NM_000030.3(AGXT):c.846+170C>T
|
rs4675793
|
0.98913
|
NM_012203.2(GRHPR):c.404+291T>C
|
rs2768657
|
0.97430
|
NM_012203.2(GRHPR):c.288-11C>T
|
rs2736664
|
0.92549
|
NM_012203.2(GRHPR):c.494-68A>G
|
rs309459
|
0.86126
|
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)
|
rs309458
|
0.85807
|
NM_000030.3(AGXT):c.777-44A>G
|
rs12464426
|
0.79262
|
NM_000030.3(AGXT):c.*289A>C
|
rs4344931
|
0.74589
|
NM_012203.2(GRHPR):c.404+153T>C
|
rs2768658
|
0.60907
|
NM_000030.3(AGXT):c.846+52G>A
|
rs12695032
|
0.43208
|
NM_138413.4(HOGA1):c.*445A>G
|
rs1812286
|
0.40584
|
NM_138413.4(HOGA1):c.*711G>A
|
rs11189295
|
0.40516
|
NM_138413.4(HOGA1):c.*498G>A
|
rs2018017
|
0.40451
|
NM_138413.4(HOGA1):c.*355C>T
|
rs1977642
|
0.40312
|
NM_000030.3(AGXT):c.595+100G>A
|
rs12997245
|
0.35955
|
NM_138413.4(HOGA1):c.835-120A>G
|
rs1124116
|
0.34185
|
NM_000030.3(AGXT):c.777-45C>T
|
rs12478859
|
0.32606
|
NM_000030.3(AGXT):c.*41C>A
|
rs4273214
|
0.30802
|
NM_000030.3(AGXT):c.943-117C>T
|
rs10199038
|
0.30790
|
NM_000030.3(AGXT):c.846+199G>A
|
rs13030904
|
0.30492
|
NM_138413.4(HOGA1):c.912C>A (p.Ala304=)
|
rs12261752
|
0.29673
|
NM_000030.3(AGXT):c.524+91C>T
|
rs10196315
|
0.29513
|
NM_012203.2(GRHPR):c.-92C>T
|
rs4878690
|
0.27923
|
NM_138413.4(HOGA1):c.*313A>C
|
rs933057
|
0.26438
|
NM_138413.4(HOGA1):c.212-21A>G
|
rs11817730
|
0.19877
|
NM_138413.4(HOGA1):c.700+67G>A
|
rs2297643
|
0.16278
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_000030.3(AGXT):c.264C>T (p.Ala88=)
|
rs35698882
|
0.15328
|
NM_000030.3(AGXT):c.942+127C>T
|
rs111576306
|
0.15015
|
NM_000030.3(AGXT):c.680+17C>T
|
rs11693280
|
0.14843
|
NM_000030.3(AGXT):c.358+13C>T
|
rs34995778
|
0.14826
|
NM_138413.4(HOGA1):c.469-25C>T
|
rs7078003
|
0.14530
|
NM_012203.2(GRHPR):c.579= (p.Ala193=)
|
rs309458
|
0.14193
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
NM_000030.3(AGXT):c.847-83G>T
|
rs11894759
|
0.12217
|
NM_138413.4(HOGA1):c.469-31C>T
|
rs75929214
|
0.09102
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
NM_012203.2(GRHPR):c.*146A>G
|
rs1057507
|
0.03576
|
NM_138413.4(HOGA1):c.*360C>T
|
rs114372258
|
0.03441
|
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)
|
rs41290456
|
0.02716
|
NM_138413.4(HOGA1):c.-279G>A
|
rs41309988
|
0.02511
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)
|
rs34885252
|
0.02454
|
NM_000030.2(AGXT):c.-46G>A
|
rs73106672
|
0.02150
|
NM_138413.4(HOGA1):c.834+42G>T
|
rs115279832
|
0.01504
|
NM_000030.3(AGXT):c.705G>A (p.Thr235=)
|
rs35977912
|
0.01476
|
NM_000030.3(AGXT):c.681-94G>A
|
rs141154272
|
0.01343
|
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln)
|
rs12002324
|
0.01219
|
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
NM_138413.4(HOGA1):c.777G>A (p.Thr259=)
|
rs34820265
|
0.01024
|
NM_012203.2(GRHPR):c.493+9C>T
|
rs41303225
|
0.00873
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_138413.4(HOGA1):c.*94C>T
|
rs116711005
|
0.00688
|
NM_000030.3(AGXT):c.680+130C>T
|
rs78178548
|
0.00508
|
NM_000030.3(AGXT):c.166-14C>T
|
rs180177176
|
0.00486
|
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)
|
rs142356700
|
0.00474
|
NM_012203.2(GRHPR):c.493+27C>T
|
rs146896070
|
0.00432
|
NM_000030.3(AGXT):c.*19G>A
|
rs143458283
|
0.00409
|
NM_000030.3(AGXT):c.976G>A (p.Val326Ile)
|
rs115057148
|
0.00394
|
NM_138413.4(HOGA1):c.700+7C>T
|
rs57616820
|
0.00367
|
NM_138413.4(HOGA1):c.*101C>T
|
rs41290458
|
0.00319
|
NM_000030.3(AGXT):c.424-16G>A
|
rs74895925
|
0.00239
|
NM_000030.3(AGXT):c.732C>A (p.Ile244=)
|
rs147106773
|
0.00234
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
NM_000030.3(AGXT):c.680+75G>A
|
rs117619103
|
0.00233
|
NM_000030.3(AGXT):c.423+45T>G
|
rs117357855
|
0.00232
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
NM_000030.3(AGXT):c.423+29C>T
|
rs117043148
|
0.00230
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_012203.2(GRHPR):c.512G>A (p.Arg171His)
|
rs200106110
|
0.00143
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_138413.4(HOGA1):c.*68C>T
|
rs551593998
|
0.00112
|
NM_000030.3(AGXT):c.573C>T (p.Thr191=)
|
rs146483092
|
0.00108
|
NM_012203.2(GRHPR):c.598+145G>T
|
rs72739643
|
0.00108
|
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)
|
rs144007007
|
0.00095
|
NM_138413.4(HOGA1):c.*425T>C
|
rs189957405
|
0.00092
|
NM_000030.3(AGXT):c.166-56C>T
|
rs114401766
|
0.00090
|
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe)
|
rs147185003
|
0.00088
|
NM_012203.2(GRHPR):c.234C>T (p.Ile78=)
|
rs143337459
|
0.00082
|
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)
|
rs141800325
|
0.00078
|
NM_000030.3(AGXT):c.805C>T (p.Leu269=)
|
rs151131723
|
0.00070
|
NM_138413.4(HOGA1):c.708G>T (p.Val236=)
|
rs61731946
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000030.3(AGXT):c.*39G>A
|
rs369979466
|
0.00061
|
NM_138413.4(HOGA1):c.*950G>A
|
rs190392004
|
0.00058
|
NM_138413.4(HOGA1):c.*292C>T
|
rs771988623
|
0.00056
|
NM_138413.4(HOGA1):c.*850G>T
|
rs560555907
|
0.00055
|
NM_138413.4(HOGA1):c.*55T>C
|
rs763365957
|
0.00052
|
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)
|
rs151185188
|
0.00051
|
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
|
rs116455504
|
0.00047
|
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)
|
rs148094180
|
0.00044
|
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)
|
rs142969817
|
0.00043
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
NM_000030.3(AGXT):c.165+40A>C
|
rs57017537
|
0.00038
|
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser)
|
rs180177191
|
0.00038
|
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)
|
rs146227450
|
0.00038
|
NM_000030.3(AGXT):c.424-4T>C
|
rs369523966
|
0.00036
|
NM_000030.3(AGXT):c.777-17C>A
|
rs112319664
|
0.00036
|
NM_138413.4(HOGA1):c.*289C>T
|
rs540860054
|
0.00035
|
NM_138413.4(HOGA1):c.701-18G>C
|
rs201596675
|
0.00034
|
NM_000030.3(AGXT):c.165+44T>A
|
rs58120546
|
0.00033
|
NM_012203.2(GRHPR):c.*24G>A
|
rs202111075
|
0.00031
|
NM_138413.4(HOGA1):c.603+19G>A
|
rs370990433
|
0.00031
|
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)
|
rs150812556
|
0.00030
|
NM_012203.2(GRHPR):c.387C>A (p.Ala129=)
|
rs529454212
|
0.00028
|
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr)
|
rs143596402
|
0.00028
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)
|
rs369339903
|
0.00025
|
NM_012203.2(GRHPR):c.345A>T (p.Ala115=)
|
rs147053190
|
0.00024
|
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln)
|
rs199560759
|
0.00024
|
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe)
|
rs202120724
|
0.00024
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr)
|
rs201630144
|
0.00021
|
NM_000030.3(AGXT):c.489G>A (p.Leu163=)
|
rs147601535
|
0.00019
|
