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_000030.3(AGXT):c.846+52G>A
|
rs12695032
|
0.43208
|
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_138413.4(HOGA1):c.912C>A (p.Ala304=)
|
rs12261752
|
0.29673
|
NM_000030.3(AGXT):c.524+91C>T
|
rs10196315
|
0.29513
|
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.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_138413.4(HOGA1):c.469-31C>T
|
rs75929214
|
0.09102
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)
|
rs41290456
|
0.02716
|
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_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.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
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.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_000030.3(AGXT):c.424-16G>A
|
rs74895925
|
0.00239
|
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_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
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.598+145G>T
|
rs72739643
|
0.00108
|
NM_000030.3(AGXT):c.166-56C>T
|
rs114401766
|
0.00090
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)
|
rs151185188
|
0.00051
|
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_138413.4(HOGA1):c.701-18G>C
|
rs201596675
|
0.00034
|
NM_000030.3(AGXT):c.165+44T>A
|
rs58120546
|
0.00033
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_000030.3(AGXT):c.489G>A (p.Leu163=)
|
rs147601535
|
0.00019
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)
|
rs121434247
|
0.00015
|
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)
|
rs121434250
|
0.00015
|
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)
|
rs369950120
|
0.00011
|
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)
|
rs368386747
|
0.00009
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
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_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
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.82C>T (p.Pro28Ser)
|
rs376684240
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)
|
rs770050262
|
0.00006
|
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_000198.4(HSD3B2):c.745C>T (p.Arg249Ter)
|
rs80358217
|
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.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)
|
rs119481079
|
0.00004
|
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val)
|
rs142236065
|
0.00004
|
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)
|
rs121912978
|
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.139G>A (p.Gly47Arg)
|
rs180177173
|
0.00003
|
NM_000030.3(AGXT):c.27C>A (p.Thr9=)
|
rs180177188
|
0.00003
|
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
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.905G>A (p.Arg302His)
|
rs180177323
|
0.00003
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys)
|
rs149150736
|
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_000498.3(CYP11B2):c.954G>A (p.Thr318=)
|
rs760329766
|
0.00002
|
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)
|
rs180177316
|
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.208C>T (p.Arg70Ter)
|
rs758304537
|
0.00002
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
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.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.175G>A (p.Glu59Lys)
|
rs767586362
|
0.00001
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
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.497T>C (p.Leu166Pro)
|
rs180177230
|
0.00001
|
NM_000030.3(AGXT):c.525-1G>A
|
rs180177234
|
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.679_680+2del
|
rs180177255
|
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.907C>T (p.Gln303Ter)
|
rs180177294
|
0.00001
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln)
|
rs104894153
|
0.00001
|
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr)
|
rs119481078
|
0.00001
|
NM_000197.2(HSD17B3):c.607-1G>A
|
rs730880305
|
0.00001
|
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)
|
rs587628683
|
0.00001
|
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)
|
rs764433016
|
0.00001
|
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp)
|
rs767564684
|
0.00001
|
NM_000497.4(CYP11B1):c.596-2A>T
|
rs775946442
|
0.00001
|
NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)
|
rs1311444460
|
0.00001
|
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp)
|
rs28931609
|
0.00001
|
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)
|
rs180177304
|
0.00001
|
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro)
|
rs180177305
|
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.478G>A (p.Gly160Arg)
|
rs180177312
|
0.00001
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
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.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter)
|
rs746419489
|
0.00001
|
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)
|
rs267606763
|
0.00001
|
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)
|
rs796052084
|
0.00001
|
NM_138413.4(HOGA1):c.290G>A (p.Arg97His)
|
rs752252343
|
0.00001
|
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)
|
rs777601935
|
0.00001
|
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)
|
rs779492256
|
0.00001
|
