.*21T>A
|
rs3885717
|
0.43776
|
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser)
|
rs7536561
|
0.40777
|
NM_006261.5(PROP1):c.27T>C (p.Ala9=)
|
rs1135320
|
0.40746
|
NM_000061.3(BTK):c.1899C>T (p.Cys633=)
|
rs1135363
|
0.37760
|
NM_000061.3(BTK):c.*116A>C
|
rs700
|
0.35507
|
NM_000306.4(POU1F1):c.*140A>T
|
rs33936108
|
0.33253
|
NM_000061.3(BTK):c.*192G>A
|
rs1057403
|
0.32006
|
NM_006261.5(PROP1):c.-210A>C
|
rs13187293
|
0.30465
|
NM_005149.3(TBX19):c.*251T>C
|
rs1000533
|
0.26364
|
NM_006261.5(PROP1):c.*354G>A
|
rs4604209
|
0.24860
|
NM_178138.6(LHX3):c.79+1975G>A
|
rs2274116
|
0.23265
|
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr)
|
rs1800197
|
0.22589
|
NM_005149.3(TBX19):c.603+11G>T
|
rs12096093
|
0.14406
|
NM_000306.4(POU1F1):c.*139T>A
|
rs4988463
|
0.14040
|
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr)
|
rs4988496
|
0.12048
|
NM_000823.4(GHRHR):c.598-10T>C
|
rs35609199
|
0.10863
|
NM_033343.4(LHX4):c.778+14G>T
|
rs3806302
|
0.09243
|
NM_006261.5(PROP1):c.*123T>C
|
rs2233788
|
0.08086
|
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)
|
rs9878928
|
0.07568
|
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp)
|
rs4988498
|
0.07235
|
NM_000823.4(GHRHR):c.-45C>T
|
rs2302021
|
0.06644
|
NM_021728.4(OTX2):c.*10G>A
|
rs171978
|
0.06420
|
NM_000823.4(GHRHR):c.*221T>C
|
rs28371563
|
0.05985
|
NM_033343.4(LHX4):c.452-5T>C
|
rs2764449
|
0.05703
|
NM_000823.4(GHRHR):c.366+13T>G
|
rs4988499
|
0.04905
|
NM_000823.4(GHRHR):c.564C>T (p.His188=)
|
rs740336
|
0.04789
|
NM_033343.4(LHX4):c.450C>T (p.Asn150=)
|
rs16855642
|
0.04109
|
NM_000823.4(GHRHR):c.*147A>C
|
rs2586
|
0.04030
|
NM_005149.3(TBX19):c.*479G>C
|
rs1003315
|
0.03197
|
NM_000823.4(GHRHR):c.*236C>A
|
rs28371564
|
0.02852
|
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr)
|
rs2228078
|
0.02812
|
NM_000061.3(BTK):c.*334T>G
|
rs183674618
|
0.02721
|
NM_033343.4(LHX4):c.-120C>T
|
rs355625
|
0.02332
|
NM_005149.3(TBX19):c.*26C>G
|
rs143627386
|
0.02303
|
NM_005149.3(TBX19):c.*1155C>G
|
rs77202012
|
0.02199
|
NM_006261.5(PROP1):c.174G>A (p.Pro58=)
|
rs2233784
|
0.02188
|
NM_006261.5(PROP1):c.*419C>T
|
rs116225539
|
0.02154
|
NM_005149.3(TBX19):c.*469G>A
|
rs16860362
|
0.01991
|
NM_000061.3(BTK):c.954T>C (p.Ser318=)
|
rs5991926
|
0.01964
|
NM_005149.3(TBX19):c.917-14G>A
|
rs71632355
|
0.01897
|
NM_005149.3(TBX19):c.*186G>A
|
rs10918869
|
0.01378
|
NM_178138.6(LHX3):c.454+3C>T
|
rs34356735
|
0.01349
|
NM_033343.4(LHX4):c.*97T>G
|
rs145063714
|
0.01162
|
NM_178138.6(LHX3):c.108G>A (p.Gln36=)
|
rs33998096
|
0.01071
|
NM_178138.6(LHX3):c.*780C>T
|
rs4842130
|
0.01058
|
NM_021728.4(OTX2):c.459C>T (p.Ser153=)
|
rs34537598
|
0.00961
|
NM_005149.3(TBX19):c.105C>T (p.Asp35=)
|
rs34284181
|
0.00937
|
NM_021728.4(OTX2):c.97+12C>T
|
rs28757218
|
0.00889
|
NM_006261.5(PROP1):c.*52G>A
|
rs2233787
|
0.00869
|
NM_033343.4(LHX4):c.*286G>C
|
rs80203153
|
0.00865
|
NM_178138.6(LHX3):c.*747C>G
|
rs146752425
|
0.00714
|
NM_033343.4(LHX4):c.384C>T (p.Asp128=)
|
rs141139762
|
0.00712
|
NM_033343.4(LHX4):c.*130C>T
|
rs59623342
|
0.00680
|
NM_000306.4(POU1F1):c.666-5G>A
|
rs76296626
|
0.00674
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
NM_033343.4(LHX4):c.*445G>T
|
rs57069480
|
0.00607
|
NM_005149.3(TBX19):c.1122C>T (p.His374=)
|
rs34885709
|
0.00575
|
NM_005149.3(TBX19):c.*544G>A
|
rs144304383
|
0.00566
|
NM_006261.5(PROP1):c.-302G>A
|
rs150629697
|
0.00555
|
NM_005149.3(TBX19):c.761T>C (p.Val254Ala)
|
rs77425733
|
0.00523
|
NM_178138.6(LHX3):c.*825C>A
|
rs3739470
|
0.00510
|
NM_005149.3(TBX19):c.1053-11dup