NM_012203.2(GRHPR):c.381G>A (p.Pro127=)
|
rs151336686
|
0.00019
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp)
|
rs142835989
|
0.00018
|
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr)
|
rs573292460
|
0.00017
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_000030.3(AGXT):c.524+6C>A
|
rs770992934
|
0.00016
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
NM_138413.4(HOGA1):c.579G>A (p.Val193=)
|
rs142057128
|
0.00016
|
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile)
|
rs189919790
|
0.00016
|
NM_138413.4(HOGA1):c.771C>T (p.Cys257=)
|
rs550989147
|
0.00015
|
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)
|
rs148778319
|
0.00014
|
NM_138413.4(HOGA1):c.*593G>A
|
rs564823369
|
0.00014
|
NM_138413.4(HOGA1):c.*290G>A
|
rs144890621
|
0.00013
|
NM_000030.3(AGXT):c.596-7T>C
|
rs368799073
|
0.00012
|
NM_000030.3(AGXT):c.1071+12C>T
|
rs375775541
|
0.00011
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000030.3(AGXT):c.885G>A (p.Ala295=)
|
rs377132245
|
0.00011
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val)
|
rs150805048
|
0.00011
|
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln)
|
rs146603229
|
0.00011
|
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)
|
rs369950120
|
0.00011
|
NM_138413.4(HOGA1):c.594C>T (p.Ser198=)
|
rs374733151
|
0.00011
|
NM_138413.4(HOGA1):c.700+9C>T
|
rs375091787
|
0.00011
|
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr)
|
rs116527624
|
0.00010
|
NM_138413.4(HOGA1):c.934G>A (p.Ala312Thr)
|
rs115431683
|
0.00010
|
NM_000030.3(AGXT):c.942+12C>G
|
rs202001799
|
0.00009
|
NM_138413.4(HOGA1):c.*1047T>C
|
rs537101942
|
0.00009
|
NM_138413.4(HOGA1):c.284G>A (p.Arg95His)
|
rs754634699
|
0.00009
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
NM_000030.3(AGXT):c.567C>T (p.Gly189=)
|
rs373612587
|
0.00008
|
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)
|
rs370395134
|
0.00008
|
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)
|
rs185747820
|
0.00008
|
NM_138413.4(HOGA1):c.*550A>G
|
rs991121870
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)
|
rs774654020
|
0.00007
|
NM_012203.2(GRHPR):c.180C>T (p.Ser60=)
|
rs139689525
|
0.00007
|
NM_012203.2(GRHPR):c.846C>G (p.Leu282=)
|
rs146293016
|
0.00007
|
NM_138413.4(HOGA1):c.*186C>T
|
rs576078709
|
0.00007
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_000030.3(AGXT):c.*160G>A
|
rs776483024
|
0.00006
|
NM_000030.3(AGXT):c.1002C>T (p.Asp334=)
|
rs370897272
|
0.00006
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
NM_000030.3(AGXT):c.214A>C (p.Asn72His)
|
rs754637713
|
0.00006
|
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)
|
rs376844297
|
0.00006
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000030.3(AGXT):c.762C>T (p.Asp254=)
|
rs375038017
|
0.00006
|
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)
|
rs376684240
|
0.00006
|
NM_000030.3(AGXT):c.888G>A (p.Ala296=)
|
rs979513298
|
0.00006
|
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala)
|
rs761847384
|
0.00006
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
NM_012203.2(GRHPR):c.84-4G>A
|
rs778578725
|
0.00006
|
NM_138413.4(HOGA1):c.424C>T (p.Arg142Cys)
|
rs201450556
|
0.00006
|
NM_138413.4(HOGA1):c.802C>T (p.Leu268=)
|
rs201910899
|
0.00006
|
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)
|
rs201683794
|
0.00006
|
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)
|
rs770050262
|
0.00006
|
NM_000030.3(AGXT):c.1170G>A (p.Lys390=)
|
rs899277137
|
0.00005
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
NM_012203.2(GRHPR):c.342C>T (p.Leu114=)
|
rs374108537
|
0.00005
|
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)
|
rs186922220
|
0.00005
|
NM_138413.4(HOGA1):c.*352T>C
|
rs545072905
|
0.00005
|
NM_138413.4(HOGA1):c.701-7C>T
|
rs372897096
|
0.00005
|
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln)
|
rs201145417
|
0.00005
|
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)
|
rs367741588
|
0.00005
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_000030.3(AGXT):c.484G>A (p.Val162Met)
|
rs147497484
|
0.00004
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000030.3(AGXT):c.795C>T (p.Pro265=)
|
rs760015739
|
0.00004
|
NM_000030.3(AGXT):c.930C>T (p.Phe310=)
|
rs886055842
|
0.00004
|
NM_012203.2(GRHPR):c.255C>T (p.Ile85=)
|
rs372985143
|
0.00004
|
NM_012203.2(GRHPR):c.384G>A (p.Glu128=)
|
rs372351685
|
0.00004
|
NM_138413.4(HOGA1):c.216C>T (p.Phe72=)
|
rs780606715
|
0.00004
|
NM_138413.4(HOGA1):c.269T>A (p.Leu90His)
|
rs373226228
|
0.00004
|
NM_138413.4(HOGA1):c.309C>T (p.Asn103=)
|
rs772566254
|
0.00004
|
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val)
|
rs149896778
|
0.00004
|
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe)
|
rs745919223
|
0.00004
|
NM_138413.4(HOGA1):c.538G>A (p.Val180Met)
|
rs114177505
|
0.00004
|
NM_138413.4(HOGA1):c.720C>T (p.Cys240=)
|
rs183301169
|
0.00004
|
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu)
|
rs368276974
|
0.00004
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
NM_000030.3(AGXT):c.-14G>A
|
rs376396832
|
0.00003
|
NM_000030.3(AGXT):c.1071+13G>A
|
rs758413374
|
0.00003
|
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)
|
rs180177173
|
0.00003
|
NM_000030.3(AGXT):c.27C>A (p.Thr9=)
|
rs180177188
|
0.00003
|
NM_000030.3(AGXT):c.423+12G>A
|
rs574091775
|
0.00003
|
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
0.00003
|
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)
|
rs536205988
|
0.00003
|
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser)
|
rs180177260
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_012203.2(GRHPR):c.215-13_215-7del
|
rs780759944
|
0.00003
|
NM_012203.2(GRHPR):c.252C>A (p.Gly84=)
|
rs139595138
|
0.00003
|
NM_012203.2(GRHPR):c.554G>A (p.Arg185His)
|
rs1327662246
|
0.00003
|
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met)
|
rs750954346
|
0.00003
|
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)
|
rs180177323
|
0.00003
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
NM_138413.4(HOGA1):c.812G>A (p.Arg271His)
|
rs750974539
|
0.00003
|
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys)
|
rs149150736
|
0.00003
|
NM_138413.4(HOGA1):c.909C>T (p.Arg303=)
|
rs764469579
|
0.00003
|
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)
|
rs777828182
|
0.00003
|
NM_138413.4(HOGA1):c.953G>A (p.Arg318His)
|
rs201347931
|
0.00003
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)
|
rs180177253
|
0.00002
|
NM_000030.3(AGXT):c.942+14T>G
|
rs886055843
|
0.00002
|
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)
|
rs377072887
|
0.00002
|
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys)
|
rs370733771
|
0.00002
|