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile)
|
rs756489804
|
0.00001
|
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)
|
rs777046879
|
0.00001
|
Multiple alleles
|
|
|
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.[299_307dup;308G>A]
|
|
|
NM_000030.2(AGXT):c.[829_830insA;830C>A]
|
|
|
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)
|
rs180177155
|
|
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter)
|
rs756437332
|
|
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser)
|
rs796052065
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1071+1G>A
|
rs180177158
|
|
NM_000030.3(AGXT):c.1072-91G>A
|
rs180177159
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
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.1125_1126del (p.Val376fs)
|
rs180177164
|
|
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp)
|
rs796052066
|
|
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+16A>G
|
rs66494441
|
|
NM_000030.3(AGXT):c.165+19_166-48dup
|
rs180177174
|
|
NM_000030.3(AGXT):c.166-1G>A
|
rs180177177
|
|
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.187G>C (p.Gly63Arg)
|
rs180177181
|
|
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.22G>C (p.Val8Leu)
|
rs796052057
|
|
NM_000030.3(AGXT):c.238_239insTTGCCAA (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.245_249delinsAGA (p.Gly82fs)
|
|
|
NM_000030.3(AGXT):c.248A>G (p.His83Arg)
|
rs180177186
|
|
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp)
|
rs796052059
|
|
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
|
|
|
NM_000030.3(AGXT):c.276del (p.Asn92fs)
|
rs180177187
|
|
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys)
|
rs180177189
|
|
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup)
|
rs180177190
|
|
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)
|
|
|
NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)
|
|
|
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.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.346G>T (p.Gly116Trp)
|
|
|
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter)
|
rs180177208
|
|
NM_000030.3(AGXT):c.358+1G>T
|
rs796052067
|
|
NM_000030.3(AGXT):c.358+56_358+64del
|
rs180177209
|
|
NM_000030.3(AGXT):c.359-1_382del
|
rs796052070
|
|
NM_000030.3(AGXT):c.359-2A>G
|
|
|
NM_000030.3(AGXT):c.385G>C (p.Asp129His)
|
rs180177212
|
|
NM_000030.3(AGXT):c.389del (p.Pro130fs)
|
|
|
NM_000030.3(AGXT):c.3G>T (p.Met1Ile)
|
rs180177213
|
|
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter)
|
rs180177214
|
|
NM_000030.3(AGXT):c.40dup (p.Leu14fs)
|
|
|
NM_000030.3(AGXT):c.416_418del (p.Val139del)
|
rs180177215
|
|
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.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.469G>C (p.Glu157Gln)
|
|
|
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.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.52C>T (p.Leu18Phe)
|
|
|
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
NM_000030.3(AGXT):c.536T>C (p.Leu179Pro)
|
|
|
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.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.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+2T>G
|
|
|
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser)
|
rs796052062
|
|
NM_000030.3(AGXT):c.596-2A>G
|
rs180177245
|
|
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
|
|
|
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.642_645del (p.Pro215fs)
|
rs180177251
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
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.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+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.682_683delAA (p.Lys228fs)
|
|
|
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu)
|
rs121908527
|
|
NM_000030.3(AGXT):c.725dup (p.Asp243fs)
|
rs180177257
|
|
NM_000030.3(AGXT):c.727G>C (p.Asp243His)
|
rs180177258
|
|
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.776+1G>A
|
rs180177265
|
|
NM_000030.3(AGXT):c.776+1G>C
|
rs180177265
|
|
NM_000030.3(AGXT):c.777-2A>G
|
rs796052068
|
|
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro)
|
rs180177268
|
|
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs)
|
rs180177270
|
|
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)
|
|
|
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)
|
rs180177271
|
|
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
|
|
|
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)
|
|
|
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.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.839C>T (p.Ala280Val)
|
rs73106685
|
|
NM_000030.3(AGXT):c.83del (p.Pro28fs)
|
rs180177278
|
|
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.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.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.919del (p.Leu307fs)
|
rs180177295
|
|
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter)
|
rs180177296
|
|
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.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.983_988del (p.Ala328_Tyr330delinsAsp)
|
rs180177302
|
|
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_000044.6(AR):c.1341T>A (p.Tyr447Ter)
|
|
|
NM_000044.6(AR):c.2339G>C (p.Arg780Pro)
|
|
|
NM_000044.6(AR):c.2449+1_2449+3dup
|
|
|
NM_000044.6(AR):c.2567G>A (p.Arg856His)
