NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser)
|
rs180177191
|
0.00038
|
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_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)
|
rs368386747
|
0.00009
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
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.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_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_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_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)
|
rs121912978
|
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.481G>T (p.Gly161Cys)
|
rs180177227
|
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_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_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.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.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.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.607-1G>A
|
rs730880305
|
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_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.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.290G>A (p.Arg97His)
|
rs752252343
|
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
|
|
|
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.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.166-1G>A
|
rs180177177
|
|
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.22G>C (p.Val8Leu)
|
rs796052057
|
|
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter)
|
rs180177184
|
|
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.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.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>T (p.Gly109Val)
|
rs180177199
|
|
NM_000030.3(AGXT):c.327del (p.Gln110fs)
|
rs180177200
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
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.359-1_382del
|
rs796052070
|
|
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.423G>T (p.Glu141Asp)
|
rs180177217
|
|
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.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.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.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
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.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+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.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.628G>C (p.Ala210Pro)
|
rs180177250
|
|
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.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.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.806T>C (p.Leu269Pro)
|
rs180177271
|
|
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
|
|
|
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.830delinsAA (p.Ala277fs)
|
|
|
NM_000030.3(AGXT):c.834del (p.Ile279fs)
|
rs180177276
|
|
NM_000030.3(AGXT):c.83del (p.Pro28fs)
|
rs180177278
|
|
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter)
|
rs180177279
|
|
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.2710G>T (p.Val904Leu)
|
rs2147540656
|
|
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.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.65dup (p.Leu22fs)
|
rs1266831898
|
|
NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)
|
|
|
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.359_363dup (p.His122fs)
|
|
|
NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs)
|
|
|
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)
|
rs1554653185
|
|
NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly)
|
|
|
NM_000498.3(CYP11B2):c.1276C>T (p.Gln426Ter)
|
rs2130324802
|
|
NM_000498.3(CYP11B2):c.1460dup (p.Ile488fs)
|
|
|
NM_000498.3(CYP11B2):c.1471C>T (p.Pro491Ser)
|
|
|
NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)
|
|
|
NM_000498.3(CYP11B2):c.542G>C (p.Arg181Pro)
|
|
|
NM_000498.3(CYP11B2):c.545_546dup (p.Ser183fs)
|
rs771908700
|
|
NM_000498.3(CYP11B2):c.546dup (p.Ser183fs)
|
|
|
NM_000498.3(CYP11B2):c.780G>A (p.Trp260Ter)
|
|
|
NM_000498.3(CYP11B2):c.788T>A (p.Ile263Asn)
|
|
|
NM_000498.3(CYP11B2):c.793C>T (p.Gln265Ter)
|
|
|
NM_000498.3(CYP11B2):c.954G>C (p.Thr318=)
|
|
|
NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]
|
|
|
NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012203.2(GRHPR):c.248_249del (p.Val83fs)
|
rs672601351
|
|
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu)
|
rs796052078
|
|
NM_012203.2(GRHPR):c.288-2_288del
|
rs796052081
|
|
NM_012203.2(GRHPR):c.375del (p.Leu126fs)
|
rs180177308
|
|
NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
|
NM_012203.2(GRHPR):c.45del (p.Ala17fs)
|
rs180177311
|
|
NM_012203.2(GRHPR):c.493+2T>A
|
rs180177313
|
|
NM_012203.2(GRHPR):c.540del (p.Leu181fs)
|
rs180177315
|
|
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
|
|
|
NM_012203.2(GRHPR):c.694del (p.Gln232fs)
|
rs796052082
|
|
NM_012203.2(GRHPR):c.84-12_84-5delinsTTT
|
|
|
NM_012203.2(GRHPR):c.84-2A>G
|
rs180177319
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)
|
rs180177324
|
|
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.110G>A (p.Gly37Asp)
|
|
|
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.227G>A (p.Gly76Asp)
|
rs796052088
|
|
NM_138413.4(HOGA1):c.238G>T (p.Glu80Ter)
|
|
|
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.346C>T (p.Gln116Ter)
|
rs767405535
|
|
NM_138413.4(HOGA1):c.3G>A (p.Met1Ile)
|
|
|
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.728C>A (p.Ala243Asp)
|
rs796052085
|
|
NM_138413.4(HOGA1):c.733G>A (p.Val245Ile)
|
rs755562733
|
|
NM_138413.4(HOGA1):c.754C>T (p.Gln252Ter)
|
|
|
NM_138413.4(HOGA1):c.803_805del (p.Leu268del)
|
rs796052092
|
|
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.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138413.4(HOGA1):c.940G>T (p.Glu314Ter)
|
|
|