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)
|
rs180177316
|
0.00002
|
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu)
|
rs74692381
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_012203.2(GRHPR):c.866-2A>G
|
rs200316691
|
0.00002
|
NM_138413.4(HOGA1):c.*109C>T
|
rs534886813
|
0.00002
|
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)
|
rs758304537
|
0.00002
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg)
|
rs200529020
|
0.00002
|
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg)
|
rs778171847
|
0.00002
|
NM_138413.4(HOGA1):c.39G>A (p.Gly13=)
|
rs200127255
|
0.00002
|
NM_000030.3(AGXT):c.*285G>A
|
rs567385270
|
0.00001
|
NM_000030.3(AGXT):c.*52C>G
|
rs547538869
|
0.00001
|
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr)
|
rs749568989
|
0.00001
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
|
rs569643246
|
0.00001
|
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro)
|
rs180177165
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000030.3(AGXT):c.1174C>T (p.Leu392=)
|
rs180177167
|
0.00001
|
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)
|
rs180177168
|
0.00001
|
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu)
|
rs180177170
|
0.00001
|
NM_000030.3(AGXT):c.172G>A (p.Asp58Asn)
|
rs774651961
|
0.00001
|
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys)
|
rs767586362
|
0.00001
|
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)
|
rs113879010
|
0.00001
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala)
|
rs1334695460
|
0.00001
|
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr)
|
rs180177192
|
0.00001
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000030.3(AGXT):c.358+2T>G
|
rs113681235
|
0.00001
|
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)
|
rs180177210
|
0.00001
|
NM_000030.3(AGXT):c.371A>C (p.His124Pro)
|
rs180177211
|
0.00001
|
NM_000030.3(AGXT):c.375G>C (p.Pro125=)
|
rs754716643
|
0.00001
|
NM_000030.3(AGXT):c.40C>T (p.Leu14=)
|
rs2058975287
|
0.00001
|
NM_000030.3(AGXT):c.450G>A (p.Leu150=)
|
rs752385061
|
0.00001
|
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro)
|
rs180177230
|
0.00001
|
NM_000030.3(AGXT):c.510G>A (p.Gly170=)
|
rs965707125
|
0.00001
|
NM_000030.3(AGXT):c.525-1G>A
|
rs180177234
|
0.00001
|
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
|
rs565927450
|
0.00001
|
NM_000030.3(AGXT):c.596-10C>T
|
rs890462970
|
0.00001
|
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)
|
rs180177246
|
0.00001
|
NM_000030.3(AGXT):c.660C>T (p.Ile220=)
|
rs780078312
|
0.00001
|
NM_000030.3(AGXT):c.676G>A (p.Ala226Thr)
|
rs749577985
|
0.00001
|
NM_000030.3(AGXT):c.679_680+2del
|
rs180177255
|
0.00001
|
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile)
|
rs754037121
|
0.00001
|
NM_000030.3(AGXT):c.743C>T (p.Ala248Val)
|
rs372482918
|
0.00001
|
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)
|
rs786204545
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
NM_000030.3(AGXT):c.783T>A (p.His261Gln)
|
rs180177269
|
0.00001
|
NM_000030.3(AGXT):c.846+1G>T
|
rs180177281
|
0.00001
|
NM_000030.3(AGXT):c.846+5A>G
|
rs200916936
|
0.00001
|
NM_000030.3(AGXT):c.882C>T (p.Ala294=)
|
rs757494386
|
0.00001
|
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys)
|
rs886055841
|
0.00001
|
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)
|
rs180177294
|
0.00001
|
NM_000030.3(AGXT):c.942G>A (p.Pro314=)
|
rs553429935
|
0.00001
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
NM_000030.3(AGXT):c.981C>T (p.Pro327=)
|
rs760409952
|
0.00001
|
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)
|
rs180177304
|
0.00001
|
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln)
|
rs760538945
|
0.00001
|
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro)
|
rs180177305
|
0.00001
|
NM_012203.2(GRHPR):c.214+1G>T
|
rs1244822375
|
0.00001
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)
|
rs771019056
|
0.00001
|
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)
|
rs180177312
|
0.00001
|
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys)
|
rs760782027
|
0.00001
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00001
|
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu)
|
rs1823271331
|
0.00001
|
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)
|
rs771231175
|
0.00001
|
NM_012203.2(GRHPR):c.636C>T (p.Ile212=)
|
rs548848730
|
0.00001
|
NM_012203.2(GRHPR):c.735-2del
|
rs1257080057
|
0.00001
|
NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly)
|
rs180177318
|
0.00001
|
NM_012203.2(GRHPR):c.743T>A (p.Val248Asp)
|
rs796052079
|
0.00001
|
NM_012203.2(GRHPR):c.756C>T (p.Asp252=)
|
rs777753552
|
0.00001
|
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu)
|
rs770585067
|
0.00001
|
NM_012203.2(GRHPR):c.762G>A (p.Leu254=)
|
rs201872828
|
0.00001
|
NM_012203.2(GRHPR):c.771C>T (p.Ala257=)
|
rs367671150
|
0.00001
|
NM_012203.2(GRHPR):c.865+1G>T
|
rs771990662
|
0.00001
|
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr)
|
rs758049256
|
0.00001
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)
|
rs1331106064
|
0.00001
|
NM_138413.4(HOGA1):c.-224G>A
|
rs1176162564
|
0.00001
|
NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter)
|
rs746419489
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala)
|
rs1380918472
|
0.00001
|
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)
|
rs267606763
|
0.00001
|
NM_138413.4(HOGA1):c.212-6T>C
|
rs372066473
|
0.00001
|
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)
|
rs796052084
|
0.00001
|
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys)
|
rs772441887
|
0.00001
|
NM_138413.4(HOGA1):c.260G>C (p.Ser87Thr)
|
rs1167209340
|
0.00001
|
NM_138413.4(HOGA1):c.290G>A (p.Arg97His)
|
rs752252343
|
0.00001
|
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)
|
rs777208958
|
0.00001
|
NM_138413.4(HOGA1):c.317T>A (p.Leu106Gln)
|
rs892512382
|
0.00001
|
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser)
|
rs778696295
|
0.00001
|
NM_138413.4(HOGA1):c.341-1G>A
|
rs1554874130
|
0.00001
|
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val)
|
rs374367160
|
0.00001
|
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala)
|
rs776292240
|
0.00001
|
NM_138413.4(HOGA1):c.420C>T (p.Tyr140=)
|
rs749899995
|
0.00001
|
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)
|
rs777601935
|
0.00001
|
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln)
|
rs796052090
|
0.00001
|
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)
|
rs779492256
|
0.00001
|
NM_138413.4(HOGA1):c.700+2T>G
|
rs990830655
|
0.00001
|
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr)
|
rs758795356
|
0.00001
|
NM_138413.4(HOGA1):c.832G>A (p.Ala278Thr)