|
rs138050448
|
0.00465
|
NM_033343.4(LHX4):c.63T>C (p.Gly21=)
|
rs75857235
|
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.*267A>G
|
rs146307337
|
0.00347
|
NM_000061.3(BTK):c.*221G>T
|
rs1122765
|
0.00340
|
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_000823.4(GHRHR):c.673G>A (p.Val225Ile)
|
rs28371560
|
0.00225
|
NM_006261.5(PROP1):c.630A>C (p.Pro210=)
|
rs535993919
|
0.00212
|
NM_178138.6(LHX3):c.*185T>A
|
rs144976921
|
0.00202
|
NM_005149.3(TBX19):c.-21G>A
|
rs187423054
|
0.00201
|
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_033343.4(LHX4):c.*289G>A
|
rs74970014
|
0.00180
|
NM_178138.6(LHX3):c.252-4G>T
|
rs372058376
|
0.00165
|
NM_033343.4(LHX4):c.924T>C (p.Tyr308=)
|
rs146655496
|
0.00159
|
NM_003865.2(HESX1):c.-276T>G
|
rs983243
|
0.00148
|
NM_033343.4(LHX4):c.*119T>C
|
rs180725260
|
0.00142
|
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_000061.3(BTK):c.615G>T (p.Glu205Asp)
|
rs35877704
|
0.00114
|
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_178138.6(LHX3):c.*791G>A
|
rs12237402
|
0.00091
|
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.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_005149.3(TBX19):c.*1234C>T
|
rs149712948
|
0.00066
|
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_021728.4(OTX2):c.*779G>A
|
rs138197536
|
0.00041
|
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_033343.4(LHX4):c.90C>T (p.Cys30=)
|
rs147491286
|
0.00030
|
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_006261.5(PROP1):c.335G>A (p.Arg112Gln)
|
rs201266211
|
0.00026
|
NM_033343.4(LHX4):c.37G>A (p.Val13Ile)
|
rs146664099
|
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_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_000306.4(POU1F1):c.27T>C (p.Ala9=)
|
rs35560664
|
0.00022
|
NM_021728.4(OTX2):c.273+11T>C
|
rs371958059
|
0.00021
|
NM_178138.6(LHX3):c.*309C>T
|
rs1040969252
|
0.00020
|
NM_000823.4(GHRHR):c.272C>T (p.Ala91Val)
|
rs144372265
|
0.00019
|
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_033343.4(LHX4):c.849A>C (p.Gly283=)
|
rs373879455
|
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_021728.4(OTX2):c.*316G>A
|
rs142727455
|
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_021728.4(OTX2):c.641C>A (p.Thr214Asn)
|
rs150982073
|
0.00013
|
NM_178138.6(LHX3):c.*456G>A
|
rs150382420
|
0.00013
|
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_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_000061.3(BTK):c.895-10G>A
|
rs370812397
|
0.00010
|
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_000823.4(GHRHR):c.*29A>G
|
rs759106817
|
0.00009
|
NM_005149.3(TBX19):c.*954C>T
|
rs140853969
|
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_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_033343.4(LHX4):c.774C>T (p.Phe258=)
|
rs565803862
|
0.00007
|
NM_178138.6(LHX3):c.776-15C>A
|
rs376405589
|
0.00007
|
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_021728.4(OTX2):c.*966A>G
|
rs57390094
|
0.00006
|
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr)
|
rs145433128
|
0.00006
|
NM_033343.4(LHX4):c.398T>C (p.Met133Thr)
|
rs371899398
|
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_003865.3(HESX1):c.*48G>A
|
rs372550682
|
0.00005
|
NM_005149.3(TBX19):c.*746A>G
|
rs553418600
|
0.00005
|
NM_006261.5(PROP1):c.*37C>T
|
rs749918250
|
0.00005
|
NM_021728.4(OTX2):c.840T>C (p.Ala280=)
|
rs201396096
|
0.00005
|
NM_178138.6(LHX3):c.*161C>A
|
rs886063701
|
0.00005
|
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_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_021728.4(OTX2):c.406A>G (p.Ser136Gly)