|
rs9332971
|
|
NM_000044.6(AR):c.2710G>T (p.Val904Leu)
|
rs2147540656
|
|
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
|
|
|
NM_000197.2(HSD17B3):c.1A>G (p.Met1Val)
|
|
|
NM_000197.2(HSD17B3):c.201+1G>A
|
|
|
NM_000197.2(HSD17B3):c.202-1G>A
|
rs1378603446
|
|
NM_000197.2(HSD17B3):c.203T>G (p.Leu68Arg)
|
|
|
NM_000197.2(HSD17B3):c.277+5G>A
|
|
|
NM_000197.2(HSD17B3):c.590T>A (p.Met197Lys)
|
|
|
NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)
|
|
|
NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)
|
|
|
NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)
|
|
|
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr)
|
rs119481080
|
|
NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly)
|
|
|
NM_000198.4(HSD3B2):c.65dup (p.Leu22fs)
|
rs1266831898
|
|
NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)
|
|
|
NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys)
|
|
|
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)
|
rs754609778
|
|
NM_000198.4(HSD3B2):c.947G>A (p.Arg316His)
|
|
|
NM_000348.4(SRD5A2):c.311G>A (p.Gly104Glu)
|
|
|
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)
|
|
|
NM_000348.4(SRD5A2):c.574G>A (p.Ala192Thr)
|
|
|
NM_000348.4(SRD5A2):c.587G>A (p.Gly196Asp)
|
|
|
NM_000348.4(SRD5A2):c.698+1G>T
|
|
|
NM_000348.4(SRD5A2):c.699-1G>A
|
|
|
NM_000348.4(SRD5A2):c.743C>A (p.Ala248Asp)
|
|
|
NM_000348.4(SRD5A2):c.80_87del (p.Val27fs)
|
|
|
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg)
|
|
|
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)
|
rs104894062
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NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro)
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NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)
|
rs758714890
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NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser)
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NM_000497.4(CYP11B1):c.359_363dup (p.His122fs)
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NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs)
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NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys)
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NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu)
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NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)
|
rs1554653185
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NM_000497.4(CYP11B1):c.642_643del (p.His214fs)
|
rs1369163428
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NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly)
|
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NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
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NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp)
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NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp)
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NM_000498.3(CYP11B2):c.1120C>G (p.Arg374Gly)
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NM_000498.3(CYP11B2):c.1122-16_1135dup
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NM_000498.3(CYP11B2):c.1190T>A (p.Ile397Asn)
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NM_000498.3(CYP11B2):c.1276C>T (p.Gln426Ter)
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rs2130324802
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NM_000498.3(CYP11B2):c.1342C>G (p.Arg448Gly)
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NM_000498.3(CYP11B2):c.1418T>A (p.Val473Glu)
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NM_000498.3(CYP11B2):c.1460dup (p.Ile488fs)
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NM_000498.3(CYP11B2):c.1471C>T (p.Pro491Ser)
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NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala)
|
rs72554626
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NM_000498.3(CYP11B2):c.304C>T (p.Gln102Ter)
|
rs762727830
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NM_000498.3(CYP11B2):c.400G>A (p.Gly134Arg)
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NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)
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NM_000498.3(CYP11B2):c.542G>C (p.Arg181Pro)
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NM_000498.3(CYP11B2):c.545_546dup (p.Ser183fs)
|
rs771908700
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NM_000498.3(CYP11B2):c.546dup (p.Ser183fs)
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NM_000498.3(CYP11B2):c.680T>C (p.Leu227Pro)
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NM_000498.3(CYP11B2):c.780G>A (p.Trp260Ter)
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NM_000498.3(CYP11B2):c.788T>A (p.Ile263Asn)
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NM_000498.3(CYP11B2):c.793C>T (p.Gln265Ter)
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NM_000498.3(CYP11B2):c.874G>A (p.Glu292Lys)
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NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)
|
rs1351295710
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NM_000498.3(CYP11B2):c.954G>C (p.Thr318=)