|
rs748335042
|
0.00001
|
NM_138413.4(HOGA1):c.834+1G>T
|
rs749315029
|
0.00001
|
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile)
|
rs756489804
|
0.00001
|
NM_138413.4(HOGA1):c.841C>T (p.Arg281Trp)
|
rs764224799
|
0.00001
|
NM_138413.4(HOGA1):c.933C>T (p.Pro311=)
|
rs561984280
|
0.00001
|
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)
|
rs777046879
|
0.00001
|
Multiple alleles
|
|
|
NC_000002.11:g.241816942_241835597del
|
|
|
NC_000002.12:g.(?_239048168)_(240879119_?)del
|
|
|
NG_008005.1:g.(14407_14970)_(15375_?)del
|
|
|
NG_008005.1:g.(7706_9235)_(15375_?)del
|
|
|
NG_008005.1:g.(?_5001)_(11460_12190)del
|
|
|
NG_008005.1:g.(?_5001)_(9305_10233)del
|
|
|
NG_008005.1:g.8384_8763AACATGCAGGNGGAGGAGGGTGAGAGTTCGTG[29-32]
|
|
|
NM_000030.2(AGXT):c.1072_1079del
|
|
|
NM_000030.2(AGXT):c.[299_307dup;308G>A]
|
|
|
NM_000030.2(AGXT):c.[829_830insA;830C>A]
|
|
|
NM_000030.2:c.1_524del
|
|
|
NM_000030.3(AGXT):c.*162A>G
|
rs886055844
|
|
NM_000030.3(AGXT):c.*194A>T
|
rs2059043450
|
|
NM_000030.3(AGXT):c.-23G>A
|
rs116057889
|
|
NM_000030.3(AGXT):c.-24C>G
|
rs192950967
|
|
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)
|
rs180177155
|
|
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
|
|
|
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter)
|
rs756437332
|
|
NM_000030.3(AGXT):c.1036G>A (p.Glu346Lys)
|
|
|
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser)
|
rs796052065
|
|
NM_000030.3(AGXT):c.1045_1046delinsAA (p.Gly349Asn)
|
|
|
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp)
|
rs2059038329
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1065G>A (p.Thr355=)
|
rs143488099
|
|
NM_000030.3(AGXT):c.1065G>C (p.Thr355=)
|
rs143488099
|
|
NM_000030.3(AGXT):c.1071+1G>A
|
rs180177158
|
|
NM_000030.3(AGXT):c.1072-1G>A
|
|
|
NM_000030.3(AGXT):c.1072-2A>G
|
|
|
NM_000030.3(AGXT):c.1072-91G>A
|
rs180177159
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)
|
|
|
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
|
|
|
NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr)
|
rs180177163
|
|
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs)
|
rs796052075
|
|
NM_000030.3(AGXT):c.1120G>C (p.Asp374His)
|
|
|
NM_000030.3(AGXT):c.1125_1126del (p.Val376fs)
|
rs180177164
|
|
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp)
|
rs796052066
|
|
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
|
|
|
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
|
|
|
NM_000030.3(AGXT):c.121G>T (p.Gly41Trp)
|
|
|
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu)
|
rs180177168
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.126dup (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)
|
rs180177172
|
|
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
|
|
|
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
|
|
|
NM_000030.3(AGXT):c.165+12G>C
|
rs201989825
|
|
NM_000030.3(AGXT):c.165+16A>G
|
rs66494441
|
|
NM_000030.3(AGXT):c.165+19_166-48dup
|
rs180177174
|
|
NM_000030.3(AGXT):c.165+1G>T
|
|
|
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
|
|
|
NM_000030.3(AGXT):c.166-1G>A
|
rs180177177
|
|
NM_000030.3(AGXT):c.166-1_172dup
|
|
|
NM_000030.3(AGXT):c.166-47T>C
|
rs180177178
|
|
NM_000030.3(AGXT):c.166-54C>T
|
rs180177179
|
|
NM_000030.3(AGXT):c.166-57C>T
|
rs180177175
|
|
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu)
|
rs761756536
|
|
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg)
|
rs180177181
|
|
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
|
|
|
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
|
|
|
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
|
|
|
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
|
rs121908521
|
|
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)
|
rs121908521
|
|
NM_000030.3(AGXT):c.205C>T (p.Gln69Ter)
|
rs180177182
|
|
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn)
|
rs796052058
|
|
NM_000030.3(AGXT):c.215dup (p.Asn72fs)
|
rs796052069
|
|
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)
|
rs180177183
|
|
NM_000030.3(AGXT):c.224C>A (p.Thr75Lys)
|
|
|
NM_000030.3(AGXT):c.224del (p.Thr75fs)
|
|
|
NM_000030.3(AGXT):c.22G>C (p.Val8Leu)
|
rs796052057
|
|
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
|
|
|
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
|
|
|
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
|
|
|
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter)
|
rs180177184
|
|
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
|
|
|
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
|
|
|
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg)
|
rs180177185
|
|
NM_000030.3(AGXT):c.245G>C (p.Gly82Ala)
|
|
|
NM_000030.3(AGXT):c.245_249delinsAGA (p.Gly82fs)
|
|
|
NM_000030.3(AGXT):c.248A>G (p.His83Arg)
|
rs180177186
|
|
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)
|
rs2058978388
|
|
NM_000030.3(AGXT):c.252_253del (p.Ala85fs)
|
|
|
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp)
|
rs796052059
|
|
NM_000030.3(AGXT):c.259del (p.Glu87fs)
|
|
|
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del)
|
rs1553648333
|
|
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
|
|
|
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
|
|
|
NM_000030.3(AGXT):c.276del (p.Asn92fs)
|
rs180177187
|
|
NM_000030.3(AGXT):c.278_279insCACACTT (p.Leu94fs)
|
|
|
NM_000030.3(AGXT):c.279del (p.Leu94fs)
|
|
|
NM_000030.3(AGXT):c.27C>G (p.Thr9=)
|
rs180177188
|
|
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys)
|
rs180177189
|
|
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
|
|
|
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup)
|
rs180177190
|
|
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)
|
|
|
NM_000030.3(AGXT):c.28C>G (p.Pro10Ala)
|
rs180177191
|
|
NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)
|
|
|
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
|
|
|
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal)
|
rs180177193
|
|
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)
|
rs180177194
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.305T>A (p.Val102Asp)
|
rs1304689724
|
|
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
|
rs375712696
|
|
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs)
|
rs2106427288
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter)
|
rs180177198
|
|
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys)
|
rs796052060
|
|
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
|
|
|
NM_000030.3(AGXT):c.326G>T (p.Gly109Val)
|
rs180177199
|
|
NM_000030.3(AGXT):c.327del (p.Gln110fs)
|
rs180177200
|
|
NM_000030.3(AGXT):c.32C>A (p.Pro11His)
|
rs34116584