|
rs770291855
|
0.00004
|
NM_033343.4(LHX4):c.*154A>G
|
rs747210761
|
0.00004
|
NM_033343.4(LHX4):c.223G>A (p.Val75Ile)
|
rs749318884
|
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.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_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.151A>G (p.Thr51Ala)
|
rs141571344
|
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_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.79+1814G>T
|
rs569646536
|
0.00003
|
NM_178138.6(LHX3):c.804G>C (p.Pro268=)
|
rs771201500
|
0.00003
|
NM_005149.3(TBX19):c.*88G>A
|
rs980005154
|
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.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_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.183T>C (p.His61=)
|
rs374187836
|
0.00001
|
NM_003865.3(HESX1):c.59C>G (p.Ser20Cys)
|
rs747106663
|
0.00001
|
NM_005149.3(TBX19):c.*1266C>T
|
rs544283210
|
0.00001
|
NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala)
|
rs144416092
|
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_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.334C>T (p.Arg112Ter)
|
rs766673446
|
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.1160A>C (p.His387Pro)
|
rs200187045
|
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.812G>A (p.Gly271Asp)
|
rs758724505
|
0.00001
|
NM_000061.3(BTK):c.*334TG[4]
|
rs200445244
|
|
NM_000061.3(BTK):c.-87C>T
|
rs1927601892
|
|
NM_000061.3(BTK):c.520+15C>T
|
rs782697907
|
|
NM_000306.4(POU1F1):c.*138T>A
|
rs190287993
|
|
NM_000306.4(POU1F1):c.*213=
|
rs6792500
|
|
NM_000306.4(POU1F1):c.-105T>C
|
rs886058915
|
|
NM_000306.4(POU1F1):c.439+12T>C
|
rs780655005
|
|
NM_000306.4(POU1F1):c.486C>T (p.Gly162=)
|
rs1706526416
|
|
NM_000515.4(GH1):c.-68A>G
|
rs6171
|
|
NM_000515.5(GH1):c.-63A>C
|
rs695
|
|
NM_000515.5(GH1):c.-63A>T
|
rs695
|
|
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_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.*922GAAA[5]
|
rs67726248
|
|
NM_005149.3(TBX19):c.194A>G (p.Lys65Arg)
|
rs886045509
|
|
NM_005149.3(TBX19):c.524G>T (p.Gly175Val)
|
rs1648991442
|
|
NM_005149.3(TBX19):c.603+10_603+11insTT
|
rs373712384
|
|
NM_005149.3(TBX19):c.603+10_603+11insTTGT
|
rs72294615
|
|
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_006261.5(PROP1):c.*434T>A
|
rs1772656639
|
|
NM_006261.5(PROP1):c.-260A>T
|
rs886060476
|
|
NM_006261.5(PROP1):c.109+1G>T
|
rs1214465435
|
|
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)
|
rs2233783
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006261.5(PROP1):c.340C>A (p.Gln114Lys)
|
rs1554182481
|
|
NM_006261.5(PROP1):c.592T>C (p.Leu198=)
|
rs780774091
|
|
NM_006261.5(PROP1):c.618G>A (p.Leu206=)
|
rs765098843
|
|
NM_006261.5(PROP1):c.623dup (p.Cys208fs)
|
rs886060474
|
|
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>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.96G>T (p.Pro32=)
|
rs1892046623
|
|
NM_033343.4(LHX4):c.*17C>A
|
rs116482990
|
|
NM_033343.4(LHX4):c.*17C>T
|
rs116482990
|
|
NM_033343.4(LHX4):c.*221G>T
|
rs1648926689
|
|
NM_033343.4(LHX4):c.*26C>T
|
rs138054044
|
|
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.269C>G (p.Thr90Arg)
|
rs773975101
|
|
NM_033343.4(LHX4):c.451+15C>T
|
rs886045598
|
|
NM_033343.4(LHX4):c.486C>A (p.Thr162=)
|
rs183432227
|
|
NM_033343.4(LHX4):c.83C>T (p.Pro28Leu)
|
rs886045597
|
|
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.1092C>T (p.Asn364=)
|
rs886063702
|
|
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.915G>A (p.Gln305=)
|
rs548140963
|
|