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NM_012203.1(GRHPR):c.866-25CT[9]
|
rs34302950
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NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]
|
|
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NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
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NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
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NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
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NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)
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NM_012203.2(GRHPR):c.215-11C>T
|
rs796052076
|
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NM_012203.2(GRHPR):c.248_249del (p.Val83fs)
|
rs672601351
|
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NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
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NM_012203.2(GRHPR):c.287+2T>C
|
rs1564297234
|
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NM_012203.2(GRHPR):c.287G>A (p.Arg96His)
|
|
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NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu)
|
rs796052078
|
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NM_012203.2(GRHPR):c.288-1G>C
|
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NM_012203.2(GRHPR):c.288-2_288del
|
rs796052081
|
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NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
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NM_012203.2(GRHPR):c.348del (p.Ser117fs)
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NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)
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NM_012203.2(GRHPR):c.375del (p.Leu126fs)
|
rs180177308
|
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NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
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NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
|
|
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NM_012203.2(GRHPR):c.45del (p.Ala17fs)
|
rs180177311
|
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NM_012203.2(GRHPR):c.493+2T>A
|
rs180177313
|
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NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
|
|
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NM_012203.2(GRHPR):c.540del (p.Leu181fs)
|
rs180177315
|
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NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)
|
|
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NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
|
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NM_012203.2(GRHPR):c.694del (p.Gln232fs)
|
rs796052082
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
NM_012203.2(GRHPR):c.84-12_84-5delinsTTT
|
|
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NM_012203.2(GRHPR):c.84-2A>G
|
rs180177319
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
NM_012203.2(GRHPR):c.871C>T (p.Leu291=)
|
rs1135283
|
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NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
|
|
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NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)
|
rs180177324
|
|
NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)
|
|
|
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr)
|
rs180177325
|
|
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg)
|
rs180177325
|
|
NM_017545.3(HAO1):c.493G>T (p.Gly165Cys)
|
|
|
NM_138413.4(HOGA1):c.103A>G (p.Ile35Val)
|
|
|
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.134C>G (p.Pro45Arg)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu)
|
rs764396564
|
|
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.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.227G>A (p.Gly76Asp)
|
rs796052088
|
|
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.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.376G>A (p.Ala126Thr)
|
|
|
NM_138413.4(HOGA1):c.3G>A (p.Met1Ile)
|
|
|
NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln)
|
|
|
NM_138413.4(HOGA1):c.469-13C>T
|
rs750664684
|
|
NM_138413.4(HOGA1):c.469-1G>C
|
|
|
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro)
|
rs796052090
|
|
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr)
|
rs374327791
|
|
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
|
|
|
NM_138413.4(HOGA1):c.634A>C (p.Thr212Pro)
|
|
|
NM_138413.4(HOGA1):c.651dup (p.Gln218fs)
|
|
|
NM_138413.4(HOGA1):c.661G>C (p.Ala221Pro)
|
|
|
NM_138413.4(HOGA1):c.700+2T>A
|
|
|
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.743del (p.Ala248fs)
|
|
|
NM_138413.4(HOGA1):c.754C>T (p.Gln252Ter)
|
|
|
NM_138413.4(HOGA1):c.785G>A (p.Trp262Ter)
|
|
|
NM_138413.4(HOGA1):c.787G>T (p.Glu263Ter)
|
|
|
NM_138413.4(HOGA1):c.803_805del (p.Leu268del)
|
rs796052092
|
|
NM_138413.4(HOGA1):c.814C>G (p.Leu272Val)
|
|
|
NM_138413.4(HOGA1):c.833C>A (p.Ala278Glu)
|
|
|
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.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.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138413.4(HOGA1):c.940G>T (p.Glu314Ter)
|
|
|