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000030.3(AGXT):c.32_33del (p.Pro11fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)
|
rs180177202
|
|
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)
|
rs796052061
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly)
|
rs1395056195
|
|
NM_000030.3(AGXT):c.346G>T (p.Gly116Trp)
|
|
|
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter)
|
rs180177208
|
|
NM_000030.3(AGXT):c.349dup (p.Glu117fs)
|
|
|
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
|
|
|
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
|
|
|
NM_000030.3(AGXT):c.353G>C (p.Arg118Pro)
|
|
|
NM_000030.3(AGXT):c.358+163G>T
|
rs11681134
|
|
NM_000030.3(AGXT):c.358+1G>T
|
rs796052067
|
|
NM_000030.3(AGXT):c.358+56_358+64del
|
rs180177209
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)
|
rs747043550
|
|
NM_000030.3(AGXT):c.359-1_382del
|
rs796052070
|
|
NM_000030.3(AGXT):c.359-2A>G
|
|
|
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)
|
rs2058986184
|
|
NM_000030.3(AGXT):c.385G>C (p.Asp129His)
|
rs180177212
|
|
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
|
|
|
NM_000030.3(AGXT):c.389del (p.Pro130fs)
|
|
|
NM_000030.3(AGXT):c.3G>T (p.Met1Ile)
|
rs180177213
|
|
NM_000030.3(AGXT):c.402C>G (p.Tyr134Ter)
|
|
|
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs)
|
rs1553648488
|
|
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter)
|
rs180177214
|
|
NM_000030.3(AGXT):c.40dup (p.Leu14fs)
|
|
|
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)
|
rs2058986411
|
|
NM_000030.3(AGXT):c.416_418del (p.Val139del)
|
rs180177215
|
|
NM_000030.3(AGXT):c.423+1G>A
|
rs1553648493
|
|
NM_000030.3(AGXT):c.423+2T>C
|
|
|
NM_000030.3(AGXT):c.423+36A>C
|
rs180177216
|
|
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)
|
rs180177217
|
|
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp)
|
rs180177217
|
|
NM_000030.3(AGXT):c.424-12dup
|
rs398122323
|
|
NM_000030.3(AGXT):c.424-2A>G
|
rs180177219
|
|
NM_000030.3(AGXT):c.433del (p.Gln145fs)
|
|
|
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)
|
rs1193344118
|
|
NM_000030.3(AGXT):c.445del (p.Val149fs)
|
rs180177220
|
|
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)
|
rs180177221
|
|
NM_000030.3(AGXT):c.449T>C (p.Leu150Pro)
|
rs180177222
|
|
NM_000030.3(AGXT):c.457T>G (p.Leu153Val)
|
rs180177223
|
|
NM_000030.3(AGXT):c.458T>A (p.Leu153Ter)
|
|
|
NM_000030.3(AGXT):c.460del (p.Thr154fs)
|
rs180177224
|
|
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)
|
rs121908530
|
|
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
|
|
|
NM_000030.3(AGXT):c.469G>T (p.Glu157Ter)
|
|
|
NM_000030.3(AGXT):c.469del (p.Glu157fs)
|
|
|
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter)
|
rs180177225
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)
|
rs180177227
|
|
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg)
|
rs180177227
|
|
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
|
|
|
NM_000030.3(AGXT):c.483C>G (p.Gly161=)
|
rs757583201
|
|
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
|
|
|
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu)
|
rs528938116
|
|
NM_000030.3(AGXT):c.506T>C (p.Phe169Ser)
|
|
|
NM_000030.3(AGXT):c.507_508insA (p.Gly170fs)
|
rs2106428645
|
|
NM_000030.3(AGXT):c.508G>C (p.Gly170Arg)
|
|
|
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)
|
rs2106428650
|
|
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr)
|
rs180177231
|
|
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter)
|
rs180177232
|
|
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn)
|
rs180177233
|
|
NM_000030.3(AGXT):c.524+2T>A
|
rs1553648568
|
|
NM_000030.3(AGXT):c.524+3G>A
|
rs886055839
|
|
NM_000030.3(AGXT):c.525-2A>T
|
|
|
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
|
|
|
NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)
|
|
|
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)
|
rs1400552764
|
|
NM_000030.3(AGXT):c.536T>C (p.Leu179Pro)
|
|
|
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
|
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
NM_000030.3(AGXT):c.551C>A (p.Ser184Ter)
|
|
|
NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg)
|
rs180177237
|
|
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
|
|
|
NM_000030.3(AGXT):c.560_561insGGT (p.Ser187_Leu188insVal)
|
|
|
NM_000030.3(AGXT):c.568G>C (p.Gly190Arg)
|
|
|
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
|
|
|
NM_000030.3(AGXT):c.570del (p.Thr191fs)
|
rs180177240
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.577dup (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
|
|
|
NM_000030.3(AGXT):c.583A>C (p.Met195Leu)
|
rs180177243
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
NM_000030.3(AGXT):c.593A>C (p.Gln198Pro)
|
|
|
NM_000030.3(AGXT):c.595+1G>A
|
|
|
NM_000030.3(AGXT):c.595+1G>T
|
|
|
NM_000030.3(AGXT):c.595+2T>G
|
|
|
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser)
|
rs796052062
|
|
NM_000030.3(AGXT):c.596-1G>A
|
|
|
NM_000030.3(AGXT):c.596-2A>G
|
rs180177245
|
|
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
|
|
|
NM_000030.3(AGXT):c.598A>G (p.Ile200Val)
|
|
|
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
|
|
|
NM_000030.3(AGXT):c.605T>A (p.Ile202Asn)
|
rs536352238
|
|
NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter)
|
rs180177247
|
|
NM_000030.3(AGXT):c.614C>A (p.Ser205Ter)
|
rs180177248
|
|
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)
|
rs180177248
|
|
NM_000030.3(AGXT):c.622C>T (p.Gln208Ter)
|
|
|
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
|
|
|
NM_000030.3(AGXT):c.628G>C (p.Ala210Pro)
|
rs180177250
|
|
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
|
|
|
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr)
|
rs1200591457
|
|
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
|
|
|
NM_000030.3(AGXT):c.638C>T (p.Ala213Val)
|
|
|
NM_000030.3(AGXT):c.642_645del (p.Pro215fs)
|
rs180177251
|
|
NM_000030.3(AGXT):c.642del (p.Pro215fs)
|
rs2106429906
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)
|
rs180177253
|
|
NM_000030.3(AGXT):c.658A>T (p.Ile220Phe)
|
|
|
NM_000030.3(AGXT):c.661T>C (p.Ser221Pro)
|
rs180177254
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
|
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000030.3(AGXT):c.680+1G>A
|
rs111996685
|
|
NM_000030.3(AGXT):c.680+1G>C
|
rs111996685
|
|
NM_000030.3(AGXT):c.680+1G>T
|
|
|
NM_000030.3(AGXT):c.680+2T>A
|
rs111742810
|
|
NM_000030.3(AGXT):c.680+3G>C
|
|
|
NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA
|
rs1553648931
|
|
NM_000030.3(AGXT):c.680+5G>C
|
rs180177256
|
|
NM_000030.3(AGXT):c.681-1G>A
|
|
|
NM_000030.3(AGXT):c.681-1G>T
|
rs112673831
|
|
NM_000030.3(AGXT):c.682_683delAA (p.Lys228fs)
|
|
|
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)
|
rs1553648979
|
|
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup)
|
rs1553648979
|
|
NM_000030.3(AGXT):c.693C>G (p.Tyr231Ter)
|
|
|
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu)
|
rs121908527
|
|
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
|
|
|
NM_000030.3(AGXT):c.710C>T (p.Pro237Leu)
|
|
|
NM_000030.3(AGXT):c.716_718del (p.Ser239del)
|
|
|
NM_000030.3(AGXT):c.719_721del (p.Phe240del)
|
|
|
NM_000030.3(AGXT):c.725dup (p.Asp243fs)
|
rs180177257
|
|
NM_000030.3(AGXT):c.727G>C (p.Asp243His)
|
rs180177258
|
|
NM_000030.3(AGXT):c.731T>A (p.Ile244Asn)
|
|
|
NM_000030.3(AGXT):c.733_734del (p.Lys245fs)
|
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)
|
rs121908528
|
|
NM_000030.3(AGXT):c.744del (p.Asn249fs)
|
rs180177261
|
|
NM_000030.3(AGXT):c.74T>G (p.Leu25Arg)
|
rs180177262
|
|
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)
|
rs796052072
|
|
NM_000030.3(AGXT):c.753G>A (p.Trp251Ter)
|
rs180177263
|
|
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)
|
rs180177264
|
|
NM_000030.3(AGXT):c.766del (p.Gln256fs)
|
|
|
NM_000030.3(AGXT):c.774G>T (p.Arg258Ser)
|
|
|
NM_000030.3(AGXT):c.776+1G>A
|
rs180177265
|
|
NM_000030.3(AGXT):c.776+1G>C
|
rs180177265
|
|
NM_000030.3(AGXT):c.776+2T>G
|
rs1553649007
|
|
NM_000030.3(AGXT):c.777-2A>G
|
rs796052068
|
|
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
|
|
|
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro)
|
rs180177268
|
|
NM_000030.3(AGXT):c.781C>G (p.His261Asp)
|
rs778567956
|
|
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs)
|
rs180177270
|
|
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)
|
|
|
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
|
|
|
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)
|
rs180177271
|
|
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
|
|
|
NM_000030.3(AGXT):c.809A>G (p.Tyr270Cys)
|
|
|
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)
|
|
|
NM_000030.3(AGXT):c.815T>C (p.Leu272Pro)
|
|
|
NM_000030.3(AGXT):c.823A>C (p.Ser275Arg)
|
rs180177272
|
|
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)
|
rs180177273
|
|
NM_000030.3(AGXT):c.824G>A (p.Ser275Asn)
|
rs767607960
|
|
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
|
|
|
NM_000030.3(AGXT):c.827T>A (p.Leu276Gln)
|
|
|
NM_000030.3(AGXT):c.830delinsAA (p.Ala277fs)
|
|
|
NM_000030.3(AGXT):c.834del (p.Ile279fs)
|
rs180177276
|
|
NM_000030.3(AGXT):c.837T>G (p.Ile279Met)
|
rs180177277
|
|
NM_000030.3(AGXT):c.838del (p.Ala280fs)
|
rs2106430924
|
|
NM_000030.3(AGXT):c.839C>T (p.Ala280Val)
|
rs73106685
|
|
NM_000030.3(AGXT):c.83del (p.Pro28fs)
|
rs180177278
|
|
NM_000030.3(AGXT):c.840G>A (p.Ala280=)
|
rs143295006
|
|
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter)
|
rs180177279
|
|
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg)
|
rs180177280
|
|
NM_000030.3(AGXT):c.846+1G>A
|
rs180177281
|
|
NM_000030.3(AGXT):c.846+646_942+139del
|
|
|
NM_000030.3(AGXT):c.846G>C (p.Gln282His)
|
rs180177284
|
|
NM_000030.3(AGXT):c.847-1G>C
|
rs180177285
|
|
NM_000030.3(AGXT):c.847-2_847-1del
|
rs1553649375
|
|
NM_000030.3(AGXT):c.848del
|
|
|
NM_000030.3(AGXT):c.851T>C (p.Leu284Pro)
|
rs180177287
|
|
NM_000030.3(AGXT):c.853G>T (p.Glu285Ter)
|
rs180177288
|
|
NM_000030.3(AGXT):c.860_861delinsCG (p.Ser287Thr)
|
rs180177289
|
|
NM_000030.3(AGXT):c.872A>C (p.His291Pro)
|
|
|
NM_000030.3(AGXT):c.876C>A (p.Arg292=)
|
rs763852365
|
|
NM_000030.3(AGXT):c.883GCG[1] (p.Ala296del)
|
rs180177291
|
|
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)
|
rs180177292
|
|
NM_000030.3(AGXT):c.893T>C (p.Leu298Pro)
|
rs180177293
|
|
NM_000030.3(AGXT):c.910del (p.Ala304fs)
|
|
|
NM_000030.3(AGXT):c.919del (p.Leu307fs)
|
rs180177295
|
|
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter)
|
rs180177296
|
|
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
|
|
|
NM_000030.3(AGXT):c.942+1G>A
|
rs180177297
|
|
NM_000030.3(AGXT):c.942+1G>T
|
rs180177297
|
|
NM_000030.3(AGXT):c.943-1G>A
|
rs180177298
|
|
NM_000030.3(AGXT):c.943-1G>T
|
rs180177298
|
|
NM_000030.3(AGXT):c.947T>C (p.Leu316Pro)
|
rs796052063
|
|
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)
|
rs200317876
|
|
NM_000030.3(AGXT):c.956C>T (p.Pro319Leu)
|
rs180177299
|
|
NM_000030.3(AGXT):c.959_960del (p.Thr320fs)
|
rs796052074
|
|
NM_000030.3(AGXT):c.971_972del (p.Val324fs)
|
rs180177300
|
|
NM_000030.3(AGXT):c.973del (p.Ala325fs)
|
rs2059037657
|
|
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)
|
rs180177302
|
|
NM_000030.3(AGXT):c.994_995del (p.Trp332fs)
|
|
|
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)
|
rs796052064
|
|
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter)
|
rs180177303
|
|
NM_000030.3(AGXT):c.[32C>T;836T>C]
|
|
|
NM_012203.1(GRHPR):c.866-25CT[9]
|
rs34302950
|
|
NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]
|
|
|
NM_012203.2(GRHPR):c.*132T>C
|
rs1823695311
|
|
NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
|
NM_012203.2(GRHPR):c.100del (p.Trp34fs)
|
|
|
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
|
|
|
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
|
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012203.2(GRHPR):c.109_118delinsCAC (p.Asp37fs)
|
|
|
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter)
|
rs202022170
|
|
NM_012203.2(GRHPR):c.154del (p.Ala52fs)
|
rs751101495
|
|
NM_012203.2(GRHPR):c.156C>G (p.Ala52=)
|
rs754532633
|
|
NM_012203.2(GRHPR):c.160G>A (p.Gly54Ser)
|
|
|
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
|
|
|
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
|
|
|
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
|
|
|
NM_012203.2(GRHPR):c.188_189del (p.Val63fs)
|
rs1554746565
|
|
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)
|
rs1554746094
|
|
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu)
|
rs1554746094
|
|
NM_012203.2(GRHPR):c.206_214+11del
|
|
|
NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)
|
|
|
NM_012203.2(GRHPR):c.214+1G>A
|
|
|
NM_012203.2(GRHPR):c.214+1G>C
|
rs1244822375
|
|
NM_012203.2(GRHPR):c.214+2T>G
|
rs1057517398
|
|
NM_012203.2(GRHPR):c.215-11C>T
|
rs796052076
|
|
NM_012203.2(GRHPR):c.215-2_215-1del
|
rs1554746793
|
|
NM_012203.2(GRHPR):c.228dup (p.Val77fs)
|
rs1057517238
|
|
NM_012203.2(GRHPR):c.248_249del (p.Val83fs)
|
rs672601351
|
|
NM_012203.2(GRHPR):c.251del (p.Gly84fs)
|
|
|
NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
|
|
|
NM_012203.2(GRHPR):c.259del (p.His87fs)
|
|
|
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro)
|
rs1588751701
|
|
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
|
|
|
NM_012203.2(GRHPR):c.286_287+1del
|
rs750079140
|
|
NM_012203.2(GRHPR):c.287+2T>C
|
rs1564297234
|
|
NM_012203.2(GRHPR):c.287G>A (p.Arg96His)
|
|
|
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu)
|
rs796052078
|
|
NM_012203.2(GRHPR):c.287_287+4delinsCCC
|
|
|
NM_012203.2(GRHPR):c.288-1G>C
|
|
|
NM_012203.2(GRHPR):c.288-2_288del
|
rs796052081
|
|
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg)
|
rs1554746097
|
|
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter)
|
rs1823086297
|
|
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile)
|
rs761490627
|
|
NM_012203.2(GRHPR):c.319dup (p.Leu107fs)
|
|
|
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)
|
rs180177307
|
|
NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)
|
|
|
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
|
|
|
NM_012203.2(GRHPR):c.348del (p.Ser117fs)
|
|
|
NM_012203.2(GRHPR):c.349T>C (p.Ser117Pro)
|
|
|
NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)
|
|
|
NM_012203.2(GRHPR):c.359T>C (p.Leu120Pro)
|
|
|
NM_012203.2(GRHPR):c.370C>T (p.Arg124Cys)
|
|
|
NM_012203.2(GRHPR):c.375del (p.Leu126fs)
|
rs180177308
|
|
NM_012203.2(GRHPR):c.390C>T (p.Ile130=)
|
rs752869610
|
|
NM_012203.2(GRHPR):c.403_404+1del
|
rs1554747007
|
|
NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
|
NM_012203.2(GRHPR):c.404del (p.Asn135fs)
|
rs1057516299
|
|
NM_012203.2(GRHPR):c.405-1G>A
|
rs779208888
|
|
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
|
|
|
NM_012203.2(GRHPR):c.419C>T (p.Ser140Leu)
|
|
|
NM_012203.2(GRHPR):c.422G>A (p.Trp141Ter)
|
|
|
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs)
|
rs1057517333
|
|
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)
|
rs1057517026
|
|
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del)
|
rs1243273371
|
|
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter)
|
rs1341484544
|
|
NM_012203.2(GRHPR):c.45del (p.Ala17fs)
|
rs180177311
|
|
NM_012203.2(GRHPR):c.493+1G>A
|
|
|
NM_012203.2(GRHPR):c.493+2T>A
|
rs180177313
|
|
NM_012203.2(GRHPR):c.494-2A>G
|
|
|
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)
|
|
|
NM_012203.2(GRHPR):c.496del (p.Gln166fs)
|
rs1554747871
|
|
NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)
|
|
|
NM_012203.2(GRHPR):c.501del (p.Ile168fs)
|
|
|
NM_012203.2(GRHPR):c.515del (p.Leu172fs)
|
rs1057516990
|
|
NM_012203.2(GRHPR):c.532del (p.Gln178fs)
|
|
|
NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
|
|
|
NM_012203.2(GRHPR):c.540del (p.Leu181fs)
|
rs180177315
|
|
NM_012203.2(GRHPR):c.586del (p.Gln196fs)
|
|
|
NM_012203.2(GRHPR):c.589del (p.Ala197fs)
|
rs1564300408
|
|
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs)
|
rs1588757756
|
|
NM_012203.2(GRHPR):c.597del (p.Phe199fs)
|
rs1057516292
|
|
NM_012203.2(GRHPR):c.598+1G>T
|
rs111256477
|
|
NM_012203.2(GRHPR):c.598+1del
|
rs1554747933
|
|
NM_012203.2(GRHPR):c.599-1G>A
|
|
|
NM_012203.2(GRHPR):c.599-1G>C
|
rs1422977131
|
|
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro)
|
rs886063930
|
|
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
|
|
|
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs)
|
rs1564300888
|
|
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)
|
|
|
NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)
|
|
|
NM_012203.2(GRHPR):c.656C>T (p.Thr219Ile)
|
|
|
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)
|
rs146227450
|
|
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
|
|
|
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
|
|
|
NM_012203.2(GRHPR):c.694del (p.Gln232fs)
|
rs796052082
|
|
NM_012203.2(GRHPR):c.737dup
|
|
|
NM_012203.2(GRHPR):c.755dup (p.Asp252fs)
|
rs1057516823
|
|
NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro)
|
|
|
NM_012203.2(GRHPR):c.769dup (p.Ala257fs)
|
|
|
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
|
|
|
NM_012203.2(GRHPR):c.780dup (p.Gly261fs)
|
|
|
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs)
|
rs1554748528
|
|
NM_012203.2(GRHPR):c.783del (p.Lys262fs)
|
|
|
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)
|
rs1554748534
|
|
NM_012203.2(GRHPR):c.805G>C (p.Asp269His)
|
|
|
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
|
|
|
NM_012203.2(GRHPR):c.83+1G>A
|
|
|
NM_012203.2(GRHPR):c.83+1G>C
|
rs1822898131
|
|
NM_012203.2(GRHPR):c.83+51G>A
|
rs1554746162
|
|
NM_012203.2(GRHPR):c.83+51_83+52delinsA
|
rs35891798
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
NM_012203.2(GRHPR):c.84-12_84-5delinsTTT
|
|
|
NM_012203.2(GRHPR):c.84-2A>G
|
rs180177319
|
|
NM_012203.2(GRHPR):c.84-8_84-5del
|
rs180177320
|
|
NM_012203.2(GRHPR):c.847del (p.Leu282_Leu283insTer)
|
|
|
NM_012203.2(GRHPR):c.849dup (p.Thr284fs)
|
rs1554748574
|
|
NM_012203.2(GRHPR):c.863del (p.Cys288fs)
|
rs1554748598
|
|
NM_012203.2(GRHPR):c.865+1del
|
|
|
NM_012203.2(GRHPR):c.865+2T>C
|
|
|
NM_012203.2(GRHPR):c.865+2dup
|
rs1218448371
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
NM_012203.2(GRHPR):c.866_867delTG
|
|
|
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)
|
rs1554749639
|
|
NM_012203.2(GRHPR):c.871C>T (p.Leu291=)
|
rs1135283
|
|
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro)
|
rs1588768370
|
|
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser)
|
rs1823674233
|
|
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)
|
rs200632069
|
|
NM_012203.2(GRHPR):c.890_891dup (p.Thr298fs)
|
|
|
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
|
|
|
NM_012203.2(GRHPR):c.930_931dup (p.Asn311fs)
|
|
|
NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
|
|
|
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)
|
rs180177324
|
|
NM_012203.2(GRHPR):c.935dup (p.Asn312fs)
|
rs1554749668
|
|
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
|
|
|
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)
|
rs1554749672
|
|
NM_012203.2(GRHPR):c.954del (p.Glu320fs)
|
rs1057516831
|
|
NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)
|
|
|
NM_012203.2(GRHPR):c.964_965del (p.Met322fs)
|
rs1554749707
|
|
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr)
|
rs180177325
|
|
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg)
|
rs180177325
|
|
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp)
|
rs1554749727
|
|
NM_012203.2:c.215_493del
|
|
|
NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter)
|
rs2091405838
|
|
NM_138413.4(HOGA1):c.*1059A>C
|
rs886047524
|
|
NM_138413.4(HOGA1):c.*186C>A
|
rs576078709
|
|
NM_138413.4(HOGA1):c.*204T>A
|
rs886047519
|
|
NM_138413.4(HOGA1):c.*288A>C
|
rs886047520
|
|
NM_138413.4(HOGA1):c.*291C>T
|
rs1451536369
|
|
NM_138413.4(HOGA1):c.*350dup
|
rs1554875325
|
|
NM_138413.4(HOGA1):c.*353_*354dup
|
rs5787248
|
|
NM_138413.4(HOGA1):c.*354dup
|
rs5787248
|
|
NM_138413.4(HOGA1):c.*359dup
|
rs561998392
|
|
NM_138413.4(HOGA1):c.*381AG[1]
|
rs886047523
|
|
NM_138413.4(HOGA1):c.*391T>C
|
rs2041201199
|
|
NM_138413.4(HOGA1):c.*415T>A
|
rs148648470
|
|
NM_138413.4(HOGA1):c.*427G>A
|
rs181759217
|
|
NM_138413.4(HOGA1):c.*485C>T
|
rs553100036
|
|
NM_138413.4(HOGA1):c.*560T>C
|
rs1977641
|
|
NM_138413.4(HOGA1):c.*592C>G
|
rs573565860
|
|
NM_138413.4(HOGA1):c.*592C>T
|
rs573565860
|
|
NM_138413.4(HOGA1):c.*637G>A
|
rs1977640
|
|
NM_138413.4(HOGA1):c.*665C>T
|
rs2041204731
|
|
NM_138413.4(HOGA1):c.*733C>T
|
rs764120248
|
|
NM_138413.4(HOGA1):c.*803A>G
|
rs542605022
|
|
NM_138413.4(HOGA1):c.*887C>G
|
rs2041206041
|
|
NM_138413.4(HOGA1):c.*937C>T
|
rs532737566
|
|
NM_138413.4(HOGA1):c.103A>G (p.Ile35Val)
|
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138413.4(HOGA1):c.110G>A (p.Gly37Asp)
|
|
|
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)
|
rs772722925
|
|
NM_138413.4(HOGA1):c.122_123del (p.Pro41fs)
|
rs1564753668
|
|
NM_138413.4(HOGA1):c.122del (p.Pro41fs)
|
|
|
NM_138413.4(HOGA1):c.122dup (p.Val42fs)
|
rs1425736036
|
|
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro)
|
rs1221444661
|
|
NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp)
|
rs1347221993
|
|
NM_138413.4(HOGA1):c.158del (p.Asp53fs)
|
rs796052091
|
|
NM_138413.4(HOGA1):c.186_187del (p.His62fs)
|
|
|
NM_138413.4(HOGA1):c.189del (p.Lys63fs)
|
rs1247079002
|
|
NM_138413.4(HOGA1):c.18C>T (p.Val6=)
|
rs1589899135
|
|
NM_138413.4(HOGA1):c.200T>G (p.Phe67Cys)
|
|
|
NM_138413.4(HOGA1):c.204dup (p.Phe69fs)
|
|
|
NM_138413.4(HOGA1):c.206T>G (p.Phe69Cys)
|
|
|
NM_138413.4(HOGA1):c.20G>C (p.Trp7Ser)
|
|
|
NM_138413.4(HOGA1):c.212-1G>A
|
|
|
NM_138413.4(HOGA1):c.212G>T (p.Gly71Val)
|
|
|
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp)
|
rs796052088
|
|
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del)
|
rs1554872338
|
|
NM_138413.4(HOGA1):c.234T>A (p.Asn78Lys)
|
|
|
NM_138413.4(HOGA1):c.238G>T (p.Glu80Ter)
|
|
|
NM_138413.4(HOGA1):c.250del (p.Phe83_Leu84insTer)
|
|
|
NM_138413.4(HOGA1):c.251T>C (p.Leu84Pro)
|
|
|
NM_138413.4(HOGA1):c.266G>A (p.Arg89His)
|
|
|
NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile)
|
rs796052089
|
|
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys)
|
rs150702945
|
|
NM_138413.4(HOGA1):c.340+1G>A
|
|
|
NM_138413.4(HOGA1):c.341-82del
|
rs796052083
|
|
NM_138413.4(HOGA1):c.341-8T>C
|
rs2041094866
|
|
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser)
|
rs2041094955
|
|
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter)
|
rs767405535
|
|
NM_138413.4(HOGA1):c.356T>A (p.Val119Glu)
|
|
|
NM_138413.4(HOGA1):c.356T>G (p.Val119Gly)
|
|
|
NM_138413.4(HOGA1):c.365C>T (p.Thr122Ile)
|
|
|
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr)
|
|
|
NM_138413.4(HOGA1):c.3G>A (p.Met1Ile)
|
|
|
NM_138413.4(HOGA1):c.404del (p.Val135fs)
|
rs1554874148
|
|
NM_138413.4(HOGA1):c.413del (p.Pro138fs)
|
rs777683624
|
|
NM_138413.4(HOGA1):c.415T>G (p.Cys139Gly)
|
|
|
NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln)
|
|
|
NM_138413.4(HOGA1):c.425G>A (p.Arg142His)
|
|
|
NM_138413.4(HOGA1):c.448del (p.Leu150fs)
|
rs746776892
|
|
NM_138413.4(HOGA1):c.469-13C>T
|
rs750664684
|
|
NM_138413.4(HOGA1):c.469-1G>C
|
|
|
NM_138413.4(HOGA1):c.477T>C (p.Asp159=)
|
rs2041100859
|
|
NM_138413.4(HOGA1):c.485C>T (p.Pro162Leu)
|
|
|
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro)
|
rs796052090
|
|
NM_138413.4(HOGA1):c.533_535delinsCGA (p.Leu178_Pro179delinsProThr)
|
|
|
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr)
|
rs374327791
|
|
NM_138413.4(HOGA1):c.535C>T (p.Pro179Ser)
|
|
|
NM_138413.4(HOGA1):c.541G>C (p.Asp181His)
|
|
|
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
|
|
|
NM_138413.4(HOGA1):c.584T>C (p.Met195Thr)
|
|
|
NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp)
|
|
|
NM_138413.4(HOGA1):c.603+1G>A
|
rs2135722313
|
|
NM_138413.4(HOGA1):c.604-4G>T
|
rs2041104477
|
|
NM_138413.4(HOGA1):c.634A>C (p.Thr212Pro)
|
|
|
NM_138413.4(HOGA1):c.64G>A (p.Val22Met)
|
rs1425518232
|
|
NM_138413.4(HOGA1):c.651dup (p.Gln218fs)
|
|
|
NM_138413.4(HOGA1):c.661G>A (p.Ala221Thr)
|
rs2041104991
|
|
NM_138413.4(HOGA1):c.661G>C (p.Ala221Pro)
|
|
|
NM_138413.4(HOGA1):c.700+2T>A
|
|
|
NM_138413.4(HOGA1):c.700+4G>T
|
rs2041105506
|
|
NM_138413.4(HOGA1):c.700G>C (p.Gly234Arg)
|
|
|
NM_138413.4(HOGA1):c.701-11_701-8dup
|
rs143018385
|
|
NM_138413.4(HOGA1):c.701-2A>G
|
rs776817346
|
|
NM_138413.4(HOGA1):c.70del (p.Val24fs)
|
rs2135711274
|
|
NM_138413.4(HOGA1):c.713del (p.Gly238fs)
|
rs760930050
|
|
NM_138413.4(HOGA1):c.720C>A (p.Cys240Ter)
|
|
|
NM_138413.4(HOGA1):c.728C>A (p.Ala243Asp)
|
rs796052085
|
|
NM_138413.4(HOGA1):c.733G>A (p.Val245Ile)
|
rs755562733
|
|
NM_138413.4(HOGA1):c.733G>T (p.Val245Phe)
|
rs755562733
|
|
NM_138413.4(HOGA1):c.743del (p.Ala248fs)
|
|
|
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser)
|
rs886047518
|
|
NM_138413.4(HOGA1):c.754C>T (p.Gln252Ter)
|
|
|
NM_138413.4(HOGA1):c.769_770del (p.Cys257fs)
|
|
|
NM_138413.4(HOGA1):c.776C>T (p.Thr259Met)
|
rs144103035
|
|
NM_138413.4(HOGA1):c.784T>G (p.Trp262Gly)
|
|
|
NM_138413.4(HOGA1):c.785G>A (p.Trp262Ter)
|
|
|
NM_138413.4(HOGA1):c.787G>T (p.Glu263Ter)
|
|
|
NM_138413.4(HOGA1):c.793G>A (p.Ala265Thr)
|
|
|
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter)
|
rs752277936
|
|
NM_138413.4(HOGA1):c.803_805del (p.Leu268del)
|
rs796052092
|
|
NM_138413.4(HOGA1):c.811del (p.Arg271fs)
|
|
|
NM_138413.4(HOGA1):c.814C>G (p.Leu272Val)
|
|
|
NM_138413.4(HOGA1):c.833C>A (p.Ala278Glu)
|
|
|
NM_138413.4(HOGA1):c.834+1G>A
|
rs749315029
|
|
NM_138413.4(HOGA1):c.834+2T>C
|
rs947352856
|
|
NM_138413.4(HOGA1):c.834G>T (p.Ala278=)
|
rs770050262
|
|
NM_138413.4(HOGA1):c.834_834+1delinsTT
|
rs1564760008
|
|
NM_138413.4(HOGA1):c.835-7T>A
|
rs768061627
|
|
NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys)
|
|
|
NM_138413.4(HOGA1):c.845G>A (p.Arg282His)
|
|
|
NM_138413.4(HOGA1):c.85G>T (p.Glu29Ter)
|
|
|
NM_138413.4(HOGA1):c.860G>A (p.Gly287Glu)
|
|
|
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr)
|
rs1554875257
|
|
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr)
|
rs796052087
|
|
NM_138413.4(HOGA1):c.881G>A (p.Trp294Ter)
|
|
|
NM_138413.4(HOGA1):c.895G>C (p.Gly299Arg)
|
|
|
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
|
|
|
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del)
|
rs750736378
|
|
NM_138413.4(HOGA1):c.926T>C (p.Leu309Pro)
|
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138413.4(HOGA1):c.940G>T (p.Glu314Ter)
|
|
|
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys)
|
|
|